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Development of down syndrome babies: Down Syndrome – Developmental and Behavioral Pediatrics – Golisano Children’s Hospital


Down Syndrome – Developmental and Behavioral Pediatrics – Golisano Children’s Hospital

What is Down syndrome in children?

Down syndrome is a genetic disorder. It is also called trisomy 21. It includes certain
birth defects, learning problems, and facial features. A child with Down syndrome
also may have heart defects and problems with vision and hearing. How severe or mild
these problems are varies from child to child.                        

Down syndrome is one of the most common genetic birth defects. It affects about 1
in 700 babies. Adults with Down syndrome may live about 60 years, but this can vary.

What causes Down syndrome in a child?

When a baby is conceived, a normal egg cell and normal sperm cell start with 46 chromosomes.
The egg and sperm cells then divide in half. The egg and sperm cells then have 23
chromosomes each. When a sperm with 23 chromosomes fertilizes an egg with 23 chromosomes,
the baby will then have a complete set of 46 chromosomes. Half are from the father
and half are from the mother.

But sometimes an error occurs when the 46 chromosomes are being divided in half. An
egg or sperm cell may keep both copies of chromosome number 21, instead of just 1
copy. If this egg or sperm is fertilized, then the baby will have 3 copies of chromosome
number 21. This is called trisomy 21.

Sometimes the extra number 21 chromosome or part of it is attached to another chromosome
in the egg or sperm. This may cause translocation Down syndrome. This is the only
form of Down syndrome that may be inherited from a parent.

A rare form is called mosaic trisomy 21. This is when an error in cell division happens
after the egg is fertilized. People with this syndrome have both normal cells and
some cells with an extra chromosome number 21.

Which children are at risk for Down syndrome?

A mother’s age at her child’s birth is a factor linked to the risk of having a baby
with Down syndrome. This risk increases with each year of age, especially after age
35. But younger women are more likely to have babies than older women. Therefore,
most babies with Down syndrome are born to women younger than 35.

What are the symptoms of Down syndrome in a child?

Symptoms can occur a bit differently in each child. They can include:

  • Eyes that slant up

  • Small ears that may fold over slightly at the top

  • Small mouth that makes the tongue seem large

  • Small nose with a flattened bridge

  • Short neck

  • Small hands with short fingers

  • Two instead of 3 palm creases, including one across the palm and one around the base
    of the thumb

  • Short height

  • Loose joints

Most children with Down syndrome will have some but not all of these features.

Down syndrome can also include:

How is Down syndrome diagnosed in a child?

Chromosome problems such as Down syndrome can often be diagnosed before birth. Screening
tests are often done first. These often combine a blood test with an ultrasound. A
screening test tells you and your healthcare provider if you have a greater or lesser
chance of having Down Syndrome. They don’t make a diagnosis. A diagnostic test is
more invasive and risky. But it generally can find the disorder.

The screening ultrasound looks at the amount of amniotic fluid present. Extra fluid
means there is a problem. The blood test looks at many substances in the blood, such
as MS-AFP, Triple Screen, and Quad-screen, to show a possible risk. These tests look
at various levels of certain substances such as alpha-fetoprotein, human chorionic
gonadotropin, estriol to determine risk. Fetal ultrasound during pregnancy can also
show the possibility of Down syndrome. But ultrasound is not 100% accurate. Problems
from Down syndrome may not be seen with ultrasound.

Diagnostic tests are done by looking at cells in the amniotic fluid or from the placenta.
These tests include:

  • Chorionic villus sampling. This test examines cells from the placenta.

  • Amniocentesis. This tests the fluid from the sac surrounding the baby (amniotic fluid).

  • Percutaneous umbilical blood sampling. This tests blood from the umbilical cord.

All 3 of these tests look for characteristic changes in the chromosomes that occur
in a Down syndrome diagnosis.

After birth, your baby may be diagnosed with a physical exam. The healthcare provider
may also take a blood sample. This is checked in a lab to find the extra chromosome.

How is Down syndrome treated in a child?

There is no cure for Down syndrome. But a child with Down syndrome may need treatment
for problems such as:               

  • Heart defects. About half of babies with Down syndrome have heart defects. Some defects are minor.
    These can be treated with medicines or they will fix themselves on their own. Others
    may need surgery. All babies with Down syndrome should have an echocardiogram (heart
    ultrasound) and be looked at by a pediatric cardiologist. This exam and test should
    be done shortly after birth. This is so that any heart defects can be found and treated

  • Intestinal problems. Some babies with Down syndrome are born with intestinal problems that need surgery.

  • Vision problems. Common problems include crossed eyes, nearsightedness or farsightedness, and cataracts.
    Most eyesight problems can be made better with eyeglasses, surgery, or other treatments.
    Your child should see an eye doctor (pediatric ophthalmologist) before they turn 1
    year old.

  • Hearing loss. This is caused by fluid in the middle ear, a nerve defect, or both. Your child should
    get regular hearing tests so any problems can be treated early. This will help with
    language development.

  • Other health problems. Children with Down syndrome may have thyroid problems and leukemia. They also tend
    to have many colds, as well as bronchitis and pneumonia. Your child should get regular
    medical care and stay up to date on vaccines.

  • Learning problems. These vary widely from child to child. They can be mild, moderate, or severe. But
    most learning problems are mild to moderate. Many children will receive early intervention
    and special education.

Some people claim that giving high-dose vitamins to children with Down syndrome will
improve their learning and development problems. No studies have proved that this

Talk with your child’s healthcare providers about the risks, benefits, and possible
side effects of all treatments.

What are possible complications of Down syndrome in a child?

Complications of Down syndrome vary depending on the body organ affected and the severity
of the problem. Problems include certain birth defects, learning problems, and facial
features. A child with Down syndrome also may have heart defects and problems with
vision and hearing. How severe the complications are varies from child to child. Treatment
will also vary depending on the body organ affected and the severity of the problem.
Your child’s healthcare provider will discuss treatment options with you.

What can I do to help prevent Down syndrome in my child?

Researchers don’t know how to prevent the chromosome errors that cause this disorder.
There is no reason to believe parents can do anything to cause or prevent Down syndrome
in their child.

For women who have had one child with Down syndrome, the chance of having another
baby with Down syndrome depends on several things. Age is one factor. Most babies
with Down syndrome are born to women younger than 35. This is because women under
35 have more babies than women over 35.

Your healthcare provider may refer you to a genetic counselor. This expert can explain
the results of chromosome tests in detail. They can talk about risks for future pregnancies
and what tests are available to diagnose chromosome problems before a baby is born.

Some medical organizations advise that all pregnant women of any age be offered screening
for Down syndrome. Talk with your healthcare provider about this prenatal screening

How can I help my child live with Down syndrome?

Children with Down syndrome can often do most things that any young child can do.
They can walk, talk, dress themselves, and be toilet trained. But they often do these
things at a later age than other children. The exact ages of these development milestones
is different for each child. Early intervention programs that begin when a child is
a baby can help the child reach their potential.

A child with Down syndrome can go to school. Special programs beginning in the preschool
years help children with Down syndrome develop skills as fully as possible. Many children
are helped with early intervention and special education. They can also enter a regular
classroom. Many children will learn to read and write. They can take part in childhood
activities, both at school and in their community.

Your child may need physical, occupational, and speech therapy to help with their
development. Talk with your child’s healthcare provider, other families, and national
Down syndrome support agencies to learn what to expect with Down syndrome. You can
also learn what may be helpful in raising a child with Down syndrome. 

Special work programs are designed for adults with Down syndrome. Many adults with
this disorder can hold regular jobs. More and more adults with Down syndrome live
semi-independently in community group homes. They take care of themselves, do household
chores, develop friendships, do leisure activities, and work in their communities.

Some people with Down syndrome marry. Most men with Down syndrome can’t father a child.
In any pregnancy, a woman with Down syndrome has a 1 in 2 chance of conceiving a child
with Down syndrome. Many of the pregnancies are miscarried.

When should I call my child’s healthcare provider?

Call the healthcare provider if your child has:

Key points about Down syndrome in children

  • Down syndrome (trisomy 21) is a genetic disorder. It includes certain birth defects,
    learning problems, and facial features. A child with Down syndrome also may have heart
    defects and problems with vision and hearing.

  • A mother’s age at her child’s birth is the only factor linked to the risk of having
    a baby with Down syndrome. This risk increases with each year of age, especially after
    age 35.

  • There is no reason to believe parents can do anything to cause or prevent Down syndrome
    in their child. Researchers don’t know how to prevent the chromosome errors that cause
    this disorder.

  • Down syndrome can often be diagnosed before birth. After birth, your baby may be diagnosed
    with a physical exam. The healthcare provider may also take a blood sample.

  • There is no cure for Down syndrome, but treatment is available to help your child.

  • Your child may need physical, occupational, and speech therapy to help with their
    development. Many children are helped with early intervention and special education.

