Sibling recurrence and the genetic epidemiology of autism

John N. Constantino, Yi Zhang, Thomas Frazier, Anna M. Abbacchi, Paul Law

Research output: Contribution to journalArticle

Abstract

Objective: Although the symptoms of autism exhibit quantitative distributions in nature, estimates of recurrence risk in families have never previously considered or incorporated quantitative characterization of the autistic phenotype among siblings. Method: The authors report the results of quantitative characterization of 2,920 children from 1,235 families participating in a national volunteer register, with at least one child clinically affected by an autism spectrum disorder and at least one full biological sibling. Results: A traditionally defined autism spectrum disorder in an additional child occurred in 10.9% of the families. An additional 20% of nonautism-affected siblings had a history of language delay, one-half of whom exhibited autistic qualities of speech. Quantitative characterization using the Social Responsiveness Scale supported previously reported aggregation of a wide range of subclinical (quantitative) autistic traits among otherwise unaffected children in multiple-incidence families and a relative absence of quantitative autistic traits among siblings in single-incidence families. Girls whose standardized severity ratings fell above a first percentile severity threshold (relative to the general population distribution) were significantly less likely to have elicited community diagnoses than their male counterparts. Conclusions: These data suggest that, depending on how it is defined, sibling recurrence in autism spectrum disorder may exceed previously published estimates and varies as a function of family type. The results support differences in mechanisms of genetic transmission between simplex and multiplex autism and advance current understanding of the genetic epidemiology of autism spectrum conditions.

Original languageEnglish (US)
Pages (from-to)1349-1356
Number of pages8
JournalAmerican Journal of Psychiatry
Volume167
Issue number11
DOIs
StatePublished - Nov 2010
Externally publishedYes

Fingerprint

Molecular Epidemiology
Autistic Disorder
Siblings
Recurrence
Language Development Disorders
Incidence
Volunteers
Demography
Phenotype
Autism Spectrum Disorder

ASJC Scopus subject areas

  • Psychiatry and Mental health

Cite this

Constantino, J. N., Zhang, Y., Frazier, T., Abbacchi, A. M., & Law, P. (2010). Sibling recurrence and the genetic epidemiology of autism. American Journal of Psychiatry, 167(11), 1349-1356. https://doi.org/10.1176/appi.ajp.2010.09101470

Sibling recurrence and the genetic epidemiology of autism. / Constantino, John N.; Zhang, Yi; Frazier, Thomas; Abbacchi, Anna M.; Law, Paul.

In: American Journal of Psychiatry, Vol. 167, No. 11, 11.2010, p. 1349-1356.

Research output: Contribution to journalArticle

Constantino, JN, Zhang, Y, Frazier, T, Abbacchi, AM & Law, P 2010, 'Sibling recurrence and the genetic epidemiology of autism', American Journal of Psychiatry, vol. 167, no. 11, pp. 1349-1356. https://doi.org/10.1176/appi.ajp.2010.09101470
Constantino, John N. ; Zhang, Yi ; Frazier, Thomas ; Abbacchi, Anna M. ; Law, Paul. / Sibling recurrence and the genetic epidemiology of autism. In: American Journal of Psychiatry. 2010 ; Vol. 167, No. 11. pp. 1349-1356.
@article{95fcc76c42ba4db280976c45e8f9939d,
title = "Sibling recurrence and the genetic epidemiology of autism",
abstract = "Objective: Although the symptoms of autism exhibit quantitative distributions in nature, estimates of recurrence risk in families have never previously considered or incorporated quantitative characterization of the autistic phenotype among siblings. Method: The authors report the results of quantitative characterization of 2,920 children from 1,235 families participating in a national volunteer register, with at least one child clinically affected by an autism spectrum disorder and at least one full biological sibling. Results: A traditionally defined autism spectrum disorder in an additional child occurred in 10.9{\%} of the families. An additional 20{\%} of nonautism-affected siblings had a history of language delay, one-half of whom exhibited autistic qualities of speech. Quantitative characterization using the Social Responsiveness Scale supported previously reported aggregation of a wide range of subclinical (quantitative) autistic traits among otherwise unaffected children in multiple-incidence families and a relative absence of quantitative autistic traits among siblings in single-incidence families. Girls whose standardized severity ratings fell above a first percentile severity threshold (relative to the general population distribution) were significantly less likely to have elicited community diagnoses than their male counterparts. Conclusions: These data suggest that, depending on how it is defined, sibling recurrence in autism spectrum disorder may exceed previously published estimates and varies as a function of family type. The results support differences in mechanisms of genetic transmission between simplex and multiplex autism and advance current understanding of the genetic epidemiology of autism spectrum conditions.",
author = "Constantino, {John N.} and Yi Zhang and Thomas Frazier and Abbacchi, {Anna M.} and Paul Law",
year = "2010",
month = "11",
doi = "10.1176/appi.ajp.2010.09101470",
language = "English (US)",
volume = "167",
pages = "1349--1356",
journal = "American Journal of Psychiatry",
issn = "0002-953X",
publisher = "American Psychiatric Association",
number = "11",

