Literature DB >> 23200289

Evidence of a distinct behavioral phenotype in young boys with fragile X syndrome and autism.

Jason J Wolff1, James W Bodfish, Heather C Hazlett, Amy A Lightbody, Allan L Reiss, Joseph Piven.   

Abstract

OBJECTIVE: How does the behavioral expression of autism in fragile X syndrome (FXS + Aut) compare with idiopathic autism (iAut)? Although social impairments and restricted, repetitive behaviors are common to these variants of autism, closer examination of these symptom domains may reveal meaningful similarities and differences. To this end, the specific behaviors comprising the social and repetitive behavioral domains in young children with FXS + Aut and iAut were profiled.
METHOD: Twenty-three male subjects 3 to 5 years old with FXS + Aut were matched by age to a group of 38 boys with iAut. Repetitive behavior was assessed using the Repetitive Behavior Scales-Revised. Social behavior was evaluated using Autism Diagnostic Observation Schedule social item severity scores.
RESULTS: Rates of stereotypy, self-injury, and sameness behaviors did not differ between groups, whereas compulsive and ritual behavior scores were significantly lower for subjects with FXS + Aut compared with those with iAut. Those with FXS + Aut scored significantly lower (less severe) than the iAut group on five Autism Diagnostic Observation Schedule measurements of social behavior: gaze integration, quality of social overtures, social smile, facial expressions, and response to joint attention.
CONCLUSIONS: The behavioral phenotype of FXS + Aut and iAut are most similar with respect to lower-order (motoric) restricted, repetitive behaviors and social approach, but differ in more complex forms of restricted, repetitive behaviors and some social response behaviors. These findings highlight the phenotypic heterogeneity of autism overall and its unique presentation in an etiologically distinct condition.
Copyright © 2012 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

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Year:  2012        PMID: 23200289      PMCID: PMC3513689          DOI: 10.1016/j.jaac.2012.09.001

Source DB:  PubMed          Journal:  J Am Acad Child Adolesc Psychiatry        ISSN: 0890-8567            Impact factor:   8.829


  51 in total

1.  Using the autism diagnostic interview--revised to increase phenotypic homogeneity in genetic studies of autism.

Authors:  Vanessa Hus; Andrew Pickles; Edwin H Cook; Susan Risi; Catherine Lord
Journal:  Biol Psychiatry       Date:  2007-02-15       Impact factor: 13.382

2.  Behavioral phenotype of fragile X syndrome in adolescence and adulthood.

Authors:  Leann E Smith; Erin T Barker; Marsha Mailick Seltzer; Leonard Abbeduto; Jan S Greenberg
Journal:  Am J Intellect Dev Disabil       Date:  2012-01

3.  Distinguishing features of autism in boys with fragile X syndrome.

Authors:  M Brock; D Hatton
Journal:  J Intellect Disabil Res       Date:  2010-08-12

4.  Repetitive and stereotyped behaviours in pervasive developmental disorders.

Authors:  Iris Carcani-Rathwell; Sophia Rabe-Hasketh; Paramala J Santosh
Journal:  J Child Psychol Psychiatry       Date:  2006-06       Impact factor: 8.982

5.  Defining genetically meaningful language and personality traits in relatives of individuals with fragile X syndrome and relatives of individuals with autism.

Authors:  Molly Losh; Jessica Klusek; Gary E Martin; John Sideris; Morgan Parlier; Joseph Piven
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2012-06-12       Impact factor: 3.568

6.  Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors.

Authors:  Walter E Kaufmann; Ranon Cortell; Alice S M Kau; Irena Bukelis; Elaine Tierney; Robert M Gray; Christiane Cox; George T Capone; Pia Stanard
Journal:  Am J Med Genet A       Date:  2004-09-01       Impact factor: 2.802

7.  Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism.

