Having a child with special needs or Fragile X syndrome is overwhelming in itself and dealing with the social taboos and ignorance surrounding disability makes it worse. Unconditional love, acceptance and the right direction can make a world of a difference, finds out Vibha Singh
Fragile X syndrome (FXS) is slowly becoming the most common cause of inherited mental impairment in children in India. The issue of concern is that in developed countries such as the US, children between 36 and 42 months of age are detected with FXS whereas, it is diagnosed at 6 to 8 years of age in India. This leads to a huge gap in their treatment cycle. Approximately 1 in 3,000 to 4,000 individuals has FXS. Usually, males are more severely affected by this disorder than females and generally with greater severity. Life expectancy is not affected as there are usually no life-threatening health concerns associated with the condition.
What are the symptoms?
This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities which are sometimes referred to as mental retardation. It is the most common known cause of autism or ‘autistic-like’ behaviours. Symptoms also can include characteristic physical and behavioural features and delays in speech and language development. The child suffers from attention problems, hand flapping, delayed development, long, narrow face, delayed speech, prominent ears and forehead, poor eye contact and large testicles.
What are the preventive steps?
The problem can be determined in the womb only. But the test is strangely not prescribed by gynaecologists, even to those who have a history of mental illness in the family. Even if the syndrome is detected soon after birth, appropriate steps can be taken to rear the child. Individuals with Intellectual disability, autism, infertility can get the Functional Magnetic Resonance Imaging (FMRI) testing done to rule it out before planning a family and passing it on further. Also Fragile X can be determined with a blood test which is usually supported with clinical symptoms to arrive at an accurate diagnosis. Some of the test can be done at Jaslok Hospital and National Institute for Research in Reproductive Health at Parel.
Dr Flora Tassone, molecular biologist specialising in population screening and a MIND Institute investigator at the University of California, Davis School of Medicine says, “The frequency of the permutation carrier state has not been estimated in India. Studies worldwide show a wide range of estimates depending on the population studied. The average over most studies is about 1/300 females and 1/850 males who carry a permutation. Thus, studies in India would be important to determine the best estimates. Assuming the prevalence is about the same, pre-marital screening will provide the most reproductive options to the couple.”
Adding to her statement Dr Stephanie Sherman, professor in department of Human Genetics at Emory University in Atlanta, says, “However, given the social implications of carrying a permutation, perhaps screening woman who are pregnant might be a better alternative. In that scenario, if a woman is found to screen position, prenatal diagnosis could be considered.”
What should be done?
There is ignorance on Fragile X related disorders world-wide. The situation in India is more precipitated because of the large numbers in population and the social stigma that encompasses this condition. Randi J Hagerman, medical director, UC Davis MIND Institute, distinguished professor, Endowed Chair in Fragile X Research, Department of Paediatrics, UC Davis School of Medicine, informs, “Knowing about the diagnosis helps in treatment of children and plan a family so one can have normal children. There are many children and adults with FXS in India but the prevalence is not known exactly. In India screening for the permutation is usually not done because of the social implications regarding arranged marriages etc. There is benefit for behavioural interventions with a psychologist or therapist and many medications that can help each of the symptoms.”
Also there are families which are not financially sound and therefore find it difficult to go ahead with treatment. The experts are of the opinion that level of support available needs to be spruced up. Dr Samir Dalwai, consultant, New Horizons Child Development Centre at Nanavati hospital said, “Currently, we have some services which are scattered and therapist based. We need more multi-
disciplinary centres where the intervention is child centric. Intervention has to be customised to each child’s needs. No two children have the same exact same concerns. Documentation and records have to be encouraged. Since this is a rare disorder, awareness is being generated slowly and more by parents of children who have become advocates for this cause.”
Some organizations which are working for the cause include the Fragile X Society of India, Indian Academy of Paediatrics and New Horizons Foundation. Shalini N. Kedia, chairperson and founder of Fragile X society of India says, “Counselling of the families is the most important factor in tackling the problem. We conduct seminars, workshops, conferences to empower those who need the information. Also we have initiated a programme called ‘buddeez’ where we help them make friends with trained individuals and which has given good results.”