What are the main causes of spina bifida. How does family history affect the risk of spina bifida. Can certain medications increase the likelihood of having a baby with spina bifida. What role does folic acid play in preventing spina bifida.

Understanding Spina Bifida: A Neural Tube Defect

Spina bifida is a complex congenital condition that occurs when the neural tube fails to close properly during early embryonic development. This neural tube defect can lead to various spinal cord abnormalities, ranging from mild to severe. While the exact cause remains unknown, several factors have been identified that may increase the risk of a baby developing spina bifida.

What is spina bifida?

Spina bifida is a condition where the bones of the spinal column do not fully enclose the spinal cord, potentially resulting in nerve damage. It is classified as a neural tube defect because it stems from abnormalities in the development of the neural tube, which eventually forms the brain and spinal cord.

How does spina bifida manifest?

Children born with spina bifida may have a meningocele, a fluid-filled sac on their back covered by skin. In more severe cases, known as myelomeningocele, the sac contains part of the spinal cord and its protective covering. The severity of symptoms depends on the location and extent of the spinal opening.

The Crucial Role of Folic Acid in Preventing Spina Bifida

One of the most significant factors influencing the risk of spina bifida is folic acid intake during pregnancy. Folic acid, also known as vitamin B9, plays a vital role in preventing neural tube defects.

How effective is folic acid in preventing spina bifida?

Studies have shown that taking folic acid supplements before conception and during early pregnancy can prevent up to 70% of neural tube defects, including spina bifida. While the exact mechanism is not fully understood, folic acid is believed to be essential for important biochemical reactions in the body.

Where can folic acid be found?

Folic acid occurs naturally in various foods, including:

• Broccoli
• Peas
• Brown rice
• Some fortified breakfast cereals

Additionally, folic acid supplements are available over-the-counter at pharmacies and supermarkets. In some cases, a GP may prescribe folic acid supplements.

Genetic Factors and Family History in Spina Bifida Risk

Family history plays a significant role in determining the risk of having a baby with spina bifida. Understanding these genetic factors is crucial for expectant parents with a family history of neural tube defects.

How does family history affect spina bifida risk?

Having a family member with a neural tube defect, such as spina bifida, increases the chances of having a baby with the condition. If you have previously had a child with spina bifida, the risk for subsequent pregnancies is higher.

What precautions should be taken with a family history of spina bifida?

For individuals with a family history of spina bifida, it is crucial to take high-dose folic acid supplements, as prescribed by a GP, before conception and for at least the first 12 weeks of pregnancy. This proactive approach can significantly reduce the risk of neural tube defects.

Medications and Their Impact on Spina Bifida Risk

Certain medications taken during pregnancy have been associated with an increased risk of spina bifida and other birth defects. Understanding these risks is essential for women who require medication while pregnant or planning to conceive.

Which medications are linked to spina bifida?

Two medications commonly associated with an increased risk of spina bifida are:

1. Valproate
2. Carbamazepine

These drugs are often used to treat epilepsy and certain mental health conditions, such as bipolar disorder.

How should medication use be managed during pregnancy?

Doctors typically try to avoid prescribing these medications to women who may become pregnant. However, in some cases, these medicines may be necessary if alternatives are not effective. Women taking these medications should use reliable contraception if not trying to conceive. If pregnancy is desired, consultation with a healthcare provider is crucial to discuss potential risks and adjust treatment plans accordingly.

Obesity and Diabetes: Additional Risk Factors for Spina Bifida

Besides genetic and medication-related factors, certain health conditions can also influence the risk of having a child with spina bifida.

How does obesity affect spina bifida risk?

Women who are obese (with a body mass index of 30 or more) have a higher likelihood of having a child with spina bifida compared to those of average weight. This underscores the importance of maintaining a healthy weight before and during pregnancy.

Is diabetes a risk factor for spina bifida?

Women with diabetes may have an increased risk of having a child with spina bifida. Proper management of diabetes before and during pregnancy is crucial for reducing this risk.

Genetic Conditions Associated with Spina Bifida

In rare cases, spina bifida may occur alongside certain genetic conditions. Understanding these associations can help in prenatal diagnosis and appropriate medical management.

Which genetic conditions can co-occur with spina bifida?

