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Background: Sleep disorders are common in individuals with neurodevelopmental disorders and may adversely affect daytime functioning. Children with Williams syndrome have been reported to have disturbed sleep; however, no studies have been performed to determine if these problems continue into adolescence and adulthood., Methods: This study examined overnight sleep patterns and daytime sleepiness in 23 adolescents and adults with Williams syndrome age 25.5 (8.0) years [mean (SD)]. Interviewer-administered sleep questionnaires were used to evaluate nighttime sleep behaviours and daytime sleepiness. Wrist actigraphy was used to evaluate sleep patterns., Results: Although individuals in our sample averaged 9 h in bed at night, daytime sleepiness and measures of sleep disruption were common and comparable to those of other populations with neurodevelopmental disorders. These measures included reduced sleep efficiency [74.4 (7.0)%] with prolonged sleep latency [37.7 (37.3) min], increased wake time after sleep onset [56.1 (17.6) min], and an elevated movement and fragmentation index [14.3 (4.6)]., Conclusion: Adolescents and young adults with Williams syndrome were found to be sleepy despite averaging 9 h in bed at night. Implications are discussed for associated causes of sleep disruption and future polysomnographic evaluation.

Advances in genetics have led to an increased understanding of the role of the genotype on behavioural functioning. The purpose of the present study was to examine differences in intellectual functioning in individuals with Prader-Willi syndrome (PWS) with a paternal 15q11-q13 deletion versus maternal uniparental disomy (UPD) of chromosome 15. Measures of intelligence and academic achievement were administered to 38 individuals with PWS (24 with deletion and 14 with UPD). The subjects with UPD had significantly higher verbal IQ scores than those with deletion (P< 0.01). The magnitude of the difference in verbal IQ was 9.1 points (69.9 versus 60.8 for UPD and deletion PWS subjects, respectively). Only 17% of subjects with the 15q11-q13 deletion had a verbal IQ > or = 70, while 50% of those with UPD had a verbal IQ > or = 70. Performance IQ scores did not differ between the two PWS genetic subtype groups. This is the first report to document the difference between verbal and performance IQ score patterns among subjects with PWS of the deletion versus the UPD subtype.

The presence and severity of compulsive behaviours may be evaluated via the Compulsive Behaviour Checklist (CBC) and this instrument has been successfully employed in people with intellectual disability. However, the applicability of the overall CBC scoring system, which entails tallying the number of behavioural categories represented (i.e. five) as well as the number of individual behaviours endorsed (i.e. 25), is not known in the population with Prader-Willi syndrome (PWS). The present investigation examined the latent variable structure of the CBC in people with PWS in order to identify possible population-specific scoring and interpretation considerations. The 25 behaviour-specific items of the CBC were analysed for 75 people with PWS (44 females and 31 males) aged between 4 and 41 years (mean +/- SD = 11.4+/-9.4) via factor analysis with principal component extraction and equamax rotation. The most suitable solution was determined on the basis of multiple empirical criteria: (1) the scree test; (2) eigenvalues >1.00; (3) salient loadings >0.30; (4) the clarity of item assignment to a single latent dimension; (5) the internal consistency of the latent dimension(s) (coefficient alpha > or = 0.70); and (6) item-total correlations between 0.20 and 0.79. In addition, solutions were examined with respect to psychological theory and previous research. A 'general factor' (i.e. single latent dimension) solution which adhered to all a priori criteria was indicated. Twenty-four out of 25 items achieved salient loadings ranging from 0.46 to 0.80 on the general factor. The single item which failed to achieve salience, 'deviant grooming-skin picking', exhibited both substantial unique variance (0.997) and moderate reliability (r = 0.59, P<0.001). The internal consistency of the general factor was strong (alpha = 0.93) and all salient items were suitably correlated with the unit-weighted total score (r(item-total) = 0.41-0.77). The traditional CBC scoring system, which includes tallying the number of categories represented, would not be relevant in this PWS sample. In addition, the recommended tallying of the number of individual behaviours endorsed does not reflect the empirically indicated notion of compulsive behaviour in this special population. These findings indicate that the 24 salient items should be scored as a unit-weighted composite and that the score on the substantially unique item (skin picking) should be considered a separate measure when evaluating compulsive behaviours via the CBC in people with PWS.