How did philately contribute to documenting the discovery of Down syndrome. What key milestones in Down syndrome research are represented on stamps. How have postage stamps raised awareness about Down syndrome over time.

The Origins of Down Syndrome Research

Down syndrome, a chromosomal disorder characterized by intellectual disabilities and distinct physical features, has a fascinating history of discovery that can be traced through philately. Postage stamps and related philatelic materials offer a unique lens through which to examine the key milestones in understanding this condition.

John Langdon Down, the British physician who first described the syndrome in 1866, plays a central role in this story. His groundbreaking paper “Observations on the Ethnic Classification of Idiots” laid the foundation for recognizing Down syndrome as a distinct condition, though his terminology and theories were products of his time.

John Langdon Down’s Contribution

How did John Langdon Down’s work impact our understanding of intellectual disabilities? Down’s classification system, while problematic by modern standards, represented an early attempt to categorize and understand different forms of intellectual disability. His observations of what he termed the “Mongolian type of idiot” led to increased scientific interest in the condition that would eventually bear his name.

• 1866: Publication of Down’s seminal paper
• Initial use of the term “Mongolism” (now considered offensive and outdated)
• Establishment of Down syndrome as a recognizable clinical entity

Chromosomal Breakthrough: Jérôme Lejeune’s Discovery

The genetic basis of Down syndrome remained a mystery for nearly a century after Down’s initial description. It wasn’t until 1959 that French geneticist Jérôme Lejeune made a groundbreaking discovery that would revolutionize our understanding of the condition.

Lejeune’s Genetic Insight

What did Jérôme Lejeune discover about Down syndrome? Working in Raymond Turpin’s laboratory, Lejeune identified the presence of an extra chromosome 21 in individuals with Down syndrome. This discovery, published by the French Academy of Sciences on January 26, 1959, established the first link between an intellectual disability and a chromosomal abnormality.

Lejeune’s work opened up an entirely new field of investigation in modern genetics and laid the foundation for the discipline of cytogenetics. This breakthrough allowed researchers to begin unraveling the complex genetic underpinnings of Down syndrome and other chromosomal disorders.

Philatelic Tributes to Down Syndrome Awareness

Postage stamps have played a significant role in raising awareness about Down syndrome and commemorating important milestones in research and advocacy. Several countries have issued stamps specifically dedicated to Down syndrome, often coinciding with World Down Syndrome Day on March 21st.

Romanian Philatelic Recognition

How has Romania contributed to Down syndrome awareness through stamps? In 2011, Romania issued a stamp and First Day Cover to commemorate World Down Syndrome Day on March 21st. This philatelic release helped raise public awareness about the condition and celebrated the achievements of individuals with Down syndrome.

The Romanian stamp features a stylized representation of chromosomes, highlighting the genetic basis of Down syndrome. This visual element serves as an educational tool, introducing viewers to the concept of trisomy 21 in a accessible format.

International Year of Disabled Persons

In 1981, the Netherlands Antilles released a stamp in support of children with disabilities, coinciding with the International Year of Disabled Persons. While not specifically focused on Down syndrome, this stamp represents broader efforts to promote inclusion and awareness of various disabilities, including intellectual disabilities like Down syndrome.

Genetic Understanding and Modern Diagnostics

As our understanding of genetics has advanced, so too have our methods for identifying and studying Down syndrome. Modern research has revealed the complex interplay of genes on chromosome 21 that contribute to the various characteristics associated with the condition.

Trisomy 21: The Genetic Basis

Why is Down syndrome often referred to as trisomy 21? The term “trisomy 21” refers to the presence of three copies of chromosome 21, instead of the typical two copies. This extra genetic material is responsible for the distinct features and health challenges associated with Down syndrome.

• 95% of cases: Full trisomy 21 (entire extra chromosome)
• 3-4% of cases: Translocation (extra chromosome 21 material attached to another chromosome)
• Rare cases: Mosaicism (mixture of cells with and without the extra chromosome)

Understanding these genetic mechanisms has been crucial for developing more accurate diagnostic techniques, including prenatal screening methods that can identify Down syndrome before birth.

Stamps as Educational Tools

Postage stamps serve as miniature ambassadors, carrying messages and information to a wide audience. In the case of Down syndrome, stamps have played a vital role in educating the public about the condition and promoting acceptance and inclusion.

Danish Philatelic Education

How has Denmark used stamps to promote understanding of Down syndrome? In 2002, Denmark issued a stamp that visually represented the genetic basis of Down syndrome. The stamp design incorporated a stylized depiction of chromosomes, helping to familiarize the public with the concept of trisomy 21 in an easily digestible format.

This Danish stamp exemplifies how philately can serve as a powerful educational tool, distilling complex scientific concepts into visually appealing and widely circulated images.

Evolution of Terminology and Perception

The language used to describe Down syndrome has evolved significantly since John Langdon Down’s initial description. This evolution reflects broader changes in societal attitudes towards intellectual disabilities and a growing emphasis on respect and inclusion.

Moving Beyond Outdated Terms

Why was the term “Mongolism” abandoned in relation to Down syndrome? The use of “Mongolism” and related terms like “Mongoloid” came to be recognized as offensive and inaccurate. These terms perpetuated harmful racial stereotypes and failed to accurately describe the genetic basis of the condition.

Modern terminology focuses on person-first language (e.g., “person with Down syndrome”) and emphasizes the individuality and capabilities of those with the condition. This shift in language is reflected in more recent philatelic releases, which tend to use more respectful and scientifically accurate terminology.

Global Awareness and Advocacy

World Down Syndrome Day, observed annually on March 21st (symbolizing the three copies of chromosome 21), has become a focal point for awareness campaigns and philatelic releases. Stamps issued for this occasion often feature positive imagery celebrating the lives and achievements of individuals with Down syndrome.

Philatelic Celebrations of Diversity

How do stamps commemorating World Down Syndrome Day contribute to public awareness? These stamps often feature vibrant, colorful designs that emphasize themes of inclusion, diversity, and potential. By presenting positive images and messages, they help challenge stereotypes and promote a more nuanced understanding of life with Down syndrome.

Examples of such stamps include:

• The 2011 Romanian stamp mentioned earlier
• Releases from various countries featuring artwork created by individuals with Down syndrome
• Stamps depicting successful athletes, artists, and professionals with Down syndrome

The Future of Down Syndrome Research and Awareness

As we look to the future, ongoing research into Down syndrome continues to yield new insights and potential therapeutic approaches. Philately is likely to continue playing a role in documenting these advances and raising public awareness about the condition.

Emerging Research Frontiers

What are some promising areas of current Down syndrome research? Scientists are exploring several avenues that may lead to improved quality of life for individuals with Down syndrome:

• Gene therapy approaches to mitigate specific symptoms
• Improved prenatal screening techniques for more accurate early diagnosis
• Investigations into the increased risk of Alzheimer’s disease in individuals with Down syndrome
• Development of tailored educational and therapeutic interventions

As these research efforts progress, we may see new stamps issued to commemorate significant breakthroughs or to raise awareness about specific aspects of living with Down syndrome.

Philately as a Chronicle of Progress

How might future stamps continue to document advancements in Down syndrome research and advocacy? We can anticipate stamps that:

• Celebrate major research milestones or scientific breakthroughs
• Highlight the achievements of individuals with Down syndrome in various fields
• Promote inclusive education and employment practices
• Raise awareness about health issues specific to people with Down syndrome
• Commemorate significant anniversaries in the history of Down syndrome research

By continuing to issue stamps related to Down syndrome, postal authorities around the world can play a vital role in educating the public and promoting a more inclusive society.

The Intersection of Science and Art

The use of postage stamps to document the history of Down syndrome represents a unique intersection of science, art, and public communication. These miniature canvases have the power to convey complex ideas in visually striking ways, making them valuable tools for both education and advocacy.

Artistic Representations of Genetic Concepts

How do stamp designers translate complex genetic concepts into accessible visual formats? Stamp artists face the challenge of representing chromosomes, DNA structures, and other scientific elements in ways that are both accurate and visually appealing. This often results in stylized depictions that capture the essence of the science while creating engaging designs.

Some creative approaches seen in Down syndrome-related stamps include:

• Abstract representations of chromosome pairs
• Incorporation of DNA double helix motifs
• Use of vibrant colors to represent genetic diversity
• Integration of portraits or silhouettes to humanize the science

These artistic interpretations not only make the stamps visually interesting but also help make complex genetic concepts more approachable for the general public.

Collaborative Efforts in Stamp Design

What role do advocacy groups and scientific organizations play in the creation of Down syndrome-related stamps? Many stamps commemorating Down syndrome or related genetic research are the result of collaborations between postal authorities, advocacy organizations, and scientific institutions. These partnerships ensure that the stamps accurately represent current knowledge and promote positive messages about living with Down syndrome.

Examples of such collaborations might include:

• Input from Down syndrome associations on appropriate imagery and language
• Consultation with geneticists to ensure scientific accuracy
• Involvement of individuals with Down syndrome in the design process
• Partnerships with research institutions to highlight recent discoveries

These collaborative efforts result in stamps that are not only visually appealing but also scientifically sound and respectful towards the Down syndrome community.

The Global Reach of Philatelic Awareness

Postage stamps have a unique ability to traverse geographical boundaries, carrying messages and information to diverse audiences around the world. In the case of Down syndrome awareness, this global reach has been particularly impactful.

Cross-Cultural Understanding

How do Down syndrome-related stamps promote cross-cultural awareness and understanding? Stamps issued by various countries often reflect cultural attitudes and approaches to disability and inclusion. By collecting and studying these stamps, philatelists and the general public can gain insights into how different societies perceive and support individuals with Down syndrome.

Some examples of cultural diversity in Down syndrome philately include:

• Stamps featuring traditional cultural symbols alongside Down syndrome awareness messages
• Issues highlighting local advocates or organizations working with the Down syndrome community
• Designs incorporating multiple languages to reach diverse populations within a country

This international perspective fosters a more nuanced and global understanding of the challenges and triumphs associated with Down syndrome across different cultural contexts.

Philatelic Exchanges and Exhibitions

What role do philatelic exhibitions play in promoting Down syndrome awareness? Stamp exhibitions and exchanges provide opportunities for collectors to share their Down syndrome-related stamps and covers with a wider audience. These events often include educational components, allowing visitors to learn about the history of Down syndrome research and advocacy through the lens of philately.

Benefits of such exhibitions include:

• Increased public exposure to Down syndrome-related information
• Opportunities for collaboration between philatelists and advocacy groups
• Inspiration for new collectors to focus on this thematic area
• Potential to generate media coverage, further spreading awareness

By bringing together stamps from around the world, these exhibitions create a comprehensive narrative of Down syndrome awareness and research efforts on a global scale.

The Future of Down Syndrome Philately

As we look to the future, the intersection of Down syndrome awareness and philately is likely to continue evolving. New scientific discoveries, changing societal attitudes, and advancements in stamp production technology will all shape the way Down syndrome is represented in philatelic materials.

Technological Innovations in Stamp Design

How might emerging technologies impact the design and production of Down syndrome-related stamps? Several innovations could enhance the educational and awareness-raising potential of these stamps:

• Augmented reality features allowing users to access additional information via smartphone apps
• QR codes linking to educational websites or videos about Down syndrome
• Use of special inks or printing techniques to create interactive or sensory-rich designs
• 3D-printed stamps or covers that represent chromosomes or other genetic structures

These technological advancements could make Down syndrome-related stamps more engaging and informative, reaching new audiences and deepening understanding of the condition.

Expanding Thematic Coverage

What new themes or topics related to Down syndrome might future stamps address? As our understanding of Down syndrome continues to grow, we may see stamps focusing on:

• Specific genes on chromosome 21 and their functions
• Breakthrough treatments or interventions
• The aging process in individuals with Down syndrome
• Contributions of people with Down syndrome to art, science, or other fields
• Inclusive education and employment initiatives

By expanding the range of topics covered, future stamps can continue to educate the public about various aspects of life with Down syndrome and ongoing research efforts.

In conclusion, the history of Down syndrome discovery and awareness, as chronicled through philately, offers a unique perspective on how scientific understanding and societal attitudes have evolved over time. From John Langdon Down’s initial observations to modern genetic insights, postage stamps have served as miniature ambassadors, educating the public and promoting acceptance. As we look to the future, philately will likely continue to play a vital role in documenting advancements in Down syndrome research and advocacy, fostering global awareness and understanding of this complex genetic condition.

history of Down syndrome through philately

Abstract

Down syndrome (DS) is one of the most common chromosomal disorders with mental retardation and some spesific physical and physiological defects. Recently, many advances have been made in pre-natal screening and detection; and the hope is that identification of more genes will lead to a better understanding of the molecular mechanisms underlying the pathologies, and hence to more effective therapy. This paper provides an overview on the discovery of Down syndrome through philately.

Keywords: Down syndrome, mental retardation, genetics, history, philately

Özet

Down sendromu zihinsel gelişme geriliği ve kendine özgü fiziksel ve fizyolojik defektlerle seyreden, en sık rastlanan kromozom hastalıklarından biridir. Son dönemlerde hastalığın prenatal tarama ve tanısında birçok ilerlemeler kaydedilmiştir. Genlerin ve gen patolojilerinin altında yatan moleküler mekanizmaların daha iyi anlaşılaması daha etkili tedavi yöntemleri konusunda umut vermektedir. Bu çalışma, Down sendromunun tarihine filateli yoluyla ışık tutmaktadır.