Spina bifida can rarely be associated with genetic conditions such as:

• Patau’s syndrome
• Edwards’ syndrome
• Down’s syndrome

How are these genetic conditions diagnosed?

If spina bifida is detected and there’s suspicion of an associated genetic condition, diagnostic tests such as amniocentesis or chorionic villus sampling may be offered. These tests can confirm the presence of genetic abnormalities.

Treatment and Management of Spina Bifida

While spina bifida can lead to various complications, advances in medical care have significantly improved outcomes for affected individuals.

What are the potential complications of spina bifida?

Depending on the severity and location of the spinal opening, complications may include:

• Loss of sensation below the affected area
• Weakness or paralysis of the feet or legs
• Bladder and bowel control issues
• Hydrocephalus (buildup of excess fluid around the brain)
• Learning difficulties

How is spina bifida treated?

Treatment for spina bifida typically involves a multidisciplinary approach, including:

1. Surgery to close the spinal opening
2. Ongoing medical care to manage complications
3. Physical therapy to improve mobility and strength
4. Occupational therapy to enhance daily living skills
5. Educational support for learning challenges

With appropriate treatment and support, many individuals with spina bifida can lead fulfilling lives and achieve their goals.

Preventive Measures and Future Research

While not all cases of spina bifida can be prevented, certain measures can significantly reduce the risk. Ongoing research continues to shed light on the condition and potential prevention strategies.

What are the key preventive measures for spina bifida?

The most important preventive measures include:

• Taking folic acid supplements before and during early pregnancy
• Maintaining a healthy diet rich in folate
• Managing pre-existing health conditions such as diabetes
• Avoiding harmful medications during pregnancy
• Maintaining a healthy weight before and during pregnancy

What does the future hold for spina bifida research?

Ongoing research in the field of spina bifida focuses on:

1. Improving prenatal diagnosis techniques
2. Developing more effective fetal surgical interventions
3. Understanding the genetic factors contributing to neural tube defects
4. Exploring new treatments to improve quality of life for those with spina bifida
5. Investigating potential environmental factors that may influence risk

As our understanding of spina bifida grows, so does the hope for better prevention strategies and treatments for those affected by this condition.

Support and Resources for Families Affected by Spina Bifida

Living with spina bifida or caring for a child with the condition can be challenging. Fortunately, numerous support systems and resources are available to help families navigate these challenges.

What types of support are available for families?

Families affected by spina bifida can access various forms of support, including:

• Medical support teams specializing in spina bifida care
• Support groups for parents and individuals with spina bifida
• Educational resources and advocacy organizations
• Financial assistance programs for medical expenses
• Counseling services for emotional support

How can families connect with these resources?

To access support and resources, families can:

1. Consult with their healthcare providers for referrals
2. Contact national spina bifida associations for information and guidance
3. Join online communities and forums for peer support
4. Attend spina bifida-specific conferences and events
5. Reach out to local disability support organizations

By leveraging these resources, families can better navigate the challenges associated with spina bifida and ensure the best possible outcomes for their loved ones.

Spina bifida – Causes – NHS

It’s not known what causes spina bifida but a number of things can increase the risk of a baby developing the condition.

Lack of folic acid

Not having enough folic acid during pregnancy is one of the most important factors that can increase your chances of having a child with spina bifida.

Folic acid (also known as vitamin B9) occurs naturally in some foods, such as broccoli, peas and brown rice. It’s also added to foods, such as some breakfast cereals. Folic acid tablets are available from pharmacies and supermarkets, or a GP may be able to prescribe them for you. 

It’s estimated that taking folic acid supplements before you conceive and while you’re pregnant may prevent up to 7 out of 10 cases of neural tube defects, such as spina bifida.

It’s not clear how folic acid helps prevent spina bifida. It’s likely that folic acid is needed for important biochemical reactions in the body.

Read more about why you need folic acid in pregnancy.

Family history

Having a family member with a neural tube defect, such as spina bifida, increases your chances of having a baby with spina bifida.

If you’ve previously had a child with spina bifida, your chance of having other children with the condition is increased.

If you have a family history of spina bifida, it’s very important that you take high-dose folic acid, prescribed by a GP before you become pregnant, and for at least the first 12 weeks of pregnancy.

