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How is Fragile X Syndrome Diagnosed and Treated?

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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.

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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.

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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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