M-J Descheemaeker

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Prader-Willi syndrome (PWS) is a genetic disorder caused by the loss of the paternal contribution of the proximal part (15q11-q13) of the long arm of chromosome 15 (i.e. deletion, disomy and imprinting mutation). The syndrome is associated with distinct physical dysmorphism, as well as with specific behavioural and psychopathological characteristics.(More)
UNLABELLED In the present study the neuropsychological, academic and social-emotional profiles were examined in Neurofibromatosis type 1 (NF1) children. SUBJECTS 17 NF1 children (ages 7-11) with NF1 without serious medical problems and with a full scale IQ (FSIQ) above 70. METHODS Wechsler Intelligence Scale for Children-Revised (WISC-R), academic tests(More)
In a group of 28 children with neurofibromatosis type 1 aged between 4 and 16 years, neuroradiological findings were correlated with intelligence as measured by the Wechsler scales. The presence or specific location in the brain of T2 weighted prolonged signals on MRI was not associated with cognitive problems. No other physical characteristics associated(More)
Developmental testing (7 children, aged between 17 months and 4 years) and intelligence profile analysis (38 children, aged between 4 and 16 years) were performed in a group of 45 children with NF1 followed at the Leuven NF clinic. Mental retardation (total IQ < 70) was noted in 2 of the 38 children between 4 and 16 years (5.2%). The mean total IQ of this(More)
The Prader-Willi syndrome (PWS) is a genetically determined developmental disorder caused by abnormalities of the proximal region of chromosome 15q11-13. In a previous study, we reported that psychotic episodes, occurring in 16% of persons with PWS, had an onset in adolescence, never occurred in persons with paternal deletion, and were exclusively(More)
The Prader-Willi syndrome is characterized by four cardinal symptoms i.e. hypotonia, hypogonadism, mental retardation and extreme obesity. Behavioural and psychological problems are frequent in these patients, mostly related to the withholding of food and the necessity of diet control. A treatment program has been developed for their eating problems. The(More)
Angelman syndrome (AS) is a distinct neurogenetic disorder and the phenotype is well known in childhood and adolescence. However, with advancing age the clinical and behavioral phenotype changes. In adulthood, the phenotype can be rather aspecific. We report on AS in 3 severely to profoundly mentally retarded patients, who developed severe neurologic(More)
The personality profile of 44 youngsters (24 males, 20 females; mean age 11 years, 3 months) with neurofibromatosis type 1 (NF1) was compared with a group of 220 non-NF1 control youngsters (matched on age and gender). Personality characteristics of each youngster were rated by both parents, using the California Child Q-set (CCQ); [Block and Block, 1980].(More)