Quantitative trait variation in ASD probands and toddler sibling outcomes at 24 months
Abstract Background Younger siblings of children with autism spectrum disorder (ASD) are at increased likelihood of receiving an ASD diagnosis and exhibiting other developmental concerns. It is unknown how quantitative variation in ASD traits and broader developmental domains in older siblings with...
| Main Authors: | , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2020-02-01
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| Series: | Journal of Neurodevelopmental Disorders |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s11689-020-9308-7 |
| _version_ | 1818623237154668544 |
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| author | Jessica B. Girault Meghan R. Swanson Shoba S. Meera Rebecca L. Grzadzinski Mark D. Shen Catherine A. Burrows Jason J. Wolff Juhi Pandey Tanya St John Annette Estes Lonnie Zwaigenbaum Kelly N. Botteron Heather C. Hazlett Stephen R. Dager Robert T. Schultz John N. Constantino Joseph Piven for the IBIS Network |
| author_facet | Jessica B. Girault Meghan R. Swanson Shoba S. Meera Rebecca L. Grzadzinski Mark D. Shen Catherine A. Burrows Jason J. Wolff Juhi Pandey Tanya St John Annette Estes Lonnie Zwaigenbaum Kelly N. Botteron Heather C. Hazlett Stephen R. Dager Robert T. Schultz John N. Constantino Joseph Piven for the IBIS Network |
| author_sort | Jessica B. Girault |
| collection | DOAJ |
| description | Abstract Background Younger siblings of children with autism spectrum disorder (ASD) are at increased likelihood of receiving an ASD diagnosis and exhibiting other developmental concerns. It is unknown how quantitative variation in ASD traits and broader developmental domains in older siblings with ASD (probands) may inform outcomes in their younger siblings. Methods Participants included 385 pairs of toddler siblings and probands from the Infant Brain Imaging Study. ASD probands (mean age 5.5 years, range 1.7 to 15.5 years) were phenotyped using the Autism Diagnostic Interview-Revised (ADI-R), the Social Communication Questionnaire (SCQ), and the Vineland Adaptive Behavior Scales, Second Edition (VABS-II). Siblings were assessed using the ADI-R, VABS-II, Mullen Scales of Early Learning (MSEL), and Autism Diagnostic Observation Schedule (ADOS) and received a clinical best estimate diagnosis at 24 months using DSM-IV-TR criteria (n = 89 concordant for ASD; n = 296 discordant). We addressed two aims: (1) to determine whether proband characteristics are predictive of recurrence in siblings and (2) to assess associations between proband traits and sibling dimensional outcomes at 24 months. Results Regarding recurrence risk, proband SCQ scores were found to significantly predict sibling 24-month diagnostic outcome (OR for a 1-point increase in SCQ = 1.06; 95% CI = 1.01, 1.12). Regarding quantitative trait associations, we found no significant correlations in ASD traits among proband-sibling pairs. However, quantitative variation in proband adaptive behavior, communication, and expressive and receptive language was significantly associated with sibling outcomes in the same domains; proband scores explained 9–18% of the variation in cognition and behavior in siblings with ASD. Receptive language was particularly strongly associated in concordant pairs (ICC = 0.50, p < 0.001). Conclusions Proband ASD symptomology, indexed by the SCQ, is a predictor of familial ASD recurrence risk. While quantitative variation in social communication and restricted and repetitive behavior were not associated among sibling pairs, standardized ratings of proband language and communication explained significant variation in the same domains in the sibling at 24 months, especially among toddlers with an ASD diagnosis. These data suggest that proband characteristics can alert clinicians to areas of developmental concern for young children with familial risk for ASD. |
| first_indexed | 2024-12-16T18:37:52Z |
| format | Article |
| id | doaj.art-e310c450f7e2469d9195292d1d9a6a98 |
| institution | Directory Open Access Journal |
| issn | 1866-1947 1866-1955 |
| language | English |
| last_indexed | 2024-12-16T18:37:52Z |
| publishDate | 2020-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Neurodevelopmental Disorders |