Introduction

Down syndrome (DS), also known as trisomy 21, is caused by the presence of all or part of a third copy of chromosome 21 (). It is named after John Langdon Down, the British physician who described the syndrome for the first time in 1866. In 1866 he wrote a paper entitled “Observations on the Ethnic Classification of Idiots” in which he put forward the theory that it was possible to classify different types of conditions by ethnic characteristics. He listed several types including the Ethiopian type. He is most famous for his classification of what is known as Down syndrome, named after him, but which he classified as the Mongolian type of Idiot. As a result, Down syndrome was also known as “Mongolism” and people with Down syndrome referred to as “Mongoloids” but the use of the word ‘mongolism’ is now stopped after having so many criticisms about referring a racist title. Thus down syndrome occurs in all human populations, and analogous conditions have been found in other species such as chimpanzees (1).

a) Stamp issued in Romania in 2011, for the 21^st of March Down Syndrome Day; b) First Day Cover from Romania in 2011, for the 21^st of March Down Syndrome Day

The chromosome aberration was discovered in 1959 by the French human geneticist Jérôme Jean Louis Marie Lejeune (1926–1994). Dr. Jérôme Lejeune discovered that Down syndrome was caused by an extra chromosome on the 21^st pair while working in Raymond Turpin’s laboratory In 1958. The French Academy of Sciences published his scientific work on January 26, 1959. For the first time in world history, his discovery established a link between an intellectual disability and a chromosomal abnormality. After this discovery, an enormous field of investigation was opened up for modern genetics and a new discipline was founded: cytogenetics. Until then, the knowledge about human heredity had been unable to explain Trisomy 21 and other anomalies in hereditary material (2).

Nowadays, down syndrome can be identified in a baby at birth, or by prenatal screening.

Genetic Background

Down syndrome is a complex set of pathologies caused by an extra copy of human chromosome 21 (Hsa21). DS occurs in about one in 750 live births and is the most frequent cause of learning difficulties (). The underlying genetic cause, trisomy Hsa21, is the same in most individuals with DS, but the penetrance of the resulting pathologies (3).

Stamp issued in 1981 by Netherlands Antilles, in support of handicapped children, for the International Year of the Disabled

Genes on an extra copy of chromosome 21 are responsible for all characteristics associated with Down syndrome. Normally, each human cell contains 23 pairs of different chromosomes. Each chromosome carries genes, which are needed for proper development and maintenance of our bodies. At conception, an individual inherits 23 chromosomes from the mother (through the egg cell) and 23 chromosomes from the father (through the sperm cell) (3).

However, sometimes a person inherits an extra chromosome from one of the parents. In Down syndrome, an individual most often inherits two copies of chromosome 21 from the mother and one chromosome 21 from the father for a total of three chromosomes 21 (). Because Down syndrome is caused by the inheritance of three chromosomes 21, the disorder is also called trisomy 21. About 95% of individuals with Down syndrome inherit an entire extra chromosome 21 (4).

A stamp issued in Denmark in 2002

Approximately 3% to 4% of individuals with Down syndrome do not inherit an entire extra chromosome 21, but just some extra chromosome 21 genes, which are attached to another chromosome (usually chromosome 14). This is called a translocation. Most of the time, translocations are random events during conception (). In some instances however, a parent is a balanced carrier of a translocation: The parent has exactly two copies of chromosome 21, but some of the genes are distributed to another chromosome. If a baby inherits the chromosome with the extra genes from chromosome 21, then the child will have Down syndrome (two chromosomes 21 plus extra chromosome 21 genes attached to another chromosome) (3, 4).

A special cancellation from Luxembourg in 2003, emphasising Trisomie 21

About 2% to 4% of people with Down syndrome inherit additional genes from chromosome 21, but not in every cell of the body. This is known as mosaic Down syndrome. These individuals may, for example, have inherited extra genes from chromosome 21 in their muscle cells, but not in any other type of cell. Because the percentage of cells with extra genes from chromosome 21 varies in people with mosaic Down syndrome, they often don’t have all the typical physical characteristics and may not be as severely intellectually impaired as people with full trisomy 21 (). Sometimes, mosaic Down syndrome is so mild that it will go undetected. On the other hand, mosaic Down syndrome can also be misdiagnosed as trisomy 21, if no genetic testing has been done (3).

A special cancellation from Tahiti in 2007, emphasising Trisomie 21

Signs and Symptoms

Most individuals with DS have memory and learning difficulties, craniofacial alterations and muscle hypotonia, but only some have congenital heart malformations, leukaemia or gut abnormalities. The severity of the defects is variable. For example, the extent of cognitive impairment varies widely between individuals with DS (5).

The signs and symptoms of Down syndrome are characterized by the neotenization of the brain and body to the fetal state. Down syndrome is characterized by decelerated maturation (neoteny), incomplete morphogenesis (vestigia) and atavisms. Individuals with Down syndrome may have some or all of the following physical characteristics: microgenia (abnormally small chin), oblique eye fissures with epicanthic skin folds on the inner corner of the eyes (formerly known as a mongoloid fold), muscle hypotonia (poor muscle tone), a flat nasal bridge, a single palmar fold, a protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils) or macroglossia, “face is flat and broad”, a short neck, white spots on the iris known as Brushfield spots, excessive joint laxity including atlanto-axial instability, excessive space between large toe and second toe, a single flexion furrow of the fifth finger, a higher number of ulnar loop dermatoglyphs and short fingers (5).

Growth parameters such as height, weight, and head circumference are smaller in children with DS than with typical individuals of the same age. Adults with DS tend to have short stature and bowed legs. Individuals with DS are also at increased risk for obesity as they age (5).

Conclusion

Many children with Down syndrome who have received family support, special therapies and education manage to graduate from high school and are able to do paid work, and some participate in post-secondary education as well. Early childhood intervention, screening for common problems, medical treatment where indicated, a conducive family environment, and vocational training can improve the overall development of children with Down syndrome. As individuals with DS continue to experience longer lives, the need to understand their aging and associated health conditions becomes more critical. Education and proper care will improve quality of life significantly, despite genetic limitations. Especially adults with DS should be provided with appropriate information to better understand, and counseling to cope with, changes in their own level of ability or health.

Myths & Truths – NDSS

Myths & Truths – NDSS

Myths & Truths About Down Syndrome

MYTH: Down syndrome is a rare disorder.

TRUTH: Down syndrome is the most commonly occurring chromosomal condition. Approximately one in every 700 babies in the United States is born with Down syndrome, or around 6,000 births per year.

MYTH: Down syndrome is hereditary and runs in families.

TRUTH: Translocation, a type of Down syndrome that accounts for 3 to 4% of all cases, is the only type of Down syndrome known to have a hereditary component. Of those, one third (or 1% of all cases of Down syndrome) are hereditary.

MYTH: Most children with Down syndrome are born to older parents.

TRUTH: Most children with Down syndrome are born to women younger than 35 years old simply because younger women have more children. However, the likelihood of having a child with Down syndrome increases with the age of the mother, especially after age 35.

MYTH: Parents will not find community support in bringing up their child with Down syndrome.

TRUTH: In almost every community of the United States there are parent support groups and other community organizations directly involved in providing services to families of individuals with Down syndrome. You can find a list of groups at http://www.ndss.org/Resources/Local-Support.

MYTH: All people with Down syndrome have a severe cognitive disability.

TRUTH: Most people with Down syndrome have a mild to moderate cognitive disability, or intellectual disability. This is not indicative of the many strengths and talents that each individual possesses. Be considerate of the extra time it might take a person who has a disability to get things done or said.

MYTH: People with Down syndrome are always sick.

TRUTH: Though people with Down syndrome are at an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, and thyroid conditions, advances in health care and treatment of these conditions have allowed for most individuals with Down syndrome to lead healthy lives.

MYTH: Scientists know everything there is to know about Down syndrome.

TRUTH: Though we know that an extra full or partial copy of chromosome 21 causes the characteristics of Down syndrome, researchers are making great strides in identifying how individual genes on chromosome 21 affect a person with Down syndrome. Scientists now feel strongly that it will be possible to improve, correct or prevent many of the problems associated with Down syndrome in the future.

MYTH:  Segregated special education programs are the only option for students with Down syndrome.

TRUTH: Students with Down syndrome are included in typical academic classrooms in schools across the country. The current trend in education is for full inclusion in social and educational settings. Sometimes students with Down syndrome are included in specific courses, while in other situations students are fully included in the typical classroom for all subjects. Increasingly, individuals with Down syndrome graduate from high school with diplomas, and participate in postsecondary academic and college programs.

MYTH: People with Down syndrome cannot be active members of their community.

TRUTH: People with Down syndrome are active participants in educational, social and recreational activities. They are included in the typical education system and take part in sports, music, art programs and any other activities in the community. People with Down syndrome are valued members of their families and communities, and make meaningful contributions to society.

MYTH: People with Down syndrome are always happy.

TRUTH: People with Down syndrome have feelings just like anyone else. They experience the full range of emotions. They respond to positive expressions of friendship and are hurt and upset by inconsiderate behavior.

MYTH: Adults with Down syndrome are the same as children with Down syndrome.

TRUTH: Adults with Down syndrome are not children, and should not be considered children.  They enjoy activities and companionship with other adults, and have similar needs and feelings as their typical peers.

MYTH: Adults with Down syndrome are unable to form close interpersonal relationships leading to marriage.

TRUTH: People with Down syndrome socialize and have meaningful friendships. Some choose to date, maintain ongoing relationships and marry.

MYTH: Adults with Down syndrome are unemployable.

TRUTH: Businesses employ adults with Down syndrome for a variety of positions – in banks, corporations, hotels, hospitals, nursing homes, offices and restaurants. They work in the music and entertainment industry, in clerical positions, childcare, the sports field and the computer industry, to name a few. Like anybody else, people with Down syndrome want to have a job where their work will be valued.

MYTH: It is ok to use the “r-word” if you don’t really mean it.

TRUTH: It is never acceptable to use the word “retarded” in any derogatory context. Using this word is hurtful and suggests that people with disabilities are not competent.

Meet an Athlete Ambassador

“I love being an ambassador for NDSS because it shows others they can do things like run 5 half marathons if they want to and train really hard. I love that I get to wear my NDSS gear for my races so I can inspire others.”

— Kayleigh Williamson

Learn More

Down Syndrome History

Down syndrome or Down’s syndrome is a congenital condition caused by the presence of an additional copy of chromosome 21 in a person’s cells. This is also referred to as trisomy 21.

Humans usually have 46 chromosomes in every cell, with 23 inherited from each parent. Due to the extra copy of chromosome 21, people with Down’s syndrome have 47 chromosomes in their cells. This additional DNA causes the physical characteristics and developmental problems associated with the syndrome.

Down’s syndrome was first described by an English physician John Langdon Down in 1862, who helped to differentiate the condition from mental disability. He used the term “mongoloid” to describe the condition, due to his opinion that children with Down’s syndrome shared similar physical features to people from the Blumenbach’s Mongolian race. This term for the condition became less common after the 1970’s due to its inaccuracy and the fact that it was considered pejorative.

Historically, many individuals with Down’s syndrome were killed, abandoned or ostracised from society. In the 20th century, it was common for these individuals to be institutionalized and they did not receive appropriate treatment for the associated medical complications such as heart disorders, vision defects and intestinal problems. Many children with Down’s syndrome therefore used to die during infancy or early adulthood.

As the eugenics movement came into being, the forced sterilization of individuals with Down’s syndrome was introduced to 33 of the 48 states that then existed in the United States. The sterilization programs reached large proportions until protests from the general public led to their discontinuation. At this point in history, the cause of Down’s syndrome was not understood. It was assumed that several genetic factors, older maternal age, birth injuries, and injury during pregnancy caused the illness.

It was only in the mid-twentieth century, (the 1950s) that karyotype techniques were discovered, which could be used to help identify the shape and number of chromosomes. This led to the understanding that trisomy 21 was the cause of Down’s syndrome, a finding that was reported by Jérôme Lejeune in 1959. Lejeune’s claim that he discovered the extra copy of chromosome 21, however, has been disputed and in 2014, the Scientific Council of the French Federation of Human Genetics awarded Marthe Gautier with the Grand Prize for this discovery.

Further Reading

National Association for Down Syndrome

Background Information

T

he Origins of the Term Down Syndrome

In 1866 British physician, John Langdon Down, for whom the syndrome is now named, first described Down syndrome, as “Mongolism. ”  The term Down syndrome didn’t become the accepted term until the early 1970s.  More was learned about the condition in 1959 when French Pediatrician/Geneticist Professor Jerome Lejeune discovered that individuals with Down syndrome have an extra chromosome—just one year before NADS was founded. Shortly thereafter, chromosome studies were developed to confirm the diagnosis of Down syndrome.

Historical Climate

During the first half of the twentieth century in the United States, the majority of children with Down syndrome were placed in institutions – frequently soon after birth. This resulted in great human sacrifice for those individuals and for their families, who were convinced, often by members of the medical community, that the child was less than human and that their needs would be so great, their families would not be able to raise them. These children were “warehoused” in large state institutions – often in deplorable conditions – locked away so that the rest of society could not see the horror of their lives.

This was the climate that the founders of the National Association for Down Syndrome had to deal with when their children were born in 1960.

The Early Days of NADS

The National Association for Down Syndrome (NADS) is the oldest organization in the United States serving children and adults with Down syndrome and their families. It was founded in Chicago in 1960 by Kay McGee shortly after her daughter Tricia was born with Down syndrome.  In those days the standard operating procedure in hospitals was for physicians to advise parents to institutionalize their newborn infants with Down syndrome. Parents who did not follow this advice took their babies home without support or services.  Kay and Marty McGee chose to ignore the advice of their pediatrician and they took Tricia home.  After the initial shock of learning that their baby had Down syndrome, Kay, with the support of Marty, began to reach out to professionals and other parents of children with Down syndrome, and that was the beginning of an organization that would always recognize the great value of individuals with Down syndrome and of parents helping parents.

In the sixties and early seventies, the condition was not known as Down syndrome but “Mongolism,” and the original name of the organization was Mongoloid Development Council (MDC). With the help of a few other parents, Kay formed an informal board, and for many years their meetings were held in the home of Kay and Marty McGee.  Kay ultimately became the Executive Secretary, and she was the driving force behind the organization from 1960 to 1975. (Kay actually completely filled the role of president, but in 1960, women were not usually seen as presidents of organizations.) In addition to the day-to-day running of the organization—handling all phone calls in her home, doing the clerical work and information flyers (keep in mind that NADS didn’t begin using computers until 1989)—Kay organized regular meetings for parents in downtown Chicago, bringing in speakers from as far away as Germany. All the Down syndrome conferences in the 1960’s and early 1970’s were held in the Chicago area. Kay and the other parent founders of NADS were truly pioneers as they developed support systems for each other and especially for new parents.

In the 1960’s there were no mandated programs or services for children with special needs, so many parents started programs in church basements and in other community buildings. Many of the private agencies that currently serve adults with developmental disabilities throughout the Chicago area were started in this way. They not only built a strong foundation for our organization, but they also fought vigorously for early intervention and education services locally and nationally. We will be forever indebted to those courageous parents.

