Previous evidence suggests that language function is modulated by genetic variants on chromosome 7q31-36. However, it is unclear whether this region harbors loci that contribute to speech delay in autism. We previously reported that the WNT2 gene located on 7q31 was associated with the risk of autism. Additionally, two other genes on 7q31-36,…

The prevalence of sleep problems in individuals with intellectual disability (ID) seems to vary between genetic syndromes associated with ID. Different types of sleep disturbances may indicate underlying causes of sleep problems and these types of sleep disturbances may vary between different genetic syndromes. We examined and compared five types…

Ligament laxity in Ehlers-Danlos syndrome hypermobility type (EDS-HT) patients can influence the intrinsic information about posture and movement and can have a negative effect on the appropriateness of postural reactions. Several measures have been proposed in literature to describe the planar migration of CoP over the base of support, and the…

The aim was to investigate the hemodynamic responses to isometric handgrip exercise (HG) and examine the role of the muscle metaboreflex in the exercise pressor response in individuals with intellectual disability (IID) and non-disabled control subjects. Eleven males with mild-moderate intellectual disabilities and eleven non-disabled males…

A variety of technology-aided programs have been developed to help persons with congenital or acquired multiple disabilities access preferred stimuli or choose among stimulus options. The application of those programs may pose problems when the participants have very limited behavior repertoires and are unable to use conventional responses and…

The aim of this study was to investigate orthostatic reactions in females with Rett syndrome (RTT), and also whether the severity of the syndrome had an impact on autonomic reactions. Based on signs of impaired function of the central autonomic system found in RTT, it could be suspected that orthostatic reactions were affected. The orthostatic…

Rett syndrome (RTT) is a neurodevelopmental disorder, including autonomic nervous system dysfunctions and severe communication impairment with an extremely limited ability to use verbal language. These individuals are therefore dependent on the capacity of caregivers to observe and interpret communicative signals, including emotional expressions.…

The developmental disorder of Williams syndrome (WS) is associated with an overfriendly personality type, including an increased tendency to approach strangers. This atypical social approach behaviour (SAB) has been linked to two potential theories: the amygdala hypothesis and the frontal lobe hypothesis. The current study aimed to investigate…

We delineated the achievement of early speech-language milestones in 15 young children with Rett syndrome ("MECP2" positive) in the first two years of life using retrospective video analysis. By contrast to the commonly accepted concept that these children are normal in the pre-regression period, we found markedly atypical development of…

Based on previous findings of frequent sleep problems in children with Down syndrome (DS) and Williams syndrome (WS), the present study aimed to expand our knowledge by using parent report and actigraphy to define sleep problems more precisely in these groups. Twenty-two school-aged children with DS, 24 with WS and 52 typically developing (TD)…

Sleep EEG alterations are emerging features of several developmental disabilities, but detailed quantitative EEG data on the sleep phenotype of patients with Williams syndrome (WS, 7q11.23 microdeletion) is still lacking. Based on laboratory (Study I) and home sleep records (Study II) here we report WS-related features of the patterns of…

The purpose of this investigation was to evaluate the effectiveness of a behavioral treatment package to reduce chronic sleep problems in children with Angelman Syndrome. Participants were five children, 2-11 years-of-age. Parents maintained sleep diaries to record sleep and disruptive nighttime behaviors. Actigraphy was added to provide…

Previous studies have shown that deficiencies in visuospatial perception and semantic processing in people with Williams syndrome (WS) are due to deficient central cohesiveness. Unlike previous studies that used abstract stimuli, this study used pictures to determine the relative ability of people with WS to integrate contextual information with…

The present study sought to examine the longitudinal psychoeducational, neurocognitive, and psychiatric outcomes of children and adolescents with chromosome 22q11.2 deletion syndrome (22q11DS), a population with a high incidence of major psychiatric illnesses appearing in late adolescence/early adulthood. Little is known of the developmental…

People with Williams syndrome (WS) are said to have sociable and extremely trusting personalities, approaching strangers without hesitation. This study investigated whether people with WS are less likely than controls to attribute negative intent to others when interpreting a series of ambiguous pictures. This may, at least partially, explain…