Abstract
Introduction Children 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 analysis This 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 dissemination This study has hospital ethics approval and the results will be disseminated through peer-reviewed publications and international conferences.
| Original language | English |
|---|---|
| Article number | e030601 |
| Number of pages | 12 |
| Journal | BMJ Open |
| Volume | 9 |
| Issue number | 9 |
| DOIs | |
| Publication status | Published - 1 Sep 2019 |
Keywords
- Autism spectrum disorder
- Magnetic resonance imaging
- Neurofibromatosis type 1
- Social cognition
- Social functioning
Cite this
}
Understanding autism spectrum disorder and social functioning in children with neurofibromatosis type 1 : Protocol for a cross-sectional multimodal study. / Haebich, Kristina M.; Pride, Natalie A.; Walsh, Karin S.; Chisholm, Anita; Rouel, Melissa; Maier, Alice; Anderson, Vicki; Barton, Belinda; Silk, Tim; Korgaonkar, Mayuresh; Seal, Marc; Lami, Francesca; Lorenzo, Jennifer; Williams, Katrina; Dabscheck, Gabriel; Rae, Caroline D.; Kean, Michael; North, Kathryn N.; Payne, Jonathan M.
In: BMJ Open, Vol. 9, No. 9, e030601, 01.09.2019.Research output: Contribution to journal › Article › Other › peer-review
TY - JOUR
T1 - Understanding autism spectrum disorder and social functioning in children with neurofibromatosis type 1
T2 - Protocol for a cross-sectional multimodal study
AU - Haebich, Kristina M.
AU - Pride, Natalie A.
AU - Walsh, Karin S.
AU - Chisholm, Anita
AU - Rouel, Melissa
AU - Maier, Alice
AU - Anderson, Vicki
AU - Barton, Belinda
AU - Silk, Tim
AU - Korgaonkar, Mayuresh
AU - Seal, Marc
AU - Lami, Francesca
AU - Lorenzo, Jennifer
AU - Williams, Katrina
AU - Dabscheck, Gabriel
AU - Rae, Caroline D.
AU - Kean, Michael
AU - North, Kathryn N.
AU - Payne, Jonathan M.
PY - 2019/9/1
Y1 - 2019/9/1
N2 - Introduction Children 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 analysis This 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 dissemination This study has hospital ethics approval and the results will be disseminated through peer-reviewed publications and international conferences.
AB - Introduction Children 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 analysis This 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 dissemination This study has hospital ethics approval and the results will be disseminated through peer-reviewed publications and international conferences.
KW - Autism spectrum disorder
KW - Magnetic resonance imaging
KW - Neurofibromatosis type 1
KW - Social cognition
KW - Social functioning
UR - http://www.scopus.com/inward/record.url?scp=85072694722&partnerID=8YFLogxK
U2 - 10.1136/bmjopen-2019-030601
DO - 10.1136/bmjopen-2019-030601
M3 - Article
C2 - 31558455
AN - SCOPUS:85072694722
VL - 9
JO - BMJ Open
JF - BMJ Open
SN - 2044-6055
IS - 9
M1 - e030601
ER -