title: Cognitive, behavioral, and neuroanatomical assessment of two unrelated male children expressing FRAXE.
abstract: Standardized cognitive, behavioral, and neuroanatomical data are presented on 2 unrelated boys with the FRAXE (FMR2) GCC expansion mutation. In the context of normal IQ, both boys had a history of developmental delay, including significant problems with communication, attention, and overactivity. Additionally, one child was diagnosed with autistic disorder. Data from these 2 cases are compared to analogous information from previous reports about individuals with the FRAXE or FRAXA (FMR1) mutation. These comparisons support the idea that FRAXE is associated with nonspecific developmental delay and possibly high-functioning autism.
authors.affiliation: Behavioral Neurogenetics and Neuroimaging Research Center, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA.
authors.forename: M T
authors.initials: MT
authors.lastname: Abrams
authors.forename: K F
authors.initials: KF
authors.lastname: Doheny
authors.forename: M M
authors.initials: MM
authors.lastname: Mazzocco
authors.forename: S J
authors.initials: SJ
authors.lastname: Knight
authors.forename: T L
authors.initials: TL
authors.lastname: Baumgardner
authors.forename: L S
authors.initials: LS
authors.lastname: Freund
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
authors.forename: A L
authors.initials: AL
authors.lastname: Reiss
mesh_terms: D015139:Blotting, Southern; D001921:Brain / Q000473:pathology; D002652:Child Behavior; D002675:Child, Preschool; D003071:Cognition; D018899:CpG Islands; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics* / Q000473:pathology / Q000523:psychology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics; D009687:Nuclear Proteins; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins; D015534:Trans-Activators
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D011506:Proteins; D016601:RNA-Binding Proteins; D015534:Trans-Activators; C099930:AFF2 protein, human; C497683:FMR1 protein, human