Psychosocial and Socioeconomic Factors in Children with Neurofibromatosis Type 1

2021 ◽  
Author(s):  
Katalin Leppich ◽  
Joanna Schneider ◽  
Angela M. Kaindl ◽  
Caroline Eismann ◽  
Monika Ryczek ◽  
...  
Keyword(s):  
Socioeconomic Factors ◽  
Developmental Delay ◽  
Neurofibromatosis Type 1 ◽  
Parental Education ◽  
Neurofibromatosis Type ◽  
Autism Spectrum ◽  
Learning Disorders ◽  
Low Education ◽  
Sporadic Cases

AbstractThe aim of this study is to analyze whether children with familial and sporadic neurofibromatosis type 1 (NF1) differ in psychosocial and socioeconomic aspects such as developmental delay as well as in comorbidities. Medical records of 250 children with NF1 at a median age of 10.6 years (range = 2–20 years at time of data collection) were retrospectively reviewed. Specifically, psychosocial and socioeconomic factors from 88 children with a family history for NF1 and 162 sporadic cases were compared. Comparing IQ, familial cases scored significantly lower than sporadic cases (89.8 vs. 96.5; p = 0.015). IQ scores of children with familial and sporadic NF1 differ depending on level of parental education (mean IQ for high education 101.3 [familial] and 102.8 [sporadic] vs. low education 87.5 [familial] and 90.4 [sporadic]; p < 0.001). No significant differences were found regarding the presence of developmental delay, learning disorders, autism spectrum disorder, or attention deficit hyperactivity disease. Children with inherited NF1 had a significantly lower IQ than sporadic cases. Children with familial NF1 more often had parents with a lower level of education, highlighting a possible impact of NF1 through generations. Also, the present study confirmed previous results in literature regarding high frequencies of learning disabilities, autism spectrum disease, and attention deficits in children with NF1.

Neurofibromatosis Type 1 and Autism Spectrum Disorder

PEDIATRICS ◽  
2013 ◽  
Vol 132 (6) ◽  
pp. e1642-e1648 ◽  
Author(s):  
S. Garg ◽  
J. Green ◽  
K. Leadbitter ◽  
R. Emsley ◽  
A. Lehtonen ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1)

2018 ◽  
Vol 48 (7) ◽  
pp. 2278-2285 ◽  
Author(s):  
S. Eijk ◽  
S. E. Mous ◽  
G. C. Dieleman ◽  
B. Dierckx ◽  
A. B. Rietman ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Unselected Cohort

Prevalence of Autism Spectrum Disorder symptoms in children with neurofibromatosis type 1

2014 ◽  
Vol 168 (1) ◽  
pp. 72-80 ◽  
Author(s):  
Ellen Plasschaert ◽  
Mie-Jef Descheemaeker ◽  
Lien Van Eylen ◽  
Ilse Noens ◽  
Jean Steyaert ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals REiNS: Recommendations for Social Skills Endpoints for Clinical Trials in Neurofibromatosis Type 1

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012422
Author(s):  
Jennifer A. Janusz ◽  
Bonita P. Klein-Tasman ◽  
Jonathan M. Payne ◽  
Pamela L. Wolters ◽  
Heather L. Thompson ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Social Skills ◽  
Social Functioning ◽  
Neurofibromatosis Type 1 ◽  
Rating Scale ◽  
Neurofibromatosis Type ◽  
Autism Spectrum ◽  
The Social ◽  
Two Measures

Objective:We reviewed parent-report social skills measures to identify and recommend consensus outcomes for use in clinical trials of social deficit in children and adolescents (ages 6-18 years) with Neurofibromatosis Type 1 (NF1).Method:Searches were conducted via PubMed and ClinicalTrials.gov to identity social skills outcome measures with English language versions used in clinical trials in the past 5 years with populations with known social skills deficits, including Attention-Deficit/Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD). Measures were rated by the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) Neurocognitive Committee on patient characteristics, use in published studies, domains assessed, availability of standard scores, psychometric properties, and feasibility to determine their appropriateness for use in NF1 clinical trials.Results:Two measures were ultimately recommended by the committee – the Social Responsiveness Scale-2 (SRS-2) and the Social Skills Improvement System- Rating Scale (SSIS-RS).Conclusions:Each of the two measures assesses different aspects of social functioning. The SSIS-RS is appropriate for studies focused on broader social functioning, while the SRS-2 is best for studies targeting problematic social behaviors associated with ASD. Researchers will need to consider the goals of their study when choosing a measure, and specific recommendations for their use are provided.

Executive dysfunction in children with neurofibromatosis type 1: A study of action planning

2010 ◽  
Vol 16 (6) ◽  
pp. 1056-1063 ◽  
Author(s):  
ARNAUD ROY ◽  
JEAN-LUC ROULIN ◽  
VALERIE CHARBONNIER ◽  
PHILIPPE ALLAIN ◽  
LUCIANO FASOTTI ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Parental Education ◽  
Action Planning ◽  
Executive Dysfunction ◽  
Neurofibromatosis Type ◽  
Learning Problems ◽  
Parental Education Level ◽  
Determining Factors ◽  
Age Range

AbstractIn this study, we tested the hypothesis that action planning is impaired in children with neurofibromatosis type 1 (NF1). Thirty-six children with NF1 were pair-matched to 36 healthy controls (HC) on age (range, 7–12 years), sex, and parental education level, and both groups were administered three action-planning tasks. To examine the relation of task performance to attention deficit hyperactivity disorder (ADHD), the NF1 group was divided into subsets of children who met or did not meet criteria for ADHD. Children with NF1 performed less well than HC on all planning tasks, and differences remained when controlling for IQ or a measure of visuospatial skill. Both the NF1 with ADHD subset and NF1 without ADHD subset performed more poorly than HC on two of the tasks, whereas only the NF1 with ADHD subset performed worse than HC on the third planning task. The results underscore the importance of evaluating executive function in children with NF1 and suggest that deficits in this domain may be only partially related to ADHD. Planning deficits in children with NF1 may be part of their cognitive phenotype. Identifying these deficits is relevant in determining factors contributing to learning problems and in developing appropriate interventions. (JINS, 2010, 16, 1056–1063.)

Sign in / Sign up

Export Citation Format

Share Document