Down Syndrome Treatment in Delhi, India

Down syndrome, a genetic condition, results from an extra copy of all or part of chromosome 21. This additional genetic material can impact typical development, causing distinctive physical features and varying degrees of intellectual disability, ranging from mild to moderate. It is the most common genetic chromosomal condition, often associated with learning disabilities in children. Downs syndrome frequently has multisystem involvement, such as heart defects, thyroid disorders , hearing issues and gastrointestinal disorders.

While the presence of an extra copy of chromosome 21 defines Down syndrome, the specific mechanism by which this occurs determines the exact type. Hera are the three main types of Down syndrome and their causes.

Trisomy 21

• Cause: Occurs when an individual receives an extra copy of chromosome 21 in all of their cells.
• Mechanism: Nondisjunction, an error in cell division during meiosis, leads to this extra copy.
• Prevalence: Most common type, accounting for approximately 95% of cases.

Translocation Down syndrome

• Cause: An extra copy of chromosome 21 is attached to another chromosome.
• Mechanism: Breakage of a part of chromosome 21 and its attachment to another chromosome, either before or after conception.
• Prevalence: Less common type, accounting for around 3% of cases.

Mosaic Down syndrome

• Cause: Only some cells in the body have an extra copy of chromosome 21, while others do not.
• Mechanism: Error in cell division after conception results in this mosaic pattern.
• Prevalence: Least common type, affecting about 2% of cases.

Understanding the different types and causes of Down syndrome can be helpful for families and individuals affected by the condition. It provides valuable information for diagnosis, prognosis, and family planning.

Certain factors increase the likelihood of parents having a child with Down syndrome. These risk factors include:

• Advancing maternal age: The risk of having a child with Down syndrome is higher for women as they age. This is because older eggs are more prone to improper chromosome division. While the majority of children with Down syndrome are born to women under 35, the risk increases after the age of 35.
• Genetic translocation for down syndrome: Both men and women can carry the genetic translocation for Down syndrome, passing it on to their children.
• Previous child with down syndrome: Parents who have already had a child with Down syndrome, as well as those with a genetic translocation, face an increased risk of having another child with the condition. Genetic counselling can assist parents in evaluating the likelihood of a second child having Down syndrome.

Down syndrome can present unique health challenges that may become more prominent with age. These potential complications involve various aspects of well-being, including:

• Muscle system : weak muscle tone, causes delayed motor milestones, delayed walking.
• Cardiac: Congenital heart defects are present in roughly half of children with Down syndrome, often requiring early surgery.
• Digestive: Down syndrome may involve abnormalities in the intestines, oesophagus, trachea, and anus. There's an increased risk of digestive issues such as blockages, heartburn, and celiac disease.
• Immune: Individuals with Down syndrome have an increased susceptibility to autoimmune disorders, certain cancers, and infections like pneumonia.
• Respiratory: Sleep apnea is common due to airway obstruction.
• Obesity: There is a higher prevalence of obesity compared to the general population.
• Spinal: Atlantoaxial instability puts individuals at risk of spinal cord injury from neck overextension.
• Leukaemia: There is an increased risk of leukaemia in young children with Down syndrome.
• Dementia: Down syndrome is associated with an elevated risk of dementia, with symptoms often starting around age 50. There's also an increased risk of Alzheimer's disease.
• Thyroid disorders : Patients are at higher risk of hypothyroidism.
• Other: Down syndrome can lead to endocrine problems, dental issues, seizures, ear infections, and hearing and vision problems.

Routine medical care and addressing issues promptly are crucial for individuals with Down syndrome.

There is no way to prevent Down syndrome, once conceived. Hence individuals at higher risk or with a family history of the condition can benefit from consultations with a genetic counsellor before pregnancy. This specialist helps understand the individual's chances of having a child with Down syndrome and provides detailed information about available prenatal tests, explaining their benefits and drawbacks to facilitate informed decision-making.

While individual experiences vary, certain symptoms are commonly observed. Identifying these can aid in early detection and support for individuals with Down syndrome.

Physical symptoms

• Distinctive facial features, including almond-shaped eyes, a small nose, and a small mouth.
• Low muscle tone (hypotonia), leading to floppy limbs and delayed motor development.
• Short stature and a shorter neck.
• Small hands and feet.
• Single crease across the palm (palmar crease).
• Wide space between the big toe and the second toe.
• Heart defects, present in approximately half of children with Down syndrome.
• Gastrointestinal abnormalities, such as malformations in the intestines, oesophagus, trachea, and anus.
• Vision problems, including nearsightedness, farsightedness, and astigmatism.
• Hearing loss.
• Sleep apnea, caused by airway obstruction.

Cognitive symptoms

• Intellectual disability, ranging from mild to moderate.
• Delayed speech and language development.
• Learning disabilities.
• Short-term memory problems.
• Difficulty with problem-solving and abstract thinking.

Behavioural symptoms

• Increased risk of attention deficit hyperactivity disorder (ADHD).
• Difficulty with social interactions.
• Anxiety and depression.
• Autism spectrum disorder (ASD) occurs more frequently in individuals with Down syndrome.

