LETTER X- X SYNDROME

X SYNDROME

It is an X-linked dominant pattern genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. It is also known as fragile X syndrome as mutations in the FMR1 gene is the main cause behind it. Males are predisposed to this disorder than females.

What are the problems faced by patients?

Most commonly delayed development is present. Children are also prone to seizures in this condition. Some patients have attention deficit disorder (ADD) while some have clinical features of Autism spectrum disorder (ASD). There is trouble with talking with others and expressing oneself.

What are characteristics of this condition?

Certain physical appearances are associated with this syndrome. They are as follows:

*Long and narrow face

*Unusual flexible fingers

*Flat feet

*Prominent jaw and forehead

*Large ears

*Specific to male- enlarged testicles after puberty.

How does Rehabilitation help?

The delay in the child’s development can be managed with physiotherapy. Rehabilitation helps the child perform activities of daily living. Basic mobility like rolling; crawling and walking are taught progressively. Transfer from one position to another like lying down to sitting etc. requires good tone, the strength of muscles and proper co-ordination. Rehabilitation includes examining all the impairments and finding the strengths and weakness of the patient and using that to improve functional ability. Exercises are planned to improve not only the muscular ability but overall fitness as limited mobility can be detrimental to health. If needed walking aids or orthosis are included in gait training and prescribed for long term use.

Hand rehabilitation is also incorporated where the fine movement of fingers and thumb are taught to carry out all functions with ease. Necessary modifications are also recommended. Vocational training is also provided to help develop their skills for the future.

This condition affects the patients emotionally also as they tend to have low self-confidence and often try to avoid socializing out of fear and lack of ability to do tasks normally. Thorough counseling of patients and family is an essential part of rehabilitation as it is not a temporary disorder but something they have to live with every day.

Remember expert physiotherapists are trained to treat delayed development and work hand in hand with patient and family for a good quality of life.If you have any doubts about your child’s developmental progress please do not hesitate to consult the experts as timely intervention is the key to handle this condition. All dimensions including personal, environmental and social are thoroughly examined and modifications necessary to reduce the stress and bring positive changes in mindset are  planned and monitored to bring a smile on those precious faces.