Autism and Genetics: A Decade of Research

doi:10.1001/archpsyc.1988.01800340081013

You are seeing this message because your Web browser does not support basic Web standards. Find out more about why this message is appearing and what you can do to make your experience on this site better.

Vol. 45 No. 10, October 1988

Online Only
	•	Online First Table of Contents

PERSPECTIVES

•	Online Features

This Article
•	References
•	Full text PDF
•	Reply to article
•	Send to a friend
•	Save in My Folder
•	Save to citation manager
•	Permissions

Citing Articles
•	Citation map
•	Citing articles on HighWire
•	Citing articles on Web of Science (227)
•	Contact me when this article is cited

Related Content
•	Similar articles in this journal

Social Bookmarking
	What's this?

Autism and Genetics

A Decade of Research

Susan L. Smalley, PhD; Robert F. Asarnow, PhD; M. Anne Spence, PhD

Arch Gen Psychiatry. 1988;45(10):953-961.

Abstract

• The last ten years of research on the genetics of infantileautism were critically reviewed. Epidemiologic findings haveshown that autism is a rare disorder with a prevalence of twoto five per 10 000, a male-female ratio of 3:1, and an associationwith mental retardation (66% to 75% of autistic subjects havefull-scale IQ scores [70). Autism is familial, as reflectedin an empiric sibling recurrence risk of 3% and pooled monozygoticand dizygotic concordance rates of 64% and 9%, respectively,which are much greater than the population prevalence of 0.02%to 0.05%. Genetic heterogeneity is pronounced with potentialgenetic subgroups, including autosomal recessive inheritance,X-linked inheritance, and sporadic chromosomal anomalies. Studiesof subclinical markers in autism have elucidated potential markersat various levels of phenotypic expression from the DNA to thebehavioral level. Linkage and cytogenetic studies point to twochromosome regions as putative markers, 9q34 and Xq27. Resultsof family studies support a putative biochemical marker, lowlevels of plasma dopamine-β-hydroxylase, and a putativecognitive marker, ie, normal visuospatial but low verbal functioning,in autism. The frequency of minor physical anomalies and presenceor absence of mental retardation are two dimensions of the physicaland behavioral phenotype that may demark etiologically distinctsubgroups. Genetic heterogeneity is offered as one explanationof the observed sex difference in the prevalence of autism.Directions for potentially fruitful research should be considered.

Author Affiliations

From the Department of Psychiatry, UCLA School of Medicine.

Footnotes

Accepted for publication Jan 15, 1988.

Reprint requests to Department of Psychiatry, UCLA School ofMedicine, 760 Westwood Plaza, Los Angeles, CA 90024 (Dr Smalley).

Add to CiteULike CiteULike Add to Connotea Connotea Add to Delicious Delicious Add to Digg Digg Facebook Add to Reddit Reddit Add to Technorati Technorati Twitter What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Minor physical anomalies in children with autism spectrum disorders
Angkustsiri et al.
Autism 2011;15:746-760.
ABSTRACT

Similar White Matter Aberrations in Children With Autism and Their Unaffected Siblings: A Diffusion Tensor Imaging Study Using Tract-Based Spatial Statistics
Barnea-Goraly et al.
Arch Gen Psychiatry 2010;67:1052-1060.
ABSTRACT | FULL TEXT

Characteristics and Concordance of Autism Spectrum Disorders Among 277 Twin Pairs
Rosenberg et al.
Arch Pediatr Adolesc Med 2009;163:907-914.
ABSTRACT | FULL TEXT

Prenatal and Perinatal Risk Factors for Autism: A Review and Integration of Findings
Kolevzon et al.
Arch Pediatr Adolesc Med 2007;161:326-333.
ABSTRACT | FULL TEXT

Language development among the siblings of children with autistic spectrum disorder
Chuthapisith et al.
Autism 2007;11:149-160.
ABSTRACT

{beta} 2-Adrenergic Receptor Activation and Genetic Polymorphisms in Autism: Data from Dizygotic Twins
Connors et al.
J Child Neurol 2005;20:876-884.
ABSTRACT

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations
Butler et al.
J. Med. Genet. 2005;42:318-321.
ABSTRACT | FULL TEXT

The Broad Autism Phenotype: Findings from an Epidemiological Survey
Micali et al.
Autism 2004;8:21-37.
ABSTRACT

Association between schizophrenia with ocular misalignment and polyalanine length variation in PMX2B
Toyota et al.
Hum Mol Genet 2004;13:551-561.
ABSTRACT | FULL TEXT

The Prevalence of Autistic Spectrum Disorders in People Using a Community Learning Disabilities Service
Hare et al.
J Intellect Disabil 2003;7:267-281.
ABSTRACT

Heritable and Nonheritable Risk Factors for Autism Spectrum Disorders
Newschaffer et al.
Epidemiol Rev 2002;24:137-153.
FULL TEXT

A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation
Borg et al.
J. Med. Genet. 2002;39:391-399.
ABSTRACT | FULL TEXT

Autism: recent molecular genetic advances
Lamb et al.
Hum Mol Genet 2000;9:861-868.
ABSTRACT | FULL TEXT

Serotonin Transporter (5-HTT) Gene Variants Associated with Autism?
Kluck et al.
Hum Mol Genet 1997;6:2233-2238.
ABSTRACT | FULL TEXT

Autism and Multiple Exostoses Associated with an X;8 Translocation Occurring Within the GRPR Gene and 3' to the SDC2 Gene
Ishikawa-Brush et al.
Hum Mol Genet 1997;6:1241-1250.
ABSTRACT | FULL TEXT

Autism Research: Bringing Together Approaches to Pull Apart the Disorder
McBride et al.
Arch Gen Psychiatry 1996;53:980-983.
ABSTRACT

The Neurobiology of Infantile Autism
Ciaranello and Ciaranello
Neuroscientist 1995;1:361-367.
ABSTRACT

The genetic basis of complex human behaviors
Plomin et al.
Science 1994;264:1733-1739.
ABSTRACT

| | |