Joyce Whittington is a psychologist and one of the founder members of the Cambridge PWS Research Group who came together in 1998 to conduct the first population-based study of genetically verified PWS. She is joint author of the book that incorporated the findings from that study with a review of knowledge of PWS as it stood in 2004. She has continued to research many aspects of the PWS phenotype, more recently looking at the extreme ends of the life cycle.
Neurobehavioral phenotype in Prader–Willi syndrome†
Article first published online: 27 OCT 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Behavioral Phenotypes in Neurogenetic Syndromes
Volume 154C, Issue 4, pages 438–447, 15 November 2010
How to Cite
Whittington, J. and Holland, A. (2010), Neurobehavioral phenotype in Prader–Willi syndrome. Am. J. Med. Genet., 154C: 438–447. doi: 10.1002/ajmg.c.30283
How to cite this article: Whittington J, Holland A. 2010. Neurobehavioral phenotype in Prader–Willi syndrome. Am J Med Genet Part C Semin Med Genet 154C:438–447.
- Issue published online: 27 OCT 2010
- Article first published online: 27 OCT 2010
- Isaac Newton Trust
- UK PWS Association
- Health Foundation
- UK NIHR Collaborations in Applied Health Research and Care (CLAHRC) for Cambridgeshire and Peterborough
- Baily Thomas Trust
- Dunhill Medical Trust
- Addenbrookes Hospital Charitable Trust
- 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. © 2010 Wiley-Liss, Inc.