Showing papers by "Marieke C. J. Dekker published in 2004"
TL;DR: In evaluating ADHD symptomatology, it is important to obtain independent reports about the child’s behaviour at school from the teacher andAbout the child's behaviour at home from the parents, as well as to separate sources of observer and situational variance.
Abstract: The aim of this study was to separate sources of observer and situational variance in reporting attentiondeficit/hyperactivity disorder (ADHD) symptomatology. In a sample of 30 children diagnosed with ADHD, ADHD symptomatology was assessed with the Diagnostic Interview Schedule for Children–Parent Version (DISC-P), with parents and teachers as informants. Both parents and teachers reported about the child’s ADHD symptomatology at home as well as at school. Parents and teachers showed high within-observer cross-situational presence of ADHD symptoms. However, the between-observer agreement on the presence of ADHD symptoms within the same situation (home or school) was low. This pattern held equally true for attention/concentration and hyperactivity/impulsivity symptom scores. In evaluating ADHD symptomatology, it is important to obtain independent reports about the child’s behaviour at school from the teacher and about the child’s behaviour at home from the parents.
66 citations
TL;DR: Mutations in the DJ-1 gene lead to autosomal recessive early-onset parkinsonism, with reduced F-DOPA uptake concordant with typical Parkinson’s disease and in the, clinically unaffected, heterozygous relatives, F- DOPA metabolism was unremarkable, thus not suggesting a dosage effect of the DJThe1 gene.
Abstract: Mutations in the DJ-1 gene lead to autosomal recessive early-onset parkinsonism. We performed F-DOPA and FDG PET neuroimaging in two parkinsonism patients homozygous for DJ-1 mutations, three relatives heterozygous for a DJ-1 mutation and one non-carrier, all from the originally described kindred from The Netherlands. Their characteristics were compared to those of typical Parkinson's disease patients and healthy controls. Both parkinsonism patients had reduced F-DOPA uptake concordant with typical Parkinson's disease. In the, clinically unaffected, heterozygous relatives, F-DOPA metabolism was unremarkable, thus not suggesting a dosage effect of the DJ-1 gene.
54 citations
TL;DR: Analysis of hand‐bone length showed incomplete segregation of the PARK7 region with brachydactyly, such that a gene in PARK7 is unlikely to fully explain the brachysyllte, however, the parkinsonism region may contain a modifier gene for growth.
Abstract: In a Dutch kindred we have identified a deletion of the DJ-1 gene, leading to autosomal-recessive parkinsonism. The parkinsonism patients also had short stature and brachydactyly. In the family and a control group from the same community, we used the DJ-1 deletion as a marker for the originally linked PARK7 region and found a significant association with body height (P = 0.005), which suggests a gene in linkage disequilibrium with DJ-1 to be implicated in short stature. Analysis of hand-bone length showed incomplete segregation of the PARK7 region with brachydactyly, such that a gene in PARK7 is unlikely to fully explain the brachydactyly. Since the bone length reduction was more pronounced in the homozygous parkinsonism patients than in their heterozygous relatives, however, the PARK7 region may contain a modifier gene for growth.
16 citations
TL;DR: It is unlikely that haploinsufficiency in the DJ-1 gene imparts an increased risk for dementia, as indicated by the presence of a 14 kb deletion in 191 patients with dementia.
9 citations