Parents and Professionals Working Together

From the beginning, NADS parents worked closely with professionals – people such as Julia Molloy, a wonderful speech therapist who was a great source of information, encouragement and strength for our parents. (Molloy School in Morton Grove was named for her.) Another professional who was very active was Delilah White, a psychologist at the Levinson Institute.  And later Dr. George Smith, a physician, author and researcher, also worked closely with NADS. So, from the beginning, even though the organization was mainly “parent driven,” we have always had professionals actively involved on our board of directors and on our committees. In addition many fine professionals throughout the years have given of their time and talent by giving informative presentations at our conferences, annual meetings and at our behavior retreats. They have also worked with our children and adults on many levels, and they have added valuable dimensions to our organization.

Building a Strong Organization

Name Change

Even though MDC primarily served the Chicago metropolitan area, the organization received requests for information from all over the country.  Therefore in 1972 when a decision to remove what became known as the “M” word from our name and materials, the organization changed its name to National Association for Down’s Syndrome. (The apostrophe s in Down’s was officially dropped in the early 1980’s.) It’s important to remember that NADS was founded 12 years before the National Down Syndrome Congress was formed and almost 20 years before the National Down Syndrome Society. However, our board of directors was comprised of people from the Chicago metropolitan area and, therefore, in 1972, Kay McGee and other NADS leaders spent a good deal of time with parents and professionals from other parts of the country helping to establish a new national organization.  The Down Syndrome Congress was founded in 1973, and Kay McGee was elected to be its first Treasurer and NADS Board President Lucille Msall became Recording Secretary. Later the DSC added “National” to their name. Their board members were and still are from many states, which provides them with a strong national representation and perspective.

NADS continues to receive requests for information from all over the U.S. and our newsletter, audio/visual programs, print materials and our website are used by families and professionals throughout the country and beyond. However, some of our programs such as our Parent Support, Hospital Development and Mentoring Programs are only available in the Chicago metropolitan area.  Also, the services we provide through our collaboration with the Adult Down Syndrome Center are limited to the state of Illinois.

History of the Parent Support Program

During the 1960’s and early 1970’s Kay McGee and Marjorie Lee, whom Kay described as “the most knowledgeable and involved parent there was,” would visit hospitals where they pleaded with nurses in the newborn nurseries to notify them when a baby was born with Down syndrome. In that way, they were able to connect with new families and provide them with the support they needed. (Ah, the things you could do before the HIPAA regulations).

Sheila Hebein becomes Executive Director

Sheila and Peter Hebein’s son, Christopher, was born in June 1972 and was diagnosed with Down syndrome just a few hours after his birth. The Hebeins were much more fortunate than the McGees when being told of their child’s Down syndrome diagnosis. Even though in 1972 some parents were still being advised by doctors to institutionalize their child, the Hebeins had a very sensitive pediatrician and he gave them good information and said “So much more is being done for children with Down syndrome now and the most important thing you can do for him is to love him.”

Sheila and Peter had a wonderful support system of friends and family and they were blessed in that Chris has enjoyed good health.  Chris went to early intervention programs, to a special education school, to a Montessori school, 2 regular education schools and he graduated from Park School in Evanston in 1993. Park School provided Chris with an excellent education including a vocational program and he had several training opportunities in the community. During his final year of school, his vocational coordinator developed a job for him as a mail clerk.  When he graduated he began working in that it position 40 hours a week. He has been in the same job for the past 19 years. Chris gets to and from work on the Chicago public transit system – he enjoys his job and is considered a valued member of his company.  Chris has lived in the Evanston community all his life – he is an active member of St. Nicholas Church, serving for over 25 years as an altar server. He started playing the piano when he was 13 years old, he composed and performed for many years and even though he no longer takes piano lessons, he plays every day and continues to enjoy music.  Chris has many interests, loves sports and social events. He has enjoyed quite a different life than those born with Down syndrome just a generation earlier.

Sheila was elected to the board of directors of NADS in 1974 and served on the board before becoming Executive Director in 1979. She served in this position for 30 years and retired in 2009.  She continues to be involved with NADS working on special projects and still serves on the team of the Adult Down Syndrome Center, attending meetings and providing a parent perspective.

As Executive Director of NADS Sheila developed all the following programs.  She was involved on a national level, working closely with the 2 national organizations, the National Down Syndrome Congress and the National Down Syndrome Society and in later years, with the Down Syndrome Affiliates in Action.  She also worked with many professional organizations throughout the years.

Development of Parent Support Program

Even though things were improving in the area of education (see Special Education for Children with Disabilities below), NADS leaders were still concerned that many new parents throughout the Chicago metropolitan area were not receiving the kind of medical care and support they so desperately needed when their baby was born with Down syndrome.  Parents were taking their baby home from the hospital without accurate information and ongoing support. In fact, many were completely isolated in their communities.Therefore, in 1979 NADS developed a program that would train parents of children with Down syndrome to provide sensitive support to new families.

This formal training program was designed to teach parents to become “Parent Support Volunteers.” We recruited parents from all over the Chicago metropolitan area to participate in this important training. The two-day training prepared them for the variety of situations they would encounter in working with new families. A psychologist offered guidance about how to respond to families in crisis. A developmental pediatrician and a geneticist covered the kinds of health-related questions new parents might have—an important area, since many children with Down syndrome are born with heart defects or other serious medical problems. In order to maintain a fresh group of volunteers, NADS provided training for new groups of Support volunteers every 2 to 3 years. In the later training sessions, we added a panel of experienced support volunteers who shared their experiences. This veteran group discussed many of the significant issues a parent support volunteer might face, including how to take into account the different reactions of the mother and the father, how to distinguish between support and counseling, how to offer support to parents who had not yet decided whether to keep their baby, and how to help a family through a medical crisis. By the end of the second day of training, the volunteers were prepared for almost any scenario.

Local Support Groups

Because NADS served the whole Chicago metropolitan area, it was difficult to get people together on a regular basis. In the sixties and early seventies we held 4 meetings a year in downtown Chicago, but as the organization grew, we looked for ways to grow local support groups to make information more accessible for all families.

The first local support group in Chicago was started on the north shore in the mid-seventies by Sheila Hebein, who believed strongly in a grass roots approach to community organizations. A few years later individuals in other parts of the Chicago area felt a need to meet regularly with other parents and so groups such as Ups for Downs, Downs Development Council and the West Suburban Support Group for Down Syndrome were formed. These local groups continue to play a critical role in providing ongoing support and education to parents.

During the 1990s several support groups were developed for parents of adolescents with Down syndrome.  A group was also formed for parents whose children with Down syndrome had challenging behaviors.

Temporary Foster Care

In 1982 a very important aspect of our support to new parents was our temporary foster care program. This program was established because we found that several sets of parents, within a very short period of time, had relinquished their rights to their child before the baby was a week old. Therefore, we worked with the Illinois Department of Children and Family Services and a private adoption agency, and several NADS families became licensed foster families. Our families provided loving care on a volunteer basis. NADS paid for their out-of-pocket expenses, but they volunteered their love and care. Initially the majority of children cared for by our foster care families were ultimately adopted.However, during 1992 we provided foster care for four infants, and three of the four later went home to their biological parents, and we facilitated adoption for the fourth child. We discontinued our foster care program in 1995 because of difficulties with the Illinois Department of Children and Family Services. However, we continue to facilitate adoption when necessary, but an adoption agency now handles the intensive counseling for the biological and adopting parents. At the present time it is less common for parents to relinquish their rights to their child with Down syndrome. However, in some circumstances adoption is the best option for the baby and for the biological families, and the Down syndrome community has been blessed with many wonderful adoptive families.

Hospital Education Programs

Even though NADS had trained support volunteers willing to assist new parents, we were still faced with the challenge of obtaining regular referrals of all new parents in the Chicago metropolitan area. In order to address this problem we developed an education program for medical professionals.

Shortly after our Parent Support Training, NADS developed an audio/visual program, “You Don’t Outgrow Down Syndrome, Counseling Parents.”  With this tool, Sheila Hebein, Executive Director, presented hospital education programs in Chicago area hospitals for pediatricians, obstetricians, geneticists, residents, social workers, nurses and other professionals who worked with new parents. This proved to be a very effective way to educate the medical community and it proved to be a good way for us to develop cohesive referral services for new parents. When this program started in 1980, NADS received only 15 direct referrals from Chicago area hospitals, but 10 years later, we were receiving 150 direct referrals.

The primary goals of our Hospital Education Programs were and still are:

• Provide physicians, residents, nurses and social workers with up-to-date information on Down syndrome and prepare them to give sensitive care and support to parents of newly diagnosed infants with Down syndrome. This is accomplished through our in-services, which are conducted in hospitals or in the offices of physicians.
• Maintain up-to-date materials for medical professionals.
• Develop effective referral systems in the medical community to ensure that new parents are directly referred to our Parent Support Program whenever possible.

Because there were over a hundred hospitals in the Chicago metropolitan area, the need for our education programs was also growing, so in 1984 NADS trained its first group of Public Speakers, and since that time our staff and trained volunteers have provided education programs in Chicago area hospitals.  Throughout the years we have continued to train parents to be public speakers.

Complex Medical Issues

Baby Doe Law

In the 1970s and early 80’s, NADS and other advocates fought against the practice of some medical professionals who recommended that infants with Down syndrome not receive life-saving surgeries for conditions such as duodenal atresia or esophageal atresia. Instead they wrote orders that the babies not be fed, and the end result was that babies were starved to death in quiet corners of some hospitals.

In 1982, a Bloomington, Indiana baby with Down syndrome, known as Baby Doe, was born with esophageal atresia. Because the baby had Down syndrome, the parents were encouraged by their doctor not to give permission to operate. When word of the situation became public, a dozen families came forward and offered to adopt the baby. The offers were refused. The parents, their doctors, and the Supreme Court of Indiana said they had the right to starve the child to death. The baby died seven days after birth, before the U.S. Supreme Court could hear an appeal to the Indiana decision. This case and that of Baby Jane Doe in New York outraged advocates, who worked tirelessly to get the U.S. Congress to pass legislation in 1984 prohibiting the withholding of “medically indicated” treatment from any child born with a disability.

The Surgeon General of the United States at the time of these incidents, C. Everett Koop, stated publicly that he disagreed with such withholding of treatment. In his decades as a pediatric surgeon, Dr Koop had repaired hundreds of such defects, with a continually improving rate of success. By 1982, success was nearly certain if the surgery was performed. Because of the public outcry, the Baby Doe Amendment was added to the Child Abuse Law passed in 1984 in the United States, and it set forth specific criteria and guidelines for treatment of seriously ill and/or newborns with disabilities. This law mandates that states receiving federal money for child abuse programs develop procedures to report medical neglect, which the law defines as the withholding of treatment unless a baby is irreversibly comatose or the treatment is “virtually futile” in terms of the newborn’s survival.  Opinions about a child’s “quality of life” are not valid reasons under this law for withholding medical care.

This was the climate that NADS was trying to navigate as these complex issues arose. Sheila Hebein, NADS’ Executive Director, served on the Pediatric Bioethics Committee of Lutheran General Hospital for several years during this time. She learned a lot about the complexities of many situations that parents had to deal with, and she was able to contribute much to the discussion from a parent’s perspective.

The Dilemma of Down Syndrome and Early Detection

In 2007 NADS’ Executive Director spoke at a conference for Genetic Counselors:

Now that Down syndrome can be detected earlier, our concern is that the medical community, which has shown biases in the past, will once again be placed in a position of great influence over life and death decisions. Will doctors be able to sensitively discuss the diagnosis with the parents? Will they be able to tell of the gifts as well as the challenges? Will they give the parents a balanced picture so that they can make an informed decision about what is best for them – for ultimately, it is the parents’ decision to make. They could even say no to the testing.

Perhaps one of the problems is that unlike pediatricians and family practitioners, obstetricians and most genetic counselors don’t often encounter children with Down syndrome in their practices. They don’t see the baby they gave dire predictions about grow to be a beautiful child. They don’t know that children and adults with Down syndrome are now very much part of our communities – not hidden away but celebrated and cherished by their family and friends. Many children with Down syndrome grow up to be artists, dancers, musicians, figure skaters, soccer players, students, employees, voters and just plain old citizens. However, regardless of their abilities or challenges, our children should not have to earn a place in our society. NADS has always fought for a level playing field for children with Down syndrome before and after they are born.

Education

Special Education for Children with Disabilities

After many years of hard work by parents and other advocates, education for all children with disabilities became a federal law. On Nov. 29, 1975, then-President Gerald Ford signed into law the Education for All Handicapped Children Act (Public Law 94-142).

In adopting this landmark civil rights measure, Congress opened public school doors for millions of children with disabilities and laid the foundation of the country’s commitment to ensuring that they have opportunities to develop their talents, share their gifts, and contribute to their communities.

In the last 35 years, expectations for all students, including students with disabilities, have expanded. Classrooms have become more inclusive and the future of children with disabilities brighter. Significant progress has been made toward protecting the rights of, meeting the individual needs of, and improving educational results for infants, toddlers, children, and youths with disabilities.

Since 1975, policies and practices that meaningfully include students with disabilities in general education classrooms and accountability systems have proliferated. In 2010 nearly 60 percent of students with disabilities were in general education classrooms 80 percent or more of their school day.  Early intervention services are now provided to nearly 350,000 infants and toddlers with disabilities and their families, and over 6.6 million children and youths receive special education and related services designed to meet their individual needs.

In 2010, the 35th anniversary of the passage of Public Law 94-142 was celebrated. It is now known as the Individuals with Disabilities Education Act (IDEA).

For more information on Public Law 94-142 go to:http://idea.ed.gov/explore/home.

Education Within NADS

Even though federal and state laws mandated free appropriate education for all children with disabilities, NADS families still had to fight for their child’s rights, and we developed programs to assist in this effort:

Education Facilitators

In 1987 NADS trained a group of parents to be Education Facilitators–i.e. they were trained to assist parents experiencing problems with their school districts. Unfortunately because of family responsibilities and work schedules, volunteers were not usually available during the week when school meetings were scheduled, so NADS staff members provided advocacy and assistance to families dealing with education challenges.