Medicine

Taking certain medicines during pregnancy has been linked to an increased risk of having a baby with spina bifida or other birth defects.

Valproate and carbamazepine are medicines linked to spina bifida. They’re often used to treat epilepsy, and some mental health conditions, such as bipolar disorder.

Doctors will try to avoid prescribing these medicines if there’s a chance you could get pregnant while taking them, but they may be needed if the alternatives are not effective.

It’s advisable to use a reliable form of contraception if you need to take one of these medicines and are not trying to get pregnant.

Tell your doctor if you’re thinking about trying for a baby and you need to take one of these medicines. They may be able to lower the dose and prescribe folic acid supplements at a higher than normal dose, to reduce the risk of problems.

If you’re not sure whether a medicine could affect your pregnancy, check with your doctor, midwife or pharmacist before taking it. Never stop taking a prescribed medicine unless a GP or another healthcare professional responsible for your care advises you to.

Genetic conditions

Very rarely a baby can have spina bifida alongside a genetic condition such as Patau’s syndrome, Edwards’ syndrome or Down’s syndrome.

If your baby is found to have spina bifida and it’s thought they may also have one of these syndromes, you’ll be offered a diagnostic test, such as amniocentesis or chorionic villus sampling. These tests can confirm if your baby has one of these genetic conditions. 

Other risk factors

Other risk factors for spina bifida include:

• obesity – women who are obese (have a body mass index of 30 or more) are more likely to have a child with spina bifida than those of average weight
• diabetes – women with diabetes may have an increased risk of having a child with spina bifida

Page last reviewed: 20 April 2020
Next review due: 20 April 2023

Spina bifida: MedlinePlus Genetics

Description

Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. Part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect.

Children born with spina bifida often have a fluid-filled sac on their back that is covered by skin, called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is contained in the sac. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood.

In a milder form of the condition, called spina bifida occulta, the bones of the spinal column are abnormally formed, but the nerves of the spinal cord usually develop normally. Unlike in the more severe form of spina bifida, the spinal cord does not stick out through an opening in the spine. Spina bifida occulta most often causes no health problems, although rarely it can cause back pain or changes in bladder function.

Frequency

Spina bifida is one of the most common types of neural tube defect, affecting an estimated 1 in 2,500 newborns worldwide. For unknown reasons, the prevalence of spina bifida varies among different geographic regions and ethnic groups. In the United States, this condition occurs more frequently in Hispanics and non-Hispanic whites than in African Americans.

Causes

Spina bifida is a complex condition that is likely caused by the interaction of multiple genetic and environmental factors. Some of these factors have been identified, but many remain unknown.

Changes in dozens of genes in individuals with spina bifida and in those of their mothers may influence the risk of developing this type of neural tube defect. The best-studied of these genes is MTHFR, which provides instructions for making a protein that is involved in processing the vitamin folate (also called vitamin B9). A shortage (deficiency) of this vitamin is an established risk factor for neural tube defects like spina bifida. Changes in other genes related to folate processing and genes involved in the development of the neural tube have also been studied as potential risk factors for spina bifida. However, none of these genes appears to play a major role in causing the condition.

Researchers have also examined environmental factors that could contribute to the risk of spina bifida. As mentioned above, folate deficiency appears to play a significant role. Studies have shown that women who take supplements containing folic acid (the synthetic form of folate) before they get pregnant and very early in their pregnancy are significantly less likely to have a baby with spina bifida or a related neural tube defect. Other possible maternal risk factors for spina bifida include diabetes mellitus, obesity, exposure to high heat (such as a fever or use of a hot tub or sauna) in early pregnancy, and the use of certain anti-seizure medications during pregnancy. However, it is unclear how these factors may influence the risk of spina bifida.

Inheritance

Most cases of spina bifida are sporadic, which means they occur in people with no history of the disorder in their family. A small percentage of cases have been reported to run in families; however, the condition does not have a clear pattern of inheritance. First-degree relatives (such as siblings and children) of people with spina bifida have an increased risk of the condition compared with people in the general population.