}

TY - JOUR

T1 - Sibling recurrence and the genetic epidemiology of autism

AU - Constantino, John N.

AU - Zhang, Yi

AU - Frazier, Thomas

AU - Abbacchi, Anna M.

AU - Law, Paul

PY - 2010/11

Y1 - 2010/11

N2 - Objective: Although the symptoms of autism exhibit quantitative distributions in nature, estimates of recurrence risk in families have never previously considered or incorporated quantitative characterization of the autistic phenotype among siblings. Method: The authors report the results of quantitative characterization of 2,920 children from 1,235 families participating in a national volunteer register, with at least one child clinically affected by an autism spectrum disorder and at least one full biological sibling. Results: A traditionally defined autism spectrum disorder in an additional child occurred in 10.9% of the families. An additional 20% of nonautism-affected siblings had a history of language delay, one-half of whom exhibited autistic qualities of speech. Quantitative characterization using the Social Responsiveness Scale supported previously reported aggregation of a wide range of subclinical (quantitative) autistic traits among otherwise unaffected children in multiple-incidence families and a relative absence of quantitative autistic traits among siblings in single-incidence families. Girls whose standardized severity ratings fell above a first percentile severity threshold (relative to the general population distribution) were significantly less likely to have elicited community diagnoses than their male counterparts. Conclusions: These data suggest that, depending on how it is defined, sibling recurrence in autism spectrum disorder may exceed previously published estimates and varies as a function of family type. The results support differences in mechanisms of genetic transmission between simplex and multiplex autism and advance current understanding of the genetic epidemiology of autism spectrum conditions.

AB - Objective: Although the symptoms of autism exhibit quantitative distributions in nature, estimates of recurrence risk in families have never previously considered or incorporated quantitative characterization of the autistic phenotype among siblings. Method: The authors report the results of quantitative characterization of 2,920 children from 1,235 families participating in a national volunteer register, with at least one child clinically affected by an autism spectrum disorder and at least one full biological sibling. Results: A traditionally defined autism spectrum disorder in an additional child occurred in 10.9% of the families. An additional 20% of nonautism-affected siblings had a history of language delay, one-half of whom exhibited autistic qualities of speech. Quantitative characterization using the Social Responsiveness Scale supported previously reported aggregation of a wide range of subclinical (quantitative) autistic traits among otherwise unaffected children in multiple-incidence families and a relative absence of quantitative autistic traits among siblings in single-incidence families. Girls whose standardized severity ratings fell above a first percentile severity threshold (relative to the general population distribution) were significantly less likely to have elicited community diagnoses than their male counterparts. Conclusions: These data suggest that, depending on how it is defined, sibling recurrence in autism spectrum disorder may exceed previously published estimates and varies as a function of family type. The results support differences in mechanisms of genetic transmission between simplex and multiplex autism and advance current understanding of the genetic epidemiology of autism spectrum conditions.

UR - http://www.scopus.com/inward/record.url?scp=78349291914&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=78349291914&partnerID=8YFLogxK

U2 - 10.1176/appi.ajp.2010.09101470

DO - 10.1176/appi.ajp.2010.09101470

M3 - Article

C2 - 20889652

AN - SCOPUS:78349291914

VL - 167

SP - 1349

EP - 1356

JO - American Journal of Psychiatry

JF - American Journal of Psychiatry

SN - 0002-953X

IS - 11

ER -