Journal of Autism and Developmental Disorders

, Volume 41, Issue 8, pp 1019–1032 | Cite as

Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity

  • Chris OliverEmail author
  • Katy Berg
  • Jo Moss
  • Kate Arron
  • Cheryl Burbidge
Original paper


We investigated autism spectrum disorder (ASD) symptomatology, hyperactivity and affect in seven genetic syndromes; Angelman (AS; n = 104), Cri du Chat (CdCS; 58), Cornelia de Lange (CdLS; 101), Fragile X (FXS; 191), Prader-Willi (PWS; 189), Smith-Magenis (SMS; 42) and Lowe (LS; 56) syndromes (age range 4–51). ASD symptomatology was heightened in CdLS and FXS. High levels of impulsivity were seen in SMS, AS, CdCS, FXS and adults with CdLS. Negative affect was prominent in adults with CdLS, while positive affect was prominent in adults with AS and FXS. Heightened levels of overactivity and impulsivity were identified in FXS, AS and SMS while low levels were identified in PWS. These findings confirm and extend previously reported behavioral phenotypes.


Behavioral phenotype Autism spectrum disorder Hyperactivity Impulsivity Affect Genetic syndromes 



We are grateful to the Angelman Syndrome Support Education and Research Trust, Cri du Chat Syndrome Support Group, Fragile X Society, Prader-Willi Syndrome Association, Lowe Syndrome Trust UK, Lowe Syndrome Association USA, Smith-Magenis Syndrome Foundation and the Cornelia de Lange Syndrome Foundation (UK and Ireland). Michelle Hooker and Sarah Duffay assisted with data collection.


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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Chris Oliver
    • 1
    Email author
  • Katy Berg
    • 1
    • 4
  • Jo Moss
    • 1
    • 2
  • Kate Arron
    • 1
    • 5
  • Cheryl Burbidge
    • 1
    • 3
  1. 1.Centre for Neurodevelopmental Disorders, School of PsychologyUniversity of BirminghamEdgbaston, BirminghamUK
  2. 2.Department of Psychology, Institute of PsychiatryKings CollegeLondonUK
  3. 3.Department of PsychologySolihull NHS TrustSolihullUK
  4. 4.Camden Psychological Therapies ServiceLondonUK
  5. 5.South Birmingham CAMHS Psychology Service at Parkview ClinicBirminghamUK

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