How is Fragile X Syndrome Diagnosed and Treated?

Dr. Simi Paknikar
Medically Reviewed by The Medindia Medical Review Team  on Dec 11, 2013
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How is Fragile X Syndrome Diagnosed and Treated?

The defective gene in fragile X syndrome can be detected via genetic testing. Treatment of fragile X syndrome is symptomatic and includes special education, speech and occupational therapy, behavior modification and sensory integration therapies.

Diagnosis of Fragile X Syndrome

Fragile X syndrome is diagnosed based on patient history, family history, physical examination, specific tests and genetic testing.

Symptoms of fragile X syndrome resemble a number of other conditions like autism, attention deficit-hyperactivity disorder (ADHD), Asperser syndrome, Prader-Willi syndrome, etc. Hence, it is necessary to differentiate this condition from other similar ones.

Molecular genetic techniques, the southern blot technique and polymerase chain reaction (PCR) help to detect FMR1 gene and diagnose the condition.

Fragile X Syndrome Genetic Techniques

Treatment of Fragile X Syndrome

Treatment for fragile X syndrome is directed towards the symptoms of the patient. There is no specific cure for the condition, though a number of treatments are under investigation. Treatment could include special education, and behavior modification, speech and occupational therapies. Genetic counseling is recommended for the affected persons and their families.

Fragile X Syndrome Genetic Counseling

References:

  1. Fragile X Syndrome - (http://emedicine.medscape.com/article/943776-overview)
  2. The Tarsal Tunnel Syndrome in Hypothyroidism - (http://jnnp.bmj.com/content/46/5/440.full.pdf)

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