Other Names for This Condition

• Cleft spine
• Open spine
• Rachischisis
• Spinal dysraphism

Additional Information & Resources

Genetic Testing Information

• Genetic Testing Registry: Neural tube defect
• Genetic Testing Registry: Neural tube defects, folate-sensitive

Genetic and Rare Diseases Information Center

• Spina bifida
• Spina bifida occulta

Patient Support and Advocacy Resources

• Disease InfoSearch
• National Organization for Rare Disorders (NORD)

Research Studies from ClinicalTrials.

gov

• ClinicalTrials.gov

Catalog of Genes and Diseases from OMIM

• NEURAL TUBE DEFECTS, FOLATE-SENSITIVE
• NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO

Scientific Articles on PubMed

• PubMed

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Spina bifida (spina bifida) – treatment, symptoms, causes, diagnosis

Spina bifida (spina bifida) is a complex congenital defect in the development of the spinal cord and spine. This is a type of open neural tube defect in which there is an abnormal development of the back of the spine, the spinal cord, the surrounding nerves, and/or the fluid-filled sac that surrounds the spinal cord.

Spina bifida (back bifida) is an incurable, life-long condition that affects the neuromuscular and musculoskeletal systems.

This defect varies by type and ranges from moderate to severe.

Children with this defect may need corsets as the body grows, and in severe cases, a wheelchair.

Treatment is mainly aimed at slowing down the deformity and maintaining motor activity.

The defect may occur along the entire length of the spine and may present as part of the spinal cord and surrounding tissues protruding outward rather than inward. Approximately 85 percent of defects occur in the lower back and 15 percent in the neck and thoracic region. Surgically, it is possible to restore the integrity of the spinal column, but nerve damage cannot be restored, and if they are pronounced, then patients have various degrees of paresis of the lower extremities. The higher the defect on the spinal column, the more severe the nerve damage and movement disorders (paresis and paralysis).

According to studies, this developmental anomaly occurs in 7 cases per 10,000 newborns. There are several types of spina bifida that have varying degrees of severity.

• Latent spina bifida (spina bifida occulta) – the most moderate form, in which there are no obvious signs of malformation and changes in the skin. In this form, at least one vertebra changes, but the nerves and spinal cord do not bulge. A child at birth may have a spot or depression in the area of ​​the anomaly. And usually, the baby will not have symptoms. With this form of anomaly (as well as with others), there may be an anomaly in the development of the spinal cord, characterized by attachment of the spinal cord to the spine to the end of the lumbar region, when normally the spinal cord ends at the level of the first lumbar vertebrae and sags freely without attachment to the spine.
• Meningocele is a moderate (and the most common) anomaly in which the spinal canal is not properly closed and the meninges (membranes that cover the spinal cord) bulge outside the bony structures of the spinal canal, but the spinal cord itself remains intact. The cystic mass is covered with skin. Most children with meningocele have normal limb function, but may have partial paresis or abnormalities of the bladder or bowel. With this anomaly, there is often underdevelopment of the spinal cord. Almost all patients with this anomaly require surgery to close the defect and free the spinal cord.
• Lipomeningocele is an anomaly in which fatty tissue is attached to the spinal cord and puts pressure on it. Children with this form of anomaly may not have severe nerve damage, but bladder and bowel function may be impaired. In these cases, surgical treatment is also often used.
• Myelomeningocele: the most severe common form and associated with spina bifida. The spinal canal is not closed, and the bulging mass consists of the meninges, pathologically altered spinal cord, and nerves. In addition, in this area the skin is also underdeveloped. In children with this form of spinal cord splitting, paresis below the defect and dysfunction of the pelvic organs are observed in whole or in part. In addition, nerve damage and other pathologies are observed.

Symptoms

The symptoms of spina bifida vary greatly, depending on the form and severity of the individual child. For example, at birth:

• In latent splitting (spina bifida occulta), there may be no obvious signs or symptoms—only a small spot, depression, or birthmark.
• With a meningocele, there will be a sac-like protrusion that will be located on the back in the spinal region.
• With myelomeningocele, there will also be a protrusion, but with altered skin, there will be a release of nerves and spinal cord.

