Down syndrome

Usually, Down syndrome in a baby is identified prenatally (while the baby is in the womb) through pregnancy screening tests. It is also possible that the doctor may suspect a case of Down syndrome at birth or during follow-up visits due to the characteristic physical appearance associated with the condition.

1. Characteristic Physical Appearance

• A flattened face with a protruding tongue (tongue sticking out of the mouth)
• A small head and a short neck
• Upward slanting eyelids and tiny white spots on the colored part (iris) of the eye
• Unusually shaped small ears
• Short stature
• Broad, small hands and tiny fingers with a single crease in the palm
• Excessive flexibility
• Poor muscle tone

Along with these characteristic physical appearances, children with Down syndrome also experience intellectual and developmental disabilities and may develop other health-related comorbidities.

2. Intellectual Disabilities

Most children with Down syndrome have impaired cognitive function, reduced intelligence, poor memory, and language difficulties.

3. Developmental Disabilities

Children with Down syndrome often face difficulties in attaining physical and developmental milestones, such as crawling, learning to walk, and holding objects.

4. Cardiac Abnormalities

Congenital heart defects, such as atrioventricular septal defect and Fallot's tetralogy, are highly prevalent in babies with Down syndrome. These defects can be a significant cause of morbidity and mortality.

5. Gastrointestinal Tract Abnormalities

Babies born with Down syndrome are more prone to structural abnormalities of the intestine, such as intestinal obstruction, and associated diseases such as GERD (gastroesophageal reflux disease).

6. Hematologic Abnormalities

Newborn babies with Down syndrome often have abnormal blood counts within the first few months of life. However, these conditions are generally not severe and resolve within 3-4 weeks. Patients with Down syndrome have a tenfold higher risk of developing leukemia.

7. Neurologic Abnormalities

Reduced muscle tone is a characteristic neurologic abnormality in patients with Down syndrome. They are also more prone to seizures and early-onset Alzheimer's disease.

8. Hormonal Imbalance

Hypothyroidism is common in patients with Down syndrome. It may cause delays in the onset of puberty. Sexual development with age may also be affected or delayed in children with this condition.

9. Vision Abnormalities

Changes in the eye and vision, such as refractive errors, cataracts, and retinal anomalies, are very common in children with Down syndrome.

It is caused by a gene mutation in a chromosome. Both mother and father contribute one chromosome each to form a single pair, creating the unique genetic code of a child. However, due to certain maternal or environmental factors, chromosomes may mutate, resulting in the baby being born with an extra copy of chromosome 21.

Chromosomes are bundles of genes inherited by the child from its parents. They come in pairs, and the body requires just the right number of pairs for proper development. Healthy individuals have 23 pairs of chromosomes. The presence of an extra copy of chromosome 21 leads to the characteristic physical and developmental challenges associated with Down syndrome.

The risk of a baby being born with Down syndrome is comparatively high:

• In women who conceive at or after 35 years of age. The chance of conceiving a baby with Down syndrome is 1 in 350 for a woman aged 35 years. The risk may increase with the mother's age.
• With increasing father's age. There is a rare possibility that a parent may be a carrier of the gene and pass it to their offspring. This condition is known as translocation Down syndrome.
• In parents who already have one child with Down syndrome. They may be at a greater risk of having more children with the same condition.
• If someone in the close family has Down syndrome.

Broadly, there are two types of tests to check for Down syndrome: Screening Tests and Diagnostic Tests.

1. Screening Tests

• USG Fetal Well Being (7-10 weeks) - This can help identify any uneven or abnormal structural changes in the fetus, which are characteristic features to identify Down syndrome. The ultrasound is usually performed during the first trimester.
• Antenatal Profile Comprehensive - This includes a set of routine blood tests that measure various parameters and, when used along with ultrasound imaging, can help screen for fetal abnormalities.

2. Diagnostic Tests

If any abnormalities are found in the pregnancy screening tests, diagnostic tests are performed to confirm the diagnosis of Down syndrome.

• Chromosome Analysis, Chorionic Villus - In this test, cells are taken from the placenta and used to analyze the fetal chromosomes. The presence of an extra chromosome 21 confirms the diagnosis of Down syndrome.
• Amniocentesis - During the second trimester of pregnancy, the analysis of fluid obtained from the amniotic sac surrounding the baby can help identify the possibility of a child being born with Down syndrome.