Next steps

Tips to help you get the most from a visit to your child’s healthcare provider:

  • Know the reason for the visit and what you want to happen.

  • Before your visit, write down questions you want answered.

  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments,
    or tests. Also write down any new instructions your provider gives you for your child.

  • Know why a new medicine or treatment is prescribed and how it will help your child.
    Also know what the side effects are.

  • Ask if your child’s condition can be treated in other ways.

  • Know why a test or procedure is recommended and what the results could mean.

  • Know what to expect if your child does not take the medicine or have the test or procedure.

  • If your child has a follow-up appointment, write down the date, time, and purpose
    for that visit.

  • Know how you can contact your child’s provider after office hours. This is important
    if your child becomes ill and you have questions or need advice.

Online Medical Reviewers:

  • Chad Haldeman-Englert MD
  • Pat F Bass MD MPH
  • Raymond Kent Turley BSN MSN RN

Related Services

  • Behavior Treatment Services – Provides assessment and short-term treatment for children and teens with developmental delay or disability and challenging behaviors.
  • Community Consultation Program – Provides technical assistance, training, and continuing education to schools, community and state agencies that provide services to children with learning and behavioral challenges.
  • Crisis Intervention Program – Provides services to individuals with a developmental or intellectual disability living in Monroe County with significant behavioral difficulties.
  • Pediatric Feeding Disorders Program – Provides assessment and treatment for children who have difficulty eating related to food selectivity, food refusal, and disruptive mealtime behavior.

URMC Collaborations


Visit the Down Syndrome LibGuide for resources.


Caring for a Baby Who Has Down Syndrome

Down syndrome is a genetic condition. A person who has Down syndrome is born with an extra copy of the 21st chromosome. It’s detected at birth. It also can be detected during pregnancy with genetic testing. Down syndrome causes some physical and intellectual disabilities. Most of the time, it’s at a moderate level. If you have a baby with Down syndrome, you’ll need to care for, talk to, play with, and love him or her like any other infant.

Path to improved development

In many important ways, children who have Down syndrome are very much like other children. They have the same moods and emotions, they like to learn new things, play, and enjoy life. You can help your child develop by providing as many chances as possible for him or her to do these things. Read to your child and play with him or her, just as you would any other child. Help your child to have positive experiences with new people and places.

Every baby born with Down syndrome is different. As your new baby grows, you’ll need to pay special attention to his or her physical and intellectual development. Your baby also may have some health problems that require extra care. Not all babies born with Down syndrome have health problems. Not all babies will have the same health problems.

Physical health: Babies who are born with Down syndrome are more likely to have:

  • Feeding issues.Learning to breastfeed or suck a bottle may take your baby longer to learn. Breastfeeding is good for all babies, including babies who have Down syndrome. Your doctor, a nurse, a feeding therapist, or another mom who has a baby with Down syndrome can provide tips and special training.
  • Heart defects.Some heart problems will require surgery within the first year. Other problems will correct themselves over time. If your baby has a heart problem, your doctor will refer you to a cardiologist. He or she will monitor your baby’s heart health until the problem is corrected.
  • Hearing issues.Some babies will have partial hearing loss. Babies who have Down syndrome have smaller Eustachian tubes (part of your inner ear). This causes fluid buildup. That can be relieved with tubes. Your doctor will surgically insert the tubes to relieve the fluid. Some babies have permanent nerve damage. This can cause permanent hearing loss. Hearing aids often help your child hear. Without treatment, the hearing loss can affect your baby’s speech development.
  • Vision problems.This might include cataracts or other eye issues requiring glasses.

Less likely health issues include:

  • Intestinal blockage at birth requiring surgery.
  • Hip dislocation.
  • Thyroid disease.
  • This is when red blood cells can’t carry enough oxygen to the body.
  • Iron deficiency. This is anemia where the red blood cells don’t have enough iron.
  • Leukemia in infancy or early childhood.

Developmental milestones

Your baby will reach all the same infant and toddler milestones. However, it will take him or her a little longer. Early intervention academic support as well as physical and occupational therapy can help children who have Down syndrome develop. This covers the following topics:

  • Motor skills (crawling, walking, feeding, dressing, handwriting).
  • Language skills (talking and vocabulary development).
  • Social skills (turn-taking, sharing, eye contact, manners).
  • Academic skills (early reading, counting).

The earlier your baby starts receiving therapy, the better he or she will develop and succeed in life.

Many cities have support groups and community resources to help parents who have children with Down syndrome. These resources also are helpful for siblings and other family members. Your doctor can tell you where to find these resources in your community.

Things to consider

In most cases, for every 100 couples who have another baby, 1 will have another baby with Down syndrome. If you’re planning on having more children, talk with your doctor. He or she can help you decide whether to seek genetic counseling before you become pregnant again.

When you first learn that your baby has Down syndrome, you may feel disappointment, grief, anger, frustration, fear, and anxiety about the future. These feelings are all normal. Talking to other parents of children who have Down syndrome can be helpful. They know how you’re feeling. You also can talk to your family doctor or visit a support group. These resources let you share your feelings and get additional information.

Questions to ask your doctor

  • Do babies who have Down syndrome have low muscle tone?
  • Will my baby learn to read?
  • Will my baby grow up to be independent?
  • How can I tell if I am sad about my baby’s diagnosis or if I’m suffering from post-partum depression?


Centers for Disease Control and Prevention: Down Syndrome

National Institutes of Health, MedlinePlus: Down Syndrome

Copyright © American Academy of Family Physicians

This information provides a general overview and may not apply to everyone. Talk to your family doctor to find out if this information applies to you and to get more information on this subject.

Down Syndrome: Symptoms, Causes, Treatments


What is Down Syndrome?

People with Down syndrome are born with an extra chromosome, which changes the way their brain and body develop.

Down syndrome is a genetic disorder. Most babies are born with 23 pairs of chromosomes within each cell for a total of 46. A chromosome is a structure that contains genes, which are made up of your DNA. Genes determine how you form and develop growing in the womb and after birth. The majority of babies with Down syndrome are born with an extra copy of chromosome 21, with three copies of the chromosome instead of the usual two.

As a result people born with Down syndrome face some physical and mental challenges throughout life. They typically have distinctive body and facial features that set them apart. They are more likely to develop slowly, and are more at risk for some medical conditions.

Are there different types of Down syndrome?

Yes, there are three types of Down syndrome. They are:

  • Trisomy 21: The term “trisomy” means having an extra copy of a chromosome. The most common type of Down syndrome, trisomy 21, occurs when a developing baby has three copies of chromosome 21 in every cell instead of the typical two copies. This type makes up 95% of the cases.
  • Translocation: In this type of Down syndrome, there is an extra full or partial amount of chromosome 21 attached to another chromosome. Translocation accounts for 4% of the cases.
  • Mosaicism: In the rarest type (only 1%) of Down syndrome, some cells contain the usual 46 chromosomes, and some contain 47. The extra chromosome in these cases is chromosome 21.

How common is Down syndrome?

Down syndrome is the most common chromosome-related condition in the U.S. Roughly 6,000 babies are born with the condition in the U. S. every year (about 1 in every 700 babies). More than 400,000 people are living with the condition in the U.S. today.

What are the risk factors for having Down syndrome?

Researchers are unsure why Down syndrome occurs in certain people. Anyone of any race or societal level can be affected.

What is known is that the risk of giving birth to a child with Down syndrome increases as women grow older. Women aged 35 and older are more likely to have their pregnancy affected by the syndrome. But because younger women have higher fertility rates, most babies with Down syndrome are born to women under 35.

Symptoms and Causes

What causes Down syndrome?

Each human cell typically contains 23 pairs of chromosomes. Down syndrome occurs because of changes in the way cells in chromosome 21 divide. Every person with Down syndrome has an extra amount of this chromosome in some or all of their cells.

In the most common type of Down syndrome, trisomy 21, the condition occurs randomly and isn’t inherited. However, when translocation or mosaicism is the cause of Down syndrome, hereditary (passed down among family members) should be looked at as a cause.

What are the signs and symptoms of Down syndrome?

Down syndrome causes physical, cognitive (thinking) and behavioral symptoms.

Physical signs of Down syndrome can include:

  • Short, stocky physical size, with a short neck.
  • Poor muscle tone.
  • Flattened facial features, especially the bridge of the nose.
  • Small ears.
  • Almond-shaped eyes that slant upward.
  • Small hands and feet.
  • Single deep crease across the center of the palm of the hand.

Common learning and behavioral symptoms of Down syndrome include:

  • Delays in speech and language development.
  • Attention problems.
  • Sleep difficulties.
  • Stubbornness and tantrums.
  • Delays in cognition.
  • Delayed toilet training.

Not all people with Down syndrome have all these symptoms. Symptoms and their severity are different from person to person.

