Longitudinal Follow-up of Autism Spectrum Features and Sensory Behaviors in Angelman Syndrome by Deletion Class

Autor/inn/en	Peters, Sarika U.; Horowitz, Lucia; Barbieri-Welge, Rene; Taylor, Julie Lounds; Hundley, Rachel J.
Titel	Longitudinal Follow-up of Autism Spectrum Features and Sensory Behaviors in Angelman Syndrome by Deletion Class
Quelle	In: Journal of Child Psychology and Psychiatry, 53 (2012) 2, S.152-159 (8 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0021-9630
DOI	10.1111/j.1469-7610.2011.02455.x
Schlagwörter	Mental Retardation; Autism; Adjustment (to Environment); Severity (of Disability); Cognitive Development; Longitudinal Studies; Genetics; Symptoms (Individual Disorders); Measures (Individuals); Schemata (Cognition); Language Skills; Psychomotor Skills; Statistical Analysis; Sensory Integration + Suchen Sie Ihr Suchwort? Geistige Behinderung; Autismus; Schweregrad; Kognitive Entwicklung; Longitudinal study; Longitudinal method; Longitudinal methods; Längsschnittuntersuchung; Humangenetik; Psychiatrische Symptomatik; Messdaten; Cognition; Schema; Kognition; Language skill; Sprachkompetenz; Psychomotorische Aktivität; Statistische Analyse; Sensorische Integration
Abstract	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 (approximately 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 (approximately 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 = 0.006) and more repetitive behaviors (F = 7.92; p = 0.008) 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 II 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. (As Provided).
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Update	2017/4/10