Down With Disorder

The trend of late marriages has upset the genetic make-up of Kashmiris as prevalence of Down’s syndrome among new born has risen. Bilal Handoo reports the genetic defect, which renders the affected individuals feeble-minded and physically weak throughout life

Down's-syndromeIn March 2004, Mir family in downtown Srinagar was blessed with a baby boy. But the arrival of new life didn’t set off celebrations. Mere remorse reflected on faces. Medicos had informed the family that the infant has been born with a genetic defect – identified as, Down’s syndrome (DS). The defect meant that the baby would grow up weak and feeble-minded. And the very revelation damped the delight of the family.

A decade later, Shafat—the DS kid, looks imbecile. He wears confused looks on his face. Over the years, he has grown short and bulky. He talks swiftly, which often makes him sound incomprehensible. He keeps laughing with himself most of the times. And it is still puzzling for his family, as what makes him happy or sad. He may leave one red-faced when irked in a bad mood. And in crowd, he remains absorbed in his own world!

Medicos identify DS as a genetic disorder caused by the presence of all or part of a third copy of chromosome 21 or a genetic thread inside living cells. It is typically associated with physical growth delays, a particular set of facial characteristics and a severe degree of intellectual disability.

DS is the most common chromosome abnormality in humans. About 1.4 per 1000 babies are born (annually) with DS in the world at the moment.

Individuals with DS may have abnormally small chin, oblique eye fissures on the inner corner of the eyes, poor muscle tone, a flat nasal bridge, and a protruding tongue.

Face is flat and broad with a short neck, says Dr Ayub Bhat, a physician specialist from Srinagar. “Growth parameters such as height, weight, and head circumference are smaller in children with DS than with typical individuals of the same age.” Adults with DS tend to have short stature and bowed legs—the average height for men is 154 cm and for women is 144 cm.

Medicos say the bodily process can contribute to a shorter life expectancy in such people.

But Dr Bhat says following improvements to medical care, the life expectancy among persons with DS has increased from 12 to 60 years. “But most people with DS who live into their 40s and 50s begin to suffer from dementia like Alzheimer’s disease and epilepsy.”

When Shafat turned five, he was enrolled at a local school. Sitting among his mates, most of the lessons would sound Greek and Latin to him. On the top of it, he continuously wore a confused looks on his face inside a classroom. By the time he turned eight, he showed no learning progress. And finally his parents lost all hopes, and now he is out of the school.

“Look, we need to understand that the average full-scale IQ [Intelligence Quotient] of DS affected individuals is around 50 [70 and below is defined as the cut-off for intellectual disability], whereas normal individuals have an average IQ of 100,” says Dr Towfeeq Rizvi, a Psychology (Asst.) Professor at Kashmir University. “So, it isn’t right to make these kids to sit with normal mates in regular classes. They surely need separate classrooms and different teaching methods. But then, we don’t seem to have many such classes around.”

Like Shafat, those affected with DS differ considerably in their language and communication skills. Dr Rizvi says individualized speech therapy can target specific speech errors, increase speech intelligibility, and in some cases encourage advanced language and literacy. “Augmentative and alternative communication (AAC) methods, such as pointing, body language, objects, or graphics are often used to aid communication,” she continues. “Relatively little research has focused on the effectiveness of communications intervention strategies.”

She cautions such kids may not age emotionally, socially and intellectually at the same rates as children without DS. So over the time, the intellectual and emotional gap between children with and without DS widens.

“But kids with DS may benefit from normal classes provided that some adjustments are made to the curriculum,” believes Dr Rizvi.

And apart from poor learning skills, commonly individuals with DS suffer from enlarged appearance.

Gowher Ashraf, 17, from old Srinagar’s Gojwara area wakes up daily with puffy eyes and bloated face. Besides, a bulged belly of this teen with DS makes him look like a ballooned person. “It is due to low thyroid amount in such individuals,” says Dr Munir Lone, an endocrinologist from Srinagar. “The low amount is from their birth or due to attack on the thyroid by the immune system in such individuals.”

Apart from bulged appearance, males with DS usually do not father children! And females with DS have lower rates of fertility. Such females often have difficulties with miscarriages, premature births and labour. “The infertility in men is thought to be due to problems with sperm development; however, it may also be related to not being sexually active,” says Dr Lone.

More invasive diagnostic tests such as amniocentesis and chorionic villus sampling may be performed to predict a high risk of the foetus with DS. Medicos believe these tests have a much lower false positive rate than the screening tests, therefore, they are more reliable in establishing the diagnosis of DS.

“However, they are invasive, and carry a slightly increased risk of miscarriage,” Dr Lone cautions. “But usually, pregnancies with the diagnosis are often terminated.”

Down-SydromePresently, about 92% of pregnancies in the United Kingdom and Europe with a diagnosis of DS are terminated. In the United States termination rates are around 67%. “However, this varies significantly depending upon the population looked at,” says Dr Lone.

In the spring of 2013, a research report “Detection of Chromosomal Abnormalities in an Ethnic Population of Kashmir Valley” prepared by the Department of Immunology and Molecular Medicine at SKIMS revealed that due to late marriages, DS seems to be occurring at a higher frequency in the valley.

The research carried out by Dr Farhat R Shawl between 2004 and 2011 had evaluated 773 suspected cases for different genetic abnormalities from different regions of Kashmir.

“Out of 773 patients, abnormal chromosomes were found in 127 (17 percent) of the cases,” the report said. “And out of 100 suspected cases, DS was found in 82 (28 percent) cases.”

Among DS, the report noted 39 cases out of 82 (47.5 percent) females and 43 of 82 (52.5 percent) males, the report noted.

Dr Farhat said that DS cases belonged to the mothers with middle age of the conception (maternal age >35) with occurrence in 61 of 82 (around 75 percent).

Maternal age influences the chances of conceiving a baby with DS. Available medical research on DS reveals that at maternal age 20 to 24, the probability is one in 1562. At age 35 to 39, the probability is one in 214, and above age 45 the probability is one in 19. Recent data also suggest that paternal age, especially beyond 42, also increases the risk of DS manifesting.

Medicos believe management strategies like early childhood intervention, screening for common problems, medical treatment, a conducive family environment and vocational training can improve the overall development of children with DS.

Many alternative medical techniques are used in DS, however, they are poorly supported by evidence. This includes: dietary changes, message, animal therapy, chiropractics and naturopathy among others.

By the 20th century, DS had become the most recognizable form of mental disability all over the world. Its presence in all races, the association with older maternal age, and the rarity of recurrence had also been noticed.

Two years after Shafat was born, the world celebrated the first World Down syndrome day on March 21, 2006. His birth, however, is still considered by many to be an “utter tragedy”. But he continues to live on by laughing his heart out. And thereby continues to light up the moments of people around him.

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