TY - JOUR
T1 - Fragile X
T2 - A Family of Disorders
AU - Chonchaiya, Weerasak
AU - Schneider, Andrea
AU - Hagerman, Randi J
PY - 2009
Y1 - 2009
N2 - There is a broad spectrum of clinical involvement throughout the generations in families affected by the fragile X mutations, both the full mutation and the premutation. A careful family history, assessment, and genetic counseling should lead to better treatments in all individuals affected by the many manifestations of these mutations. Individuals with ID, autism, ASD, neurologic problems of tremor, ataxia, neuropathy, and cognitive decline in addition to those with early menopause, infertility, and POI should be tested for the fragile X mutation. New targeted treatments give hope of reversing the ID and behavioral problems in children and adults with FXS. This review focuses on the latest research in both FXS and in premutation involvement and their treatment.
AB - There is a broad spectrum of clinical involvement throughout the generations in families affected by the fragile X mutations, both the full mutation and the premutation. A careful family history, assessment, and genetic counseling should lead to better treatments in all individuals affected by the many manifestations of these mutations. Individuals with ID, autism, ASD, neurologic problems of tremor, ataxia, neuropathy, and cognitive decline in addition to those with early menopause, infertility, and POI should be tested for the fragile X mutation. New targeted treatments give hope of reversing the ID and behavioral problems in children and adults with FXS. This review focuses on the latest research in both FXS and in premutation involvement and their treatment.
UR - http://www.scopus.com/inward/record.url?scp=72149108442&partnerID=8YFLogxK
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U2 - 10.1016/j.yapd.2009.08.008
DO - 10.1016/j.yapd.2009.08.008
M3 - Article
C2 - 19968948
AN - SCOPUS:72149108442
VL - 56
SP - 165
EP - 186
JO - Advances in Pediatrics
JF - Advances in Pediatrics
SN - 0065-3101
IS - 1
ER -