[article] 
inJournal of Child Psychology and Psychiatry > 53-2 (February 2012) . - p.152-159

Titre :	Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class
Type de document :	Texte imprimé et/ou numérique
Auteurs :	Sarika U. PETERS, Auteur ; Lucia HOROWITZ, Auteur ; Rene BARBIERI-WELGE, Auteur ; Julie LOUNDS TAYLOR, Auteur ; Rachel J. HUNDLEY, Auteur
Année de publication :	2012
Article en page(s) :	p.152-159
Langues :	Anglais (eng)
Mots-clés :	Chromosome anomalies  autistic disorder  cognition  adaptive behavior  longitudinal studies
Index. décimale :	PER Périodiques
Résumé :	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.
En ligne :	http://dx.doi.org/10.1111/j.1469-7610.2011.02455.x
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=150

[article] Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class [Texte imprimé et/ou numérique] / Sarika U. PETERS, Auteur ; Lucia HOROWITZ, Auteur ; Rene BARBIERI-WELGE, Auteur ; Julie LOUNDS TAYLOR, Auteur ; Rachel J. HUNDLEY, Auteur . - 2012 . - p.152-159.
Langues : Anglais (eng)
in Journal of Child Psychology and Psychiatry > 53-2 (February 2012) . - p.152-159

Mots-clés :	Chromosome anomalies  autistic disorder  cognition  adaptive behavior  longitudinal studies
Index. décimale :	PER Périodiques
Résumé :	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.
En ligne :	http://dx.doi.org/10.1111/j.1469-7610.2011.02455.x
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=150