Down Syndrome: Management and treatment

Handling children with Down Syndrome can be a Herculean task for parents who see it as a burden. Parents are oftentimes overwhelmed with feelings of loss and fear, as children suffering from the ailment don’t act like other normal kids. Experts advocate the importance of enrolling these children in early intervention services. Immediate past President, Resident Doctors’ Association at Neuro-psychiatric Hospital, Yaba, Dr. Raliat Akerele explained Down Syndrome in children, its challenges and how parents can handle it. GERALDINE AKUTU reports.

What is Down Syndrome and what causes it?
Down Syndrome is a genetic disorder caused by the presence of an extra chromosome in the body; Chromosome 21 to be exact. This extra chromosome 21 can occur in all cells, some cells or fused with another chromosome. This is an aberration, as we are meant to have 23 pairs of chromosomes making a total of 46.

Chromosomes are thread-like structures in our cells that carry genetic information. Why the ailment occurs is still unknown, but the risk increases with advancing maternal age.

There is a risk of one in 100 births in mothers aged 32 years and one in three births when the chromosomes are fused. A small percentage of it is also inherited.

How is it detected?
Diagnosis during pregnancy can be done by sampling the amniotic fluid after 15 weeks of pregnancy. In newborn infants, such physical characteristics as general floppiness, slanted eyes, flat nose and folding of the upper eyelid, which in the past earned them the term Mongoloids, can be noticed. Diagnosis is much easier in older children because more features can be seen. More than 100 signs are described in Down syndrome, but not all are found in one person.

What are the health conditions associated with Down Syndrome?
It has been the most discussed and investigated syndrome associated with intellectual disability. The mental development in children with Down Syndrome usually progresses normally from birth to six months, after which it starts to reduce. Only a minority has an IQ above 50. Other health conditions include heart disease, vision problems, hearing loss, infections, digestive problems, dental disease, digestive problems, issues with the organ that regulates energy and temperature (thyroid gland), epilepsy, mental health and behavioural problems.

How is it prevented and managed?
Management involves prevention and treatment and should be tailored to different settings e.g. home and school. There are different levels of prevention. Primary prevention involves actions taken to prevent development of the condition in the first place. Such involves education to increase general public’s awareness of the disorder, risks factors and knowledge of the complications to prevent them from happening. There are also family and genetic counselling, social service assistance to prevent medical and psychosocial complications.

Secondary and tertiary preventions are done when disorder has occurred. They involve treatment to shorten course of illness (secondary) and minimise consequences of disabilities (tertiary prevention). Treatment depends on the presentation. There should be an assessment of social, environmental, psychiatric and educational needs.

Early medical treatment of cardiac, digestive, visual and mental complications is advised. For educational needs, programme should include adaptive skills, social skills and vocation with particular emphasis on improving quality of life.

Talk therapy, such as behaviour therapy should be used to enhance social behaviour to minimise aggression and destructive behaviours.

Family therapy is used to educate the family about ways to increase self-esteem and competence, while maintaining realistic expectations for the child.

There is also social intervention to reduce social isolation and improve quality of social competence.

The Special Olympics provides a forum to develop physical fitness, social interactions and friendships. Support groups for the children and families are also highly recommended.

According to studies, children with Down Syndrome are cheerful, cooperative, sociable and conform to social conventions. These are strengths that can be harnessed to ensure a better-rounded adult.

Some famous actors, brilliant sports person and motivational speakers have Down Syndrome and have excelled beyond expectation. The lesson here is that, with just the right amount of love and care, we can mine gold from these individuals.