There are several diagnostic tests for Down syndrome, depending on the stage of pregnancy or development:

Before birth

Prenatal screening tests: These non-invasive tests assess the risk of Down syndrome and other chromosomal abnormalities. Examples include:

• Nuchal translucency (NT) scan and blood tests: Combined, these screen for Down syndrome and other chromosomal conditions in the first trimester.
• Cell-free fetal DNA (cfDNA) screening: This non-invasive blood test analyses cell-free fetal DNA in the mother's blood for potential chromosomal abnormalities.

Prenatal diagnostic tests: These tests provide definitive confirmation of Down syndrome. They are typically recommended if screening tests suggest an increased risk or if there are other risk factors present. Examples include:

• Chorionic villus sampling (CVS): This test analyses a sample of chorionic villi done around 7-10 weeks, for downs anomaly.
• Ultrasound – Looks for nuchal thickness, ductus venosus flow,and other markers for downs syndrome, its done between 10-12 weeks.
• Dual tests – free beta HCG, PAPP-A- done for checking risk of downs syndrome. This is dione in blood, around 10-11 weeks of pregnancy.
• Amniocentesis: This test analyses a sample of amniotic fluid surrounding the fetus between 15-20 weeks.

After birth

Karyotyping: This test analyses chromosomes from a blood sample to identify any chromosomal abnormalities, including Down syndrome.

Down syndrome is a lifelong condition that has no cure. But, a multifaceted approach involving early intervention, ongoing support, and personalized care can help individuals lead a better life. Here are some of the treatment and management options for Down syndrome:

Essential Skill Building Therapies

• Physical therapy: Enhances muscle tone, motor skills, and overall physical abilities.
• Occupational therapy: Fosters independence through daily living skills like dressing and self-feeding.
• Speech and language therapy: Develops communication skills, empowering social interaction.

Educational Support

• Special education: Tailored plans address specific needs and unlock academic potential.
• Assistive technology: Tools like communication boards and adaptive software bridge learning gaps.
• Vocational training: Equips individuals with job skills and paves the way for employment opportunities.

Medical Care

• Regular checkups: Proactive monitoring identifies and manages potential health concerns.
• Vaccinations: Ensures protection from preventable diseases.
• Mental health support: Addresses emotional and social challenges, promoting well-being.

Social and Emotional Support

• Family support groups: Provide invaluable emotional support and practical advice.
• Community resources: Offer programs and services specifically designed for individuals with Down syndrome and their families.
• Individual and family therapy: Strengthens relationships and navigates emotional challenges.

What is the most common cardiac defect in Down syndrome?

The most common cardiac defect in Down syndrome is atrioventricular septal defect (AVSD), accounting for a significant proportion of heart issues associated with the condition.

Is Down syndrome a genetic disorder?

Yes, Down syndrome is a genetic disorder caused by the presence of an extra full or partial copy of chromosome 21. This extra genetic material alters development, leading to characteristic features and delays.

What is the best treatment for Down syndrome?

There is no cure for Down syndrome, but early intervention and ongoing support can significantly improve individuals' lives. Treatment focuses on managing symptoms, addressing developmental delays, and optimizing health and well-being

There's no single "best" treatment for Down syndrome, as it varies based on individual needs and challenges. A multidisciplinary approach involving physical, occupational, speech, and language therapy, along with educational support, medical care, and emotional support, is crucial.

Can Down syndrome be treated with surgery?

While surgery does not treat the underlying genetic cause, some congenital heart defects, Gastrointestinal defects associated with Down syndrome can be repaired with surgery, improving cardiovascular function and overall health.

How is Down syndrome diagnosed after birth?

After birth, Down syndrome is diagnosed through a physical examination and a chromosomal test called karyotyping, which analyses the baby's chromosomes.

Can Down syndrome be treated during pregnancy?

There is no specific treatment for Down syndrome during pregnancy. However, prenatal screening and diagnosis can provide families with information and support options.

What is the life expectancy for people with Down syndrome?

Life expectancy for individuals with Down syndrome has significantly improved over the years, currently exceeding 60 years on average. This is due to better medical care and support systems.

What are the congenital defects of Down syndrome?

Besides heart defects, other congenital malformations associated with Down syndrome can involve the gastrointestinal tract, hearing issues, vision problems, and spinal abnormalities are also potential concerns.

What role does physiotherapy play in the care of individuals with Down syndrome?

Physiotherapy for individuals with Down syndrome focuses on enhancing motor skills, muscle strength, balance, and coordination. It can also address specific physical challenges associated with the condition.

At what age should physiotherapy be initiated for a child with Down syndrome?

Physiotherapy (occupational therapy) can begin early in a child's life, often shortly after birth, to support developmental milestones. Early intervention is crucial for optimal outcomes.

How does Down syndrome impact speech and language development?

Down syndrome can affect speech and language development due to physical and cognitive factors. Speech therapy aims to address these challenges and improve communication skills.

At what age should speech therapy be initiated for a child with Down syndrome?

Early intervention is crucial. Speech therapy can begin shortly after birth and continue throughout childhood to support language acquisition and communication development.