Parent-to-Parent Program

For many years NADS has provided support and information to families who call on us for assistance with school issues.  Often the questions are about inclusion versus special education settings. Sometimes there are questions about IEPs and strategies for successful school experiences for our children. Another set of issues pertains to appropriate support for transitions from elementary to high school and, one of the most difficult transitions – from high school to post-secondary programs. We receive regular phone calls from out of state families moving toIllinois. They frequently ask us about the philosophy of school districts and what their track record is in educating children with Down syndrome. Those involved in our Parent-to-Parent Network were willing to share their experiences with other parents who were interested in learning more about school districts in the Chicago metropolitan area.

Education Programs for Students

NADS staff and trained public speakers have provided education programs in schools for students in elementary, junior high, high school and college. These presentations have emphasized the fact that children with Down syndrome are children first and have gifts and challenges just like other children.

NADS Conferences

NADS has held conferences in the Chicago area since the early 1960’s – Professor Jerome Lejeune gave presentations several times in the 1960’s, 70’s and in 80’s. Since 1980 NADS has held a conference every other year featuring an array of local and national speakers, including physicians, researchers, educators, therapists, parents and individuals with Down syndrome. Topics addressed have included health issues, communication skills, reading, sensory processing, post secondary programs, and many other subjects of interest to parents and professionals.

A conference for teens and adults with Down syndrome runs concurrently with the conference for parents and professionals. Some of the topics covered have included: social relationships, health issues, safety in the community, and work skills; participants also have an opportunity to take part in interactive drama and dancing.

In later years workshops were also offered in Spanish, and our Spanish-speaking parents were able to receive information in their native language – topics such as the IEP process, education rights and developing strategies to succeed at school and in the community.

Meeting the Needs of Adults with Down Syndrome

During the early and mid 1980s, NADS’ primary focus was on education and support to families of children with Down syndrome. However, by the late 1980s we became more aware of the needs of adults with Down syndrome and their families. We received calls from parents whose son or daughter lived at home but had not gone to school and had been hidden within their families. We received desperate phone calls from parents who could not find even basic medical care for their son or daughter. We also found individuals with Down syndrome who had been institutionalized at birth and had no contact with their families – this group of men and women had been moved out of large state institutions into group homes or nursing homes, which in some instances were not much better than the large institutions. We asked ourselves the question – if we don’t help this group of adults who have been shunned and neglected all their lives – who will? We determined that NADS would try, and we set about looking for better ways to serve our adults.

NADS Fellowship for Adults

In 1989 NADS developed a fellowship with The Family Study and Service Program at the University Affiliated Program (UAP) for Developmental Disabilities, University of Illinois at Chicago. Through the UAP fellowship we obtained the services of Dennis McGuire, who had an extensive background in family counseling. Dennis was finishing his final year of study for a PhD in social work. He was assigned to NADS 20 hours per week, and in return we provided the UAP with a $10,000 fellowship.  Dennis did home visits throughout the Chicago metropolitan area and provided wonderful counseling and referral services. After obtaining his PhD, Dennis was hired by the UAP as a Family Counselor, but NADS was able to negotiate with the UAP to allow us to retain Dennis as our “fellow.” It soon became obvious to us that medical conditions were closely related to some of the psychosocial problems we encountered.  Therefore we began to search for ways that we might expand the work Dr. McGuire had been doing with our families.

We searched far and wide to see if we could find a program that focused solely on the medical and psychosocial needs of adults with Down syndrome, and there was no such program. Therefore, we had to develop one. [For more about the development of this program, see “A Partnership to Celebrate” under the history menu at www.nads.org.

Adult Down Syndrome Center

After several years of searching and coaxing, NADS was successful in securing a commitment from Lutheran General Hospital in Park Ridge to serve adults with Down syndrome. The Adult Down Syndrome Center (ADSC) opened in January 1992 and Dr. Brian Chicoine was appointed Medical Director.  This marked the beginning of a unique collaboration between NADS and Lutheran General Hospital. Initially Dr. McGuire split his time between the Center and theUAP but in March 1998 he joined the staff at the ADSC full-time as Director of Psychosocial Services.When the Center opened in 1992 patients were served 2 mornings a month, but by 2011 because of the huge demand, patients are now seen 5 days a week with 2 full-time physicians, a full-time nurse practitioner, 3 certified medical assistants, a full-time RN, a patient representative, a nutritionist, an outreach worker and patient advocate.  NADS has always played an active role on the team of the ADSC, and we are very proud of this unique collaboration and the wonderful care teens and adults receive at the Adult Down Syndrome Center. NADS has helped fund the positions of outreach, patient advocate and part of the services provided by Dr. McGuire.  In 2011 NADS was presented with a plaque recognizing that NADS has provided more than a million dollars to the ADSC. The Center has served over 5,000 individuals, and in 2011 there were over 7,000 patient visits.

Specialized Respite Care Program for Adults

Through the work of the Adult Down Syndrome Center NADS became aware of some families in crisis, and we developed a program to address their needs. The Specialized Respite Care Program was a short-term program designed to assist families in great need of immediate intervention. It was limited to individuals who were homebound or had an unusual family crisis.  This program was developed by NADS and was administered through the Patient Advocate at the Adult Down Syndrome Center and through a local agency that provided respite care services.

Work Experience Program

During the 1990s and early in the 2000s, individuals with Down syndrome were graduating from High School or from special education programs with no job skills and with very few options after graduation. Therefore, because NADS had an office at the Adult Down Syndrome Center, we developed a work experience program, which could be used by students who attended school close to the Center.

NADS developed this program to provide teens and adults with Down syndrome office experience that would help prepare them to enter the job market. We also gave them an opportunity to learn appropriate work etiquette, such as dependability, punctuality, communication, task completion, wearing proper attire and other skills required for successful employment.

Our staff member whose office was at the Adult Down Syndrome Center coordinated this program, and she contacted local high schools every year informing them of this opportunity. The number of students varied from year to year, depending on the response of the high schools. Our staff member prepared the work, which included a variety of office tasks, such as copying, collating and preparing mailings and patient packets. However, a job coach accompanied each student and was responsible for their supervision.

This program ended when the demand for medical services significantly increased at the Adult Down Syndrome Center and space for the students was not available.

Adult Mentoring Program

NADS also found that many adults with Down syndrome were lonely. While many participated in recreation programs and Special Olympics, some were quite isolated, and so we developed a unique program to address this need.  The NADS Mentoring Program was developed in 1997, and even though it has been difficult to maintain, when successful matches are made and friendships developed, we have found it to be well worth the effort.

The goals of this program are to provide support to adults with Down syndrome who fall into the following categories:

• Young adults who are out of school and living at home.
• Adults in need of assistance to get involved in their community.
• Older adults who have not received services and have become isolated.

Our ultimate goal is to create an environment whereby adults with Down syndrome have an opportunity to make new friends. We make an effort to match on the basis of interests, but because we hope to develop ongoing relationships, geographic location is a very critical factor. Each mentor was asked to be in phone contact with his or her friend once a week and to plan a get together once a month.

Meeting the Needs of the Underserved in the Down Syndrome Community

During the late 1990s NADS became aware that some of our children with Down syndrome had additional diagnoses, such as Autism or Attention Deficit Hyperactivity Disorder. After doing some research, we decided to develop a program focusing on the needs of these children and their families, who were feeling very isolated; some even expressed that they didn’t feel welcome in the Down syndrome support system because of their child’s challenging behaviors.

Family Behavior Retreat

Beginning in 1998, NADS provided a weekend retreat for families whose child with Down syndrome had an additional diagnosis, such as Autism or ADHD.  The Family Behavior Retreat was usually held in the spring of each year.  During the Retreat, children were cared for by experienced respite workers and spent the weekend engaged in fun activities, such as swimming and music therapy, while parents focused on learning new ways to help their child.  We kept the numbers small so that we could provide a nurturing environment for families.

The Retreat was offered as a way for families who were under a great deal of stress to have a respite from the demands of their daily lives. For the children we ensured a one-on-one ratio of respite workers to children in order to ensure that the children could safely enjoy the activities planned for them.  For parents, we provided a variety of experienced professionals who addressed issues of concern to them and who gave them practical strategies for coping with the communication and behavioral challenges of their child. Many wonderful professionals were very helpful and generous with their time – two who came back year after year were Dr. Lou Weiss and Dr. Michael Feld. We also brought families together who might not otherwise have had a chance to meet; the retreat made it possible for them to share their stories and find support and encouragement from each other.

In recent years, the format of the retreat has changed to one-day programs held more frequently to enable more families to participate.

Serving the Hispanic Community

Even though NADS had been training Spanish-speaking support volunteers for many years and some of our materials, including our booklet for new parents, A Baby First, were available in Spanish, we realized that the needs in the Hispanic community were not being adequately met, and in 2005, we hired a Bi-lingual Coordinator to help us better serve these families. We developed the following programs to help us address their needs:

In 2005 NADS developed a pilot program to help improve and expand our services to Spanish speaking families in the Chicago metropolitan area. This was an important step because more than 25% of all new families we served that year were Hispanic, and the number was increasing. This pilot program was then incorporated into our regular services when our Bi-lingual Coordinator became a member of our staff.  She now works closely with new parents, and she also provides educational advocacy.

Our booklet A Baby First has been published in Spanish for many years and our brochures are also available in Spanish. In addition to training bi-lingual support volunteers for many years we have conducted training sessions for those who only speak Spanish, and they are available to work with our new families.

NADS conferences have also included workshops in Spanish, and we provided translation services for the general sessions.

NADS Involvement with Down Syndrome Research

From the very beginning, NADS has been interested in Down syndrome research.  In the 1960s and 1970s, we invited many researchers to speak at our conferences. They reported on medical, cognitive and educational research projects not only from the U.S., but also from Great Britain, Germany, France and many other parts of the world.

Megavitamins and Minerals

From the 1940s the issue of treating children with Down syndrome with mega vitamins was a topic of interest to parents of children with Down syndrome. In the 1940’s a physician in Detroit, Dr. Henry H. Terkel, developed a mixture of vitamins and minerals, which became known as the U-series. By the 1950s Terkel was focusing mostly on Down syndrome.  Many parents were anxious to do anything that might help their child, and so they put their children on Dr. Terkel’s program.

In 1981 Dr. Ruth Harrell and colleagues at Old Dominion University in Virginia published a report that made everyone sit up and take notice. This was a small study with only 16 participants.  Dr. Harrell reported that some children with Down syndrome who had been given mega doses of vitamins and minerals had increased IQ scores as high as 25 points in one case.

Many NADS parents contacted NADS to ask about the Harrell study, and it was determined that doing a double-blind, well controlled study could be beneficial not only to NADS families, but to families across the country and beyond.

Use of Megadoses of Vitamins with Minerals in Down Syndrome – Chicago Study

George F. Smith, MD,
Donna Spiker, Ph.D.
Carol P. Peterson, PhD,
Dante Cicchetti, PhD
Parvin Justine, Ph.D.

In 1981 NADS worked closely with Dr. George Smith and his team to put this important study together.  We recruited children to participate in the study, which was conducted at Illinois Masonic Hospital in Chicago. In addition, NADS provided some funding for this study.

The purpose of the study was to evaluate the effects of mega doses of vitamins and minerals on the cognitive intelligence of children with Down syndrome. There were a total of 56 children and they were separated into 2 groups with 28 children in each group. The average age in each group at the beginning of the study was 11 years. This was an 8-month study, and children were evaluated at baseline, 4 months and 8 months with psychological tests, physical exams and blood tests. The results showed that both groups of children made improvement over the 8-month period, but no difference were found between those children taking the megavitamins and those taking placebos.

A complete report on this study was published in The Journal of Pediatrics, Vol. 105. 2,pp. 228-234, August 1984.

Congenital Heart Research

Nancy Roizen, MD
Deborah Bryk-Serva, MD

In the late 1980s NADS was concerned about many of our children not having appropriate heart screening at birth.  At that time, Dr. Nancy Roizen, Director of the Pediatric Down Syndrome Clinic at the University of Chicago, shared our concern, and in 1989 Dr. Roizen and Dr. Deborah Bryk-Serva, Pediatric Cardiologist, developed a research project to look at this issue.  NADS provided some funding, and through our Parent Support Program we recruited more than 130 babies for the study. Participants were at least 3 months of age and had not been screened for heart disease with an echocardiogram. Each child in the study had a comprehensive physical exam as well as a cardiac evaluation, including an echocardiogram. Approximately 30% of these babies were found to have heart problems.

The results of this study clearly documented the need for all infants with Down syndrome to be evaluated by a Pediatric Cardiologist and an echocardiogram at birth or shortly thereafter – this is now clearly recommended in the Down Syndrome Health Care Guidelines.

Heart Study in Adults with Down Syndrome

When the Adult Down Syndrome Center opened in 1992, NADS developed an aerobics program for adults. Since very little research had been done on adults with Down syndrome, we provided funding to the Center to offer cardiac screenings for patients at the Center before they were allowed to participate in the aerobics program.  This involved an evaluation by a cardiologist, a stress test and other cardiac assessments.  No major cardiac problems were found in this study.

Energy Expenditure in Children with Down Syndrome

Amy Luke, Ph.D.
Nancy Roizen, MD
Marjorie Sutton, MS, RD
Dale Schoeller, Ph.D.

In 1989 Dr. Nancy Roizen asked NADS to recruit children for a study on nutrition and weight in children with Down syndrome, which was conducted at the University of Chicago Wyler Children’s Hospital and LaRabida Children’s Hospital in Chicago. This study was undertaken to examine the relationship between energy expenditure and obesity in children with Down syndrome in comparison with control subjects, and to provide data to help define daily energy requirements of prepubescent children with Down syndrome. NADS recruited children with Down syndrome, and a control group was recruited from another source.

A complete report on this study was published in the Journal of Pediatrics, Volume 125, Issue 5, Part 1, November 1994.

Resources

Resource Library

Until recently, NADS maintained a Resource Library at the Adult Down Syndrome Center, which contained hundreds of books, audiotapes, DVDs and videos related to Down syndrome. The materials were available for loan to NADS members, patients of the Adult Down Syndrome Center and their families or caregivers, but due to space constraints and administrative challenges, NADS made the decision to discontinue the lending service, and the materials from the library are currently being distributed to local communities.

