Cognitive abilities and genotype in a population-based sample of people with Prader-Willi syndrome.

摘要: Background  Prader–Willi syndrome (PWS) is characterized by extreme floppiness at birth, impaired sexual development, short stature, severe over-eating, characteristic physical features and learning disabilities (LD). Impaired social cognition, literal mindedness cognitive inflexibility are also present. The has two main genetic subtypes that both result in the failure of expression maternally imprinted genes on chromosome 15 locus q11-13. Methods  Through multiple sources, we attempted to identify all people with PWS living one health region UK. Additional identified other regions were recruited augment study sample. A comparison group LD as a aetiologies than was identified. All from these three groups, over age three, who gave their consent, assessed using tests ability attainment. In addition, carers interviewed semistructured interview. Blood samples for diagnosis obtained consenting participants. Findings  IQ distribution population sample approximately normal mean 40 points below general population. There systematic differences between subtypes. Those disomies differed profiles those deletions (the latter groups very similar) terms better verbal abilities coding ability. Some had strong visuospatial skills. Interpretation  We propose IQ, shifted downwards relative population, global effect gene(s), different profile seen maternal specific gene, or genes, which differentially either expressed not deletions. One hypothesis subtle manifestation influences gender-specific cerebral lateralization. This requires further investigation.