3. Supportive Tests

There are numerous comorbidities that can affect a person with Down syndrome. A few tests are essential to help evaluate these comorbidities.

• Echocardiography - to detect congenital cardiac abnormalities, which are very common in babies with Down syndrome.
• Thyroid Profile Total - It is often observed that individuals with Down syndrome also suffer from hypothyroidism. Diagnosing and treating this condition is essential.
• Vitamin D (25-OH) - The musculoskeletal system of patients with Down syndrome is weak and poorly developed. They may also suffer from Vitamin D deficiency.
• USG Whole Abdomen - Some patients with Down syndrome suffer from gastrointestinal issues like intestinal obstruction, perforation, or GERD. If the patient exhibits any such symptoms, it is essential to evaluate the cause using ultrasound of the whole abdomen.
• Complete Blood Count (CBC) - In the early weeks of life, newborns with Down syndrome may have impaired blood counts. Individuals with Down syndrome are also more prone to develop leukemia, so routine CBC tests can help identify any blood-related abnormalities in time.

BOOK TESTS HERE

As such, there is no way to prevent Down syndrome. However, early conception before the age of 35 reduces the risk of a baby being born with this condition. Genetic counseling may help in cases where the risk of a baby being born with this syndrome is high.

Routine antenatal profile (pregnancy-related) screening tests help identify the condition as early as the first trimester of pregnancy. Awareness regarding antenatal tests can help parents make informed decisions about the pregnancy and its complications.

Currently, there are no approved medical therapies for the treatment of Down syndrome. Medical treatment is driven symptomatically based on the comorbidities affecting the individual. For example:

• Thyroid medications to control hypothyroidism
• Vitamin D supplements for vitamin D deficiency
• Analgesics to provide pain relief
• Corrective surgery for congenital heart defects and intestinal defects

1. Alternative therapies

These therapies form a crucial part of managing Down syndrome. As the condition is congenital and impairs the individual's intellectual and developmental abilities, it is essential that supportive care for the child begins as soon as possible. This will help the child lead a fairly normal, productive life.

2. Physiotherapy and occupational therapy

Physiotherapy and occupational therapy assist the child in achieving developmental milestones, such as walking, hand gripping, and balancing, through customized exercise programs. These programs also help care for the bones and joints, preventing deterioration of the musculoskeletal system.

3. Speech therapy

Speech therapy and voice modulation exercises are vital as they enable the child to communicate effectively. Learning to communicate well is a significant aspect of the social development of a child with Down syndrome.

4. Life skills training

A child with Down syndrome often requires specialized life skills training tailored to their level of functioning. Support groups and special schools are available to assist the child in learning essential life skills, such as self-care, grooming, primary education, and decision-making. This helps the child grow into a somewhat normally functioning adult who can lead a productive life.

Educating oneself regarding the symptoms and disease progression of Down syndrome is essential for parents or caregivers. A child with Down syndrome will require treatment through a multidisciplinary approach that enhances their physical and intellectual capabilities.

Children with Down syndrome often need special attention at school. There are special classes and programs available for children and adults with Down syndrome. Close monitoring for comorbidities, such as:

• Cardiac complications
• Vision abnormalities
• Gastrointestinal problems
• Bone and joint pains

These issues need to be addressed as they begin to affect the individual.

With appropriate treatment opportunities, patients with Down syndrome can lead relatively normal lives with improved life expectancy.

Down syndrome often presents with a host of other health conditions and, if left untreated, may pose a serious health risk. Certain complications may arise when Down syndrome is left untreated, such as:

• The inability of the child to function normally in the community
• Cardiac complications, a consequence of congenital heart defects, often present in a child with Down syndrome
• Weakened immune system, leading to a higher risk of serious infections
• Obesity due to lack of physical activity
• Sleep apnea, a breathing disorder that occurs while sleeping
• Skeletal malformations
• Poor vision and hearing
• Seizures

Infants born with Down syndrome are often subjected to social stigmas at a very early age. They may not be able to attend regular schooling or grow up like typical children. Parents or caregivers need to provide special care and attention as the child develops. Most children with Down syndrome can grow like their peers due to numerous advances in physiotherapy, occupational therapy, and other supportive treatments.

Consult India's best doctors online with a single click.

GET EXPERT HELP