NADS Materials

Because there was so much inaccurate information about Down syndrome throughout the years, NADS has produced materials to correct these inaccuracies and myths. Our materials highlight the value, gifts and contributions that children and adults with Down syndrome bring to their families and to the broader community.

In 1990 NADS published a booklet for new parents, “A Baby First.”Parents and parent organizations throughout the country and also in other countries have used this beautiful 12-page booklet, which they give to their new parents. It was the first 4-color booklet published in the U.S on Down syndrome.  NADS also developed a “Special Delivery Folder” which is given to new parents as part of our new parent packet.

We also developed a series of beautiful posters with a theme of “Don’t Be Surprised.” There were seven posters in this series, and they were displayed all over the country and in Canada as well.  Staying with the “Don’t Be Surprised” theme, we also developed a total of 21bookmarks that were used to highlight the gifts and talents of children and adults with Down syndrome.

NADS developed several Audio/visual programs:

• You Don’t Outgrow Down Syndrome
• New Expectations for Down Syndrome 
• A Friend Like You
• Don’t Be Surprised
• Talents That Inspire

NADS Website

The NADS website was developed by NADS board member, Bill McCarthy, in 1996.  It provides general information about Down syndrome as well as listings of NADS programs and numerous Down syndrome resources.  The website was redesigned in 2003 by Kurt Metzler who has continued to be our webmaster since then. A very active feature for several years was the Discussion Forum, which provided a supportive environment where people in the Down syndrome community found information and shared their children’s accomplishments and asked for support during challenging times. Parents often helped each other by addressing questions or by posting useful resources they had discovered. Initially this forum met a significant need and generated a lot of energy, and while it is still used by some people, with the development of the Blogosphere and Facebook, more and more parents are communicating more directly with a variety of people. Other social networking sites allow parents to share information much more easily than was possible in the past. NADS is also on Facebook, which is another way that we are helping to keep people connected and up-to-date.

The website continues to be a great vehicle for NADS to communicate with our members and the broader community on a variety of issues and events.

E-Mail Alerts

In 2000 NADS started a list serve e-mail alert system and members were notified of legislative alerts and events of interest to the Down syndrome community.

NADS Presidents

John Lee 1961 – 1964
Dave Zanoni 1964 – 1966
Bob Mead 1966 – 1968
Ron Krupp 1968 – 1974
Lucille Msall 1974 – 1975
Tony Micelli 1975 – 1979
Art Dobbelaere 1979 – 1980
Ken Miller 1980 – 1984
Mary Nicoson 1984 – 1985
Elaine Greenbaum 1985 – 1986
Dan Moore 1986 – 1988
Peggy Bourke 1988 – 1991
JoAnn Hart 1991 – 1996
Tom Herr 1996 – 1997
Dan Moore 1997 – 2000
Bill McCarthy 2000 – 2003
Diane Gomboz 2003 – 2008
Jackie Rotondi 2008 – 2012
Steve Connors 2012 – 2017
Katie Wood 2018 – 2020

NADS Executive Directors

Byrne Witt 1973-1974
Karen Cornell 1978-1979
Sheila Hebein 1979-2009
Diane Urhausen 2009-2017

NADS Historical Timeline

In Memory of 2 Beloved Staff Members

Peggy Nemec

Peggy joined the NADS board of directors in 1979 – her son, Tim, was born with Down syndrome in 1978. Peggy was in our first training program for Parent Support Volunteers and she served on the board of directors until 1984 when she joined the NADS staff as our Office Coordinator. Peggy was also our Family Support Coordinator and in that role she was a source of strength and support to hundreds of NADS families. Peggy was loved by many and she worked faithfully for NADS until her death in September 2004.

Linda Picchi

Linda’s daughter, Angie, was born in 1980 and she took our Public Speaker Training Course in 1986.  She joined the NADS staff in 1989 as Program Coordinator. In that capacity she expanded our Hospital Education Program and she provided hundreds and hundreds of hospital in-service programs throughout the Chicago metropolitan area. Linda also worked with college, high school and elementary school students – providing them with valuable information and insights.  Linda also provided wonderfully sensitive support to many parents throughout the years.

Linda worked with much dedication for NADS until the summer of 2010 and we were devastated when she died in December 2010.

• Sheila Hebein served 5 years as a board member and 30 years as Executive Director.
• Peggy Nemec served 5 years as a board member and 20 years as Office Coordinator.
• Linda Picchi was a public speaker for 3 years and then worked 20 years as Program Coordinator.
• The total time of commitment to NADS and to the Down syndrome community of these 3 women was 83 years. We may never see that again.

After More Than 50 Years, a Dispute Over Down Syndrome Discovery | Science

It would have been a personal triumph for Marthe Gautier, an 88-year-old pediatric cardiologist and scientist living in Paris. On 31 January, during a meeting in Bordeaux, Gautier was to receive a medal for her role in the discovery of the cause of Down syndrome in the late 1950s. In a speech, she planned to tell an audience of younger French geneticists her story about the discovery—and how she felt the credit she deserved went to a male colleague, Jérôme Lejeune.

But Gautier’s talk was canceled just hours in advance, and she received the medal a day later in a small, private ceremony. The French Federation of Human Genetics (FFGH), which organized the meeting, decided to scrap the event after two bailiffs showed up with a court order granting them permission to tape Gautier’s speech. They were sent by the Jérôme Lejeune Foundation, which wanted to have a record of the talk. The foundation, which supports research and care for patients with genetic intellectual disabilities and campaigns against abortion, said it had reason to believe Gautier would “tarnish” the memory of Lejeune, who died in 1994.

A brilliant cytogeneticist with a storied career, Lejeune has become widely known as the scientist who discovered that Down syndrome is caused by an extra copy of chromosome 21. He received many awards, including one from former U.S. President John F. Kennedy. But in recent years, Gautier has claimed that she did most of the experimental work for the discovery. In the French newspaper Le Monde, Alain Bernheim, the president of the French Society of Human Genetics, last week compared her case to that of Rosalind Franklin, whose contribution to the discovery of the double helix structure of DNA in the early 1950s was long overlooked.

In an e-mail to Science, Gautier referred to an interview published on the Web for her version of events more than half a century ago. In it, she explained that she worked on Down syndrome in the pediatric unit led by Raymond Turpin at the Armand-Trousseau Hospital in Paris, which she joined in 1956 after a year at Harvard Medical School in Boston.

Human cytogenetics was just coming of age. In 1956, a Swedish team showed that humans have 46 chromosomes in every cell, not 48, as was widely believed. In the United States, Gautier had learned to grow heart cell cultures, so she proposed to set up an advanced cell culture lab and study Down syndrome. She says she received her first patient sample in May 1958; examining slides, she soon noticed an extra chromosome, but she was unable to identify it or take pictures with her low-power microscope. In June 1958, she “naively” accepted an offer from Lejeune, who Gautier says was studying Down syndrome using other techniques, to take her slides and get them photographed.

Gautier claims she was “shocked” when, after more than 6 months of silence, she learned that the discovery was about to be published in the journal of the French Academy of Sciences, with Lejeune as the first author and Turpin the last; Gautier was in the middle, her last name misspelled as Gauthier. Gautier doesn’t dispute that Lejeune identified the 47th chromosome as an extra copy of chromosome 21, but she maintains that she was the first to notice the abnormal count.

While acknowledging that Gautier played a role, the Jérôme Lejeune Foundation claims that Lejeune himself made the discovery. “In July 1958, during a study of chromosomes of a so-called ‘mongoloid’ child, [Lejeune] discovered the existence of an extra chromosome on the 21st pair,” according to the foundation’s website. The foundation has denied that Lejeune appropriated Gautier’s discovery; in a press statement, it says a letter Turpin sent in October 1958 suggests Gautier still hadn’t seen the 47 chromosomes. 

Things came to a head at the meeting in Bordeaux. After calling off Gautier’s talk and the award ceremony, FFGH issued a statement saying it would have been “unacceptable” to hold the ceremony under the threat of a legal suit. But the federation also said it “bitterly regretted” the cancellation and condemned the use of legal power to put pressure on a scientific meeting.

Simone Gilgenkrantz, a professor emeritus of human genetics at the University of Lorraine in France and a friend of Gautier’s, says the presentation, which she has seen, was “completely innocuous.” Gautier writes in an e-mail to Science that she accepted the decision and that she felt unprepared to deal with what she calls “an aggression.” “To talk under the pressure of justice is not tolerable for me or anyone else,” she writes.

Ideology is fueling some of the rancor. Lejeune, a staunch Catholic, was horrified by the advent of prenatal diagnostics, which made it possible to screen fetuses for Down syndrome and other abnormalities, and abort those afflicted. He set out to find a therapy for genetic intellectual disabilities like Down syndrome, but also campaigned tirelessly against abortion—which made him a lightning rod among the left wing in France. (Lejeune was friends with Pope John Paul II and the Vatican is now considering a request to beatify him.) In its statement, the foundation lashed out at Gautier’s supporters for trying to discredit an ideological opponent. It said Gautier, at her age, can’t be blamed for her “confusion,” but called stories backing her version of events in Le Monde and Libération—both left-wing papers—“ideological terrorism.”

Gilgenkrantz, who convinced Gautier to tell her story in 2009, says it should be told regardless of the politics involved. To her, it’s one more tale of a female scientist wronged at a time when French science was still very sexist. “This is a story that must be known,” she says, “in the name of women.”

But Bernard Dutrillaux, who worked in Lejeune’s lab from the mid-1960s until the early 1980s, believes that some score-settling may be going on. “Lejeune made a lot of enemies” among his peers, he says. Still, he condemns the foundation’s legal maneuvers. Both sides, Dutrillaux says, should know better than to fight such “petty rear-guard battles.”

Earliest Case of Down Syndrome Discovered in Medieval Cemetery

The earliest probable case of Down syndrome in the archaeological record comes from a 5- to 7-year-old child who lived in medieval France some 1,500 years ago, new research shows.

The child, who is also the youngest example of the condition in the archaeological record, likely was not stigmatized in life, given that the body was treated in a similar way to others buried at the site, researchers say.

Archaeologists originally discovered the skeleton of the child in 1989, when they excavated it along with 93 other skeletons from a fifth- to sixth-century necropolis located just south of the Abbey of Saint-Jean-des-Vignes in northeastern France. Researchers had suspected the child may have had Down syndrome, but they hadn’t performed a rigorous analysis to confirm the diagnosis. [See Photos of the Remains of an Ancient Plague Epidemic]

So Maïté Rivollat, an archaeologist at the University of Bordeaux, and her colleagues studied the skull of the child, and took a computed tomography (CT) scan of it to understand its internal features.

“Two earlier publications just mentioned the possibility of Down syndrome without [conducting] a detailed study,” Rivollat told Live Science in an email. “The [CT] scan was a new possibility to approach the intracranial aspect of that skull.”

An ancient disorder

Down syndrome is a genetic disorder in which a person has an extra copy of chromosome 21. People born with Down syndrome typically have intellectual disabilities, physical growth delays and certain facial features, including a flat nasal bridge and almond-shaped eyes that slant upward.

British physician John Langdon Down first described Down syndrome as a unique disorder in 1866. Despite this relatively recent identification of the condition, paintings and sculptures have depicted Down syndrome for centuries.

For instance, the earliest depiction of Down syndrome may come from Olmec figurines from Mesoamerica that date as far back as 1500 B.C., according to a 2011 study on the history of Down syndrome published in the Journal of Contemporary Anthropology.

In the archaeological record, the oldest probable case of Down syndrome came from a 9-year-old child who lived in England sometime between A.D. 700 and 900. (A skeleton from a Native American cemetery in California, dating to 5200 B.C., may, in fact, be the earliest archaeological case of Down syndrome, but the evidence is less conclusive, the 2011 study notes.)

A normal life?

The skull of a 5- to 7-year-old child (shown here) who lived in medieval France shows signs of Down syndrome; for instance, the skull was short and broad, and flattened at the base. (Image credit: Rivollat et al./Elsevier.)

To see if the Saint-Jean-des-Vignes child really had Down syndrome, Rivollat and her team studied the dimensions and structure of the child’s skull and compared it with the skulls of 78 other children of similar ages. Their analysis showed the French child had numerous features indicative of Down syndrome, which the other skulls lacked.

For example, the skull was short and broad, and flattened at the base. In addition, it contained thin cranial bones and certain extra bone pieces. The child also had some sinus and dental abnormalities, which aren’t diagnostic of Down syndrome on their own, but are indicative of the disorder when considered along with the other characteristics, the researchers point out in their study, published online last month in the International Journal of Paleopathology.

The archaeologists also studied the way in which the child was buried to obtain clues about how he or she was treated in life, something scientists weren’t able to do with other ancient cases of Down syndrome. Just like other skeletons in the cemetery, the child was placed face-up in its tomb, with its head pointing west and feet pointing east, and its hands situated under its pelvis. That is, the child’s burial treatment was no different from that of other people in the cemetery, Rivollat said.

“We interpret this as meaning that the child was maybe not stigmatized during life, the first time a Down syndrome individual has been so viewed in the context of the ancient community,” the researchers write in their study.

 Follow Joseph Castro on Twitter. Follow us @livescience, Facebook & Google+. Original article published on Live Science.

History of Down’s Syndrome | Intellectual Disability and Health

Down’s Syndrome is a genetic condition which is the commonest identifiable cause of intellectual disability, accounting for almost one third of cases. It occurs equally in all races with an overall incidence rate of approximately 1 in 800 births.

Conor Ward (Republic of Ireland)

John Langdon Down (1828 – 1896) and Down’s Syndrome

The designation Down’s syndrome originated in the decision by the Editor of the Lancet in 1961 to opt for this description for the condition previously described as Mongolian Idiocy. A group of 20 of the world’s leading geneticists had written suggesting that the condition be known henceforth as Langdon Down Anomaly, Down’s Syndrome, or Anomaly or Congenital Acromicria. The designation was confirmed by the World Health Organisation in 1965.

Langdon Down was a brilliant medical student in the London Hospital and after two years as the hospital obstetric resident he was appointed Medical Superintendent of the Royal Earlswood Asylum for Idiots in Redhill, Surrey in 1856.

