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ERIC Number: EJ869384
Record Type: Journal
Publication Date: 2009
Pages: 10
Abstractor: As Provided
Reference Count: 116
ISSN: ISSN-1940-5510
Fragile X Syndrome--From Genes to Cognition
Schneider, A.; Hagerman, R. J.; Hessl, D.
Developmental Disabilities Research Reviews, v15 n4 p333-342 2009
Fragile X syndrome (FXS), a single gene disorder with an expanded CGG allele on the X chromosome, is the most common form of inherited cognitive impairment. The cognitive deficit ranges from mild learning disabilities to severe intellectual disability. The phenotype includes hyperactivity, short attention span, emotional problems including anxiety, social avoidance, poor eye contact, and hyperarousal to sensory stimuli. Imaging studies in FXS have clarified the impact of the "FMR1" mutation on brain development and function by documenting structural abnormalities, predominantly in the caudate nucleus and cerebellum, and functional deficits in the caudate, frontal-striatal circuits, and the limbic system. On the basis of current research results, a targeted treatment for FXS will be available in the near future. Currently, a number of psychopharmacological agents are helpful in treating many of the problems in FXS including hyperactivity, attention deficits, anxiety, episodic aggression, and hyperarousal. Although the targeted treatments aim at strengthening synaptic connections, it is essential that these treatments are combined with learning programs that address the cognitive deficits in FXS. (Contains 2 figures.)
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: N/A
Authoring Institution: N/A