Diagnosis and Tests

Is there a way to know if our baby will have Down syndrome?

Your healthcare providers can diagnose Down syndrome before your baby is born or at birth.

  • In prenatal (before birth) tests called screenings, blood tests and ultrasound (imaging test) are used to look for “markers” that suggest Down syndrome may be present.
  • Other prenatal screenings used to diagnose Down syndrome include amniocentesis and chorionic villus sampling (CVS). In these tests, a doctor removes a sample of cells from the part of the womb called the placenta (CVS), or the fluid surrounding the baby (amniocentesis), to look for abnormal chromosomes. You can choose whether or not to have these prenatal screenings.
  • At birth, providers look for the physical signs of Down syndrome. To confirm the diagnosis, a blood test called a karyotype is done. In this test, the a small sample of blood is taken and studied under a microscope to see if an extra amount of chromosome 21 is present.

What if we find out that our unborn baby has Down syndrome?

If you find out the baby you’re carrying has Down syndrome, your providers will direct you to resources to help you after your child’s birth. Several options are available (see Resources section).

You may want to participate in counseling or join a support group. Counselors and support groups help you prepare for raising a child with Down syndrome.

In support groups you can talk with other parents about their experiences living with Down syndrome. It’s a great way to share practical advice on coping with the condition, its ups-and-downs, frustrations and joys. You’ll find that you’re not alone.

Management and Treatment

How is Down syndrome treated?

Treatment for Down syndrome varies. It typically starts in early childhood. The purpose is for you and your child with Down syndrome to learn to cope with the condition, as well as treat what physical and cognitive (thinking) challenges arise.

Your providers may help you develop a care team for your family member with Down syndrome. The care team may include:

  • Primary care providers to monitor growth, development, medical concerns and provide vaccinations.
  • Medical specialists depending on the needs of the person (for example, cardiologist, endocrinologist, geneticist, hearing and eye specialists).
  • Speech therapists to help them communicate.
  • Physical therapists to help strengthen their muscles and improve motor skills.
  • Occupational therapists to help refine their motor skills and make daily tasks easier.
  • Behavioral therapists to help manage emotional challenges that can come with Down syndrome.

What other medical conditions are associated with Down syndrome?

People with Down syndrome often have associated medical conditions that are either present at birth or develop over time. These can often be managed by medications or other care. Common conditions of Down syndrome can include:

  • Heart problems, frequently present at birth.
  • Thyroid abnormalities.
  • Hearing and vision problems.
  • Low fertility rate in males with the syndrome. Around 50% of women with Down syndrome are able to bear children, but the risk of the child having the condition is between 35%-50%.
  • Sleep apnea.
  • Gastrointestinal problems, like constipation, gastroesophageal reflux (when fluid from the stomach re-enters the esophagus) and celiac disease (intolerance for wheat protein).
  • Autism, with challenges with social skills, communication and repetitive behaviors.
  • Alzheimer’s disease, which causes memory and thinking problems in older age.

Is there a cure for Down syndrome or can it go away in time?

No. Down syndrome is a lifelong condition and right now there isn’t a cure. But many health problems associated with the condition are treatable.


Can Down syndrome be prevented?

Down syndrome can’t be prevented, but parents can take steps that may reduce the risk. The older the mother, the higher the risk of having a baby with Down syndrome. Women can reduce the risk of Down syndrome by giving birth before age 35.

Outlook / Prognosis

What is the outlook for people with Down syndrome?

Many traits and conditions in people with Down syndrome are manageable with treatment and therapies. Medical care, support and education help them throughout their lives. Like anyone else, people with Down syndrome go to school, work, have meaningful relationships and can lead healthy and active lives.

How long do people with Down syndrome live?

Many people with Down syndrome live to age 60 or older.

Are people who have Down syndrome at greater risk for developing Alzheimer’s disease?

People with Down syndrome are at greater risk for developing Alzheimer’s disease. According to the Down Syndrome Society, Alzheimer’s disease is diagnosed in about 30% with Down syndrome in their 50s and in about 50% of those in their 60s.

Studies show the extra full or partial chromosome contributes to this increased risk of Alzheimer’s. Genes on chromosome 21 produce amyloid precursor protein, which plays an important role in the brain changes seen in Alzheimer’s patients.


What resources available for people with Down syndrome and their families?

Many resources are available to people with Down syndrome and their families. Parents of children with Down syndrome may need support with the special needs of their infants and toddlers. Many families join Down syndrome support groups to share experiences and ways to help their children live a healthy, full life.

People with Down syndrome will likely need assistance throughout their lives. In addition to ongoing therapies, this could include help with education, employment and living independently. A variety of organizations offer resources to help educate and empower people living with Down syndrome and their families.

The National Down Syndrome Society and the National Association for Down Syndrome are two of the most common resources people use for more information and support. Other resources include:

  • Brighter Tomorrows
    Brighter Tomorrows is a resource for parents who have received a diagnosis of Down syndrome either prenatally or at birth. Get answers to common questions, learn more about the condition and experience stories of other parents touched by Down syndrome.
  • Down Syndrome Pregnancy
    Information and support to expectant parents preparing for the birth of a baby with Down syndrome.
  • International Mosaic Down Syndrome Association
    Offers support and resources to families of and people with mosaic Down syndrome.

Down Syndrome – Kid Sense Child Development

What is Down Syndrome?

Down Syndrome is a genetic disorder caused by the addition of an extra chromosome. People with Down Syndrome have 47 chromosomes in their cells instead of 46. The duplicate chromosome is chromosome 21, which is why Down Syndrome is also referred to as Trisomy 21. Down Syndrome occurs at conception and can affect both genders, people from all ethnic and social groups and to parents of all ages.


What are the common features of Down Syndrome?

People with Down Syndrome present with the following features:

Physical features:

  • Flattened nose
  • Small teeth
  • Stunted growth
  • Short neck
  • Shortened hands
  • Low set and rounded ears
  • Shortened extremities
  • Atypical fingerprints
  • Flexible ligaments
  • Smaller genitalia
  • Separation of the abdominal muscles

Developmental features:

  • Intellectual disability
  • Learning difficulties
  • Developmental delay
  • Speech and communication difficulties
  • Difficulty with coordination
  • Difficulty with fine and gross motor skills


Common difficulties often (but not always) experienced by the child with Down Syndrome:
  • Difficulty understanding the conventions of social interactions.
  • Poor articulation of sounds.
  • Difficulties with reading and writing.
  • Immature play skills/interests.
  • Resistance to change, very rigid in routine.
  • Can be impulsive or aggressive.
  • Difficulties understanding and using non-verbal communication.
  • Difficulties understanding instructions, questions or jokes.
  • Difficulties with fine and gross motor skills.
  • Difficulty accessing the school curriculum.


Management strategies that support the child with Down Syndrome (at preschool, school and/or home):
  • Set up an individualised plan with parents/carers that has small achievable goals to help develop the child’s skills.
  • Develop social stories to improve appropriate behaviour in social situations.
  • Positive encouragement
  • Provide opportunities to succeed by simplifying activities.
  • Teach new skills in a step by step manner and keep the environment as predictable as possible during teaching.
  • Introduce new skills or environments on an individual basis before introducing peers.
  • Use simple language and instructions.
  • Provide visual as well as verbal cues.
  • Provide extra time to complete tasks.
  • Recognise and reinforce the child’s strengths.
  • Appropriate set up for school desk.
  • Set realistic and achievable goals for all task performance and completion.
  • Make participation, not competition, the goal.
  • Liaison between health professionals and educational staff to provide information to be incorporated into an education plan and/or implementing ideas/suggestions/activities to help improve the child’s ability to access to the curriculum.


Occupational Therapy approaches and activities that can support the child with Down Syndrome and/or their carers include:
  • Expand abilities: Developing a broad range of skill areas.
  • Social stories: Providing ideas and education around social story development.
  • School transition: Advocating and professionally supporting the transition to school and liaising with teachers (as required).
  • Visual cues can be used to support routine and to introduce new activities, or a change in tasks.
  • Gross and fine motor skills: Determining the current age level of a child’s gross and fine motor abilities.
  • Devise goals: Setting functional and achievable goals in collaboration with the child, parents and teachers so that therapy has a common focus beneficial to everyone involved.
  • Educating parents, carers, teachers and others involved in the child’s care about Down Syndrome and the age appropriate skills a child should be demonstrating.
  • Management strategies: Providing management strategies/ideas to assist the child in the home, at school and in the community.
  • Direct skill teaching through a task based approach.
  • Task engagement: Providing alternative ways to encourage task engagement.
  • Underlying skills: Developing the underlying skills necessary to support whole body (gross motor) and hand dexterity (fine motor) skills, such as providing activities to support:
    • balance and coordination
    • strength and endurance
    • attention and alertness
    • body awareness
    • movement planning


Speech Therapy approaches and activities that can support the child with Down Sydnrome and/or their carers include:
  • Speech and language assessment to help the family to understand how the child is processing, understanding, learning and using language and communication.
  • Communication strategies: Providing the family with strategies and techniques to increase and enhance communication with the child.
  • Daily activities: Helping the child to understand the environment, routines and language.
  • Developing language: Helping the child to understand and use richer language and to use language more spontaneously.
  • Conversation skills: Developing conversation skills (e.g. back and forth exchange, turn taking).
  • Concept skills: Developing concept skills, especially abstract concepts, such as time (e.g. yesterday, before, after).
  • Visuals can be used to help with understanding and the child’s ability to express their needs, wants, thoughts and ideas.
  • Social skills: Development of social skills (i.e. knowing when, how to use language in social situations).
  • Enhancing verbal and non-verbal communication including natural gestures, speech, signs, pictures and written words.
  • Visual strategies: Using visual information to help understand, organise and plan the routine for the day.
  • Liaising with educational staff regarding the nature of the difficulties and ways to help the child to access the curriculum.


