Last Sunday after service in Umuahia, a woman accosted me with her 5-month old baby, and blurted out, “Doc, please look at my baby. They said he has Down Syndrome”. “Who told you that”, I retorted. “Nde madu ie people “, she replied. “Why did they say that”, I remonstrated. “They said his head is too small”, she replied anxiously.
I took the baby from her, examined him, as she was keenly observing me. Yes the features of Down Syndrome were there, but I did not tell her that. I told her she would have to bring the baby to Gregory University Specialist Hospital Uturu for confirmation, and assured her that the baby will be okay.
I have, had several encounters with worried women, who had brought their small-for-date-babies to the hospital for management. I had written about Down Syndrome a zillion times since 2003 in Doctor Sun column, but the last Sunday encounter in my church with the worried mother, generated this write up.
Yes, the woman’s baby had features of Down Syndrome quite alright, but I was not too callous as to confirm it for her immediately.
What is Down Syndrome?
You know Down Syndrome was first described by a British Physician Prof John Langdon Down in 1866. Medical researchers have further broken down the features and types of Down Syndrome, which I shall not go into now, to spare my readers the annoying medical jargon.
What are the causes of Down Syndrome?
• Normally, human beings inherit 23 pairs of chromosomes from both parents for a total of 46.
• However, people with Down Syndrome, wind up with 47 chromosomes, because they get extra copy of chromosome 21.
• This happens when the 21st pair of chromosomes from either the mother (egg) or father(sperm) fail to separate, hence the name Trisomy 21.
What are the features of Down Syndrome?
1. All affected children look as though they belong to a single family.
2. The IQ ranges from 20 – 70. The average being 45.
3. They rarely walk before 3 years of age, and speech is delayed and simple.
4. Their mental development is rarely greater than 8 years of age, but they are adaptable and can be trained within the family unit.
5. Head – small and round. The occiput(back of the head), is flattened when the cerebellum is small.
6. Face – flat and slanted eyes – hence the old term “Mongolian idiot”.
• The nose is short due to underdeveloped nasal bones.
• Small white(Brushfield) spots are sometimes noted on the iris.
• The tongue often protrudes from the mouth and becomes furrowed as the child grows older(scrotal tongue).
• External ears are small and simple and often low set.
7. Neck – short and broad.
8. Hand – Short and broad with in-curved little finger due to small middle phallanx.
9. Foot – Wide space between big toe and 2nd toe often with big groove between them extending to the sole.
• Generalized hypotonia is present.
• Speech is limited to a few simple words or even sentences.
• The voice is raucous.
• The child is usually pleasant, friendly and is fond of music.
11. Associated defects
• Congenital leukaemia.
• Intestinal obstruction due to duodenal atresia.
• Atrial septal defect(premium type), aortic or pulmonary stenosis may occur.
Maternal age and risk factors in Down Syndrome.
• Mother’s age 35 : Risk is 1 in 385.
• Mother’s age 40 : Risk is 1 in 106.
• Mother’s age 45 : Risk is 1 in 10.
Take your baby, go through the numerated features 1 to 11, examine if the baby has up to 6 of the 11 features above, then consult your doctor.
I had also told the woman who consulted me at the church premises with her baby to buy the next Sunday Sun newspaper, since I would be discussing Down Syndrome at the prompting of some church members.
Treatment for Down Syndrome
• There is no cure for Down Syndrome. From infancy on, every person with the condition will have different physical, intellectual and emotional issues, that will need to be dealt with on an individual basis
As I write this the new Ministers have just been sworn in. I pray the Ministers of health Dr Osagie Ehanire and Adeleke Mamora, would as they promised during Senate screening develop a Marshall plan for Primary and Maternal health care, with a special bias for those with health challenges. Be medically guided.
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