Down Syndrome Management

By Dr Ananya Mandal, MD

Down syndrome is incurable and efforts to manage the condition are focused on early childhood intervention, education and proper support and care. Some individuals with Down syndrome may only experience mild complications associated with the condition while others may be affected by more severe problems such as congenital heart defect or a “hole in the heart.” Some of the aspects involved in caring for children with Down syndrome are described below.

Detecting problems at birth

Various health organizations have advised the systematic screening for certain diseases in babies born with Down syndrome. Some of the diseases infants may be affected by include thyroid disease, Hirschsprung’s disease, cataracts, leukaemia and heart defects. Other problems include hearing loss, obstructive sleep apnea, anemia and intestinal blockage.

Children born with Down syndrome should undergo an echocardiogram, as around half of those with the condition have a heart defect. To detect intestinal abnormalities, an abdominal ultrasound is recommended and hearing defects are checked for using brainstem auditory evoked responses (BAERS). A complete blood count is obtained in order to check for leukemia and the thyroid gland is also tested.

Correcting health conditions

Children with a heart defect may require surgical repair when they are as young as 3 years of age. Among those with hearing loss, hearing aids and speech therapy may help children with learning language. Sign language is another alternative. Any behavioural illnesses are usually handled with the help of talking therapy and/or drugs.

Managing delay in cognitive development

Down syndrome is the most common cause of learning disability in children and most have mild to moderate mental intellectual disability, with IQs ranging from 70 to 35. Some individuals have an even lower IQ (of 20 to 35) and experience severe difficulties. However, early intervention programs can help infants to improve their cognitive abilities and develop to their full potential. Examples of services that can be offered through early intervention programs include speech therapy, language therapy and occupational therapy.

Some individuals may opt for cosmetic or plastic surgery to alter some of their facial features. However, this approach is considered controversial and the National Down Syndrome Society encourages people to focus on mutual respect and acceptance rather than appearance.

The care team involved in the management of Down syndrome may include a number of individuals from various disciplines such as a paediatrician or child specialist, a physiotherapist, a speech and language therapist, an occupational therapist, an otolaryngorhinologist or ENT specialist, an ophthalmologist, a heart specialist and a gastroenterologist.

Sources

  1. http://www.nhs.uk/conditions/Downs-syndrome/Pages/Introduction.aspx
  2. http://www.kcdsg.org/files/content/About%20Down%20Syndrome.pdf
  3. http://www.ndss.org/PageFiles/2594/Aging%20and%20Down%20Syndrome%20A%20Health%20and%20Well-Being%20Guidebook.pdf
  4. http://www.cdph.ca.gov/programs/CBDMP/Documents/MO-CBDMP-DownSyndrome.pdf
  5. http://www.nbdpn.org/docs/DS_Eng.pdf
  6. http://www.dsmig.org.uk/pdf/downs3.pdf

Further Reading

Last Updated: Apr 24, 2014

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