Have you seen a child who doesn’t act his age? He/she might act childish, have weird mannerisms like flapping hands or he might be drooling, constantly pulling his mum’s dress, keeping his head in a particular position. If you still haven’t made up an image in your mind then here is a clue. Rohit from the famous Bollywood movie “Koi mil gaya”.
In medical terms this disorder is called “intellectual disability” previously known as “mental retardation” These affected individuals have
1. Below-average intelligence
2. Difficulty in performing day to day activities.
Their life is riddled with difficulty in communicating their needs and interacting with other people. They do not possess the necessary life-skills that are required for living an independent life.
There are varying degrees of intellectual disabilities, and there are many causes of it. But the main aim of writing this article is a stigma that I have come across many times in my life. No, my child does not have an intellectual disability nor does anyone in my family. One need not have to suffer or face a stigma, to do something about it. It has been my patients who fail to get the medical help they deserve at the right time.
Most intellectual disabilities are caused by genetic diseases and hence do not have any treatment. Having stated that, my job doesn’t end there nor does it end for the parents of an affected child.
The age of diagnosis of these conditions is of utmost importance. Treatment in the form of therapy, counselling, programs to teach self-care and sessions to equip them with tools for becoming self-reliant is quintessential.
The unfortunate reality of my country is a lack of resources, knowledge and awareness about such diseases amongst both- the medical fraternity and the masses.
Who are these people, how do they end up like this? Why do you need to know about it? If you have someone in your family who is affected then is there a chance that your child might also turn out to be such?
I will try to answer most of these to the best of my ability by starting with the commonest causes of “mental retardation”/ “intellectual disability” (ID) in our country.
ID can occur due to anything that affects the normal development of the brain.
1. Genetic conditions like:
- downs syndrome
- Fragile-x syndrome
2. Problems during pregnancy:
- Alcohol consumption during pregnancy
- Infections like rubella during pregnancy
3. Problems at birth like:
- Hypoxia (not getting enough oxygen) at the time of labour and birth
4. Health problems like:
- Whooping cough
- Extreme malnutrition
- Poisoning with lead or mercury
Fragile X syndrome
Let’s talk about a genetic condition called fragile x syndrome. Have ever encountered a grown-up boy who doesn’t leave his mum’s side. He might have characteristic facial features like a long face and a broad forehead and he’d be talking in a particular pattern that might sound different. He could be doing hand gestures like flapping or bobbing his head.
Another reason to have knowledge about fragile x syndrome is the most commonly inherited, single-gene cause of a common learning disability called “Autism”.
What this means for you and me is, if you are aware of this condition beforehand, and you see signs of a learning disability in your child at a young age then you can get the right help for him. It can help your child achieve his milestones and change the prognosis considerably.
How to know if your child might have an intellectual disability due to fragile x syndrome?
- Trouble learning skills like sitting, crawling, or walking(1)
- Problems with language and speech
- Hand-flapping and not making eye contact
- Temper tantrums
- Poor impulse control
- Extreme sensitivity to light or sound
- Hyperactivity and trouble paying attention
- Aggressive and self-destructive behaviour in boys
Facial and body feature indicative of fragile x syndrome.
- A large head
- A long, narrow face
- Large ears
- A large forehead and chin
- Loose joints
- Flat feet
- Enlarged testicles (after puberty)
This condition can also cause health problems like:
- Hearing problems
- vision problems
- Heart problems
The constant reference to “he” and not “she is because disorders like autism, fragile x syndrome and intellectual disabilities are more common in males than females by a ratio of 4:1.
Symptoms are usually mild in girls. Most boys affected with fragile -x syndrome have learning disabilities and developmental retardation. Whereas girls usually show intellectual disability to a lesser extent. Girls have trouble getting pregnant and might end up with premature menopause due to a condition called “premature ovarian failure”.
Why do you need this information?
The diagnosis of fragile x has implications for other relatives. Some may be at risk of having affected children. If they end up being carriers, they are still at risk of being affected with various medical disorders like Parkinson’s like symptoms i.e. ataxia(tremors), premature ovarian sufficiency (early menopause and infertility), etc.
Men can be silent carriers of the affected gene. One can pass this gene onto their kids. So a prior knowledge about this disease in conjunction with good family history and genetic counselling can help you plan your pregnancy better.
How do I know my child has fragile x syndrome before he is born?
You(2) should consider prenatal testing if you know you’re a carrier of the fragile X gene or if there is a history of fragile X in your family.
Tests for fragile X in pregnancy include:
- Chorionic villus sampling (CVS) — this test is usually done between weeks 10 and 12 of the pregnancy. It checks cells from the placenta for the FMR1 gene.
- Amniocentesis — This test is usually done between weeks 15 and 18 of the pregnancy. It checks the amniotic fluid for the FMR1 gene.
The main aim of this article is to spread awareness about fragile x syndrome so children can receive the appropriate help with education, speech, language and behaviour.
The inspiration for this article is Mrs Shalini Kedia.
She is the chairperson of the Fragile X Society of India which serves as a support group for parents of children affected with fragile X syndrome. They have expanded their horizon to spread awareness on Fragile X related disorders amongst professionals and the common people.
She has teamed up with Indian academy of paediatricians and many other eminent doctors from fields of gynaecology, paediatrics, etc to provide expert guidance for kids and parents suffering from Fragile x.
I am proud and honoured to be associated with the Fragile X society of India that is doing exemplary work in raising awareness about this disease among the medical fraternity as well as the masses.
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