Two boys with 47, XXY and autism

被引：15
作者：
Merhar, S. L.
Manning-Courtney, P.
机构：
[1] Univ Penn, Med Ctr, Philadelphia, PA 19104 USA
[2] Childrens Hosp, Med Ctr, Div Dev Disabil, Cincinnati, OH 45229 USA
来源：
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS | 2007年 / 37卷 / 05期
关键词：
autistic spectrum disorders; autism; epilepsy; eeg; Klinefelter syndrome;
D O I：
10.1007/s10803-006-0211-1
中图分类号：
B844 [发展心理学（人类心理学）];
学科分类号：
040202 ;
摘要：
Two children with autism and Klinefelter syndrome (KS) (47, XXY) are presented. Both qualify for the diagnosis of autism based on DSM-IV with severely delayed and disordered language, difficulties with social interaction, and a restricted range of interests and activities. Both also have abnormal EEGs, and one patient has had what appear to be clinical seizures. Trials of antiepileptic medications have not been beneficial in either patient. We report the clinical and EEG findings of each patient, and discuss the implications of this combination of disorders.
引用
收藏
页码：840 / 846
页数：7
相关论文
共 50 条
[1]   A genomewide screen for autism-spectrum disorders:: Evidence for a major susceptibility locus on chromosome 3q25-27 [J].
Auranen, M ;
Vanhala, R ;
Varilo, T ;
Ayers, K ;
Kempas, E ;
Ylisaukko-oja, T ;
Sinsheimer, JS ;
Peltonen, L ;
Järvelä, I .
AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) :777-790
[2]  
Ballaban-Gil K, 2000, MENT RETARD DEV D R, V6, P300, DOI 10.1002/1098-2779(2000)6:4<300::AID-MRDD9>3.0.CO
[3]  
2-R
[4]  
BENDER B, 1983, PEDIATRICS, V71, P262
[5]   Prenatal and postnatal prevalence of Klinefelter syndrome: A national registry study [J].
Bojesen, A ;
Juul, S ;
Gravholt, CH .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (02) :622-626
[6]   KLINEFELTER SYNDROME AND NEUROLOGICAL DISEASE [J].
BOLTSHAUSER, E ;
MEYER, M ;
DEONNA, T .
JOURNAL OF NEUROLOGY, 1978, 219 (04) :253-259
[7]   Specific genetic disorders and autism:: Clinical contribution towards their identification [J].
Cohen, D ;
Pichard, N ;
Tordjman, S ;
Baumann, C ;
Burglen, L ;
Excoffier, E ;
Lazar, G ;
Mazet, P ;
Pinquier, C ;
Verloes, A ;
Héron, D .
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2005, 35 (01) :103-116
[8]   EEG spectral analysis of wakefulness and REM sleep in high functioning autistic spectrum disorders [J].
Daoust, AM ;
Limoges, T ;
Bolduc, C ;
Mottron, L ;
Godbout, R .
CLINICAL NEUROPHYSIOLOGY, 2004, 115 (06) :1368-1373
[9]  
ELIA M, 1995, AM J MENT RETARD, V100, P6
[10]   SEIZURES IN KLINEFELTERS-SYNDROME - A CLINICAL AND EEG STUDY OF 5 PATIENTS [J].
ELIA, M ;
MUSUMECI, SA ;
FERRI, R ;
SCUDERI, C ;
DELGRACCO, S ;
STEFANINI, MC .
ITALIAN JOURNAL OF NEUROLOGICAL SCIENCES, 1995, 16 (04) :231-238
12345