In severe spina bifida with localization in the lumbar spine, the following symptoms may occur: paralysis of the lower extremities, dysfunction of the bladder, intestines. In addition, these patients usually have other developmental anomalies:

• Hydrocephalus occurs in 75 percent of myelomeningocele cases and this condition requires operative endoscopic treatment in order to restore normal CSF flow or a shunt to drain excess fluid from the brain.
• Chiari anomaly (displacement of the brain into the upper cervical vertebrae) can cause pressure on the brainstem, which can manifest as impaired speech, swallowing, and motor disorders in the limbs.
• Underdevelopment of the spinal cord Orthopedic problems including scoliosis, kyphosis, hip dysplasia (congenital dislocation), combined deformities, clubfoot, etc.
• Precocious puberty (especially in girls with spina bifida and hydrocephalus).
• depression and other neurotic conditions
• obesity
• dermatological problems
• developmental anomalies of the urinary tract.
• heart disease
• vision problems

Diagnosis

Diagnosis may be performed during pregnancy to evaluate the fetus for spina bifida. These include:

• Amniocentesis: A procedure in which a long, thin needle is inserted through the mother’s abdomen into the amniotic sac to remove a small amount of amniotic fluid for examination. The fluid is analyzed to determine the presence or absence of an open neural tube defect. Although the analysis is very reliable, it does not allow diagnosing small or closed defects.
• Prenatal ultrasound: this technique, being absolutely harmless, allows you to non-invasively assess the condition and visualize the internal organs, vessels, tissues of the fetus. Sometimes it is possible to diagnose not only spina bifida, but also other anomalies.
• Blood tests: It is recommended that blood tests be performed between 15 and 20 weeks of gestation for all women who have not previously had a child with an open neural tube defect and who have no family history of the condition. A blood test for alpha-fetoprotein and other biochemical parameters can determine how high the risk of developing spinal anomalies is.
• At birth, severe cases of spina bifida are evident by the presence of a fluid-filled sac bulging on the back of the newborn. Visual indicators of mild forms (spina occulta) may be a hairy patch on the skin or a depression along the spine. Unusual weakness or lack of coordination in the lower extremities also suggests spina bifida. In children and adults, this anomaly is often diagnosed during routine studies or, if necessary, to differentiate neurological symptoms using instrumental research methods (MRI, CT, radiography).

Causes

During pregnancy, the human brain and spinal column begin to form as a flat sheet of cells that folds into a tube called the neural tube. If all or part of the neural tube fails to close, then the open area is called an open neural tube defect. An open neural tube is open in 80 percent of cases, and is covered by bone or skin in 20 percent of cases. The cause of spina bifida (spina bifida and other defects) remains unknown, but is most likely the result of a combination of genetic, nutritional, and environmental factors, such as:

• maternal dietary deficiency of folic acid (vitamin B) during pregnancy (sufficient folic acid intake during pregnancy may reduce the risk of this anomaly).
• maternal uncontrolled diabetes
• Certain medicines (antibiotics, anticonvulsants).
• A genetic factor is usually only relevant in 10 percent of cases.
• Mother’s age
• What kind of births on the account (firstborns are more at risk).
• Socioeconomic status (children born in lower socioeconomic families are at higher risk).
• ethnicity
• obesity or excessive consumption of alcohol by a pregnant woman
• When exposed to pregnant hyperthermia in the early stages (sauna, jacuzzi).

Treatment

Spina bifida can be treated immediately after birth. If this defect is diagnosed prenatally, then a caesarean section is recommended in order to reduce possible damage to the spinal cord during the passage of the birth canal. Newborns with meningocele or myelomeningocele are recommended to have surgery within 24 hours of birth. With this operation, the bone defect is closed and it is possible to preserve the function of the intact part of the spinal cord. Unfortunately, surgical treatment cannot restore the function of damaged nerves as they are irreversible.

Currently, there are clinics that perform prenatal surgery to close the defect, but the techniques have not yet found wide application. The main task of treatment, both in a non-severe form and in the postoperative period, is to preserve the functions of both the musculoskeletal system and the functions of the bladder and intestines. If necessary, orthoses, therapeutic exercises, physiotherapy are used.

In cases where spina bifida is detected by chance during X-ray (MRI, CT) examination, measures must be taken to reduce the risk of spinal cord injury in the area of ​​the spine where this defect exists.

Operative treatment in adults is used only in the presence of complications. Basically, treatment in adults is aimed only at preventing possible complications (exercise therapy, physiotherapy, wearing a corset).

