Objective. Neurofibromatosis type 1 (NF1) is a rare autosomal dominant single-gene disorder, primarily characterized by multiple (sub)cutaneous neurofibromas and café-au-lait macules. The cognitive...Show moreObjective. Neurofibromatosis type 1 (NF1) is a rare autosomal dominant single-gene disorder, primarily characterized by multiple (sub)cutaneous neurofibromas and café-au-lait macules. The cognitive profile of children with NF1 is hypothesised to be associated with deficits in three domains; visuospatial ability, executive function, learning and their interdependency. Between ages 11 and 15 years, an increase in PIQ was found in children with NF1. Because visuospatial abilities are strongly related to the level of PIQ as measured with the WISC-III-NL, the objective of this study was to find if improvement in visuospatial abilities in this course of age predicts this progress in PIQ. Methods. In a longitudinal design, 31 children with NF1 were assessed with the WISC-III-NL and a standardised battery of neuropsychological assessments at average age 11 and 15. In the statistical analyses the scores on the subtests of the WISC-III-NL constituting PIQ at age 11 and 15 were compared with paired t-tests and a repeated measures ANOVA. Next, five multivariable linear regression analyses were conducted with the increase in PIQ as the dependent variable and five neuropsychological constructs (visual and auditory attention, visuospatial ability, processing speed and fine motor skills) as the predictors. Results. Picture arrangement was the only WISC-III-NL subtest to increase between age 11 and 15, d = 1.04, p < .001. The repeated measures ANOVA resulted in a difference in improvement between the five WISC-III-NL subtest scores, p < .001. Visuospatial ability was the only neuropsychological construct that predicted the increase in PIQ, b = 1.22, p = .005. There was no correlation between improvement in picture arrangement and improvement in visuospatial ability. Conclusions. Improvement in visuospatial ability appears to predict increase in PIQ in children with NF1 between age 11 and 15. Further investigation is required to determine if these findings are replicable in larger sample sizes. Additionally, there is further research needed to explore variances in the amount of improvement observed across different visuospatial tasks. It may be possible that progress in executive function effects improvement in some visuospatial tasks. Implications are that executive functioning must be taken into account when interpreting (visuospatial) results from neuropsychological assessments in children with NF1, both in science and in the clinic.Show less
Het genetische syndroom Neurofibromatosis type 1 (NF1) kenmerkt zich door (plexiforme) fibromen, café-au-lait spots (CALS), oogproblemen en botafwijkingen, waarbij de symptomatologie sterk varieert...Show moreHet genetische syndroom Neurofibromatosis type 1 (NF1) kenmerkt zich door (plexiforme) fibromen, café-au-lait spots (CALS), oogproblemen en botafwijkingen, waarbij de symptomatologie sterk varieert. In de huidige studie is de impact van NF1 op de health-related quality of life (HRQOL) bepaald, waarbij ook de invloed van sekse, leeftijd en NF1-symptomatologie nader onderzocht zijn. De werving van participanten is gefaciliteerd door de Neurofibromatose Vereniging Nederland. Via hun website kon men online de vragenlijsten (TACQOL/TAAQOL en Ernstvragenlijst) invullen. Het aantal participanten betrof 7 kinderen en 48 adolescenten en volwassenen. Door middel van random selectie, met correctie voor leeftijd en geslacht, zijn referentiedata van chronisch zieken en gezonde volwassenen bij de NF1-data gevoegd. Bij kinderen zijn de totale referentiedata aangehouden. De resultaten bij kinderen tonen een negatieve invloed van NF1 aan op één HRQOL-domein (Zelfstandigheid). De impact bij volwassenen is beduidend sterker: de HRQOL is bij deze groep op alle domeinen lager dan bij gezonde mensen en op bijna de helft van de domeinen lager dan bij chronisch zieken. Daarnaast wordt aangetoond dat sekse geen invloed heeft op de HRQOL en leeftijd slecht een gering negatief effect heeft bij volwassenen met NF1. Uit het onderzoeksaspect van de NF1-symptomatologie blijkt dat botafwijkingen, grove en fijn motorisch functioneren, wervelkolom afwijkingen, hoofdpijn, macrocephalie en psychologische problemen een negatieve invloed hebben op de HRQOL. Verder onderzoek naar de HRQOL in combinatie met ernst wordt aanbevolen gezien bepaalde leeftijdsgroepen vrij klein zijn en sommige symptomatologie beperkt of juist bijna bij alle NF1-patiënten voorkomt in dit onderzoek.Show less
