Insistence on sameness and broader autism phenotype in simplex families with autism spectrum disorder

Amy N Esler, Sheri T Stronach, Suma Jacob

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Insistence on sameness (IS) in individuals with autism spectrum disorder (ASD) and their families may have utility in identifying meaningful subgroups for studying the pathophysiological and genetic pathways affected in ASD. The primary objectives of the current study were to (1) characterize features of IS in parents of children with ASD and (2) examine their relationships with child IS symptoms. Participants were 2760 families who participated in the Simons Simplex Collection. Levels of parent IS were measured using the Broader Autism Phenotype Questionnaire (BAPQ). A factor analysis generated a BAPQ-IS scale, consisting of a subset of 11 items from the original BAPQ-Rigid scale. Correlations were run to examine the relationship between parent BAP and child IS variables. Correlations were found between parent IS and measures of child IS. Although relationships between parent and child IS features were statistically significant in this large sample, effect sizes were small. Results may be reflective of sample design that only included simplex families, where ASD severity may be predominantly driven by spontaneous mutations and less by common inherited risk from parents. In addition, child and parent measures used may have differentially captured features and severity of IS. Further research is needed on how IS can be accurately measured throughout development and across individuals with ASD and their unaffected family members to facilitate future studies on IS as a possible endophenotype for ASD. Autism Res 2018, 11: 1253–1263.

Original languageEnglish (US)
Pages (from-to)1253-1263
Number of pages11
JournalAutism Research
Volume11
Issue number9
DOIs
StatePublished - Sep 1 2018

Fingerprint

Autistic Disorder
Phenotype
Parents
Endophenotypes
Parent-Child Relations
Sample Size
Statistical Factor Analysis
Autism Spectrum Disorder
Mutation
Research
Surveys and Questionnaires

Keywords

  • broader autism phenotype
  • insistence on sameness
  • subphenotypes

PubMed: MeSH publication types

  • Journal Article
  • Research Support, Non-U.S. Gov't

Cite this

Insistence on sameness and broader autism phenotype in simplex families with autism spectrum disorder. / Esler, Amy N; Stronach, Sheri T; Jacob, Suma.

In: Autism Research, Vol. 11, No. 9, 01.09.2018, p. 1253-1263.

Research output: Contribution to journalArticle

@article{370eca09a42b408695894745a9f9128b,
title = "Insistence on sameness and broader autism phenotype in simplex families with autism spectrum disorder",
abstract = "Insistence on sameness (IS) in individuals with autism spectrum disorder (ASD) and their families may have utility in identifying meaningful subgroups for studying the pathophysiological and genetic pathways affected in ASD. The primary objectives of the current study were to (1) characterize features of IS in parents of children with ASD and (2) examine their relationships with child IS symptoms. Participants were 2760 families who participated in the Simons Simplex Collection. Levels of parent IS were measured using the Broader Autism Phenotype Questionnaire (BAPQ). A factor analysis generated a BAPQ-IS scale, consisting of a subset of 11 items from the original BAPQ-Rigid scale. Correlations were run to examine the relationship between parent BAP and child IS variables. Correlations were found between parent IS and measures of child IS. Although relationships between parent and child IS features were statistically significant in this large sample, effect sizes were small. Results may be reflective of sample design that only included simplex families, where ASD severity may be predominantly driven by spontaneous mutations and less by common inherited risk from parents. In addition, child and parent measures used may have differentially captured features and severity of IS. Further research is needed on how IS can be accurately measured throughout development and across individuals with ASD and their unaffected family members to facilitate future studies on IS as a possible endophenotype for ASD. Autism Res 2018, 11: 1253–1263.",
keywords = "broader autism phenotype, insistence on sameness, subphenotypes",
author = "Esler, {Amy N} and Stronach, {Sheri T} and Suma Jacob",
year = "2018",
month = "9",
day = "1",
doi = "10.1002/aur.1975",
language = "English (US)",
volume = "11",
pages = "1253--1263",
journal = "Autism Research",
issn = "1939-3806",
publisher = "John Wiley and Sons Inc.",
number = "9",

}

TY - JOUR

T1 - Insistence on sameness and broader autism phenotype in simplex families with autism spectrum disorder

AU - Esler, Amy N

AU - Stronach, Sheri T

AU - Jacob, Suma

PY - 2018/9/1

Y1 - 2018/9/1

N2 - Insistence on sameness (IS) in individuals with autism spectrum disorder (ASD) and their families may have utility in identifying meaningful subgroups for studying the pathophysiological and genetic pathways affected in ASD. The primary objectives of the current study were to (1) characterize features of IS in parents of children with ASD and (2) examine their relationships with child IS symptoms. Participants were 2760 families who participated in the Simons Simplex Collection. Levels of parent IS were measured using the Broader Autism Phenotype Questionnaire (BAPQ). A factor analysis generated a BAPQ-IS scale, consisting of a subset of 11 items from the original BAPQ-Rigid scale. Correlations were run to examine the relationship between parent BAP and child IS variables. Correlations were found between parent IS and measures of child IS. Although relationships between parent and child IS features were statistically significant in this large sample, effect sizes were small. Results may be reflective of sample design that only included simplex families, where ASD severity may be predominantly driven by spontaneous mutations and less by common inherited risk from parents. In addition, child and parent measures used may have differentially captured features and severity of IS. Further research is needed on how IS can be accurately measured throughout development and across individuals with ASD and their unaffected family members to facilitate future studies on IS as a possible endophenotype for ASD. Autism Res 2018, 11: 1253–1263.

AB - Insistence on sameness (IS) in individuals with autism spectrum disorder (ASD) and their families may have utility in identifying meaningful subgroups for studying the pathophysiological and genetic pathways affected in ASD. The primary objectives of the current study were to (1) characterize features of IS in parents of children with ASD and (2) examine their relationships with child IS symptoms. Participants were 2760 families who participated in the Simons Simplex Collection. Levels of parent IS were measured using the Broader Autism Phenotype Questionnaire (BAPQ). A factor analysis generated a BAPQ-IS scale, consisting of a subset of 11 items from the original BAPQ-Rigid scale. Correlations were run to examine the relationship between parent BAP and child IS variables. Correlations were found between parent IS and measures of child IS. Although relationships between parent and child IS features were statistically significant in this large sample, effect sizes were small. Results may be reflective of sample design that only included simplex families, where ASD severity may be predominantly driven by spontaneous mutations and less by common inherited risk from parents. In addition, child and parent measures used may have differentially captured features and severity of IS. Further research is needed on how IS can be accurately measured throughout development and across individuals with ASD and their unaffected family members to facilitate future studies on IS as a possible endophenotype for ASD. Autism Res 2018, 11: 1253–1263.

KW - broader autism phenotype

KW - insistence on sameness

KW - subphenotypes

UR - http://www.scopus.com/inward/record.url?scp=85054485748&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85054485748&partnerID=8YFLogxK

U2 - 10.1002/aur.1975

DO - 10.1002/aur.1975

M3 - Article

C2 - 30289619

AN - SCOPUS:85054485748

VL - 11

SP - 1253

EP - 1263

JO - Autism Research

JF - Autism Research

SN - 1939-3806

IS - 9

ER -