86 research outputs found
From hospital to home care: A randomized controlled trial of a pain education programme for cancer patients with chronic pain
The implementation of a pain monitoring programme for nurses in 1 daily clinical practice: Results of a follow-up study in five hospitals
Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1
Purpose: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder associated with cognitive deficits. The NF1 cognitive phenotype is generally considered to be highly variable, possibly due to the observed T2-weighted hyperintensities, loss of heterozygosity, NF1-specific genetic modifiers, or allelic imbalance. Methods: We investigated cognitive variability and assessed the contribution of genetic factors by performing a retrospective cohort study and a monozygotic twin case series. We included data of 497 children with genetically confirmed NF1 and an IQ assessment, including 12 monozygotic twin and 17 sibling sets. Results: Individuals carrying an NF1 chromosomal microdeletion showed significant lower full-scale IQ (FSIQ) scores than individuals carrying intragenic pathogenic NF1 variants. For the intragenic subgroup, the variability in cognitive ability and the correlation of IQ between monozygotic NF1 twin pairs or between NF1 siblings is similar to the general population. Conclusions: The variance and heritability of IQ in individuals with NF1 are similar to that of the general population, and hence mostly driven by genetic background differences. The only factor that significantly attenuates IQ in NF1 individuals is the NF1 chromosomal microdeletion genotype. Implications for clinical management are that individuals with intragenic NF1 variants that score <1.5–2 SD below the mean of the NF1 population should be screened for additional causes of cognitive disability
Reliability and validity of functional health status and health-related quality of life questionnaires in children with recurrent acute otitis media
Pijn bij kanker en wat er aan te doen is. Effecten van een pijn instructie programma bij kankerpatiënten met langdurige pijnklachten
Jantje lacht, Jantje huilt. Nieuwste ontwikkelingen bij pijnmeting en pijnbestrijding bij kinderen
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