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.

scholarly journals Understanding autism spectrum disorder and social functioning in children with neurofibromatosis type 1: protocol for a cross-sectional multimodal study

BMJ Open ◽  
2019 ◽  
Vol 9 (9) ◽  
pp. e030601 ◽  
Author(s):  
Kristina M Haebich ◽  
Natalie A Pride ◽  
Karin S Walsh ◽  
Anita Chisholm ◽  
Melissa Rouel ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Social Functioning ◽  
Neurofibromatosis Type 1 ◽  
Social Cognitive ◽  
Neurofibromatosis Type ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Cross Sectional ◽  
Cognitive Phenotype

IntroductionChildren with the single-gene disorder neurofibromatosis type 1 (NF1) appear to be at an increased risk for autism spectrum disorder (ASD) and exhibit a unique social-cognitive phenotype compared with children with idiopathic ASD. A complete framework is required to better understand autism in NF1, from neurobiological levels through to behavioural and functional outcomes. The primary aims of this study are to establish the frequency of ASD in children with NF1, examine the social cognitive phenotype, investigate the neuropsychological processes contributing to ASD symptoms and poor social functioning in children with NF1, and to investigate novel structural and functional neurobiological markers of ASD and social dysfunction in NF1. The secondary aim of this study is to compare the neuropsychological and neurobiological features of ASD in children with NF1 to a matched group of patients with idiopathic ASD.Methods and analysisThis is an international, multisite, prospective, cross-sectional cohort study of children with NF1, idiopathic ASD and typically developing (TD) controls. Participants will be 200 children with NF1 (3–15 years of age), 70 TD participants (3–15 years) and 35 children with idiopathic ASD (7–15 years). Idiopathic ASD and NF1 cases will be matched on age, sex and intelligence. All participants will complete cognitive testing and parents will rate their child’s behaviour on standardised questionnaires. Neuroimaging will be completed by a subset of participants aged 7 years and older. Children with NF1 that screen at risk for ASD on the parent-rated Social Responsiveness Scale 2nd Edition will be invited back to complete the Autism Diagnostic Observation Scale 2nd Edition and Autism Diagnostic Interview-Revised to determine whether they fulfil ASD diagnostic criteria.Ethics and disseminationThis study has hospital ethics approval and the results will be disseminated through peer-reviewed publications and international conferences.

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

scholarly journals Clinical trial design in neurofibromatosis type 1 as a model for other tumor predisposition syndromes

2020 ◽  
Vol 2 (Supplement_1) ◽  
pp. i134-i140
Author(s):  
Andrea M Gross ◽  
Brigitte C Widemann
Keyword(s):  
Clinical Trials ◽  
Neurofibromatosis Type 1 ◽  
Clinical Trial Design ◽  
Neurofibromatosis Type ◽  
Lessons Learned ◽  
Benign Tumors ◽  
Pediatric Cancer Patients ◽  
Patient Reported ◽  
Trial Endpoints

Abstract Up to 10% of all pediatric cancer patients may have an underlying germline mutation which predisposed them to develop a malignancy. With more patients being tested for and diagnosed with genetic tumor predisposition syndromes, there has been improved characterization of their many nonmalignant manifestations. However, designing and implementing clinical trials to treat the nonmalignant tumor and non-tumor manifestations of these syndromes poses many unique challenges. Unlike trials for malignancies where tumor response and survival can be used as straightforward trial endpoints, the nonmalignant manifestations are often chronic, evolve more slowly over time, and may not be immediately life-threatening. Therefore, they will likely require a different approach to both testing and treatment with a focus on more functional and patient-reported outcome trial endpoints. The recent success of treatment trials for the benign tumors plexiform neurofibromas in the tumor predisposition syndrome neurofibromatosis type 1 (NF1) can be used as a model for the development of clinical trials in other tumor predisposition syndromes. In this article, we review the unique challenges associated with targeting the nonmalignant aspects of these conditions as well as some of the lessons learned from the NF1 experience which may be applied to other syndromes in the future.

Social functioning in adults with neurofibromatosis type 1

2013 ◽  
Vol 34 (10) ◽  
pp. 3393-3399 ◽  
Author(s):  
Natalie A. Pride ◽  
Hilda Crawford ◽  
Jonathan. M. Payne ◽  
Kathryn N. North
Keyword(s):  
Social Functioning ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

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
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