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.
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The n may vary for the analysis due to missing data.
FXS and LS groups excluded from analysis due to the X linked nature of the syndromes and exclusion of females in the FXS group.
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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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Oliver, C., Berg, K., Moss, J. et al. Delineation of Behavioral Phenotypes in Genetic Syndromes: Characteristics of Autism Spectrum Disorder, Affect and Hyperactivity. J Autism Dev Disord 41, 1019–1032 (2011). https://doi.org/10.1007/s10803-010-1125-5
- Behavioral phenotype
- Autism spectrum disorder
- Genetic syndromes