Let us talk about Down syndrome

Compliments doctor at this critical time of Covid-19. We are seeing and reading your contribution at national level on this matter. Saturday 21st March was Down Syndrome Day. While we are not losing sight of the Covid 19 calamity in our nation, can you dedicate a space to discuss Down syndrome.

Thanks, Catherine, for your kind words as we are all committed to the Covid-19 response. It is indeed team work. You are right, Saturday 21st March was marked as Down syndrome day.

Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome.

Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays. It’s the most common genetic chromosomal disorder and cause of learning disabilities in children.

• head

• tongue

• Upward slanting eye lids (palpebral fissures)

• Unusually shaped or small ears and poor muscle tone

• Broad, short hands with a single crease in the palm

• Relatively short fingers and small hands and feet

• Excessive short height

• Tiny white spots on the colored part (iris) of the eye called Brushfield’s spots

• Infants with Down syndrome may be average size, but typically they grow slowly and remain shorter than other children the same age.

• Most children with Down syndrome have mild to moderate cognitive impairment. Language is delayed, and both short and longterm memory is affected.

• A woman’s chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. A woman’s risk of conceiving a child with Down syndrome increases after 35 years of age.

• Being carriers of the genetic translocation for Down syndrome. Both men and women can pass the genetic translocation for Down syndrome onto their children.

• Having had one child with Down syndrome.

What are the complications?

• Heart defects. About half the children with Down syndrome are born with some type of congenital heart defect.

• Gastrointestinal (GI) defects occur in some children with Down syndrome and may include abnormalities of the intestines, oesophagus, trachea and anus.

• Immune disorders. Because of abnormalities in their immune systems, people with Down syndrome are at increased risk of developing autoimmune disorders.

• Obesity.

• Spinal problems. Some people with Down syndrome may have a misalignment of the top two vertebrae in the neck (atlantoaxial instability). This condition puts them at risk of serious injury to the spinal cord from overextension of the neck. • Leukemia.

• Dementia. People with Down syndrome have a greatly increased risk of dementia; signs and symptoms may begin around age 50. Some preventive measures?

There’s no way to prevent Down syndrome. If you’re at high risk of having a child with Down syndrome or you already have one child with Down syndrome, you may want to consult a genetic counselor before becoming pregnant.

• Screening tests can indicate the likelihood or chances that a mother is carrying a baby with Down syndrome.

• Diagnostic tests can identify or diagnose whether your baby has Down syndrome.

Early intervention for infants and children with Down syndrome can make a major difference in improving their quality of life. Because each child with Down syndrome is unique, treatment will depend on individual needs. Also, different stages of life may require different services. If your child has Down syndrome, you’ll likely rely on a team of specialists that can provide medical care and help him or her develop skills as fully as possible.

• Ask your health care provider about early intervention programmes in your area.

• Learn about educational options for school.

• Seek out other families who are dealing with the same issues.

• Participate in social and leisure activities.