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects 1 in 3000 to 4560 people worldwide. The phenotype and the degree of severity of NF1 are highly variable. Symptoms...Show moreNeurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects 1 in 3000 to 4560 people worldwide. The phenotype and the degree of severity of NF1 are highly variable. Symptoms include café-au-lait macules, neurofibromas and Lisch noduli. The aim of this study was to explore the extent to which the disease severity is linked to social factors in the life of the adult with NF1, using regression and mediation analysis. Participants were 46 adults diagnosed with NF1 aged 22 tot 58 years. The data presented have resulted from questionnaires participants filled out online. Disease severity was associated with social skills and perceived social support. A more severe phenotype was associated with a lower score on social skills and was also associated with less perceived social support. Although disease severity and cognition did not correlate, cognition was also a predictor for social skills and perceived social support. A higher score on cognition was associated with a higher score on social skills. A higher score on cognition was also associated with a higher score on perceived social support. These results provide a better understanding of the social profile of adults with NF1 and offer guidelines for support.Show less
Neurofibromatose type 1 (NF1) is een autosomaal dominante, multisysteem aandoening met cutane, lichamelijke en neurologische symptomen. In deze studie is onderzoek gedaan naar cognitieve...Show moreNeurofibromatose type 1 (NF1) is een autosomaal dominante, multisysteem aandoening met cutane, lichamelijke en neurologische symptomen. In deze studie is onderzoek gedaan naar cognitieve vaardigheden, sociaal functioneren en gedrag bij kinderen met NF1. Daarnaast is onderzocht of gedragsproblemen verklaard kunnen worden door cognitie. 21 kinderen gediagnosticeerd met NF1 en 19 controles, in de leeftijd van 8 tot 19 jaar, werden geïncludeerd. Kinderen met NF1 hebben significant meer autistiforme trekken, tekorten in cognitief functioneren en internaliserende en externaliserende problemen. ANCOVA tests wezen uit dat alle sociale- en gedragsverschillen verklaard kunnen worden door cognitie, behalve autistiforme trekken. Het versterken van de executieve functies zou mogelijk een goede ingang zijn voor behandeling.Show less
Research master thesis | Developmental Psychopathology in Education and Child Studies (research) (MSc)
open access
2016-10-29T00:00:00Z
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder associated with multiple cutaneous, physical and neurological symptoms. The aim of this study was to validate current NF1...Show moreNeurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder associated with multiple cutaneous, physical and neurological symptoms. The aim of this study was to validate current NF1 severity scales using PCA, and relating the NF1 severity scale and components to cognitive and behavioural outcomes. Participants were 18 children diagnosed with NF1 aged 8 to 16 years. The PCA showed that NF1 symptoms could be divided into neurological and appearance symptoms. The presence of more neurological symptoms was associated with a lower score on the task Comprehension. More symptoms in the appearance were associated with less assertiveness. A higher total number of NF1 symptoms was negatively related to the scale meta-cognition of the BRIEF, indicating poorer executive functioning in daily life for children with more NF1 symptoms. Also, elevated autistic traits were observed using the SRS, and poorer emotion recognition as measured with the ANT. Together, these results might indicate that children with NF1 share a neuropsychological profile commonly seen in children with ASD, which might be related to neurological symptoms.Show less
