What is Fragile X Syndrome?
Fragile X syndrome is an inherited condition which causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females, with the syndrome occurring in 1 in every 4000 males compared to 1 in every 8000 females.
Fragile X syndrome (FXS) is the most common cause of sex-linked, general learning disability. It is what is known as a repeat expansion disorder.
In DNA coding it is common to see repeated sequences of the nucleotides that make up the genetic strand. In Fragile X syndrome there is an expansion of the number of repeat sequences in the fragile X mental retardation (FMR1) gene. The nucleotides involved are cytosine (C) and guanine (G) and the repeated sequence is CGG.
In the most common form of the condition, the CGG sequence is repeated more than 200 times. The metabolic result of this is to block production of a substance called fragile X mental retardation protein (FMRP)
Symptoms of Fragile X Syndrome
Typical symptoms of Fragile X syndrome include learning difficulties (IQ of 20-70), delayed milestones, high forehead, large testicles, facial asymmetry, large jaw, long ears and short temper.
Other symptoms may include attention deficit, repetitive actions, clumsiness, avoidance of gaze, obsessiveness, anxiety and sleep disturbance.
Specific speech disorders may include echolalia and the inability to complete a sentence due to repetition of words at the end of a phrase.
The diagnosis is usually made before the child is one year old, but can be delayed if the symptoms are subtle.
How to Manage Fragile X Syndrome
The current management of Fragile X syndrome will most likely involve professional and attentive care, including special needs education, behavioural therapy and speech therapy
There is currently research in focusing on gene therapy, protein replacement, nutritional intervention, regulation of neurotransmission and transcriptional regulation. Various antipsychotics, inhibitors and anticonvulsants have all been found to be helpful in treating various aspects of abnormal behaviour found in the patients.
It is also important to mention that the genetic counselling and support of the parents and other family members should not be forgotten. Sufficient counselling and support should also be provided to all of those who are affected by the syndrome and not just the patients themselves.
Here at Stepping Out, we have several years of experience in dealing with cases involving Fragile X syndrome, and our specialist carers are expertly trained to deal with all of the needs of those affected by it.
We provide several comprehensive, semi-independent living services throughout North London & Hertfordshire. Our projects are located close to transport links and local amenities, and are staffed up to 24 hours a day offering a high level, structured and supervised group living arrangement that will meet all of your expectations.
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