Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology

Autor/inn/en	Correia, F.; Café, C.; Almeida, J.; Mouga, S.; Oliveira, G.
Titel	Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology
Quelle	In: Journal of Autism and Developmental Disorders, 45 (2015) 3, S.888-892 (5 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0162-3257
DOI	10.1007/s10803-014-2185-8
Schlagwörter	Pervasive Developmental Disorders; Autism; Etiology; Behavior Problems; Intelligence Quotient; Child Development; Interpersonal Relationship; Interpersonal Communication; Genetic Disorders; Clinical Psychology + Suchen Sie Ihr Suchwort? Autismus; Ätiologie; Intelligenzquotient; Kindesentwicklung; Interpersonal relation; Interpersonal relations; Interpersonelle Beziehung; Zwischenmenschliche Beziehung; Interpersonale Kommunikation; Klinische Psychologie
Abstract	Autism spectrum disorder (ASD) is characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. Fragile X E is associated with X-linked non-specific mild intellectual disability (ID) and with behavioral problems. Most of the known genetic causes of ASD are also causes of ID, implying that these two identities share common genetic bases. We present a child with an ASD with a normal range of intelligence quotient, that later evolved to compulsive behavior. FRAXE locus analysis by polymerase chain reaction revealed a complete mutation of the "FMR 2" gene. This report stresses the importance of clinicians being aware of the association between a full mutation of "FMR2" and ASD associated with compulsive behavior despite normal intellectual level. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2020/1/01