[article]
| Titre : |
Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Elisabeth M. DYKENS, Auteur ; Elizabeth ROOF, Auteur |
| Année de publication : |
2008 |
| Article en page(s) : |
p.1001-1008 |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Prader-Willi-syndrome genetic-subtypes age CYFIP1 |
| Index. décimale : |
PER Périodiques |
| Résumé : |
Background: Some behavioral features of Prader-Willi syndrome (PWS) are associated with the major genetic subtypes of this disorder. While most agree that those with maternal uniparental disomy (UPD) have a distinctive cognitive and psychiatric profile, findings are more controversial regarding possible differences among persons who vary in paternal deletion size.
Methods: Caregivers of 88 persons with PWS aged 5 to 51 years (M = 22 years) were administered measures of problem behavior, compulsivity, hyperphagia, and adaptive skills. The sample was well characterized as having relatively large, Type I (n = 26) or smaller, Type II (n = 29) deletions, or UPD (n = 33).
Results: No significant behavioral differences were found between the Type I versus Type II deletion groups. Within each genetic subtype, however, differences emerged in how advancing age related to behavior. Although age did not emerge as a significant correlate of behavior in the Type II or UPD groups, in the Type I group age was consistently associated with lower problem behaviors, adaptive skills, and externalizing symptoms.
Conclusion: Although differences between deletion subtypes were not found, significant within-subtype differences emerged in relationships between age and behavior. Negative associations between age and behavior in the Type I group only may relate to non-imprinted genes that are deleted in Type I but not Type II cases, including CYFIP1. Altered expression of CYFIP1 is seen in other developmental disabilities, including 15q disorders, and haploinsufficiency of CYFIP1 in Type I PWS cases may be associated with age-related phenotypic effects. Findings underscore the importance of a life-span perspective in phenotypic research. |
| En ligne : |
http://dx.doi.org/10.1111/j.1469-7610.2008.01913.x |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=559 |
in Journal of Child Psychology and Psychiatry > 49-9 (September 2008) . - p.1001-1008
[article] Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age [Texte imprimé et/ou numérique] / Elisabeth M. DYKENS, Auteur ; Elizabeth ROOF, Auteur . - 2008 . - p.1001-1008. Langues : Anglais ( eng) in Journal of Child Psychology and Psychiatry > 49-9 (September 2008) . - p.1001-1008
| Mots-clés : |
Prader-Willi-syndrome genetic-subtypes age CYFIP1 |
| Index. décimale : |
PER Périodiques |
| Résumé : |
Background: Some behavioral features of Prader-Willi syndrome (PWS) are associated with the major genetic subtypes of this disorder. While most agree that those with maternal uniparental disomy (UPD) have a distinctive cognitive and psychiatric profile, findings are more controversial regarding possible differences among persons who vary in paternal deletion size.
Methods: Caregivers of 88 persons with PWS aged 5 to 51 years (M = 22 years) were administered measures of problem behavior, compulsivity, hyperphagia, and adaptive skills. The sample was well characterized as having relatively large, Type I (n = 26) or smaller, Type II (n = 29) deletions, or UPD (n = 33).
Results: No significant behavioral differences were found between the Type I versus Type II deletion groups. Within each genetic subtype, however, differences emerged in how advancing age related to behavior. Although age did not emerge as a significant correlate of behavior in the Type II or UPD groups, in the Type I group age was consistently associated with lower problem behaviors, adaptive skills, and externalizing symptoms.
Conclusion: Although differences between deletion subtypes were not found, significant within-subtype differences emerged in relationships between age and behavior. Negative associations between age and behavior in the Type I group only may relate to non-imprinted genes that are deleted in Type I but not Type II cases, including CYFIP1. Altered expression of CYFIP1 is seen in other developmental disabilities, including 15q disorders, and haploinsufficiency of CYFIP1 in Type I PWS cases may be associated with age-related phenotypic effects. Findings underscore the importance of a life-span perspective in phenotypic research. |
| En ligne : |
http://dx.doi.org/10.1111/j.1469-7610.2008.01913.x |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=559 |
|
Behavior in Prader-Willi syndrome: relationship to genetic subtypes and age in Journal of Child Psychology and Psychiatry, 49-9 (September 2008)
