Genetic Counseling for Families of Patients With Fragile X Syndrome—Reply
- Paul J. Hagerman, MD, PhD
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pjhagerman@ucdavis.edu
Department of Pediatrics
University of California, Davis Medical Center
Sacramento
- Randi J. Hagerman, MD;
- Louise W. Gane, MS
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MIND Institute
Sacramento, Calif
Since this article does not have an abstract, we have provided the first 150 words of the full text.
In Reply: We agree with Ms Barrett and colleagues that genetic counseling should be provided prior to testing for FMR1 gene status among older adults with tremor and/or ataxia. FXTAS is one of several forms of clinical involvement among carriers of premutation alleles.1 Children with the premutation can experience significant emotional and attentional problems, developmental delays, and autism; additionally, approximately 20% of female carriers have premature ovarian failure.1 We agree that genetic counseling is therefore essential for the immediate and extended family and should review in depth the inheritance pattern and related implications.2
When a child is identified as having fragile X syndrome, we recommend that all siblings and other family members at risk of carrying premutation or full-mutation alleles be tested for FMR1 allele status.2-3 Early emotional, behavioral, or cognitive interventions can be of benefit to young carriers4 of either the premutation …