Why should I seek therapy for my child with Down Syndrome?

Diagnosis alone is NOT the solution. It simply opens the door to getting the help that is needed by arming all involved with the relevant information.

The ‘help’ still needs to be provided. The help that is provided (at least from a therapy perspective) will reflect:

  • First and foremost what medical intervention is needed.
  • What the parents/teachers/carers biggest concerns are for the child (i.e. what are the most significant functional challenges).
  • The specific areas that are problematic to the child (which will vary even within children with the same diagnosis).
  • The capacity of the child’s environments to meet the child’s needs.


If left untreated, the child with Down Syndrome may have difficulties with:
  • Following instructions within the home, kindergarten or school environment.
  • Vocabulary whereby a child cannot clearly get their message across due to limited word knowledge.
  • Understanding jokes and figurative language during interactions with others, and when watching TV shows and movies and reading books.
  • Learning to talk, speech intelligibility and clarity.
  • Managing a full school day due to poor strength and endurance.
  • Participating in sporting activities leading to an inactive lifestyle, increasing the risks of other health related issues such as obesity, diabetes, cardiovascular disease or similar conditions.
  • Self esteem and confidence when they realise their skills do not match their peers.
  • Bullying when others become more aware of the child’s difficulties.
  • Fine motor skills (e.g. writing, drawing and cutting) due to poor core stability, meaning they do not have a strong base to support the use of their arms and hands.
  • Completing self-care tasks (e.g. doing up shoelaces, buttons, zips, using cutlery).
  • Self regulation and behaviour as the child is unable to regulate themselves appropriately to settle and attend to a task for extended periods of time.
  • Accessing the curriculum because they are unable to attend to tasks long enough to complete assessment criteria.
  • Sleep habits, impacting upon skill development due to fatigue.
  • Social isolation because they are unable to cope in group situations or busy environments, impacting on their ability to form and maintain friendships.
  • Reading/understanding social situations and being perceived as ‘rude’ by others.
  • Social communication, such as eye contact, appropriate distance when talking to someone, turn-taking within a conversation.
  • Academic performance: Developing literacy skills such as reading and writing and coping in the academic environment.

More specific implications of not seeking treatment will be influenced by the common difficulties that are most influencing your individual child.

For more information see the relevant fact sheets under areas of concern or refer to the other relevant resources section below.


What does the diagnosis of Down Syndrome really mean for the child?

Diagnoses are used to label a specific set of symptoms that are being experienced by a child.

This label then helps to narrow down and specifically tailor what:

  • Other issues commonly occur simultaneously.
  • Medication might be appropriate.
  • Therapies might help the child (e.g. Medical, Occupational Therapy, Speech Therapy, Psychology).
  • Course of intervention (medical and/or allied health) might be and what outcome might be expected (prognosis).
  • Can be done to help the child.


A diagnosis helps the child and their carers (parents, teachers, health professionals, carers) to:

  • Access information about the relevant cluster of symptoms.
  • Communicate the salient features of the child’s challenges to all people involved in the child’s care.
  • Possibly interpret certain behaviours differently in light of the diagnosis.
  • Obtain information about what can be done to help the child.
  • Determine specifically where and how to help the child.
  • Access funding or services that might not otherwise be accessible.

FAQ and Facts about Down Syndrome

In the U.S., Down syndrome is the least funded major genetic condition by our National Institutes of Health despite being the most frequent chromosomal disorder. Because of this, and because of lack of funding from other government organizations, there is surprisingly little known definitively about the condition.

The Global Down Syndrome Foundation is committed to funding medical and basic research that will provide answers to the many questions that remain.

What is Down syndrome?
What is the cause of Down syndrome?
What is the population of people with Down syndrome?
What should you know about people with Down syndrome in the U. S.?
How do medical issues and care affect people with Down syndrome?
How will a baby with Down syndrome affect my family?
You are pregnant – What if your doctor offers a prenatal test to see if your baby has Down syndrome?
What is the future for a person with Down syndrome in the U.S.?
What are the hurdles?

Facts about Down syndrome: What is Down syndrome?

1. Down syndrome is named after the English doctor, John Langdon Down, who was the first to categorize the common features of people with the condition.

2. Dr. Jerome Lejeune discovered Down syndrome is a genetic disorder whereby a person has three copies of chromosome 21 instead of two.

  • There are also very rare forms of Down syndrome (less than 6%) called Translocation Down Syndrome or Mosaic Down Syndrome in which not all of the chromosome is triplicated or not all cells of the body carry the extra chromosome.

3. Down syndrome is the most frequently occurring chromosomal disorder and the leading cause of intellectual and developmental delay in the U. S. and in the world.

What is the cause of Down syndrome?

1. The cause of Down syndrome is unknown.

  • In a process called non-disjunction, the two copies of chromosome 21 fail to separate during formation of the egg, resulting in an egg with two copies of the chromosome. When this egg is fertilized, the resulting baby ends up with three copies of chromosome 21 in each of its cells. The cause of this non-disjunction remains unknown.

2. The chance of having a baby with Down syndrome increases with the mother’s age; however, about half of babies born with Down syndrome are born to mothers under 35 years old simply because more young women are having babies.

3. Down syndrome has nothing to do with race, nationality, socioeconomic status, religion, or anything the mother or father did during pregnancy.

4. There is NO correlation between incest and Down syndrome.

5. Between two and four percent of the time, a person is born with Mosaic translocation Down syndrome (mDs) whereby some but not all of the cells have an extra copy of the 21st chromosome and the other cells are not affected. Translocation happens when a piece of chromosome 21 becomes attached to another chromosome during cell division.

In the case of hereditary Translocation Down syndrome (a rare one to two percent of all people with Down syndrome), an extra chromosome 21 is inherited from one of the parents.

What is the population of people with Down syndrome?

1. The Centers for Disease Control (CDC) in 2011 estimated the frequency of Down syndrome in the US is 1 in 691 live births (up from 1 in 1087 in 1990)

2. The estimate that 90% of pregnant women in the U.S. who get a diagnosis of Down syndrome through amniocentesis choose to terminate IS INACCURATE.

  • This statistic is based on studies done that merged findings from the U.S., UK and Europe in the mid- to late 1990s. The numbers do not represent the attitudes of the US population then or today.
  • A more targeted 2012 review of just United States data and termination rates following a prenatal diagnosis for Down syndrome estimates termination rates from 1995 – 2011 were about 67%.

3. Surprisingly, The population of people in the US with Down syndrome is currently unknown. What we do know is:

  • 38% of Americans know someone with Down syndrome.
  • Because of the increase of live births of people with Down syndrome and the recent dramatic increase in their lifespan, over the next 20 years a significant increase in the population of people with Down syndrome in the U.S. is expected.
  • The population of people with Down syndrome in the U.S. has been estimated to be over 400,000. However, this number is derived from faulty assumptions – the total population from the 2000 US census, 281.4 million people, divided by the most current frequency of live births, 691 equaling 407,236. Unfortunately, this technique takes no account of the gradual increase in frequency or the increase in lifespan of people with Down syndrome. Thus, we don’t actually know how many people with Down syndrome currently live in the U.S.4. Some estimates put the worldwide population of people with Down syndrome at more than 6 million. More research is needed to ascertain whether this number is accurate.

What should you know about people with Down syndrome in the U.S.?

1. Today the average lifespan of a person with Down syndrome is approximately 60 years.

2. Most children with DS function in the mild to moderate range of cognitive impairment.

3. People with Down syndrome have physical and intellectual delays from birth but there is a wide variety of abilities within the population that are impossible to predict ahead of time.

4. By law, people with Down syndrome in the U.S. must be provided an appropriate and free public education.

5. A growing number of people with Down syndrome live independently.

6. A small but growing number of people with Down syndrome are choosing to get married and live together.


How do medical issues and care affect people with Down syndrome?