While in post he also identified other disorders including Prader Willi Syndrome. In 1866 he opened his own private residential centre in Normansfield. This catered for a wide range of intellectual disabilities. His main publication on intellectual disability was in the Lettsomian Lectures which he delivered for the Medical Society of London in 1887.

John Langdon Down was the youngest son of a village grocer in Torpoint in Cornwall. He worked in his father’s shop until he was 18 years old. Having first qualified in pharmacy he entered the London Hospital Medical School at the age of 25 where he was a triple gold medallist. Immediately after taking his degree he was appointed Medical Superintendent of the Royal Earlswood Asylum of Idiots. In parallel he was appointed Assistant Physician at the Royal London Hospital.

At Earlswood he was influenced by Dr John Conolly, the reformer of psychiatric hospitals and Official Visitor to Earlswood. Conolly wished to pursue the correlation between the external contours of the skull and specific intellectual and psychological characteristics.

Langdon Down began by examining the palates and tongues of the residents and in his 1862 report he said “in 16 cases the tongue presented a sodden appearance and exhibited transverse furrows on its dorsal surface; in all these patients one is able to trace a marked physiological and psychological agreement. So much do they resemble one another that they might readily be taken for members of the same family. Twelve appear to have very large tongues which in most cases interfered with speech.” This was the first indication that he had identified a specific group of patients with unique physical characteristics.

He pursued the project for the identification of skull shapes in several ways. In 1862 and in 1865 he photographed a large number of patients. Over 200 of his black and white negatives have survived. In his definitive publication in what he described the ethnic classification of idiots in 1866, he pointed to the physical features of patients whom he described as Caucasian, Ethiopian, Malayan, American Indian and Mongolian. It was the last of these categories which encompassed the first description of what is now known as Down’s syndrome.

He wrote: “It is to this division I wish, in this paper to draw special attention. The very large number of congenital idiots are typical mongols. So marked is this that when placed side by side it is difficult to believe that the specimens compared are not children of the same parents. The number of idiots who have arranged themselves around the Mongolian type is so great and they present such a close resemblance to one another in mental power that I shall describe an idiot member of this racial division selected from the large number who have fallen under my observation.

The face is flat and broad and destitute of prominence. The cheeks are roundish and extended laterally. The eyes are obliquely placed and the internal canthi more than normally distanced from one another. The palpebral fissure is very narrow. The tongue is long, thick and much roughened. The nose is small. The skin has a slight dirty yellowish texture and is deficient in elasticity, giving the impression of being too large for the body.” He went on to observe that the co-ordination was poor, the circulation is feeble and there is a tendency to delay in development during the winter, suggesting that in some of his patients there was concurrent thyroid deficiency.

He noted that this group of patients responded very well to training, doing better than would be expected. Their life expectancy however was below average and there was a tendency for the development of tuberculosis.

In 1876 he specifically identified the fold of skin at the inner corner of the eyes which he described as epicanthic folds and he also noted that the ear was usually placed further back in relation to the head and face than in normal children.

It was not until 1959 that Lejeune and colleagues discovered the extra chromosome 21 which was the underlying abnormality in Down’s syndrome. Very little new was added to the clinical description of the condition apart from the description of single transverse crease in the palm noted by John Langdon Down’s son Reginald in 1908 and the characteristic grey spots on the iris of the eye noted by Brushfield in 1924.

Article published in 2002. Reviewed in 2019; content continues to be relevant.

90,000 causes, symptoms, diagnosis, classification

Among chromosomal pathologies, a special place is occupied by Down’s syndrome – one of the most common genetic disorders in newborns. Its main cause is a random genetic mutation, as a result of which a third extra chromosome appears in 21 pairs of chromosomes. The frequency of the phenomenon is approximately 1 case per 600-800 babies. A random mutation leaves its mark on the appearance of the child already at the stage of intrauterine development, which greatly facilitates the diagnosis of Down syndrome by ultrasound.

Main causes of occurrence

Modern medicine names two causes of the disease at once:

1. Mother’s age. This is the main risk factor for Down syndrome. The older a pregnant woman is, the higher the risk of having a baby with an accidental genetic disorder. At the age of 30-40 years, the risk of genetic failure is 1/1000, after 42 years – 1/60. The main factor is the aging of eggs, which are laid even during the period of the girl’s prenatal development and gradually lose the ability to form a genetically healthy fetus.The age of the father also matters – before or after 45 years, when the likelihood of having a baby with Down syndrome increases dramatically.
2. Hereditary factor. The cause of the development of the syndrome can be closely related marriages, the presence of the disease in one of the relatives of the child. The age of the grandmother, in which she gave birth to her daughter, also matters. The higher it is, the greater the risk of having a grandchild with the syndrome.

It is important to remember: Down syndrome is recognized by experts in all countries of the world as a random genetic mutation.It does not depend on the environmental situation, the level of radiation, the presence of hazardous production and other extraneous factors.

Characteristic external and other symptoms

People who are carriers of an extra chromosome have a characteristic appearance:

• flat nose bridge;
• Mongoloid eye incision, due to which the pathology has the second name “Mongolism”;
• flat face and back of the head.

Also among the features are some developmental delay and reduced immunity, which does not allow the body to resist external infections.All of the above is not a limiting factor. Today, special teaching methods have been developed for them from the first months of life. If parents are active, children with Down syndrome symptoms can get secondary education and a profession, become full-fledged members of society and start their own family.

Do you have symptoms of Down syndrome?

Only a doctor can accurately diagnose the disease.
Do not delay the consultation – call by phone

+7 (495) 775-73-60

Complications

Depending on the complexity of the form of Down syndrome, the patient may have:

• congenital heart defects;
• frequent infectious diseases;
• leukemia;
• early onset of Alzheimer’s disease;
• cessation of breathing during sleep;

90,011 obesity, etc.d.

Diagnostics

Detection of a genetic abnormality is possible in the early stages of pregnancy:

• Ultrasound screening at 11-13 weeks assesses the size of the collar space and the size of the nasal bone of the fetus;
• at the same time, a blood test is carried out with the specification of the amount of chorionic hormone and plasma protein;
• at later stages of pregnancy, fetal tissues are taken for their genetic study: amniocentesis, chorionic fiber biopsy or cordocentesis.

Because we are talking about a genetic failure, the treatment of Down’s syndrome consists only in monitoring the patient’s health and adjusting the complications of the underlying disease.

Forecast for patients

Today, the average life expectancy with genetic pathology is approaching 55-60 years, whereas a few decades ago they lived only up to 25 years due to unfavorable living conditions.

The probability of having a child with a genetic abnormality in a person with Down syndrome is about 35-50%.In addition, during the formation of a fetus in a pregnant woman with a disease, the unborn baby may experience other genetic failures.

At the same time, the risk of cancer in such patients is reduced to zero. In addition, parents note the hospitality and invariably good mood of such children, their affection, responsiveness, the ability to easily make contact and not be offended by others.

Prevention

It is not possible to completely eliminate the risk of having a child with a genetic pathology of the 21st pair of chromosomes.However, it is in the power of future parents to do everything possible to strengthen their own reproductive health and exclude a chromosomal malfunction:

• to monitor your health, promptly seek medical help for the treatment of identified diseases;
• Lead a healthy and active lifestyle, play sports, so that a sufficient amount of oxygen enters the eggs;
• eat right, enriching the diet with healthy foods high in vitamins and minerals;
• support the immune system;
• keep track of weight, i.e.because its deviation in any direction can cause hormonal disruption and disruption of the process of maturation of germ cells;
• in a timely manner to undergo an ultrasound examination during pregnancy in order to identify a genetic failure in the fetus in the first weeks of intrauterine development.

Follow-up of patients with Down syndrome at Medicina JSC (Academician Roitberg’s clinic) in Moscow

In JSC “Medicine” (the clinic of Academician Roitberg) there is a Center for working with special children.Pediatricians and specialized specialists of the clinic in the Central Laboratory of Moscow are ready to work with patients with Down syndrome, regardless of their age and general condition of the body.

Patients are guaranteed an attentive and responsible attitude, an individual approach, confidentiality of personal data and the achievement of visible results of the prescribed treatment or prevention of Down syndrome. All the necessary diagnostic measures can be taken at the clinic in order to get fast and reliable results.

To make an appointment and additional consultations, you can call +7 (495) 775-73-60.

Frequently asked questions about the disease

How long do people with Down syndrome live?

The average life expectancy of patients with Down’s syndrome is now about 50 years, having increased more than 2 times compared to the statistics of the middle of the last century. The life span is influenced by the presence of complications in the body caused by a genetic malfunction, living conditions, heredity, etc.e. Under the condition of qualified medical supervision, the life expectancy of patients can be extended and made more comfortable.

How to define a disease during pregnancy?

The risk of developing a fetus with a genetic abnormality can be clarified with the help of ultrasound in early pregnancy, as well as with a laboratory blood test for the content of proteins and hormones in the body of the expectant mother.If there is a serious suspicion of a genetic failure at a later date, fetal biomaterial obtained by biopsy or amniotic fluid sampling is examined.

Can Down Syndrome be Treated?

Modern medicine is not able to correct the consequences of the formation of the third chromosome. Therefore, she faces several tasks: monitoring pregnancy, timely identification of complications of a patient with the syndrome and their correction.It is possible to partially eliminate the consequences of the disease with the help of special educational programs and physical activity of a child with Down syndrome, whose body is prone to overweight.

90,000 Scientists have discovered a gene that will help cure Down’s disease

https://ria.ru/20190523/1554852622.html

Scientists have discovered a gene that will help cure Down’s disease

Scientists have discovered a gene that will help cure Down’s disease – RIA Novosti , 23.05.2019

Scientists have discovered a gene that will help cure Down’s disease

Experiments on chimeric mice helped American molecular biologists isolate a gene whose increased activity leads to the development of dementia in carriers of the syndrome … RIA Novosti, 23.05.2019

2019-05- 23T18: 26

2019-05-23T18: 26

2019-05-23T18: 26

health

health – society

medicine

genetics

biology

discoveries – ria science

usa science

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SKVA, May 23 – RIA Novosti. Experiments on chimeric mice helped American molecular biologists to isolate a gene, the increased activity of which leads to the development of dementia in carriers of Down syndrome. Their findings and potential methods for “shutting down” this piece of DNA were presented in the journal Cell Stem Cell. Down syndrome remains the most common cause of dementia on Earth.In the past, scientists believed that it occurs on average in one out of eight hundred inhabitants of the planet, but the latest observations of American doctors show that the frequency of its development has at least doubled. All mental disorders in its carriers occur due to the fact that their DNA contains not two, but three copies of the 21st chromosome. As a result, the work of genes responsible for the formation and functioning of the brain is disrupted, which is why their carriers lag behind their peers in mental development from the very first days of life.In recent years, biologists have discovered several genes and “problem” areas of the brain, the work of which is most impaired in carriers of Down syndrome. These discoveries leave hope for the creation of gene therapy or drugs that would help correct these disorders and would allow children with an extra chromosome to develop normally. Scientists, as noted by Jiang and his colleagues, have long noticed that the appearance of an extra chromosome 21 in DNA carriers of this disease in a special way changes how inhibitory and excitatory nerve endings were formed in the brain of the embryo.What exactly was happening, neurophysiologists could not say, since experiments on embryos of rodents and on brain slices of elderly carriers of Down syndrome ended with the fact that their authors came to the opposite conclusions. However, these experiments showed that the mental development problems were most likely associated with the OLIG1 and OLIG2 genes. They are responsible for the formation of the so-called GABA neurons, the main “brakes” of our nervous system, with the first section of DNA suppressing their formation, and the second – accelerating this process.How exactly their work was disrupted, scientists did not know. Jiang and his team hypothesized, based on the results of experiments with miniature copies of the brain, that cognitive problems in carriers of Down syndrome developed due to excessively high activity of OLIG2 and an excess of “inhibitory” receptors. They tested this theory in an unusual way – they took tissue samples from people, with an extra 21 chromosome, turned them into stem cells that can turn into GABA neurons, and introduced them into the brains of newborn mice. In the days and months that followed, biologists monitored the development of these “chimeric” rodents, tracking changes in their behavior and in the structure of the brain.As it turned out, the cortex and other parts of the nervous system of these mice contained significantly more GABA neurons than the analogous body parts of their congeners from the control group, into whose brains scientists injected stem cells with a normal set of chromosomes. Having obtained similar results, Jiang and his colleagues tested what would happen if OLIG2 activity was reduced to normal levels by short RNA molecules that prevented brain cells from reading this region of the genome. This “gene therapy” ended in complete success – the number of “extra” cells in the brain of mice was noticeably reduced, thanks to which the new generation of chimeras did not suffer from serious memory problems characteristic of the first group of rodents.In particular, they were just as good at remembering objects unfamiliar to them and just as quickly found a way out of the maze, as their relatives with a normal set of chromosomes. Scientists hope that further experiments with mice and a more detailed study of OLIG2 will help them find a complete cure for Down syndrome, which will not only affect fetuses and newborns, but also adult carriers of the disease.

https://sn.ria.ru/20150701/11071

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health, health – society, medicine, genetics, biology, discoveries – RIA Science, USA

SKVA, May 23 – RIA Novosti . Experiments on chimeric mice helped American molecular biologists to isolate a gene, the increased activity of which leads to the development of dementia in carriers of Down syndrome.Their findings and potential methods for “shutting down” this piece of DNA were presented in the journal Cell Stem Cell.

“We have found that the OLIG2 gene is one of the most interesting targets for eliminating the abnormalities in embryo development associated with Down syndrome. Its suppression restores the balance between excitatory and inhibitory neurons, which improves cognitive function after birth.” said Peng Jiang of Rutgers University in New Brunswick (USA)

Down syndrome is still the most common cause of dementia on Earth.In the past, scientists believed that it occurs on average in one in eight hundred inhabitants of the planet, but the latest observations of American doctors show that the frequency of its development has at least doubled.

All mental disorders in its carriers occur because their DNA contains not two, but three copies of the 21st chromosome. As a result, the work of genes responsible for the formation and functioning of the brain is disrupted, which is why their carriers lag behind their peers in mental development from the very first days of life.

July 1, 2015, 13:31 maturation of germ cells in the body of aged women.

