The fragile X syndrome-autism comorbidity: what do we really know?

Autism spectrum disorder (ASD) is a common comorbid condition in people with fragile X syndrome (FXS). It has been assumed that ASD symptoms reflect the same underlying psychological and neurobiological impairments in both FXS and nonsyndromic ASD, which has led to the claim that targeted pharmaceut...

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Main Authors: Leonard eAbbeduto, Andrea eMcDuffie, Angela John Thurman
Format: Article
Language:English
Published: Frontiers Media S.A. 2014-10-01
Series:Frontiers in Genetics
Subjects:
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00355/full
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author Leonard eAbbeduto
Andrea eMcDuffie
Angela John Thurman
author_facet Leonard eAbbeduto
Andrea eMcDuffie
Angela John Thurman
author_sort Leonard eAbbeduto
collection DOAJ
description Autism spectrum disorder (ASD) is a common comorbid condition in people with fragile X syndrome (FXS). It has been assumed that ASD symptoms reflect the same underlying psychological and neurobiological impairments in both FXS and nonsyndromic ASD, which has led to the claim that targeted pharmaceutical treatments that are efficacious for core symptoms of FXS are likely to be beneficial for nonsyndromic ASD as well. In contrast, we present evidence from a variety of sources suggesting that there are important differences in ASD symptoms, behavioral and psychiatric correlates, and developmental trajectories between individuals with comorbid FXS and ASD and those with nonsyndromic ASD. We also present evidence suggesting that social impairments may not distinguish individuals with FXS with and without ASD. Finally, we present data that demonstrate that the neurobiological substrates of the behavioral impairments, including those reflecting core ASD symptoms, are different in FXS and nonsyndromic ASD. Together, these data suggest that there are clinically important differences between FXS and nonsyndromic ASD that are masked by reliance on the categorical diagnosis of ASD. We argue for use of a symptom-based approach in future research, including studies designed to evaluate treatment efficacy.
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spelling doaj.art-7aeab7bef60c469d83b2760c5fe2189f2022-12-21T19:33:16ZengFrontiers Media S.A.Frontiers in Genetics1664-80212014-10-01510.3389/fgene.2014.00355102518The fragile X syndrome-autism comorbidity: what do we really know?Leonard eAbbeduto0Andrea eMcDuffie1Angela John Thurman2University of California, Davis MIND InstituteUniversity of California, Davis MIND InstituteUniversity of California, Davis MIND InstituteAutism spectrum disorder (ASD) is a common comorbid condition in people with fragile X syndrome (FXS). It has been assumed that ASD symptoms reflect the same underlying psychological and neurobiological impairments in both FXS and nonsyndromic ASD, which has led to the claim that targeted pharmaceutical treatments that are efficacious for core symptoms of FXS are likely to be beneficial for nonsyndromic ASD as well. In contrast, we present evidence from a variety of sources suggesting that there are important differences in ASD symptoms, behavioral and psychiatric correlates, and developmental trajectories between individuals with comorbid FXS and ASD and those with nonsyndromic ASD. We also present evidence suggesting that social impairments may not distinguish individuals with FXS with and without ASD. Finally, we present data that demonstrate that the neurobiological substrates of the behavioral impairments, including those reflecting core ASD symptoms, are different in FXS and nonsyndromic ASD. Together, these data suggest that there are clinically important differences between FXS and nonsyndromic ASD that are masked by reliance on the categorical diagnosis of ASD. We argue for use of a symptom-based approach in future research, including studies designed to evaluate treatment efficacy.http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00355/fullFragile X SyndromeAutism Spectrum Disordercomorbid conditionslanguage and communication impairmentspsychiatric conditions
spellingShingle Leonard eAbbeduto
Andrea eMcDuffie
Angela John Thurman
The fragile X syndrome-autism comorbidity: what do we really know?
Frontiers in Genetics
Fragile X Syndrome
Autism Spectrum Disorder
comorbid conditions
language and communication impairments
psychiatric conditions
title The fragile X syndrome-autism comorbidity: what do we really know?
title_full The fragile X syndrome-autism comorbidity: what do we really know?
title_fullStr The fragile X syndrome-autism comorbidity: what do we really know?
title_full_unstemmed The fragile X syndrome-autism comorbidity: what do we really know?
title_short The fragile X syndrome-autism comorbidity: what do we really know?
title_sort fragile x syndrome autism comorbidity what do we really know
topic Fragile X Syndrome
Autism Spectrum Disorder
comorbid conditions
language and communication impairments
psychiatric conditions
url http://journal.frontiersin.org/Journal/10.3389/fgene.2014.00355/full
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