Learn More
The cloning of the FMR1 gene enables molecular diagnosis in patients and in carriers (male and female) of this X-linked mental retardation disorder. Unlike most X-linked disorders, a considerable proportion of the female carriers of a full mutation of the FMR1 gene is affected. In this study, the intelligence quotients (IQs) were ascertained by the Wechsler(More)
Rett syndrome (RTT) is a neurodevelopmental disorder which is diagnosed clinically. We report on 30 adolescent and adult females with classical or atypical RTT of whom 24 have a MECP2 mutation. In these 24 females, the clinical manifestations, degree of severity, and disorder profiles are discussed as well as the genotype phenotype correlation. After(More)
In this study we document the behavioral/emotional problems of 27 Prader-Willi syndrome (PWS) subjects assessed with the Achenbach Child Behaviour Checklist. Compared with normal subjects of the same age and sex, PW subjects showed significantly more problem behaviour. Of the PWS subjects 87% had total problem scores in the clinical range. No significant(More)
BACKGROUND Little is known about behavioural flexibility in children and adults with Angelman syndrome and whether people with this syndrome have more or less problems in being behaviourally flexible as compared with other people. METHOD Behavioural flexibility scores were assessed in 129 individuals with Angelman syndrome using 11 items from the(More)
Sleeping problems are common among developmentally disabled children of young age and they may have adverse effects on the well-being of both child and parents. In the present study, results from functional assessment with four children suggested that sleeping problems were reinforced by parental attention whilst an undiagnosed seizure disorder was(More)
The fragile X mental retardation syndrome is caused by unstable expansion of a CGG repeat in the FMR-1 gene. Clinical expression is associated with a large expansion of the CGG repeat. The mutation in the FMR-1 gene and the cytogenetic expression of the fragile site at Xq27.3 have been studied in 52 fragile X male patients. The percentage of the cytogenetic(More)
From a series of 107 females with Rett syndrome (RTT), we describe the long-term history of ten females with a deletion in the C-terminus of the MECP2 gene. We observed that their disorder profile is clinically recognizable with time and different from other atypical and milder RTT phenotypes. In females with hot spot deletions in the C-terminus, dystonia(More)
BACKGROUND 22q11 deletion syndrome (22q11DS) is associated with mild or borderline intellectual disability (ID). There are hardly any reports on subjects with 22q11DS with moderate or severe ID, and therefore its behavioural and psychiatric characteristics are unknown. METHOD We describe behavioural and psychiatric characteristics of 33 adults with(More)
Longitudinal decline in IQ among fragile X males was reported recently. However, there are problems in retesting IQ that may affect scores. Two such factors are intertest time interval and score obtained on the first test. To determine the generality of IQ score changes, we examined 101 fragile X males from 6 centers. To ensure high test-retest reliability,(More)
The aim of the present study was to add to the delineation of the prevalence and nature of language difficulties in Prader-Willi syndrome (PWS). Subjects of this study were 32 Dutch speaking individuals (20 males, 12 females), with chronological ages ranging from 4;6 to 29,5 and total IQ ranging from 40 to 94. Spontaneous speech samples were subjected to a(More)