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

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Colleges, School and Institutes


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.


Original languageEnglish
Pages (from-to)1019-1032
Number of pages14
JournalJournal of Autism and Developmental Disorders
Issue number8
Early online date16 Nov 2010
Publication statusPublished - Aug 2011


  • Affect, Autism spectrum disorder, Behavioral phenotype, Genetic syndromes, Hyperactivity, Impulsivity, adolescent, adult, affect, article, autism, behavior, cat cry syndrome, child, de Lange syndrome, female, fragile X syndrome, happy puppet syndrome, human, hyperactivity, impulsiveness, Lowe syndrome, major clinical study, male, phenotype, Prader Willi syndrome, preschool child, priority journal, school child, scoring system, Smith Magenis syndrome, symptomatology, syndrome delineation, Adolescent, Adult, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosome Disorders, Female, Humans, Hyperkinesis, Male, Middle Aged, Phenotype