Congenital cleft lip and palate — unique results of treatment at the Turner National Research Center for Traumatology and Orthopedics of the Ministry of Health of Russia for the surgical treatment of congenital cleft lip and palate for all citizens of the Russian Federation.

Assistance is provided under the program of state guarantees of free assistance to citizens and within the framework of high-tech medical care. During the work, vast experience has been accumulated, unique methods of leading specialists have been patented. Treatment is carried out on the basis of the Clinic of Maxillofacial and Reconstructive Plastic Surgery.

What are congenital cleft lip and palate?

Congenital cleft lip and palate (cheiloschisis) is a splitting of the soft tissues in the middle part of the lip (cleft cleft lip) and/or rupture of the palate (colloquial cleft palate). This severe malformation of the maxillofacial region is accompanied by gross functional disorders. In addition, a feature of this pathology is a pronounced deformation of the nose in the form of shortening of the nasal septum, flattening of the tip and wings of the nose. Pathologically attached muscles of the upper lip and nasal region further exacerbate these deformities.

This pathology is formed in the embryo up to 8-12 weeks due to the processes of the palate and lips not fused in time. Congenital cleft lip and palate is more common in boys.

The average birth rate of children with cleft lip and palate is 1:800 newborns. In the most industrially intense regions with a developed chemical industry, the frequency of a child being born with a congenital cleft lip and palate is much higher: 1:500/1:450 newborns.

The process of correction of congenital cleft lip and palate and subsequent stages of rehabilitation is often complicated by a variety of combined pathologies from other organs, in particular the nervous system. Anatomical changes in the maxillofacial region lead to a persistent functional defect in all departments of voice and speech production. A severe speech disorder develops, rhinolalia, in which all aspects of speech suffer: breathing, voice, changes in the muscles of the pharynx, oral cavity and face are observed, pathological articulation develops, phonemic hearing is disturbed, and auditory perception is distorted. The severity of anatomical and functional disorders is directly related to the type of cleft lip.

Children with congenital cleft lip and palate are childhood invalids, and until the end of the formation of the maxillofacial region, up to 14–16 years, as a rule, they are under the constant attention of a surgeon, orthodontist, pediatrician, neuropathologist, speech therapist. However, with a clear, well-coordinated work of highly qualified specialists based on specialized centers, with the active participation and support of parents, it is possible to significantly reduce the period of disability for children.

What is the cause of congenital cleft lip and palate?

“One of the main causes of congenital cleft lip and palate is maternal illness in early pregnancy. This may be the influence of psychogenic factors: severe stress, unrest. This may be work at some enterprises with occupational hazards. Undoubtedly, bad habits cause irreparable harm to the development of the fetus. According to statistics, about 10-15% of the total number of children born with clefts have a genetic predisposition” – informs the head of the Department of Pediatric Maxillofacial and Plastic Surgery (Department 8) of the FSBI “National Research Center for Pediatric Traumatology and Orthopedics named after G. I. Turner” Ministry of Health of Russia, candidate of medical sciences, maxillofacial surgeon Stepanova Yulia Vladimirovna.

Diagnosis and classification

The diagnosis of “congenital cleft lip and palate” is clinical and is established by a doctor on the basis of a visual examination, anthropometric, radiological and ultrasound methods of research.

Types of congenital cleft lip and palate:

• unilateral cleft lip: hidden, partial, complete;
• bilateral cleft lip: hidden, partial, complete;
• unilateral cleft lip and alveolar process: partial, complete;
• bilateral cleft lip and alveolar process: partial, complete;
• unilateral complete cleft lip and palate;
• Bilateral complete cleft lip and palate
• congenital cleft palate: submucosal, partial, complete.

Cleft lip and palate treatment – unique techniques and inspiring results

At the Turner National Research Center for Pediatric Traumatology and Orthopedics of the Ministry of Health of Russia, complex treatment of children with cleft lip and palate is carried out by highly qualified specialists. For successful treatment of cleft lip and palate, it is necessary to predict the expected results and a clear plan for the various stages. From the birth of a child to the age of 14-16, a multi-stage treatment is carried out with the participation of a large number of specialists.

