Neurobehavioral Phenotype in Prader-Willi Syndrome

作者：Whittington Joyce^*; Holland Anthony

来源：American Journal of Medical Genetics Part C-Seminars in Medical Genetics, 2010, 154C(4): 438-447.

DOI：10.1002/ajmg.c.30283

• Prader-Willi syndrome
• behavioral phenotypes
• genomic imprinting
• abnormal satiety
• psychotic illness

The focus of this article is on the lifetime development of people with Prader-Willi syndrome (PWS) and specifically on the neurobehavioral phenotype. We consider studies of this aspect of the phenotype (the "behavioral phenotype'' of the syndrome) that have confirmed that there are specific behaviors and psychiatric disorders, the propensities to which are increased in those with PWS, and cannot be accounted for by other variables such as IQ or adaptive behavior. Beginning with a description of what is observed in people with PWS, we review the evolving PWS phenotype and consider how some aspects of the phenotype might be best explained, and how this complex phenotype may relate to the equally complex genotype. We then consider in more detail some of the neurobehavioral aspects of the phenotype listed above that raise the greatest management problems for parents and carers.

• 出版日期2010-11-15