Authors:  Heather Cody Hazlett; Michele D Poe; Amy A Lightbody; Guido Gerig; James R Macfall; Allison K Ross; James Provenzale; Arianna Martin; Allan L Reiss; Joseph Piven
Journal:  J Neurodev Disord       Date:  2009-03       Impact factor: 4.025

8.  Compulsive, self-injurious, and autistic behavior in children and adolescents with fragile X syndrome.

Authors:  Scott S Hall; Amy A Lightbody; Allan L Reiss
Journal:  Am J Ment Retard       Date:  2008-01

9.  Rapid antibody test for fragile X syndrome.

Authors:  R Willemsen; S Mohkamsing; B de Vries; D Devys; A van den Ouweland; J L Mandel; H Galjaard; B Oostra
Journal:  Lancet       Date:  1995-05-06       Impact factor: 79.321

10.  The prevalence and phenomenology of repetitive behavior in genetic syndromes.

Authors:  Joanna Moss; Chris Oliver; Kate Arron; Cheryl Burbidge; Katy Berg
Journal:  J Autism Dev Disord       Date:  2008-11-27
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  51 in total

1.  A comparison of pragmatic language in boys with autism and fragile X syndrome.

Authors:  Jessica Klusek; Gary E Martin; Molly Losh
Journal:  J Speech Lang Hear Res       Date:  2014-10       Impact factor: 2.297

2.  Autism Symptomatology in Boys with Fragile X Syndrome: A Cross Sectional Developmental Trajectories Comparison with Nonsyndromic Autism Spectrum Disorder.

Authors:  Angela John Thurman; Andrea McDuffie; Sara T Kover; Randi J Hagerman; Leonard Abbeduto
Journal:  J Autism Dev Disord       Date:  2015-09

Review 3.  Response to name and its value for the early detection of developmental disorders: Insights from autism spectrum disorder, Rett syndrome, and fragile X syndrome. A perspectives paper.

Authors:  Dajie Zhang; Laura Roche; Katrin D Bartl-Pokorny; Magdalena Krieber; Laurie McLay; Sven Bölte; Luise Poustka; Jeff Sigafoos; Markus Gugatschka; Christa Einspieler; Peter B Marschik
Journal:  Res Dev Disabil       Date:  2018-04-12

4.  Effects of labeling and pointing on object gaze in boys with fragile X syndrome: an eye-tracking study.

Authors:  David P Benjamin; Ann M Mastergeorge; Andrea S McDuffie; Sara T Kover; Randi J Hagerman; Leonard Abbeduto
Journal:  Res Dev Disabil       Date:  2014-07-23

5.  Language Skills of Males with Fragile X Syndrome or Nonsyndromic Autism Spectrum Disorder.

Authors:  Angela John Thurman; Andrea McDuffie; Randi J Hagerman; Cynde K Josol; Leonard Abbeduto
Journal:  J Autism Dev Disord       Date:  2017-03

6.  Longitudinal trajectories of aberrant behavior in fragile X syndrome.

Authors:  Kristin M Hustyi; Scott S Hall; Booil Jo; Amy A Lightbody; Allan L Reiss
Journal:  Res Dev Disabil       Date:  2014-08-15

7.  Use of emotional cues for lexical learning: a comparison of autism spectrum disorder and fragile X syndrome.

Authors:  Angela John Thurman; Andrea McDuffie; Sara T Kover; Randi Hagerman; Marie Moore Channell; Ann Mastergeorge; Leonard Abbeduto
Journal:  J Autism Dev Disord       Date:  2015-04

8.  Symptoms of Autism in Males with Fragile X Syndrome: A Comparison to Nonsyndromic ASD Using Current ADI-R Scores.

Authors:  Andrea McDuffie; Angela John Thurman; Randi J Hagerman; Leonard Abbeduto
Journal:  J Autism Dev Disord       Date:  2015-07

9.  Effect of speaker gaze on word learning in fragile X syndrome: a comparison with nonsyndromic autism spectrum disorder.

Authors:  David P Benjamin; Andrea S McDuffie; Angela J Thurman; Sara T Kover; Ann M Mastergeorge; Randi J Hagerman; Leonard Abbeduto
Journal:  J Speech Lang Hear Res       Date:  2015-04       Impact factor: 2.297

10.  Repetitive behavior profile and supersensitivity to amphetamine in the C58/J mouse model of autism.

Authors:  Sheryl S Moy; Natallia V Riddick; Viktoriya D Nikolova; Brian L Teng; Kara L Agster; Randal J Nonneman; Nancy B Young; Lorinda K Baker; Jessica J Nadler; James W Bodfish
Journal:  Behav Brain Res       Date:  2013-11-08       Impact factor: 3.332

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