1. People with Down syndrome are significantly predisposed to certain medical conditions including congenital heart defects, sleep apnea, and Alzheimer’s disease. There is also evidence of an increased risk of celiac disease, autism, childhood leukemia and seizures.

  • Some research shows that people with Down syndrome who have certain heart defects or childhood leukemia are more likely than their typical counterparts to recover or recover quickly.
  • More research is needed to assess actual frequency and recovery of such medical conditions in the Down syndrome population.
  • Many of these medical conditions can be treated, and many people with Down syndrome will not have these medical conditions.

2. It is rare for a person with Down syndrome to have a solid tumor cancer or cardiovascular disease, including heart attack and stroke.

3. Although children and adults with Down syndrome may share some common features, they look more like their immediate family members than like each other.

  • Common but not universal features include short stature, round face, almond-shaped and up-slanting eyes. Such features are not medical conditions.

4. Appropriate medical care for children and adults with Down syndrome is very important. It can make a major difference for that person’s physical and intellectual development.

5. Early intervention for babies with Down syndrome is very important. The appropriate physical and speech therapies for the first five years can make a major difference for that child’s physical and intellectual development.

How will a baby with Down syndrome affect one’s family?

It is understandable that parents are concerned about how a child with Down syndrome will affect their family, including siblings. Every family is unique and may deal with the idea of, or the birth of, a baby with Down syndrome differently. Despite potential challenges, personal accounts and studies show that many families that have a child with Down syndrome are stable, successful and happy, and that siblings often have increased tolerance, compassion and awareness. In fact, a major study on marriages and Down syndrome shows the divorce rate among parents of children with Down syndrome is lower than the national average.

You are pregnant – What if your doctor offers a prenatal test to see if your baby has Down syndrome?

Global Down Syndrome Foundation together with the National Down Syndrome Congress have created a pamphlet for pregnant women that addresses questions related to prenatal testing for Down syndrome. Many testing companies and doctor’s offices will be providing this pamphlet at the point of diagnosis. Please click here to access or download the free pamphlet.

What is the future for a person with Down syndrome in the U.S.?

Of course, there is no way to know what the future holds for anyone. In most ways, however, babies, children and adults with Down syndrome are more like other people than not. Babies and children with Down syndrome need all the same love and care as their typical peers. Most adults with Down syndrome have the same aspirations and desires as a person who does not have Down syndrome.

What we do know is that the future of people with Down syndrome in the U.S. has dramatically improved over the last several decades and is on an upward trajectory:

1. People with Down syndrome are no longer institutionalized, lifespan has more than doubled, and mainstream Americans strongly believe in the human and civil rights for people with the condition.

2. Since the 1970s, public schools must, by law, provide a free and appropriate education to children with Down syndrome.

3. In the U.S. many people with Down syndrome complete high school, more are going on to a postsecondary education and a handful have even received graduate degrees. An increasing number of colleges and universities have programs that are specifically designed for differently-abled students. Go to ThinkCollege.net for a list of post-secondary programs and resources.

4. Some people with Down syndrome live independently or in an assisted independent arrangement, and a small but growing number have a romantic relationship and even get married.

5. Many people with Down syndrome can work, volunteer and vote.

6. Actors such as Chris Burke, who played Corky in Life Goes On, and Lauren Potter, who plays Becky Jackson on Glee, underscore the abilities of people with Down syndrome.

7. Mainstream Americans strongly support government programs that provide education and training for people with Down syndrome, support their families and research into the condition.

8. Mainstream Americans believe that people in the U.S. are all better off if they help people with Down syndrome.

What are the hurdles?

There are several large hurdles to overcome before people with Down syndrome can enjoy the equality and future they deserve.

1. Medical communities in the U.S. have not caught up with society’s positive view about people with Down syndrome or the idea of “new” Down syndrome.

2. Recent surveys in the U.S. of parents, doctors, and medical students indicate that outdated and inaccurate information about Down syndrome is being provided to pregnant women who are prenatally diagnosed or at birth of their child.

  • Despite 1980s legislation in the U.S. to the contrary, some doctors still believe lifesaving procedures should be denied a person with Down syndrome; in some countries individuals with Down syndrome are still institutionalized.

3. There is a major lack of funding for research benefitting people with Down syndrome, even compared to other conditions and diseases.

  • The funding for Down syndrome research at the National Institutes of Health (NIH) started a continual and precipitous decline in the year 2001 – as a result today Down syndrome is the least-funded major genetic condition in the U.S.;
  • However, NIH’s National Institute of Childhood Health and Human Development is now working hard to correct the disparity of funding for people with Down syndrome and is taking the lead on educating other institutes at NIH.

4. Without research funding, best practices in terms of how people with Down syndrome learn in a classroom cannot be studied nor tools created for teachers and parents.

5. Without research funding, there can be no centralized patient registry, database or biobank system that can help people with Down syndrome who want to participate in clinical trials or education studies.

6. Without research funding, the frequency and recovery rates of heart conditions and other diseases in people with Down syndrome cannot be properly estimated, nor can they be properly ameliorated or cured.

7. Without research funding, studying people with Down syndrome cannot help the tens of millions of Americans who suffer from diseases that people with  Down syndrome have in much higher numbers.

Global Down Syndrome Foundation is working hard with the National Institute for Childhood Health and Human Development, the Down Syndrome Congressional Down Syndrome Caucus, the National Down Syndrome Congress, Research Down Syndrome and others to ensure that the National Institutes of Health and other Federal Government agencies provide a fair share of research funds to help people with Down syndrome.

If you have any questions or comments, or would like to learn more about the Global Down Syndrome Foundation please contact us at [email protected]

Developmental Patterns of a Child with Down Syndrome

Every child is unique and develops at his or her own pace. This is especially true of children with Down syndrome whose rate of development is even more variable. Every time you take your child to the pediatrician, the doctor checks to see how your child is doing in the areas of intellectual, social-emotional, communication, and motor development.

Instead of focusing on a particular developmental milestone, attention is paid to the overall pattern of development reflecting the child’s strengths and areas of need. Intellectual delays are usually mild to moderate. (IQ or score achieved on an intelligence test identifies learning potential within the 70–40 range.) Children with Down syndrome tend to have higher abilities in the areas of social and adaptive skills.

Early Intervention to Improve Development

The first years of every child’s life are a critical time for optimal development. Early intervention can maximize each child’s potential. People who help with early intervention include:

  • Early childhood educators
  • Health care professionals
  • Occupational therapists
  • Physical therapists
  • Speech and language pathologists
  • Social workers

Other specialists are involved as needed. The goal of early intervention is to build on a child’s strengths to facilitate further development and to prevent patterns of development that could lead to orthopedic or emotional or behavioral difficulties.

Language and social skills. Children with Down syndrome develop language skills at a slower rate than many children. Some children with Down syndrome also have to deal with some structural problems, such as limited tongue movement, that may interfere with early sucking, swallowing, and eating. Therefore, children with Down syndrome benefit from early help with eating. This will prepare them for speech and language development.

These early skills are called oral-motor skills. Both occupational and speech and language pathologists can help your child with the movement and cognitive skills needed to acquire language. These early interventions with oral-motor skills and early language can set the stage for your child to interact cognitively, emotionally, and behaviorally with other children. You may be encouraged to try oral communication methods, combining speech with simple signs, to further your child’s communication efforts.

Movement development. Many infants with Down syndrome appear to be floppy or have looseness of the muscles and joints, making it harder for them to move freely, roll, sit, stand, and eventually, to walk. The floppiness is called hypotonicity. Some of the floppiness is related to excessive joint hypermobility and ligament laxity.

Children with Down syndrome may appear weak and unable to initiate typical infant movements, such as kicking and reaching. But early intervention by physical and occupational therapists will help a child learn to gain head control, roll, sit, stand, and walk. Each child with Down syndrome will move through the developmental stages at his or her own pace, but therapy will provide the encouragement for children to actively engage in gross motor activities.

Early therapeutic activity decreases the chance of developing orthopedic problems that could interfere with movement later in life. The therapists work with each child individually and in group activities to develop motor control through play and some focused exercises. Learning through gross motor play can also improve aspects of your child’s cognitive skills, such as the ability to focus, develop persistence, get a sense of cause and effect, and explore or develop curiosity.

Parents and extended family members are a very important part of each child’s early intervention activities and programs. Speech and language and physical and occupational therapists, as well as learning specialists, will work with both you and your child so the exercises or activities are fun and effective when incorporated into daily life.

Down Syndrome

What Is Down Syndrome?

Down syndrome is the term for a set of cognitive and physical symptoms that can result from having an extra copy or part of a copy of chromosome 21.

Down syndrome is the most frequent chromosomal cause of mild to moderate intellectual disability, and it occurs in all ethnic and economic groups.

