Understanding Down Syndrome

Down syndrome, also known as trisomy 21, is a genetic disorder caused by abnormal cell division leading to an extra copy of chromosome 21.

It is not an inherited disorder and typically does not affect the parents.

Symptoms of Down Syndrome

It includes distinctive facial features, delayed growth, and intellectual disabilities. As individuals with Down syndrome grow, it affects the development of their brain and body, resulting in both mental and physical abnormalities.

Facial features of Down syndrome include a flat head, flattened nose, slanted eyes, squint eyes, and a protruding tongue. Physical features may consist of a short neck, wide space between the first and second toe, a single palmar crease, small hands and feet, low muscle tone, and flexible ligaments. Neurological features include speech and language deficits, mental retardation, delayed development, seizures, and a higher risk of Alzheimer's disease. Individuals with Down syndrome may also experience health issues such as congenital heart defects, obstructive sleep apnea, obesity, and hearing and vision deficits.

Diagnostic Criteria for Down Syndrome

They include antenatal screening tests such as maternal serum markers, fetal markers, chorionic villi sampling, amniocentesis, and ultrasound.

Management of Down Syndrome

While there is no standard treatment protocol for children with down syndrome, a multidisciplinary approach tailored to their mental and physical strengths and limitations is crucial. This may involve speech and language therapy, occupational therapy, physiotherapy, hearing and vision services, behavioral interventions, support for family members, encouraging independent functioning, family-centered interventions, and dietary support.

Physical therapy interventions could also be part of the treatment plan, including strength training, therapeutic horseback riding (hippotherapy), Roods facilitatory approach to improve tone, cardiovascular endurance training, treadmill training, neurodevelopmental therapy, balance training, sensory integration, and even virtual reality.

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