Delineating the autistic phenotype in children with neurofibromatosis type 1.

Chisholm, AK; Haebich, KM; Pride, NA; Walsh, KS; Lami, F; Ure, A; Maloof, T; Brignell, A; Rouel, M; Granader, Y; Maier, A; Barton, B; Darke, H; Dabscheck, G; Anderson, VA; Williams, K; North, KN; Payne, JM

Delineating the autistic phenotype in children with neurofibromatosis type 1.

Chisholm, AK Haebich, KM Pride, NA Walsh, KS Lami, F Ure, A Maloof, T Brignell, A Rouel, M

Granader, Y Maier, A Barton, B Darke, H Dabscheck, G Anderson, VA Williams, K North, KN Payne, JM

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Publisher:: Springer Nature
Publication Type:: Journal Article
Citation:: Mol Autism, 2022, 13, (1), pp. 3
Issue Date:: 2022-01-04

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Field	Value	Language
dc.contributor.author	Chisholm, AK
dc.contributor.author	Haebich, KM
dc.contributor.author	Pride, NA
dc.contributor.author	Walsh, KS
dc.contributor.author	Lami, F
dc.contributor.author	Ure, A
dc.contributor.author	Maloof, T
dc.contributor.author	Brignell, A
dc.contributor.author	Rouel, M https://orcid.org/0000-0002-2346-6247
dc.contributor.author	Granader, Y
dc.contributor.author	Maier, A
dc.contributor.author	Barton, B
dc.contributor.author	Darke, H
dc.contributor.author	Dabscheck, G
dc.contributor.author	Anderson, VA
dc.contributor.author	Williams, K
dc.contributor.author	North, KN
dc.contributor.author	Payne, JM
dc.date.accessioned	2023-02-13T02:28:12Z
dc.date.available	2021-12-14
dc.date.available	2023-02-13T02:28:12Z
dc.date.issued	2022-01-04
dc.identifier.citation	Mol Autism, 2022, 13, (1), pp. 3
dc.identifier.issn	2040-2392
dc.identifier.issn	2040-2392
dc.identifier.uri	http://hdl.handle.net/10453/166064
dc.description.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.
dc.format	Electronic
dc.language	eng
dc.publisher	Springer Nature
dc.relation.ispartof	Mol Autism
dc.relation.isbasedon	10.1186/s13229-021-00481-3
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	1103 Clinical Sciences, 1109 Neurosciences
dc.subject.mesh	Autistic Disorder
dc.subject.mesh	Child, Preschool
dc.subject.mesh	Cross-Sectional Studies
dc.subject.mesh	Humans
dc.subject.mesh	Neurofibromatosis 1
dc.subject.mesh	Phenotype
dc.subject.mesh	Retrospective Studies
dc.subject.mesh	Humans
dc.subject.mesh	Neurofibromatosis 1
dc.subject.mesh	Retrospective Studies
dc.subject.mesh	Cross-Sectional Studies
dc.subject.mesh	Autistic Disorder
dc.subject.mesh	Phenotype
dc.subject.mesh	Child, Preschool
dc.subject.mesh	Autistic Disorder
dc.subject.mesh	Child, Preschool
dc.subject.mesh	Cross-Sectional Studies
dc.subject.mesh	Humans
dc.subject.mesh	Neurofibromatosis 1
dc.subject.mesh	Phenotype
dc.subject.mesh	Retrospective Studies
dc.title	Delineating the autistic phenotype in children with neurofibromatosis type 1.
dc.type	Journal Article
utslib.citation.volume	13
utslib.location.activity	England
utslib.for	1103 Clinical Sciences
utslib.for	1109 Neurosciences
pubs.organisational-group	/University of Technology Sydney
pubs.organisational-group	/University of Technology Sydney/Faculty of Health
pubs.organisational-group	/University of Technology Sydney/Faculty of Health/Graduate School of Health
pubs.organisational-group	/University of Technology Sydney/Faculty of Health/Graduate School of Health/GSH.Clinical Psychology
utslib.copyright.status	open_access	*
dc.date.updated	2023-02-13T02:27:48Z
pubs.issue	1
pubs.publication-status	Published online
pubs.volume	13
utslib.citation.issue	1

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.

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http://hdl.handle.net/10453/166064