The degree of intellectual disability in people with Down syndrome varies but is usually mild to moderate. Generally, children with Down syndrome reach key developmental milestones later than other children.

According to the Centers for Disease Control and Prevention, approximately 6,000 babies are born in the United States each year with Down syndrome, or approximately 1 out of every 691 live births.

In recent decades, thanks to appropriate support and treatment, life expectancy for people with Down syndrome has increased dramatically: from 25 years in 1983 to more than 60 years today.

What Causes Down Syndrome?

Down syndrome is caused by a random error in cell division that results in the presence of an extra copy of chromosome 21.

Usually, when one cell divides in two, all pairs of chromosomes are split so that one of the pair goes to one cell, and the other goes to the other cell. But in rare cases, both chromosomes from a pair go together into one cell.

Most of the time, the error occurs at random during the formation of an egg or sperm. No action by parents or environmental factor is known to cause Down syndrome.

After much research on these cell division errors, researchers know that:

  • In more than 90 percent of cases, the extra copy of chromosome 21 comes from the mother in the egg.
  • In about 4 percent of cases, the father provides the extra copy of chromosome 21 through the sperm.
  • In the remaining cases, the error occurs after fertilization, as the embryo grows.

Researchers also know some, but not all, of the risk factors for Down syndrome. For example, parents who have a child with Down syndrome or another chromosomal disorder, or who have a chromosomal disorder themselves, are more likely to have a child with Down syndrome.

In addition, the likelihood that an egg will contain an extra copy of chromosome 21 increases significantly as a woman ages. Therefore, older women are much more likely than younger women to give birth to an infant with Down syndrome.

Still, about 60 percent of babies with Down syndrome are born to women under age 35.

What Are Some Symptoms Related to Down Syndrome?

Symptoms of Down syndrome vary from person to person. Common physical symptoms include:

  • Decreased or poor muscle tone
  • Short neck, with excess skin at the back of the neck
  • Flattened facial profile and nose
  • Small head, ears and mouth
  • Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye
  • Single crease across the palm of the hand
  • Deep groove between the first and second toes

Physical development in children with Down syndrome is often slower than development of children without Down syndrome. For example, because of poor muscle tone, a child with Down syndrome may be slow to learn to turn over, sit, stand, and walk.

Despite these delays, children with Down syndrome can learn to participate in physical exercise and similar activities like other children. It may take children with Down syndrome longer than other children to reach developmental milestones, but they will eventually meet all or many of them.

Intellectual and Developmental Symptoms

Cognitive impairment—which means problems with thinking and learning—is common in people with Down syndrome and usually ranges from mild to moderate. Down syndrome is only rarely associated with severe cognitive impairment.

Common cognitive and behavioral problems may include:

  • Short attention span
  • Poor judgment
  • Impulsive behavior
  • Slow learning
  • Delayed language and speech development

In addition, people with Down syndrome are at increased risk for a range of other health conditions, including Autism Spectrum Disorders, problems with hormones and glands, hearing loss, vision problems, and heart abnormalities.

From Weak to Strong

When Andy was little, he didn’t have a lot of muscle control. So his mother decided to try exercising and playing with Andy in the water in an effort to strengthen him. Within four weeks, his muscles got strong, then stronger. Andy started pulling himself up and began to crawl.

At age 6, Andy started training for Special Olympics and has been a part of Special Olympics for more than 20 years. His skills and speed have earned him plenty of medals and recognition at Special Olympics events as well as in other swimming competitions. For example, Andy has competed in U.S. Masters Swimming (USMS) Competitions—alongside International Swimming Hall of Fame members, International Masters Swimming Hall of Fame members, and USMS national and world record holders.

As Andy puts it, “Down syndrome doesn’t matter to me at all.”

Fighting Low Expectations

When Nandi was born, doctors told her parents their child would probably never talk, walk or even be toilet-trained. She is legally blind and has Down syndrome.

Born in the United Arab Emirates, Nandi joined Special Olympics at the age of 9 after the family moved to the U.S. It opened up a whole new world. As she wrote in her journal, “After I came to Special Olympics, I don’t feel lonely any more.”

As Nandi trained in various sports and developed a range of skills, she also developed confidence as she was able to accomplish more and more, event by event, including track and field, roller skating, sailing, ice skating, hockey and even basketball. “She can shoot a mean basketball,” reports her mom. “I don’t know how she does it.”

Nandi’s many accomplishments—including having her own business—are helping to change attitudes and educate others about people with Down syndrome. Special Olympics has also encouraged Nandi to become a public speaker—and she makes a special effort to reach out to families of children with intellectual disabilities. Her mom says Nandi has an inspiring way of talking to families who had been told the worst, who now see positive possibilities ahead. Her mother says, “I can hear her talking to them, ‘Don’t cry: My mom says I’m a blessing—and your child will be a blessing, too.’”

Sources: The Eunice Kennedy Shriver National Institute of Child Health and Human Development/National Institutes of Health, the American Association of Intellectual and Developmental Disabilities, and the Centers for Disease Control and Prevention, and Special Olympics.

90,000 Down syndrome: signs, causes, statistics. Help

In Russia, the term “Down’s disease” is most often used. Some experts argue that there are even two diagnoses: Down’s disease and Down’s syndrome, but most scientists believe that this is not a disease, but a genetic disorder that determines the characteristics of a child’s development at an early age. “Syndrome” means a specific set of symptoms or characteristics.

According to the statistics of the World Health Organization, every 700-800th baby in the world is born with Down syndrome.This ratio is the same in different countries, climatic zones and social strata. Genetic malfunction occurs regardless of the parent’s lifestyle, health, habits, and education.

It is known that the risk of having a baby with Down syndrome depends on the age of the mother. For women under the age of 25, the probability of having a sick child is 1/1400, up to 30 – 1/1000, at 35 years old the risk increases to 1/350, at 42 years old – up to 1/60, and at 49 years old – up to 1 / 12. However, because young women generally give birth to many more children, the majority (80%) of all children with Down syndrome are actually born to young women under the age of 30.

A study conducted by scientists from the University of Mysore (India) identified four factors that affect the likelihood of Down syndrome in a child. This is the age of the mother, the age of the father, closely related marriages, and also, oddly enough, the age of the maternal grandmother. Moreover, the last of the four factors turned out to be the most significant. The older the grandmother was when she gave birth to her daughter, the higher the likelihood that she will give birth to her grandson or granddaughter with Down syndrome. This probability increases by 30% every year “missed” by the future grandmother.

For the study, published online in the British Medical Journal, experts analyzed data from a national registry that contained information on 26,000 identified cases of Down syndrome in England and Wales, diagnosed in both the prenatal and postnatal stages of development. They found that the number of children diagnosed with this disease has increased by three quarters since 1989, but the number of children born has decreased. It looks like this: in 1989-1990 – 1075 diagnosed cases, in 2007-2008 – 1843 diagnosed cases, the number of births decreased by 1%: from 752 to 743.

Every day, an average of three women in England have an abortion due to the discovery of Down syndrome in their unborn children. On average, 9 out of 10 women decide to terminate their pregnancy after they find out that their baby is sick. Studies show that about 1,100 babies in England and Wales are not born each year due to identified Down syndrome. This number has grown dramatically over the past two decades (in 1989, it was 30 babies).

If women had not been screened, the number of children born with Down syndrome would have doubled to 1422 in England and Wales.

According to the Downside Up Charitable Foundation, about 2,500 such children are born in Russia every year. 85% of families abandon a child with Down syndrome in a maternity hospital, including on the recommendation of medical personnel.

In Scandinavia, not a single case of abandonment of these children was recorded. In America, 250 families are queuing up for their adoption.

myths and facts – nakedheart.online

Myth 4. Life expectancy in people with Down syndrome is very low

This is not the case.As with all of us, the life expectancy of a person with Down syndrome is highly dependent on the quality of life and medical care. These components of life have changed dramatically in most countries over the past decades, and the life expectancy of people has also changed, especially for those for whom medical support is critical, which also applies to people with Down syndrome.

For example, according to the CDC, in the United States in the 1960s, the average life expectancy of a person with Down syndrome was 10 years, and now exceeds 60 years.

The same tendency for a significant increase in life expectancy is noted throughout the rest of the world, however, reliable Russian statistics, according to Downside Up experts, do not yet exist.

The life expectancy of a person with Down syndrome largely depends not only on the availability of medical care, but also on where he lives – in a family or in a closed institution (boarding school). Until the early 90s of the last century in the USSR, most children with Down’s syndrome were taken to orphanages immediately after birth.Living in such institutions for children with Down syndrome is a disaster. Their quality of life is very low there due to deprivation and inadequate care.

In addition, children with Down syndrome were often considered hopeless and did not receive the necessary medical care (for example, they were denied cardiac surgery for congenital heart defects). This led to the fact that many of them simply did not have a chance to survive. Suffice it to recall the foreign statistics of the 1960s and refusals in treatment during the Soviet era: then children with Down syndrome simply died due to the lack of help and the hardships of life in boarding schools – hence the myth that people with this disorder do not live long.

