Background: This three‐part study examines previous clinical impressions that people with Prader‐Willi syndrome have unusual jigsaw puzzle and word search skills. Results: Children with Prader‐Willi syndrome showed relative strengths on standardized visual‐spatial tasks (Object Assembly, Triangles, VMI) in that their scores were significantly higher than age‐ and IQ‐matched peers with mixed mental retardation, but below those of age‐matched normal children with average IQs. In striking contrast, children with Prader‐Willi syndrome scored on par with normal peers on word searches, and they far outperformed them on the jigsaw puzzles, placing more than twice as many pieces as the typically‐developing group. Within Prader‐Willi syndrome, puzzle proficiency was not predicted by age, IQ, gender, degree of obesity, or obsessive‐compulsive symptoms, but by genetic subtypes of this disorder. Conclusions: Findings are discussed in relation to splinter skills in autism, and to cases with autism and chromosome 15 anomalies that include the Prader‐Willi region.
Williams syndrome (WS) is a neurodevelopmental genetic disorder associated with high rates of anxiety and social issues. We examined diurnal cortisol, a biomarker of the stress response, in adults with WS in novel and familiar settings, and compared these profiles to typically developing (TD) adults. WS and TD participants had similar profiles in a familiar setting, while participants with WS had elevated cortisol late in the day in the novel setting when social demands were higher. The cortisol awakening response in WS was associated with parent-reported levels of somatic complaints and social difficulties. Results suggest that adults with WS have a typical diurnal cortisol profile that may be sensitive to social and activity transitions throughout the day.
Individuals with Down Syndrome (DS) are reported to experience early onset of brain aging. However, it is not well understood how pre-existing neurodevelopmental effects versus neurodegenerative processes might be contributing to the observed pattern of brain atrophy in younger adults with DS. The aims of the current study were to: (1) to confirm previous findings of age-related changes in DS compared to adults with typical development (TD), (2) to test for an effect of these age-related changes in a second neurodevelopmental disorder, Williams syndrome (WS), and (3) to identify a pattern of regional age-related effects that are unique to DS.High-resolution T1-weighted MRI of the brains of subjects with DS, WS, and TD controls were segmented, and estimates of regional brain volume were derived using FreeSurfer. A general linear model was employed to test for age-related effects on volume between groups. Secondary analyses in the DS group explored the relationship between brain volume and neuropsychological tests and APOE.Consistent with previous findings, the DS group showed significantly greater age-related effects relative to TD controls in total gray matter and in regions of the orbitofrontal cortex and the parietal cortex. Individuals with DS also showed significantly greater age-related effects on volume of the left and right inferior lateral ventricles (LILV and RILV, respectively). There were no significant differences in age-related effects on volume when comparing the WS and TD groups. In the DS group, cognitive tests scores measuring signs of dementia and APOE ϵ4 carrier status were associated with LILV and RILV volume.Individuals with DS demonstrated a unique pattern of age-related effects on gray matter and ventricular volume, the latter of which was associated with dementia rating scores in the DS group. Results may indicate that early onset of brain aging in DS is primarily due to DS-specific neurodegenerative processes, as opposed to general atypical neurodevelopment.