In recent years, biologists have discovered several genes and “problem” areas of the brain, the work of which is most impaired in carriers of Down syndrome. These discoveries leave hope for the creation of gene therapy or drugs that would help correct these disorders and would allow children with an extra chromosome to develop normally.

Scientists, as noted by Jiang and his colleagues, have long noticed that the appearance of an extra chromosome 21 in the DNA of carriers of this disease in a special way changes how inhibitory and excitatory nerve endings were formed in the fetal brain.

What exactly happened, neurophysiologists could not say, since experiments on embryos of rodents and on brain slices of elderly carriers of Down syndrome ended with the fact that their authors came to the opposite conclusions.

However, these experiments showed that mental development problems were most likely associated with the OLIG1 and OLIG2 genes.They are responsible for the formation of the so-called GABA neurons, the main “brakes” of our nervous system, with the first section of DNA suppressing their formation, and the second – accelerating this process.

How exactly their work is disrupted, scientists did not know. Jiang and his team suggested, based on the results of experiments with miniature brain copies, that cognitive problems in carriers of Down syndrome developed due to excessively high activity of OLIG2 and an excess of “inhibitory” receptors.

They tested this theory in an unusual way – they took tissue samples from people with an extra chromosome 21, turned them into stem cells that can turn into GABA neurons, and injected them into the brains of newborn mice.In the days and months that followed, biologists monitored the development of these “chimeric” rodents, tracking changes in their behavior and in the structure of the brain.

As it turned out, the cortex and other parts of the nervous system of these mice contained significantly more GABA neurons than the analogous parts of the body of their congeners from the control group, into whose brains scientists injected stem cells with a normal set of chromosomes.

With similar results, Jiang and his colleagues tested what would happen if OLIG2 activity was reduced to normal levels by short RNA molecules that prevented brain cells from reading this region of the genome.

3 August 2015, 19:30 Science Scientists have found a problematic place in the brain of people with Down syndrome Neurophysiologists have uncovered the mechanisms of development of dementia, characteristic of people suffering from Down syndrome, and found possible ways to repair the center of their memory and return them to the normal ability to remember new information and learn.

Such “gene therapy” ended in complete success – the number of “extra” cells in the brain of mice was noticeably reduced, thanks to which the new generation of chimeras did not suffer from serious memory problems characteristic of the first group of rodents.

In particular, they just as well remembered objects unfamiliar to them and just as quickly found a way out of the labyrinth, like their relatives with a normal set of chromosomes.

Scientists hope that further experiments with mice and a more detailed study of the work of OLIG2 will help them find a complete cure for Down syndrome, which will not only act on embryos and newborns, but also on adult carriers of this disease.

Up the stairs

In 2006, at the international scientific symposium dedicated to Down syndrome, a special date was established – World Day of People with Down Syndrome.Since it is caused by trisomy on chromosome 21, the event was timed to coincide with the twenty-first day of the third month. The editors of N + 1 decided to figure out how far medicine has advanced in understanding the mechanism of the development of the symptoms of this syndrome, and whether it will be possible to achieve its complete cure in the future.

What is this disease?

Scientists are not in vain showing an increased interest in studying
Down syndrome is a disease caused by the appearance of excess
copies of chromosome 21 (usually random) are quite common.IN
In 2015, there were more than five million people with this diagnosis in the world. Probability
the birth of a child with such a chromosomal abnormality increases from 0.1 percent in 20-year-olds
women up to three percent among women aged 45 years. But most of the sick
children are born to mothers younger than 35 years old – because the peak of childbearing occurs at this age. In addition, the likelihood of extra copies of chromosomes
or their fragments increases with age and in men, so that the father can also
contribute to the birth of a sick child.

An extra chromosome poses many health risks. According to the Department
US health care, half of children with trisomy 21 suffer
congenital heart disease that requires surgical
interventions immediately after birth. In addition, people with the syndrome experience
vision problems, including the frequent development of cataracts, in 70 percent of cases they develop hearing impairment. Weakened immunity and susceptibility to infections
are combined with an order of magnitude increased risk of developing leukemia.

Preparation of human chromosomes with trisomy on chromosome 21

National Down Syndrome Society

Muscle weakness, back problems, disorders
sleep, digestive tract diseases, decreased thyroid function –
here is an incomplete list of possible (but optional) circumstances with which
carriers of an extra copy of chromosome 21 may face.One of the important problems
children with Down syndrome is mental retardation. With age, such
people have a significantly increased risk of developing Alzheimer’s disease. However,
progress in medicine has led to the fact that in developed countries the duration
the life of people with this syndrome is currently 50-60 years old, and
many of them are socially adapted and are full-fledged members of society. Since most of the accompanying medical symptoms can now be addressed with supportive therapy, social stigma remains a major concern for these people.Society exerts tremendous pressure on the mothers of such children, and opportunities for rehabilitation and socialization are not available to everyone.

History of the syndrome

The phenotypic traits characteristic of Down’s syndrome were
found on the faces of statuettes made 2.5 thousand years ago, and this means that trisomy is not a sign of our time. Trisomy
on chromosome 21 was named Down syndrome after the physician John Down, who
first compiled its clinical description in 1866 (Down himself, however, called
syndrome “Mongolism” – due to the characteristic slanting of the eyes).However
less, the genetic cause of the syndrome was discovered by French scientists only in 1959.

This discovery led doctors to formulate the hypothesis of “increasing the dose of genes”, which was partially confirmed by biochemical analyzes. It implies that the abnormalities arise from an excess of certain proteins that are produced from normal genes on the extra chromosome. Enzymes were classified as “excess”
redox metabolism, carbohydrate metabolism and some
cofactors.Based on this, some researchers have proposed to treat the syndrome
vitamin and mineral complexes. In the 1960s, Dr. Henry
Turkel claimed to have developed a complex of 48 substances. He is over
for many years he gave it to his patients, and he allegedly restored their intellectual
ability. Subsequently, doctors announced the benefits of vitamin-based therapy,
minerals and thyroid hormone, antioxidants and folic acid. However
less, no clinical trials were carried out at the time, and
there is no evidence of the effectiveness of these complexes.

Where does everything come from
are these symptoms?

Human chromosome 21 (HSA21) – the smallest autosome (non-sex chromosome), however
less, it contains about 400 genes, 250 of which encode proteins. Study
gene expression in cell lines with an extra copy of HSA21 showed that only about a third
the genes contained on it are expressed at an excessive level. Moreover, the increase
the expression of most of them reflects an increase in the copy number of the chromosome (then
there is an increase in one and a half times), and the expression of seven percent is increased by more
much.It was among this portion of genes that scientists were looking for the reasons for the development
painful symptoms.

wikimedia commons

Some genes that fall into this group may be responsible
for violation of DNA synthesis and repair. Gene
COL6A1 Required for synthesis
a certain type of collagen, may be associated with the development of myopathy and
disorders of the heart.Overexpression of the gene CRYA1 , encoding one of the crystallin proteins that form
lens, can provoke cataracts. Increasing the number
tyrosine kinase encoded by gene DYRK1A ,
and expressed in the brain is likely to inhibit the development of the nervous system. It turned out
that a large number of “suspects” are concentrated in one large locus,
which was named “the main site responsible for the development of Down syndrome” (DSCR – Down Syndrome critical region). However, for
most of these genes are involved in the development of symptoms of the disease
not experimentally proven.

With the development of genetic engineering, in
studying a large number of genetically determined diseases to help
mouse models come to scientists. Despite the fact that the murine analogs of genes of 21 human chromosomes are scattered on three different chromosomes, the researchers succeeded
duplicate large sections containing dozens of desired genes and obtain lines
animals showing “human” symptoms of Down syndrome. Mice of the Ts65Dn line today represent one of the most popular
research models for this syndrome.In particular, on this line it was possible to prove
that early development of Alzheimer’s disease in Down syndrome is to blame
overexpression of the APP gene encoding the precursor
amyloid protein.

Is it possible to treat it?

Today’s conventional therapy for Down syndrome
does not exist, but a number of approaches are under development. In addition to
symptomatic treatment of comorbid conditions such as heart disease and
disruption of the thyroid gland, the efforts of scientists are aimed at finding
drugs that help restore the intellectual functions of people with the syndrome
Down.When looking for a promising therapy, the first experimental subjects are
the aforementioned mice.

Moderate positive effects on learning and memory have been found when implanting progenitor stem cells in model mice
neurons. However, it is still premature to talk about the application of this method in humans.
This also includes gene therapy, for example, suppression of the expression of the said gene
DYRK1A using RNA interference.
This approach also gave significant results in mice.However, suppress the activity
product DYRK1A can be simpler
way – its natural inhibitor is epigallocatechin gallate (EGCG), which in large
quantities are found, for example, in tea.

A lot of research has been devoted to the restoration of functions
the brain by influencing the number of neurotransmitters, for example,
gamma-aminobutyric acid and serotonin. Good in animal testing
developed lithium salts that were previously used to treat bipolar disorder.One of the pronounced biochemical disorders accompanying practically
all tissues of Down syndrome patients are oxidative stress. Experiments
in mice have shown that the intake of antioxidants, in particular, vitamin E,
normalizes the number of neurons and improves working and spatial memory
animals.

The simplest therapy, which portends a minimum of side effects
effects are physical activity and a stimulating environment.
In mice, these conditions have been shown to increase neurogenesis and the formation of
synapses, which are indicators of brain development.

To date, a number of molecules have also been tested in humans (mainly
children and adolescents) in clinical
tests. Scientists have evaluated the effectiveness of acetylcholinesterase inhibitors,
which are used in the treatment of Alzheimer’s and Parkinson’s diseases (rivastigmine and
donepezil), the popular nootropic piracetam, folic acid, vitamin E,
growth hormone, memantine glutamate receptor antagonist and tea component EGCG. Unfortunately, practically
all these drugs did not in any way improve the intellectual indicators of patients, assessed by special tests.The exception was
epigallocatechin only – a small preliminary study showed
improving memory in children as a result of taking the substance for some
time. This molecule is probably not hopeless and the optimization
treatment protocols can bear fruit over time.

Despite the failed tests of most candidates,
scientists suggest that treatment may be effective if started still
in the womb, at a time when the brain is still developing.This hypothesis again
proved itself in mice, but before testing on pregnant women
the researchers haven’t gotten there yet.

Is it possible to simply
turn off the extra chromosome?

The most radical treatments for Down syndrome and others
chromosomal abnormalities are suggested by genetic engineering.Modern biochemical instruments
allow you to both “turn off” extra genes, and insert new ones in almost any
place of the genome.

For example, researchers from the University of Washington were able to
get rid of an extra chromosome in cells with the help of a popular geneticist
method of positive-negative selection. To do this, in the chromosome using
viral vector, first inserted a cassette containing a gene for resistance to
antibiotic and gene for the enzyme of nucleotide synthesis. At the first stage, the resistance gene
to the antibiotic helped to select the necessary cells with a cassette integrated into the genome
(positive selection).At the second stage, the cells were added to the growth medium
substance – a precursor of nucleotides. An enzyme built into cells transformed
it into a toxic substance, causing the cells containing the cassette,
died – or threw out an extra chromosome (negative selection).

Another group of American scientists proposed a more elegant
solution to inactivate an extra chromosome. Researchers drew an analogy with
natural mechanism of switching off the X chromosome. Women have two cages
X chromosomes, but only one of them works, and the other is inactivated with
the formation of a compact “ball” of DNA and proteins, called Barr’s body.This happens with the participation of the XIST gene,
from which a long non-coding RNA molecule is read, providing
suppression of the activity of all genes on the X chromosome. Researchers inserted XIST gene with tool
genome editing – recognizing a specific DNA sequence
nucleases – to the locus of the already known gene DYRK1A.
XIST gene activity
led to the fact that the extra 21 chromosome “curled up into a ball” and formed
inactive Barr’s body.

Inactivation of an extra chromosome in induced stem cells (trisomy 21 iPS cell) made from fibroblast cells.Inactivation is achieved by integration into the chromosome of the XIST gene using ZNF

nuclease

Jun Jiang et al / Nature 2013

Chinese scientists have suggested using to destroy unnecessary
chromosome technology CRISPR-Cas9. To do this, they introduced into the cells
a cocktail of guide RNAs – “primers” for Cas9 nuclease, indicating where to cut it, and
Cas9.As a result of recognition
many sites the protein “crumbled” the chromosome into pieces. Thus, researchers
managed to get rid of the Y chromosome with high efficiency, and with an efficiency of the order
15 percent – from extra autosomes, including the seventh, 14 and 21 chromosomes.

Alas, genetic engineers have not even gotten to mice yet – all mentioned
experiments were performed on stem cells. Also, the methods of fixing
the genome of “sick” cells leaves questions: how to “direct” the remedy
editing to one copy of a chromosome, while there are three of them in a cell? What,
if the integration turns out to be too effective, and instead of one, two are turned off
chromosomes? Even if we do want to apply DNA editing techniques to
to a person, how to ensure the delivery of instruments to all cells?

While human genetic engineering enthusiasts suggest
correct mutations even at the embryonic stage, however, chromosomal abnormalities, such as
usually not hereditary diseases.If parents want to conceive
a child “in a test tube”, which is required in any case for editing the genome,
it will be easier to select a healthy embryo even at the fertilization stage.

Thus, genetic engineering does not promise any prospects either.
complete cure for people with Down syndrome. However, one completely realizable thing
she is able to offer. As mentioned at the beginning of the article, patients with the syndrome
Downs are highly at risk of developing leukemia. In the same time,
researchers who are engaged in cancer immunotherapy have already learned how to replace in
patients “sick” immune cells for genetically modified (about this
can be read here).Thus, if taken from a person with Down syndrome
immune cells, turn off the extra chromosome in them and return the cells back,
one less potential health problem for a person.

Treat, prevent
or reconcile?

While it is not possible to cure Down syndrome, medicine
provides expectant mothers with another opportunity – to check if the fetus is
the carrier of the extra chromosome, while still in the womb. For this, prenatal
diagnostics, which is done at different stages of pregnancy.”Traditional”
methods include ultrasound diagnostics, concentration determination
set of protein markers in maternal serum, study of amniotic
waters or tissues of the placenta. Their accuracy is around 80-90 percent. The most
the best diagnosis today is the sequencing of circulating DNA
fetus in the mother’s blood. The accuracy of this method is more than 99 percent, moreover
the method is non-invasive, which means it is the safest for both the mother and
and for the child.

