What is Down Syndrome? How to Identify it in Children.

Each cell in the human body includes a nucleus that stores genetic material. These genes hold the codes that define our traits and are grouped together in structures known as chromosomes. Every nucleus holds 23 pairs of chromosomes, inherited by each parent in equal parts. Down Syndrome is a condition that is characterized by a partial extra or full copy of chromosome 21.

Down syndrome is one of the most common chromosomal condition seen in children. The three types of Down syndrome include trisomy 21 (most common), translocation and mosaicism.

Babies born with Down Syndrome might have multiple abnormalities related to their heart, lungs, eyes, ears or gastrointestinal system. It is important to identify children at birth because some of these “congenital” defects, if not dealt immediately, can be harmful for the baby if not identified early and managed by experienced health professionals.

How to Identify Down Syndrome in Children:

Physical Features

Most children with Down Syndrome have distinct physical features to a varying degree; flat facial features, short neck, bulging tongue, upward slanting eyes, small head and ears that are atypical, wide, short hands and fingers, and a weak muscle tone. The physical features typically appear at birth and sometimes later during early infancy.

Developmental Difficulties

The children with Down Syndrome can have a multitude of developmental problems. Owing to their poor muscle tone, they may have delays in learning how to sit, stand or walk. However, with appropriate professional help, eg physiotherapy, OT etc, they eventually reach these milestones.

Children may also have difficulty learning and socializing. However, given the right impetus and support, eg Child Psychology input, Learning support etc, they can lead to a better quality of life.

Neuro-Behavioural disorders are also seen in children with Down Syndrome which occur on a spectrum and could range from mild to moderate. They include; impulsive behaviour, short attention span, slower learning and poor judgement, and other issues like ADHD and Autism. Children with Down Syndrome may not be able to perform social activities as well as others, but that does not mean that they can’t be a part of a regular, functioning society. It is highly recommended that these children are assessed by Behavioural Analyist and if needed a Behavioural therapy programme is carried out.

Treatment

While down syndrome cannot be cured, a well-rounded, multi-disciplinary approach can help improve the child’s quality of life. Therapy will include several aspects such as Physiotherapy, Occupational therapy, Speech Therapy and Behavioral THERAPY., Overall, if the child is getting adequate support from both the therapist and their family, there is no reason why they can’t live a better life, attend mainstream schools and universities.

If your child has Down Syndrome, reach out to Neuropedia. Together, we can help them improve their quality of life.

For individual queries, please email Dr Aman PS Sohal, Co-Founder and Consultant Pediatric Neurologist at aman.sohal@neuropedia.ae