A Multisite Study of the Clinical Diagnosis of Different Autism Spectrum Disorders

被引:290
作者
Lord, Catherine [1 ]
Petkova, Eva [2 ,3 ]
Hus, Vanessa [6 ]
Gan, Weijin [3 ]
Lu, Feihan [3 ]
Martin, Donna M. [7 ,8 ]
Ousley, Opal [9 ]
Guy, Lisa [11 ]
Bernier, Raphael [12 ]
Gerdts, Jennifer [13 ]
Algermissen, Molly [4 ]
Whitaker, Agnes [4 ]
Sutcliffe, James S. [14 ,15 ]
Warren, Zachary [16 ,17 ]
Klin, Ami [9 ,10 ]
Saulnier, Celine [9 ]
Hanson, Ellen [18 ]
Hundley, Rachel [18 ]
Piggot, Judith [19 ,20 ]
Fombonne, Eric [21 ]
Steiman, Mandy [21 ]
Miles, Judith [22 ]
Kanne, Stephen M. [23 ]
Goin-Kochel, Robin P. [23 ]
Peters, Sarika U. [16 ]
Cook, Edwin H. [24 ]
Guter, Stephen [24 ]
Tjernagel, Jennifer [5 ]
Green-Snyder, Lee Anne [6 ]
Bishop, Somer [25 ]
Esler, Amy [26 ]
Gotham, Katherine [6 ]
Luyster, Rhiannon [18 ]
Miller, Fiona [6 ]
Olson, Jennifer [6 ]
Richler, Jennifer [27 ]
Risi, Susan [6 ]
机构
[1] Weill Cornell Med Coll, Inst Brain Dev, White Plains, NY 10605 USA
[2] Nathan Klein Inst Psychiat Res, Orangeburg, NY USA
[3] NYU, Dept Child & Adolescent Psychiat, New York, NY USA
[4] Columbia Univ, Med Ctr, Div Child & Adolescent Psychiat, New York, NY USA
[5] Simons Fdn, New York, NY USA
[6] Autism & Commun Disorders Ctr, Ann Arbor, MI USA
[7] Univ Michigan, Dept Pediat, Ann Arbor, MI 48109 USA
[8] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA
[9] Emory Univ, Sch Med, Atlanta, GA 30322 USA
[10] Childrens Healthcare Atlanta, Marcus Autism Ctr, Atlanta, GA USA
[11] Childrens Hosp Philadelphia, Ctr Autism Res, Philadelphia, PA USA
[12] Univ Washington, Dept Psychiat, Seattle, WA 98195 USA
[13] Univ Washington, Dept Psychol, Seattle, WA 98195 USA
[14] Vanderbilt Kennedy Ctr, Dept Mol Physiol & Biophys, Nashville, TN USA
[15] Vanderbilt Kennedy Ctr, Dept Psychiat, Nashville, TN USA
[16] Vanderbilt Univ, Med Ctr, Dept Pediat, Nashville, TN 37232 USA
[17] Vanderbilt Univ, Med Ctr, Dept Psychiat, Nashville, TN 37240 USA
[18] Harvard Univ, Sch Med, Div Dev Med, Childrens Hosp Boston, Cambridge, MA 02138 USA
[19] Univ Calif Los Angeles, Ctr Autism Res & Treatment, Semel Inst Neurosci, Los Angeles, CA 90024 USA
[20] Univ Calif Los Angeles, Dept Psychiat, Semel Inst Neurosci, Los Angeles, CA 90024 USA
[21] Montreal Childrens Hosp, Dept Psychiat, Quebec City, PQ, Canada
[22] Univ Missouri, Thompson Ctr Autism & Neurodev Disorders, Columbia, MO 65211 USA
[23] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA
[24] Univ Illinois, Dept Psychiat, Inst Juvenile Res, Chicago, IL 60612 USA
[25] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH USA
[26] Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA
[27] Indiana Univ, Dept Psychol & Brain Sci, Bloomington, IN USA
关键词
OBSERVATION-SCHEDULE; CHILDREN; ABILITIES; PATTERNS; GROWTH;
D O I
10.1001/archgenpsychiatry.2011.148
中图分类号
R749 [精神病学];
学科分类号
100205 ;
摘要
Context: Best-estimate clinical diagnoses of specific autism spectrum disorders (autistic disorder, pervasive developmental disorder-not otherwise specified, and Asperger syndrome) have been used as the diagnostic gold standard, even when information from standardized instruments is available. Objective: To determine whether the relationships between behavioral phenotypes and clinical diagnoses of different autism spectrum disorders vary across 12 university-based sites. Design: Multisite observational study collecting clinical phenotype data (diagnostic, developmental, and demographic) for genetic research. Classification trees were used to identify characteristics that predicted diagnosis across and within sites. Setting: Participants were recruited through 12 university-based autism service providers into a genetic study of autism. Participants: A total of 2102 probands (1814 male probands) between 4 and 18 years of age (mean [SD] age, 8.93 [3.5] years) who met autism spectrum criteria on the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule and who had a clinical diagnosis of an autism spectrum disorder. Main Outcome Measure: Best-estimate clinical diagnoses predicted by standardized scores from diagnostic, cognitive, and behavioral measures. Results: Although distributions of scores on standardized measures were similar across sites, significant site differences emerged in best-estimate clinical diagnoses of specific autism spectrum disorders. Relationships between clinical diagnoses and standardized scores, particularly verbal IQ, language level, and core diagnostic features, varied across sites in weighting of information and cutoffs. Conclusions: Clinical distinctions among categorical diagnostic subtypes of autism spectrum disorders were not reliable even across sites with well-documented fidelity using standardized diagnostic instruments. Results support the move from existing subgroupings of autism spectrum disorders to dimensional descriptions of core features of social affect and fixated, repetitive behaviors, together with characteristics such as language level and cognitive function. Arch Gen Psychiatry. 2012; 69(3): 306-313. Published online November 7, 2011. doi: 10.1001/archgenpsychiatry.2011.148
引用
收藏
页码:306 / 313
页数:8
相关论文
共 35 条
  • [1] Evidence for a language quantitative trait locus on chromosome 7q in multiplex autism families
    Alarcón, M
    Cantor, RM
    Liu, JJ
    Gilliam, TC
    Geschwind, DH
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (01) : 60 - 71
  • [2] AMAN MG, 1985, AM J MENT DEF, V89, P485
  • [3] American Psychiatric Association, 2013, Diagnostic and statistical manual of mental disorders, DOI 10.1176/appi.books.9780890425596
  • [4] Patterns of growth in verbal abilities among children with autism spectrum disorder
    Anderson, Deborah K.
    Lord, Catherine
    Risi, Susan
    Shulman, Cory
    Welch, Kathleen
    DiLavore, Pamela S.
    Thurm, Audrey
    Pickles, Andrew
    [J]. JOURNAL OF CONSULTING AND CLINICAL PSYCHOLOGY, 2007, 75 (04) : 594 - 604
  • [5] Patterns of Growth in Adaptive Social Abilities Among Children with Autism Spectrum Disorders
    Anderson, Deborah K.
    Oti, Rosalind S.
    Lord, Catherine
    Welch, Kathleen
    [J]. JOURNAL OF ABNORMAL CHILD PSYCHOLOGY, 2009, 37 (07) : 1019 - 1034
  • [6] [Anonymous], 1993, Resampling-Based Multiple Testing: Examples and Methods for p-Value Adjustment
  • [7] [Anonymous], 2001, Educating children with autism
  • [8] A review of subtyping in autism and proposed dimensional classification model
    Beglinger, LJ
    Smith, TH
    [J]. JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS, 2001, 31 (04) : 411 - 422
  • [9] Breiman L., 1983, CART: Classification and regression trees
  • [10] Pervasive developmental disorders in preschool children: Confirmation of high prevalence
    Chakrabarti, S
    Fombonne, E
    [J]. AMERICAN JOURNAL OF PSYCHIATRY, 2005, 162 (06) : 1133 - 1141