Quantifying the phenotype in autism spectrum disorders

被引:0
作者
Lord, C [1 ]
Leventhal, BL [1 ]
Cook, EH [1 ]
机构
[1] Univ Chicago, Dept Psychiat, Chicago, IL 60637 USA
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 105卷 / 01期
关键词
autism; PDD-NOS; ADI-R; ADOS; phenotype;
D O I
10.1002/1096-8628(20010108)105:1<36::AID-AJMG1053>3.3.CO;2-W
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Twin and family studies suggest that familial transmission in autism extends to a spectrum of social and behavioral deficits that characterize individuals who have significant impairments within the autism spectrum, but do not meet formal criteria for autistic disorder. Standardized diagnostic instruments, including the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS-WPS Edition), offer the opportunity to quantify deficits across the autism spectrum, controlling effects of language and cognitive delay, in individuals with significant impairments. It is suggested that quantitative measures of social reciprocity and repetitive behaviors and interests, with separate quantification of expressive language level and nonverbal intelligence, most accurately reflect the range of behavioral phenotypes in autism spectrum disorders. Am. J, Med, Genet, (Neuropsychiatr. Genet,) 105:36-38, 2001, (C) 2001 Wiley-Liss, Inc.
引用
收藏
页码:36 / 38
页数:3
相关论文
共 12 条
[1]  
Bailey A, 1998, HUM MOL GENET, V7, P571
[2]  
Barrett S, 1999, AM J MED GENET, V88, P609
[3]  
BASS MP, 1999, NEUROGENETICS, V2
[4]   Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers [J].
Cook, EH ;
Courchesne, RY ;
Cox, NJ ;
Lord, C ;
Gonen, D ;
Guter, SJ ;
Lincoln, A ;
Nix, K ;
Haas, R ;
Leventhal, BL ;
Courchesne, E .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (05) :1077-1083
[5]   AUTISM DIAGNOSTIC INTERVIEW-REVISED - A REVISED VERSION OF A DIAGNOSTIC INTERVIEW FOR CAREGIVERS OF INDIVIDUALS WITH POSSIBLE PERVASIVE DEVELOPMENTAL DISORDERS [J].
LORD, C ;
RUTTER, M ;
LECOUTEUR, A .
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 1994, 24 (05) :659-685
[6]  
Lord C., 1999, AUTISM DIAGNOSTIC OB
[7]   Genome-wide scan for autism susceptibility genes [J].
Philippe, A ;
Martinez, M ;
Guilloud-Bataille, M ;
Gillberg, C ;
Råstam, M ;
Sponheim, E ;
Coleman, M ;
Zappella, M ;
Aschauer, H ;
van Maldergem, L ;
Penet, C ;
Feingold, J ;
Brice, A ;
Leboyer, M .
HUMAN MOLECULAR GENETICS, 1999, 8 (05) :805-812
[8]   A genomic screen of autism: Evidence for a multilocus etiology [J].
Risch, N ;
Spiker, D ;
Lotspeich, L ;
Nouri, N ;
Hinds, D ;
Hallmayer, J ;
Kalaydjieva, L ;
McCague, P ;
Dimiceli, S ;
Pitts, T ;
Nguyen, L ;
Yang, J ;
Harper, C ;
Thorpe, D ;
Vermeer, S ;
Young, H ;
Hebert, J ;
Lin, A ;
Ferguson, J ;
Chiotti, C ;
Wiese-Slater, S ;
Rogers, T ;
Salmon, B ;
Nicholas, P ;
Petersen, PB ;
Pingree, C ;
McMahon, W ;
Wong, DL ;
Cavalli-Sforza, LL ;
Kraemer, HC ;
Myers, RM .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (02) :493-507
[9]   Domains of social communication handicap in autism spectrum disorder [J].
Robertson, JM ;
Tanguay, PE ;
L'ecuyer, S ;
Sims, A ;
Waltrip, C .
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY, 1999, 38 (06) :738-745
[10]   GENETICS OF AUTISM - CHARACTERISTICS OF AFFECTED AND UNAFFECTED CHILDREN FROM 37 MULTIPLEX FAMILIES [J].
SPIKER, D ;
LOTSPEICH, L ;
KRAEMER, HC ;
HALLMAYER, J ;
MCMAHON, W ;
PETERSEN, PB ;
NICHOLAS, P ;
PINGREE, C ;
WIESESLATER, S ;
CHIOTTI, C ;
WONG, DL ;
DIMICELLI, S ;
RITVO, E ;
CAVALLISFORZA, LL ;
CIARANELLO, RD .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 54 (01) :27-35