Since the mid-1990s, work has begun in Russia aimed at supporting families and preventing the placement of children with Down syndrome in orphanages and neuropsychiatric boarding schools, which is still ongoing. The first programs to support families who were raising a child at home appeared.

Major changes in legislation have taken place. There are no more such “diagnoses” as “unteachable” or “hopeless”. It is impossible to imagine that a person with developmental disabilities can be officially denied medical care, not undergo cardiological surgery on the child, or not take the child to kindergarten and school, etc. New effective services for children with Down syndrome and their families began to develop. Such programs help these children develop better and learn new things, improve the quality of life of the children themselves and their families, and help young people master the skills of supported employment. All this helps a person with Down syndrome to live a long and fulfilling life.

Elizabeth Head, Wayne P. Silverman, David Patterson, Ira T. Lott. Aging and Down Syndrome, – Current Gerontology and Geriatrics Research.2012

Tsao R., Kindelberger C., Fréminville B., Touraine R., Gerald Bussy. Am. Variability of the aging process in dementia-free adults with Down syndrome. Journal Intellect Dev Disabil. 2015 Jan; 120 (1): 3 15.

The life cycle of a person with Down syndrome in the 21st century: the connection between science and practice

Down syndrome – causes, development and support of children

Down syndrome is one of the forms of genetic abnormality, which manifests itself in the fact that a person’s chromosome set contains not 46, but 47 chromosomes. Such a slight difference in the karyotype affects the physical appearance, motility, health status of the patient, can affect mental abilities

Down Syndrome is a form of genetic abnormality, which manifests itself in the fact that a person’s chromosome set contains not 46, but 47 chromosomes. Such a slight difference in the karyotype is reflected in the physical appearance, motility, health of the patient, and can affect mental abilities.

Treatment of Down’s syndrome is currently impossible, that is, it is impossible to completely rid the child of a chromosomal abnormality.However, constant medical supervision and pedagogical assistance make it possible to achieve striking success in the development of children with this syndrome, as well as in socialization and the acquisition of labor skills.

Children with Down syndrome

A few decades ago, the diagnosis “ Down syndrome ” was actually a death sentence for a child. In the modern world, people with such a congenital disease can be quite successful and famous – become a teacher, scientist, model, actor, artist, athlete.Or at least they can lead a normal life – love, start a family, pursue a career, make friends, travel. Now such people are called “sunny”, they are full members of the family and society, gratefully respond to affection and care.

The development of children with Down syndrome differs in that from the very beginning of life babies lag behind in psychomotor development. Inactivity in the first months of life is due to the condition of the joints and muscle hypotonia.Also, babies experience late development of speech (may be aggravated by hearing impairment). However, every day the child acquires new skills, and this process is greatly accelerated if parents and specialists help him in this.

The development of children with Down syndrome is not quite the same as that of ordinary children. Parents should be patient, ready for unusual situations, for the fact that they will have to go to the doctors. For example, consultation of a pediatric neuropsychiatrist, cardiologist and all other narrow-profile specialists is absolutely necessary.Also, an obligatory and integral part of the treatment is psychological and pedagogical assistance, rehabilitation. If parents make constructive efforts from birth, child with Down syndrome can develop as a normal child with only a slight lag.

Causes and symptoms of Down syndrome

Down syndrome signs of :

  • The so-called “flat face”.
  • Shortening of the skull.
  • Characteristic “Mongoloid” eye section.
  • Open mouth.
  • Flat bridge and short nose.

The set of characteristics, which includes more than 20 parameters, does not provide a basis for making an accurate diagnosis. This is possible only after a blood test for the karyotype.

The causes of this genetic abnormality are not known. Normally, when a child is conceived, 23 maternal chromosomes and 23 paternal chromosomes are connected.But in some cases, one of the parents transmits to the child not 23, but 24 chromosomes. Why this is happening today, it was not possible to establish. For every 500-800 babies, 1 is born with Down syndrome. Scientists have not found a causal relationship between genetic failure and lifestyle, social status, region of residence, health status, ethnicity of the parents. Only one thing is known – the older the parents are, the more likely they are to have a child with Down syndrome .However, the mother’s age still plays an important role:

  • For women under 25, the probability of having a special child is 1 in 1400.
  • Before the age of 30, 1 in 1000 women have a baby with Down syndrome .
  • 90,090 At 35, the risk increases to 1 chance in 350.

Women who become pregnant at the age of 49-50 and older can give birth to a child with such a genetic abnormality with a probability of 1 in 12.

In addition to the age of the parents, risk factors are closely related marriages and the age at which the maternal grandmother gave birth.

Rehabilitation and treatment of children with Down syndrome in Khabarovsk

The most popular methods that are often used in treatment:

  • Correctional sessions with a speech therapist.
  • Physiotherapy.
  • Speech therapy massage.
  • Massage.
  • Physiotherapy exercises.
  • Classes with a psychologist.

Depending on the characteristics of the clinical picture and the condition of the child, other methods of therapy and rehabilitation can be used.

As already mentioned, in modern society, people with Down syndrome are well socialized. However, in the event that from childhood they were treated according to their condition and needs. Therefore, it is advisable to consult with specialists already in the first months of a child’s life.

The specialists of the Neocortex Center have extensive experience in working with children with Down syndrome. The center uses modern methods of correction and rehabilitation, which will improve motor skills, motor development, speech and communication skills of the child, and mental abilities.

The Ministry of Health of Udmurtia forbade doctors to discuss with the parents of a newborn with Down syndrome the topic of abandoning a child

Similar protocols have already been adopted in Ryazan, Nizhny Novgorod, Volgograd, Novgorod, Sverdlovsk regions.

Order “On improving the provision of medical care to children born with chromosomal abnormalities (Down’s syndrome) on the territory of the Udmurt Republic” was issued by the Republican Ministry of Health on February 4, 2020.The full text of the order can be found at the link.

In the document, in the very first paragraph, it is specifically stated that the order was issued “in order to improve the quality of medical care for children born with chromosomal abnormalities (Down syndrome), prevent social orphanhood, increase the efficiency of accompanying a family raising a child with Down syndrome, and create optimal conditions for the harmonious development of the child and his social adaptation ”.

The order includes, in addition to general guidelines, several important documents: a protocol for announcing a diagnosis to parents at the birth of a child with a chromosomal abnormality (Down syndrome), information for medical staff necessary to work with a family at the birth of a child with a similar pathology, recommendations for dispensary medical observation of children with Down syndrome from birth to 18 years.

“We’ve been promoting the protocol for three years. After a meeting at the end of November with the head of the republic Alexander Brechalov , where we voiced the fact that this is extremely necessary for our community, as it helps to reduce the trauma of parents who have a child with Down syndrome, he took the issue under his personal control. As a result, the protocol was adopted in two months, “the head of the Regional Public Movement in the Udmurt Republic in support of people with Down syndrome and their families” Sunny World “ Ksenia Krovko told the Agency of Social Information.

The protocol specifically notes that the medical staff is obliged to provide all information to the parents “in the correct form”, “the conversation should take place in confidentiality, in a separate room, together with the child. The conversation should take place in a calm, narrative manner. It is forbidden to: discuss the topic of abandonment of a child in a conversation with parents, separate the child from the mother without medical indications, state a subjective vision of the prospects for the life of the child and family, express personal opinions and forecasts. “

At the same time, only a geneticist can announce the final diagnosis to parents and only after carrying out the necessary research, including a cytogenetic examination. The child should be immediately registered, and he should be provided with all the necessary assistance in accompanying, treatment and dispensary observation.

According to Ksenia Krovko, the fact that now the family in which the child with Down syndrome is brought up will receive full-fledged qualified assistance at all stages of the child’s growing up, will help to reduce the number of refusals and social orphanhood.

“Lately, out of three known cases of parents’ doubts, children have ended up in the family. Two children were abandoned, but today both children have been adopted, ”Krovko added.

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Scientists have revealed the mechanism of Down syndrome

Photo caption,

Down syndrome is the most common genetic defect

American neurophysiologists managed to obtain brain cells from stem cells taken from patients with Down syndrome.This will allow for a better understanding of the nature of this genetic disorder.

An article on the results of a study by a group of scientists from the University of Wisconsin-Madison published in a scientific journal

Proceedings of the National Academy of Sciences.

Scientists have found in the study of such cells a reduction in the connections between them and defects in genes that counteract aging.

Down syndrome is caused by the appearance of 47 chromosomes instead of the normal 46.

This usually leads to abnormalities in the development of the child, as well as to the appearance of noticeable physical features.

A team of scientists led by neurophysiologist Anita Bhattacharya of the Weisman Center at the University of Wisconsin-Madison grew brain cells from stem cells obtained from the skin of two adults with Down syndrome.