Treatment of children with this pathology includes:

• preoperative orthodontic and orthopedic preparation;
• surgical treatment (reconstructive and plastic surgery): must be completed before the child’s speech – by 3 years;
• orthodontic and orthopedic treatment after surgery, preventing the development of secondary deformities of the nose and upper lip.

The entire period of complex treatment can be conditionally divided into 5 stages:

1. Early orthodontic treatment: from birth to cheilorhinoplasty. The duration of this stage depends on the type and severity of the cleft and the general somatic condition of the patient. This stage can last up to 3-6 months, and in the presence of severe concomitant defects – up to 12-18 months. The coordinator of the work is the surgeon.
2. Cheilorhinoplasty is a complex plastic surgery, in which the task is not only to restore the anatomical shape of the upper lip and palate, but also to normalize the functions of breathing, nutrition and speech. When performing the primary operation, the task is not only to eliminate the congenital cleft of the upper lip, to create the correct shape of the red border, but also to correct the congenital deformity of the nose in full, create a sufficient depth of the vestibule of the mouth, and perform primary periosteoplasty.
3. Postoperative observation, elimination of residual deformities, preparation for uranoplasty. A huge role in maintaining the optimal result and consolidating the success obtained during the primary surgical intervention is played by massage, myogymnastics of the lips and nose, as well as the use of individual inserts in the nasal passages in the postoperative period, which allow you to maintain nasal breathing, keep the nasal septum and wing in the correct position, prevent rough scarring. The correction of the liner is carried out taking into account the growth of the child – 1 time in 3 months. The duration of use of the inserts is determined taking into account the individual characteristics of each patient. These measures not only prevent the development of cicatricial deformities, but also contribute to the growth and development of underdeveloped tissues at birth. Both a doctor and parents can carry out these conservative procedures at home under the constant periodic supervision of a surgeon and a speech therapist. Orthodontic treatment prior to uranoplasty is combined with the use of a floating obturator. This medical device significantly improves the functions of nutrition, swallowing, and subsequently speech, prevents the formation of a pathological position of the tongue in the oral cavity and distorted compensatory sound production, contributes to the normalization of impaired respiratory function and aerodynamic conditions of sound production, and allows speech therapy work in the preoperative period. The better the early orthodontic treatment, the more effective the results of subsequent speech correction, and hence social rehabilitation. Preparation for uranoplasty lasts exactly as long as it takes to normalize the bite. Orientation sessions are held with a speech therapist. Constant monitoring by the surgeon and all the necessary specialists is carried out.
4. Uranoplasty – the G. I. Turner National Research Center for Pediatric Traumatology and Orthopedics of the Ministry of Health of Russia uses a sparing uranoplasty technique, which allows in one stage to form an anatomically correct, functionally full-fledged palate in the treatment of any form of cleft. The technique has a patent of the Russian Federation for the invention. Uranoplasty is performed at the age of 8 months to 3 years, depending on the form of the cleft and the somatic condition of the child.
5. Final rehabilitation: adherence to the basic principles of rehabilitation of children with congenital cleft lip and palate not only significantly improves the aesthetic and functional results of treatment, but also minimizes the number of repeated corrective operations. The stage of final rehabilitation includes activities for the production of sounds and speech formation. One of the main indicators of the effectiveness of surgical treatment of children with congenital cleft lip and palate is the quality of speech development in the postoperative period. Children with congenital cleft palate begin classes with a speech therapist in the hospital from the first days after uranoplasty. In addition, during this period, an orthodontist actively monitors the state of bite. All possible deviations in the development of the upper jaw, the position of the intermaxillary bone with bilateral cleft lip, anomalies in the position and eruption of teeth are revealed. The choice of apparatus and the tasks of orthodontic treatment are determined by the specific manifestations of the anomaly and the age of the patient. During the period of temporary occlusion, removable single-jaw and double-jaw devices are used.

Undoubtedly, the priority of surgical operations in the complex of measures in the treatment of congenital cleft lip and palate. However, this is only one link out of many links in the complex of ongoing activities. If during the period of preparation for the primary operation of cheilorhinoplasty orthodontic treatment is not carried out, the congenital deformity of the upper jaw is not corrected, then the result of surgical treatment will never be positive, especially in the case of unilateral and bilateral complete cleft lip. The same relationship exists during uranoplasty.