Prenatal diagnosis of chromosomal diseases, for all
its reliability and simplicity, bears an ethical component, because behind the production
diagnosis in more than 90 percent of cases is followed by termination of pregnancy.At that
while most doctors are convinced that this is the right choice, some
experts call this state of affairs “modern eugenics.”

While raising a child with Down syndrome, the parents
spend much more resources than raising an “ordinary” child, their efforts
often pay off. Considering that most of the diseases associated with the syndrome
can be eliminated by supportive therapy, the main problem in socialization
such people are left with intellectual development.However, most
cases, children with Down syndrome are learnable, with the use of special developmental
methods, children turn into full-fledged members of society, who are not a burden
for him. Some people with this syndrome have graduated from university, are
successful actors or musicians. Among them,
e.g. Karen Gaffney – head of a nonprofit aid organization
children with disabilities, or Finnish punk rock musicians
of the Pertti Kurikan Nimipäivät (PKN) group.

A small survey of 100 families by a Canadian
By the Down Syndrome Society of British Columbia, showed that only 40
percent of parents would like to cure their child of the syndrome, if
the medicine existed.27 percent of parents said they wouldn’t
treat the child – they love him for who he is. This once again reminds
that “all kinds of people are needed, all kinds of people are important”, and with the support of others
everyone can find their place in the sun.

Daria Spasskaya

90,000 Scientists have found out which parts of the “extra” chromosome 21 are associated with Down syndrome – Science

TASS, January 28.British scientists have identified specific areas in human chromosome 21 responsible for the development of cognitive impairment in carriers of Down syndrome, experimenting with an analogue of the disease in mice. This was reported on Tuesday by the press service of the University College London with reference to an article in the journal Cell Reports.

“We used to think that all intellectual problems associated with Down syndrome were caused by one particular piece of DNA or a gene chain on chromosome 21.For the first time, we were able to show that different genes caused their own unique set of disorders in the intellectual development of mice, “said Matthew Walker, professor at University College London (UK), quoted by the university’s press office.

Down syndrome is the most common cause of dementia and other brain problems. All mental disorders in its carriers arise for the reason that their DNA contains not two, but three copies of the 21st chromosome.As a result, the work of genes responsible for the formation and functioning of the brain is disrupted, which is why their carriers lag behind their peers in mental development from the very first days of life.

In recent years, neurophysiologists and geneticists have discovered several genes and “problem” areas of the brain, the work of which is most impaired in carriers of Down syndrome. These discoveries led researchers to think about creating gene therapy or discovering drugs that could correct or suppress these disorders and would allow children to develop normally.

Walker and his colleagues became interested in which genes associated with the development of Down syndrome were responsible for the development of those symptoms that directly affected the social and mental development of the child. To answer this question, scientists raised three different types of mice predisposed to develop Down syndrome and compared their cognitive abilities.

Multifaceted syndrome

In this, as the biologist explains, they were helped by the fact that analogs of human genes located on chromosome 21 are distributed at once along three chromosomes in the DNA of mice.This allowed scientists to test the role and function of each of these three sets of genes by creating rodents with an extra copy of fragments on the first, tenth, and seventeenth chromosomes.

When all the mice with extra chromosomes grew, scientists assessed their level of intellectual development using various types of mazes and other classic tests of intelligence. In parallel, they monitored how the level of activity of their brain changed using an electroencephalograph, and also compared the indicators recorded by it with similar measurements for mice with a normal set of chromosomes.

These experiments showed that mice that had a duplicated part of the first chromosome became extremely indecisive and lost the ability to act quickly, despite the absence of other visible cognitive impairments. In contrast, the appearance of an extra copy of a fragment of the tenth chromosome made rodents extremely forgetful and unable to remember even the simplest information. Doubling the seventeenth chromosome, in turn, did not affect the behavior and intelligence of the rodents.

As the researchers note, both types of disturbances in the intellectual development of mice were accompanied by unique disruptions in the functioning of the hippocampus, the memory center in the mammalian brain, as well as in other areas of the brain.

All this, according to Walker and his colleagues, suggests that Down’s syndrome is much more complex than scientists previously thought. Most likely, it will hardly be possible to suppress it by removing or disabling one specific piece of DNA or a chain of genes from the extra 21st chromosome.

On the other hand, the study of those genes whose analogs are found in the mouse chromosome 1 and 10, the authors of the article hope, will help to understand how various types of intellectual development disorders arise in carriers of Down syndrome, as well as to discover the first effective methods of suppressing them.

90,000 2. History of the discovery of Down syndrome

English physician John Langdon Down was the first in 1862 to describe and characterize the syndrome, later named after him, as a form of mental disorder.The concept became widely known after he published a report on this topic in 1866. Because of the epicanthus, Down used the term Mongoloids (the syndrome was called “ Mongolism “). The concept of Down syndrome was deeply rooted in racism until the 1970s.

John Langdon Down

Mate Rivolla of the University of Bordeaux discovered in the necropolis near the church in Chalon-sur-Saône the remains of a child with anomalies characteristic of Down syndrome, who lived about 1500 years ago, which is the oldest known case of Down syndrome.She noted that the nature of the burial did not differ in any way from the rest, which means that people with the syndrome, most likely, were not subjected to social stigmatization. John Starbuck of Indiana University, studying the Toltec statuette, suggested that it depicts a person with Down syndrome.

In the twentieth century, Down’s syndrome became a fairly common diagnosis. People with Down’s syndrome have been observed, but only a small part of the symptoms could be stopped. Most people with Down syndrome have died as babies or children.Following the emergence of the eugenic movement, 33 of the 48 US states and several other countries began forced sterilization programs for people with Down syndrome and comparable degrees of disability. It was also part of the T-4 assassination program in Nazi Germany. Judicial problems, scientific advances, and public outcry led to the cancellation of such programs within a decade after the end of World War II.

Until the middle of the 20th century, the causes of Down syndrome remained unknown, but the relationship between the likelihood of having a child with Down syndrome and the age of the mother was known, and it was also known that all races were susceptible to the syndrome.There was a theory that the syndrome was caused by a combination of genetic and hereditary factors. Other theories held that it was caused by trauma during childbirth.

With the discovery in the 1950s of technologies that allow the study of the karyotype, it became possible to determine the abnormalities of chromosomes, their number and shape. In 1959, Jérôme Lejeune discovered that Down syndrome occurs due to trisomy of chromosome 21.

Jerome Lejeune

In 1961, eighteen geneticists wrote to the editor of The Lancet that Mongolian idiocy “misleads connotations” and that it is “awkward term” and should be changed.The Lancet maintains the name Down Syndrome. The World Health Organization (WHO) officially removed the name “Mongolism” in 1965 following an appeal from Mongolian delegates. However, even 40 years later, the name “Mongolism” appears in leading medical textbooks, such as Pervasive and Systematic Pathologies, 4th edition (2004), edited by Professor Sir James Underwood. Down syndrome advocates and parents have welcomed the elimination of the Mongoloid label attached to their children.The first group in the United States, the Mongoloid Development Council, changed its name to the National Down Syndrome Association in 1972.

In 1975, the US National Institutes of Health held a conference on nomenclature standardization. They recommended the elimination of the possessive form:

It is required to stop using the possessive form in relation to the eponym, since the discoverer did not suffer from this disorder.

Despite this, the name Down syndrome is still used in all countries.

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How to get control over genes?

Down syndrome is in many ways a mystery disease, and the “sunny people” still continue to amaze doctors and scientists.In the United States, October has been considered the Down Syndrome Awareness Month for several years. MedAboutMe joins this good initiative and finds out what new scientists have learned in the treatment of Down syndrome over the past few years.

John Down and the syndrome of his wards

John Down believed that it is necessary to deal with children with intellectual disabilities – and this will positively affect their development.In the course of observing his patients, the doctor developed a classification of such patients and in 1862 he first described people whose disease later became known as Down’s syndrome. The doctor himself considered the cause of the pathology to be tuberculosis of the father or mother of the child, and only much later, in 1959, scientists found out that the matter was in the extra 21st chromosome. That is, there are not two of them, as in ordinary people, but three – this condition is called trisomy. Accordingly, the total chromosomes in patients with Down syndrome will not be 46, but 47.

John Down himself attributed such patients to the “Mongolian group” because of the characteristic fold of the epicanthus – an extension of the upper eyelid, the presence of which is characteristic of the Mongoloid race.He called the syndrome “Mongolian”. 2 years after the discovery of the genetic cause of the pathology, a group of geneticists wrote to the editor of one of the most famous and respected scientific journals in the world “The Lancet” with a proposal to replace the then term “Mongolian idiocy” or “Mongolism” with another name, not so racist. Since then, the medical community and the rest of the world have known trisomy on chromosome 21 as Down syndrome. Officially, the name “Mongolism” was finally abolished in 1965 after Mongolian scientists turned to the WHO on this matter.

Unpredictable “sun people”

Patients with Down syndrome are still a mystery to doctors. Some of them will forever remain “sunny children”, unable to exist without the help of parents or guardians. Others, however, once again prove that the human body has tremendous potential to cope even with such severe pathologies obtained at the time of conception.

Of the world-famous Russians, it is worth remembering Andrei Vostrikov from Voronezh, who has repeatedly won gold and silver at world sports competitions among people with disabilities.This is another athlete – Maria Langovaya, swimming champion of the 2011 World Special Olympics. This is Maria Nefedova, who not only teaches classes for children with the same syndrome as hers, but also plays in the theater and on the flute.

Scientists continue to study Down syndrome. An extra chromosome makes such patients somewhat weaker, but in some ways more stable than ordinary people. And there are already the first results of attempts to treat such patients.

Down syndrome and cancer

One striking example: people with diabetes very rarely get cancer.Scientists have not linked this fact with the average life expectancy of patients for a long time – nowadays “sunny people” live a long time, much longer than even 100 or even 50 years ago. And the reason for the resistance of people with Down syndrome to cancer has been found.

It turns out that the extra chromosome can be beneficial. The DSCR1 gene is located on it. The protein it encodes blocks the work of another important protein, vascular endothelial growth factor (VEGF). And VEGF is responsible for the formation of blood vessels – an extremely important stage in the development of malignant tumors.The extra gene effectively suppresses the growth of tumors.

In search of a cure for Down syndrome

In 2013, scientists from the University of Massachusetts School of Medicine proposed the most logical solution for Down syndrome: disable the extra chromosome. And even a mechanism for this is already in our genome: there is an XIST gene on the sex X chromosome, which is designed to inactivate it – this allows the body to avoid duplicating the work of genes from two identical chromosomes.During the experiment, the gene was transplanted onto chromosome 21, after which it was successfully activated. This made it possible to block the work of the genes of the extra chromosome. So far, scientists have more questions than answers, so research continues. Perhaps the day is not far off when genetically modified cells will be transplanted into a patient with Down syndrome.

You can go the other way. Find out what changes the third 21st chromosome, and try to fix it. In 2013, researchers at the Sanford-Burnham Institute for Medical Research found that people with Down syndrome have an increased activity of a specific microRNA, miR-155.The gene that encodes it is located on chromosome 21. And too much of this miR-155 suppresses another gene, SNX27, which encodes a protein of the same name. A deficiency of this protein leads to characteristic symptoms: impaired contacts between neurons, impairment of memory and learning. Experiments in mice have shown that supplementation with SNX27 protein normalizes brain function. It remains to find a means to activate the production of protein – or find a replacement for it, which can be obtained in laboratory conditions.

Research is ongoing. In the meantime, scientists recommend that patients with diabetes drink green tea as a medicine. In 2016, scientists at the Center for Genomic Regulation in Barcelona announced that epigallocatechin gallate, found in large quantities in green tea, leads to a marked improvement in the cognitive performance of Down syndrome patients. At least in the course of the study, it was shown that after a few months, the group receiving epigallocatechin gallate at the same dosages as in the tea improved patterns, communicated more freely, and showed more adaptive behavior than the placebo control group.

90,000 Opening of a specialized resource center for people with Down syndrome “World without borders!”

On February 6, a specialized resource center for people with Down syndrome “World without Borders” was opened in the Zheleznodorozhny District of the city. It is located on the passage of the Hero of Russia Averyanov, 5.

The project is organized as a complex of measures for habilitation, socialization of people with Down syndrome. Their integration into society, as well as to support families in which people with Down syndrome live, both children and adults.For everyone, specialists will work here – defectologists, speech therapists, kinesiologists. The World Without Borders plans to hold yoga classes, organize leisure and entertainment events.

A sensory room is located in the right wing of the room.
The main goal of sensory – integrative therapy is to provide stimulation that will target specific areas of the brain, allowing them to mature, thereby helping to ensure that the child’s brain works as a whole, which in itself will improve the overall quality of life both the child and his family.And it is sensory integration that contributes to this, taking into account the characteristics of the child and giving him the opportunity to most comfortably overcome a number of difficulties, developing coordination and vestibular apparatus, cognitive skills, motivation, physical and psycho-motor state, creating the most favorable conditions for general development and socialization in the family and society.

Also at the stage of arrangement there is a large hall of the Center, where it is planned to hold yoga, dancing, sports events.
The project Yoga for people with Down syndrome and their families “Three generations” is planned to be implemented on the basis of the resource center for support and assistance to people with Down syndrome “World without borders” and will be aimed at stabilizing and maintaining the psycho-emotional background and physical health of people with the syndrome Down and their family members, as well as to create a favorable psychological atmosphere in the family.

“The center is a place where they will solve global problems. Our children have great potential.If from the very beginning we take care of a child, then an ordinary person will grow up, not very different from the rest, as a result we will get – a worthy member of society. In fact, there are a lot of plans. We want to implement not only developmental activities for children, not only in terms of study and health, but also the employment of children in the future, so that our families and children have the opportunity to exist comfortably – this is the main goal! “- said Semakina Khristina Valerievna – director of the ANO” I am not extra! “

Any family in which a person with Down syndrome lives can get to the World Without Borders Center.To do this, you just need to contact the ANO “I am not superfluous”:
Address: Proezd Hero of Russia Averyanov, 5
Phone: 89093541733, 89603765197
Website: http://sunkids.ulregion.ru
E-mail: yanelishniy @ gmail .com

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