This gave them the opportunity to take a fresh look at the features of the early stages of brain development in Down syndrome.

In particular, important data have been obtained that there are much fewer connections between the neurons of such cells.

“They interact less with each other, much less active.These findings are consistent with what little we know about the functioning of the brain with Down syndrome, “says Dr. Bhattacharya.

Neurons send signals through synapses, where electrical impulses are transmitted between two neurons or an effector cell.

Researchers have found that neurons Down syndrome sufferers have only 60% of the normal synapse and therefore show less activity.

“This is enough to affect early brain development,” says Dr. Bhattacharya.“Even if these synapses are restored later, gaps appear in the early stages of brain development.”

The researchers also looked at the structure of genes in neurons derived from stem cells from Down syndrome patients. couples have increased size, especially genes responsible for neutralizing free radical damage

This may explain why people with Down syndrome age faster, but the findings need further verification, the researchers note.

Carol Boyes, head of the British Down Syndrome Association, believes that these findings, obtained by a renowned group of neurophysiologists, are of considerable interest.

“This seems to be another step towards understanding the pathology in which chromosomes of the 21st pair, instead of the normal two, are represented by three copies. We are constantly receiving new data on the mechanisms that cause the occurrence of certain aspects of Down syndrome, and this can ultimately lead to the creation of new methods of treatment, “- she said.

causes, symptoms, diagnosis, classification

Among chromosomal pathologies, Down’s syndrome occupies a special place – 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 the 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 section, 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 receive secondary education and a profession, become full-fledged members of society and start their own family.

Do you have symptoms of Down syndrome?

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

  • congenital heart defects;
  • frequent infectious diseases;
  • leukemia;
  • 90,090 early onset of Alzheimer’s disease;

  • cessation of breathing during sleep;
  • 90,090 obesity, etc. d.


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

  • Ultrasound screening at 11-13 weeks evaluates 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 to clarify 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 syndrome consists only in monitoring the patient’s health and adjusting the complications of the underlying disease.

Prognosis 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.


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 eliminate 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;
  • to eat right, enriching the diet with healthy foods high in vitamins and minerals;
  • to 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;
  • timely undergo an ultrasound examination during pregnancy in order to detect 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 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’s 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 Down Syndrome. Down syndrome DNA diagnostics

Down Syndrome ( trisomy 21, Down Syndrome ) is one of the most common chromosomal abnormalities. The birth rate of children with Down syndrome is approximately 1 in 700-800 newborns and does not depend on gender.

Figure 1. An example of a diagnostician ics of Down’s syndrome by CF-PCR . Figure 2. Sick child with Down syndrome.
An example of the diagnosis of Down’s syndrome (trisomy on chromosome 21). Markers located in the region of chromosome 21, critical for the development of Down syndrome, are highlighted in yellow. In the genotype of the test sample for markers D21S1435 and D21S1409, 1 peak is observed (the marker is not informative), for markers D21S11 and D21S1446 – 3 peaks (trisomy), for marker D21S1442 – dose effect – an unequal ratio of the height of two peaks (trisomy).Thus, trisomy was detected for three markers (D21S11, D21S1446 and D21S1442), which makes it possible to establish the diagnosis of Down syndrome. The genetic sex corresponds to the female – there are no peaks corresponding to the Y-chromosome, according to the markers Amelogenin, 4SH, ZFXY, TAFL, and there is no peak of the SRY gene.

The method of karyotyping with differential chromosome staining has long been and continues to be the “gold standard” for detecting chromosomal abnormalities throughout the world. This method makes it possible to analyze the karyotype as a whole and to determine large (at least 5-10 million base pairs) chromosomal rearrangements. However, it has a number of limitations, such as labor intensity, duration (1-2 weeks), high requirements for the qualifications and experience of the specialist conducting the research, as well as, in some cases, technical problems (insufficient quantity and quality of the test material, absence of mitosis or growth of culture).

The method of quantitative fluorescent polymerase chain reaction (CF-PCR), which is increasingly used to diagnose aneuploidies, including Down’s syndrome, does not have these drawbacks (Fig.1). This method has reliability comparable to that of standard karyotyping, is faster, cheaper, less demanding on the quantity and quality of the material (since it is not associated with the growth of cell culture) and allows simultaneous analysis of a large number of samples. However, the CF-PCR method also has limitations: in mosaic cases, it allows detecting only high-level mosaicism (from 20%), in addition, it cannot exclude the presence of more rare chromosomal abnormalities that may be associated with fetal malformations. When conducting prenatal diagnostics of Down syndrome , in addition to the fetal material, it is necessary to provide biological material to the mother in order to exclude the possibility of obtaining a false negative result due to improper collection of fetal material. The analysis of the fetal material is carried out in three working days.

For patients with Down syndrome, the following external signs are characteristic: brachycephaly (abnormal shortening of the skull), flat nape, flat face, epicanthus (vertical skin fold at the inner corner of the eye, characteristic of the Mongoloid race), parted mouth, thick lips, wide flat tongue, which is often protruding outward, a short nose with a flat bridge, a sloping narrow forehead, small ears with an adherent lobe, age spots along the edge of the iris (Brushfield spots), a skin fold on the neck (in newborns), growth is usually below normal (Fig.2). In addition, there are changes in the limbs (their shortening, widening of the hands and feet, shortening of the fingers due to underdevelopment of the middle phalanges, clinodactyly of the little finger, one transverse fold on the palms), changes in the cardiovascular side (combined, multiple, congenital heart defects, anomalies large vessels), respiratory, digestive (intestinal stenosis, megacolon, atresia of the rectum and anus), endocrine system (congenital hypothyroidism), visual impairment (congenital cataract, glaucoma, strabismus), hearing. The intelligence of patients with Down syndrome is reduced to the level of moderate mental retardation. The intelligence quotient (IQ) varies between 20 and 75. Even in adult patients, mental development does not exceed the level of a normal seven-year-old child.

The cause of the development of Down’s disease is the tripling of the entire chromosome 21 (about 95% of cases of Down syndrome) or its critical region – 21q22 – (about 5% of cases). In the latter case, an additional copy of this region is translocated to another chromosome (most often at 14 or 21). Trisomy on chromosome 21 is a special case of aneuploidy – the presence in the genome of a set of chromosomes that is different from the standard for a given species and not multiple to it. Chromosome 21 trisomy is usually caused by a nondisjunction of chromosomes during the formation of the parent’s sex cells (eggs and sperm), as a result of which the child receives an extra chromosome 21 from the mother (about 90% of cases) or from the father (about 10% of cases). In this case, all cells of the child’s body will carry an anomaly.In the case when the nondisjunction of chromosomes occurs during the division of any cell of the embryo, a mosaic version of Down’s syndrome is observed (2-4% of cases). Clinical manifestations in this case, as a rule, are less pronounced and are determined by the degree of mosaicism, however, certain difficulties arise when carrying out prenatal diagnostics.

The risk of having a baby with Down syndrome depends on the age of the parents. It has been shown that with the age of parents, the process of division and maturation of germ cells becomes less accurate, in particular, the risk of chromosome nondisjunction increases, which explains the increased risk of having children with chromosomal abnormalities.For women under the age of 25, the probability of having a sick child is 1/1400, up to 30 – 1/1000, at 35 years old the risk increases to 1/350, at 42 years old – up to 1/60, and at 49 years old – up to 1 / 12. However, because young women generally give birth to many more children, the majority (80%) of all children with Down syndrome are actually born to women under the age of 30. According to the latest data, the age of the father, especially if he is over 42 years old, also increases the risk of Down syndrome in the child.

Possible prenatal (prenatal) detection of Down’s disease.Currently, prenatal diagnostics of Down syndrome in Russia includes two stages. At the first stage, at 11-13 weeks of gestation, screening is carried out, which is based on specific ultrasound signs (collar space thickness, fetal nasal bone size, etc.) in combination with biochemical analysis of the level of certain proteins in the blood of a pregnant woman (free β- subunit of human chorionic hormone (β-hCG) and pregnancy associated plasma protein-A (PAPP-A)), taking into account her age, allows her to calculate the risk of having a sick child for her.However, these methods do not make it possible to make an accurate diagnosis, and as a result of the screening, a risk group of pregnant women is only formed with an increased likelihood of giving birth to a patient with Down syndrome. At the second stage, in the risk group, an invasive procedure is performed to obtain the fetal material necessary for an accurate analysis for Down syndrome. Depending on the gestational age, this can be a chorionic villus sampling (8-12 weeks), amniocentesis (14-18 weeks), or cordocentesis (at a later date).In the obtained fetal tissue samples, the chromosome set is determined.

At the Center for Molecular Genetics, diagnostics of Down syndrome (including prenatal) is carried out by the CF-PCR method.

Down syndrome