Conflict of interest statement: No conflicts declared.
Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class
Article first published online: 10 AUG 2011
© 2011 The Authors. Journal of Child Psychology and Psychiatry © 2011 Association for Child and Adolescent Mental Health.
Journal of Child Psychology and Psychiatry
Volume 53, Issue 2, pages 152–159, February 2012
How to Cite
Peters, S. U., Horowitz, L., Barbieri-Welge, R., Taylor, J. L. and Hundley, R. J. (2012), Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class. Journal of Child Psychology and Psychiatry, 53: 152–159. doi: 10.1111/j.1469-7610.2011.02455.x
- Issue published online: 12 JAN 2012
- Article first published online: 10 AUG 2011
- Accepted for publication: 11 July 2011 Published online: 10 August 2011
- Chromosome anomalies;
- autistic disorder;
- adaptive behavior;
- longitudinal studies
Background: Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual disability, lack of speech, and low threshold for laughter; it is considered a ‘syndromic’ form of autism spectrum disorder (ASD). Previous studies have indicated overlap of ASD and AS, primarily in individuals with larger (∼6 Mb) Class I deletions of chromosome 15q11-13. Questions remain regarding whether intellectual disability solely contributes to ASD features in AS and how ASD features in AS change over time. In this study, we used a dimensional approach to examine ASD symptom severity in individuals with AS Class I versus Class II deletions within the context of cognitive development over time.
Methods: A total of 17 participants with a larger, Class I deletion and 25 participants with a smaller Class II deletion (∼5 Mb) were enrolled (age range = 2–25 years; 5 years 5 months). Standardized measures of cognition, language, motor skills, adaptive skills, maladaptive behavior, autism, and sensory-seeking behaviors/aversions were given at baseline and after 12 months.
Results: Despite equivalent cognition and adaptive behavior, the results of repeated measures analyses of variance indicate that participants with Class I deletions have greater impairment in social affect (F = 8.65; p = .006) and more repetitive behaviors (F = 7.92; p = .008) compared to participants with Class II deletions. Although both groups improve in cognition over time, differences in ASD behaviors persist.
Conclusions: Despite a lack of differences in cognition or adaptive behavior, individuals with Class I deletions have greater severity in ASD features and sensory aversions that remain over time. There are four genes (NIPA 1, NIPA 2, CYFIP1, and GCP5) missing in Class I and present in Class Il deletions, one or more of which may have a role in modifying the severity of social affect impairment, and level of restricted/repetitive behaviors in AS. Our results also suggest the utility of a dimensional, longitudinal approach to the assessment of ASD features in populations of individuals who are low functioning.