Fragile X Syndrome

Swati Kolpuru (Gadewar)
Fragile X Syndrome - Treatment
Presently no cure is available for Fragile X syndrome. However, a variety of interventions are available. But now with the Human Genome Project, it is not long that gene therapy or protein replacement therapy may become a reality. A team approach is always needed for the better care and it usually includes a special educational teacher, a speech and language pathologist, an occupational therapist, and a genetic counselor.

Having a child with a genetic disease has many social and psychological issues. Feelings of blame, guilt, embarrassment, and stigmatization are commonly experienced. The role of the genetic counselor is to help families adjust and cope with the stresses of having a child with Fragile X Syndrome. This can be accomplished by
- Educating them by presenting medical information about diagnosis and prognosis
- Reviewing the inheritance and recurrence risks since Fragile X syndrome is inherited.
- Discussing family planning options
- Help family make informed decisions regarding treatment, management, and testing by educating them and providing emotional support.
- DNA testing of the mother to find her degree of involvement with the Fragile X syndrome, particularly if she has learning or behavioral problems.
- Prenatal diagnosis in future pregnancies

Fragile X Syndrome Fragile X Syndrome 12/31/2013
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