Fragile X Syndrome--From Genes to Cognition

Autor/inn/en	Schneider, A.; Hagerman, R. J.; Hessl, D.
Titel	Fragile X Syndrome--From Genes to Cognition
Quelle	In: Developmental Disabilities Research Reviews, 15 (2009) 4, S.333-342 (10 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	1940-5510
Schlagwörter	Genetic Disorders; Mental Retardation; Learning Disabilities; Attention Deficit Hyperactivity Disorder; Pervasive Developmental Disorders; Cognitive Processes; Language Impairments; Brain; Neurological Organization; Drug Therapy; Intervention + Suchen Sie Ihr Suchwort? Geistige Behinderung; Learning handicap; Lernbehinderung; Cognitive process; Kognitiver Prozess; Speech disorder; Speech disorders; Speech disabilities; Speech disability; Speech handicap; Speech handicaps; Speech impairment; Speech impairments; Language handicaps; Sprachbehinderung; Gehirn
Abstract	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.) (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10