Delineating the autistic phenotype in children with neurofibromatosis type 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 character...
| Main Authors: | , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-01-01
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| Series: | Molecular Autism |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13229-021-00481-3 |
| _version_ | 1828146470046400512 |
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| author | Anita K. Chisholm Kristina M. Haebich Natalie A. Pride Karin S. Walsh Francesca Lami Alex Ure Tiba Maloof Amanda Brignell Melissa Rouel Yael Granader Alice Maier Belinda Barton Hayley Darke Gabriel Dabscheck Vicki A. Anderson Katrina Williams Kathryn N. North Jonathan M. Payne |
| author_facet | Anita K. Chisholm Kristina M. Haebich Natalie A. Pride Karin S. Walsh Francesca Lami Alex Ure Tiba Maloof Amanda Brignell Melissa Rouel Yael Granader Alice Maier Belinda Barton Hayley Darke Gabriel Dabscheck Vicki A. Anderson Katrina Williams Kathryn N. North Jonathan M. Payne |
| author_sort | Anita K. Chisholm |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-11T20:47:56Z |
| format | Article |
| id | doaj.art-17d84eaaf919467896a6e3156f7eb969 |
| institution | Directory Open Access Journal |
| issn | 2040-2392 |
| language | English |
| last_indexed | 2024-04-11T20:47:56Z |
| publishDate | 2022-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Autism |
| spelling | doaj.art-17d84eaaf919467896a6e3156f7eb9692022-12-22T04:03:58ZengBMCMolecular Autism2040-23922022-01-0113111710.1186/s13229-021-00481-3Delineating the autistic phenotype in children with neurofibromatosis type 1Anita K. Chisholm0Kristina M. Haebich1Natalie A. Pride2Karin S. Walsh3Francesca Lami4Alex Ure5Tiba Maloof6Amanda Brignell7Melissa Rouel8Yael Granader9Alice Maier10Belinda Barton11Hayley Darke12Gabriel Dabscheck13Vicki A. Anderson14Katrina Williams15Kathryn N. North16Jonathan M. Payne17Murdoch Children’s Research InstituteMurdoch Children’s Research InstituteKids Neuroscience Centre, The Children’s Hospital at WestmeadCenter for Neuroscience and Behavioral Medicine, Children’s National Hospital, Michigan Avenue NWMurdoch Children’s Research InstituteMurdoch Children’s Research InstituteDepartment of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of MelbourneMurdoch Children’s Research InstituteKids Neuroscience Centre, The Children’s Hospital at WestmeadCenter for Neuroscience and Behavioral Medicine, Children’s National Hospital, Michigan Avenue NWMurdoch Children’s Research InstituteKids Neuroscience Centre, The Children’s Hospital at WestmeadMurdoch Children’s Research InstituteMurdoch Children’s Research InstituteMurdoch Children’s Research InstituteMurdoch Children’s Research InstituteMurdoch Children’s Research InstituteMurdoch Children’s Research InstituteAbstract 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.https://doi.org/10.1186/s13229-021-00481-3AutismAutistic behavioursAutism Diagnostic Interview-Revised (ADI-R)Autism Diagnostic Observation Schedule-Second Edition (ADOS-2)Neurofibromatosis type 1 |
| spellingShingle | Anita K. Chisholm Kristina M. Haebich Natalie A. Pride Karin S. Walsh Francesca Lami Alex Ure Tiba Maloof Amanda Brignell Melissa Rouel Yael Granader Alice Maier Belinda Barton Hayley Darke Gabriel Dabscheck Vicki A. Anderson Katrina Williams Kathryn N. North Jonathan M. Payne Delineating the autistic phenotype in children with neurofibromatosis type 1 Molecular Autism Autism Autistic behaviours Autism Diagnostic Interview-Revised (ADI-R) Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) Neurofibromatosis type 1 |
| title | Delineating the autistic phenotype in children with neurofibromatosis type 1 |
| title_full | Delineating the autistic phenotype in children with neurofibromatosis type 1 |
| title_fullStr | Delineating the autistic phenotype in children with neurofibromatosis type 1 |
| title_full_unstemmed | Delineating the autistic phenotype in children with neurofibromatosis type 1 |
| title_short | Delineating the autistic phenotype in children with neurofibromatosis type 1 |
| title_sort | delineating the autistic phenotype in children with neurofibromatosis type 1 |
| topic | Autism Autistic behaviours Autism Diagnostic Interview-Revised (ADI-R) Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) Neurofibromatosis type 1 |
| url | https://doi.org/10.1186/s13229-021-00481-3 |
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