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Published (Version of record)CC BY V4.0, Open Access
Published (Version of record)CC BY V4.0, Open
Journal article
Delineating the autistic phenotype in children with neurofibromatosis type 1
Molecular autism, Vol.13, 3
04/01/2022
PMID: 34983638
Appears in Recent Faculty of Health Publications
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Abstract
Background
Existing research has demonstrated elevated autistic behaviours in children with neurofibromatosis type 1 (NF1), but the autistic phenotype and its relationship to other neurodevelopmental manifestations of NF1 remains unclear. To address this gap, we performed detailed characterisation of autistic behaviours in children with NF1 and investigated their association with other common NF1 child characteristics.
Methods
Participants were drawn from a larger cross-sectional study examining autism in children with NF1. The population analysed in this study scored above threshold on the Social Responsiveness Scale-Second Edition (T-score ≥ 60; 51% larger cohort) and completed the Autism Diagnostic Interview-Revised (ADI-R) and/or the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). All participants underwent evaluation of their intellectual function, and behavioural data were collected via parent questionnaires.
Results
The study cohort comprised 68 children (3–15 years). Sixty-three per cent met the ADOS-2 ‘autism spectrum’ cut-off, and 34% exceeded the more stringent threshold for ‘autistic disorder’ on the ADI-R. Social communication symptoms were common and wide-ranging, while restricted and repetitive behaviours (RRBs) were most commonly characterised by ‘insistence on sameness’ (IS) behaviours such as circumscribed interests and difficulties with minor changes. Autistic behaviours were weakly correlated with hyperactive/impulsive attention deficit hyperactivity disorder (ADHD) symptoms but not with inattentive ADHD or other behavioural characteristics. Language and verbal IQ were weakly related to social communication behaviours but not to RRBs.
Limitations
Lack of genetic validation of NF1, no clinical diagnosis of autism, and a retrospective assessment of autistic behaviours in early childhood.
Conclusions
Findings provide strong support for elevated autistic behaviours in children with NF1. While these behaviours were relatively independent of other NF1 comorbidities, the importance of taking broader child characteristics into consideration when interpreting data from autism-specific measures in this population is highlighted. Social communication deficits appear similar to those observed in idiopathic autism and are coupled with a unique RRB profile comprising prominent IS behaviours. This autistic phenotype and its relationship to common NF1 comorbidities such as anxiety and executive dysfunction will be important to examine in future research. Current findings have important implications for the early identification of autism in NF1 and clinical management.
Details
- Title
- Delineating the autistic phenotype in children with neurofibromatosis type 1
- Creators
- Anita K. Chisholm - Murdoch Children's Research InstituteKristina M. Haebich - Murdoch Children's Research InstituteNatalie A. Pride - Children's Hospital at WestmeadKarin S. Walsh - Center for Neuroscience and Behavioral Medicine, Children’s National Hospital (Washington, USA)Francesca Lami - Murdoch Children's Research InstituteAlex Ure - Monash Children’s HospitalTiba Maloof - Royal Children's HospitalAmanda Brignell - Australian Regenerative Medicine InstituteMelissa Rouel - Children's Hospital at WestmeadYael Granader - Center for Neuroscience and Behavioral Medicine, Children’s National Hospital (Washington, USA)Alice Maier - Murdoch Children's Research InstituteBelinda Barton - Children's Hospital at WestmeadHayley Darke - Murdoch Children's Research InstituteGabriel Dabscheck - Royal Children's HospitalVicki A. Anderson - Murdoch Children's Research InstituteKatrina Williams - Monash Children’s HospitalKathryn N. North - University of MelbourneJonathan M. Payne - University of Melbourne
- Publication Details
- Molecular autism, Vol.13, 3
- Publisher
- BioMed Central
- Grant note
- This work was supported by a US Department of Defense Investigator Initiated Research Award, Neurofbromatosis Research Program (W81XWH-15-1-0619), a National Health and Medical Research Council (NHMRC) scholarship awarded to author AKC, a NHMRC Senior Practitioner Fellowship awarded to VAA, a Murdoch Children’s Research Institute Clinician Scientist Fellowship awarded to JMP, and the Victorian Government Operational Infrastructure Scheme.
- Identifiers
- 991013093611902368
- Copyright
- © The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, (http://creativecommons.org/licenses/by/4.0/).
- Academic Unit
- Faculty of Health
- Language
- English
- Resource Type
- Journal article