| spelling | doaj.art-e310c450f7e2469d9195292d1d9a6a982022-12-21T22:21:07ZengBMCJournal of Neurodevelopmental Disorders1866-19471866-19552020-02-0112111410.1186/s11689-020-9308-7Quantitative trait variation in ASD probands and toddler sibling outcomes at 24 monthsJessica B. Girault0Meghan R. Swanson1Shoba S. Meera2Rebecca L. Grzadzinski3Mark D. Shen4Catherine A. Burrows5Jason J. Wolff6Juhi Pandey7Tanya St John8Annette Estes9Lonnie Zwaigenbaum10Kelly N. Botteron11Heather C. Hazlett12Stephen R. Dager13Robert T. Schultz14John N. Constantino15Joseph Piven16for the IBIS NetworkCarolina Institute for Developmental Disabilities, University of North Carolina at Chapel HillDepartment of Psychology, School of Behavioral and Brain Sciences, University of Texas at DallasCarolina Institute for Developmental Disabilities, University of North Carolina at Chapel HillCarolina Institute for Developmental Disabilities, University of North Carolina at Chapel HillCarolina Institute for Developmental Disabilities, University of North Carolina at Chapel HillDepartment of Pediatrics, University of MinnesotaDepartment of Educational Psychology, University of MinnesotaCenter for Autism Research, Children’s Hospital of Philadelphia, University of Pennsylvania Perelman School of MedicineDepartment of Speech and Hearing Science, University of WashingtonDepartment of Speech and Hearing Science, University of WashingtonDepartment of Pediatrics, University of AlbertaMallinckrodt Institute of Radiology, Washington University School of MedicineCarolina Institute for Developmental Disabilities, University of North Carolina at Chapel HillDepartment of Radiology, University of Washington Medical CenterCenter for Autism Research, Children’s Hospital of Philadelphia, University of Pennsylvania Perelman School of MedicineDivision of Child Psychiatry, Department of Psychiatry, Washington University School of MedicineCarolina Institute for Developmental Disabilities, University of North Carolina at Chapel HillAbstract Background Younger siblings of children with autism spectrum disorder (ASD) are at increased likelihood of receiving an ASD diagnosis and exhibiting other developmental concerns. It is unknown how quantitative variation in ASD traits and broader developmental domains in older siblings with ASD (probands) may inform outcomes in their younger siblings. Methods Participants included 385 pairs of toddler siblings and probands from the Infant Brain Imaging Study. ASD probands (mean age 5.5 years, range 1.7 to 15.5 years) were phenotyped using the Autism Diagnostic Interview-Revised (ADI-R), the Social Communication Questionnaire (SCQ), and the Vineland Adaptive Behavior Scales, Second Edition (VABS-II). Siblings were assessed using the ADI-R, VABS-II, Mullen Scales of Early Learning (MSEL), and Autism Diagnostic Observation Schedule (ADOS) and received a clinical best estimate diagnosis at 24 months using DSM-IV-TR criteria (n = 89 concordant for ASD; n = 296 discordant). We addressed two aims: (1) to determine whether proband characteristics are predictive of recurrence in siblings and (2) to assess associations between proband traits and sibling dimensional outcomes at 24 months. Results Regarding recurrence risk, proband SCQ scores were found to significantly predict sibling 24-month diagnostic outcome (OR for a 1-point increase in SCQ = 1.06; 95% CI = 1.01, 1.12). Regarding quantitative trait associations, we found no significant correlations in ASD traits among proband-sibling pairs. However, quantitative variation in proband adaptive behavior, communication, and expressive and receptive language was significantly associated with sibling outcomes in the same domains; proband scores explained 9–18% of the variation in cognition and behavior in siblings with ASD. Receptive language was particularly strongly associated in concordant pairs (ICC = 0.50, p < 0.001). Conclusions Proband ASD symptomology, indexed by the SCQ, is a predictor of familial ASD recurrence risk. While quantitative variation in social communication and restricted and repetitive behavior were not associated among sibling pairs, standardized ratings of proband language and communication explained significant variation in the same domains in the sibling at 24 months, especially among toddlers with an ASD diagnosis. These data suggest that proband characteristics can alert clinicians to areas of developmental concern for young children with familial risk for ASD.https://doi.org/10.1186/s11689-020-9308-7AutismInfant siblingFamily studyLanguageCommunicationDevelopment |
| spellingShingle | Jessica B. Girault Meghan R. Swanson Shoba S. Meera Rebecca L. Grzadzinski Mark D. Shen Catherine A. Burrows Jason J. Wolff Juhi Pandey Tanya St John Annette Estes Lonnie Zwaigenbaum Kelly N. Botteron Heather C. Hazlett Stephen R. Dager Robert T. Schultz John N. Constantino Joseph Piven for the IBIS Network Quantitative trait variation in ASD probands and toddler sibling outcomes at 24 months Journal of Neurodevelopmental Disorders Autism Infant sibling Family study Language Communication Development |
| title | Quantitative trait variation in ASD probands and toddler sibling outcomes at 24 months |
| title_full | Quantitative trait variation in ASD probands and toddler sibling outcomes at 24 months |
| title_fullStr | Quantitative trait variation in ASD probands and toddler sibling outcomes at 24 months |
| title_full_unstemmed | Quantitative trait variation in ASD probands and toddler sibling outcomes at 24 months |
| title_short | Quantitative trait variation in ASD probands and toddler sibling outcomes at 24 months |
| title_sort | quantitative trait variation in asd probands and toddler sibling outcomes at 24 months |
| topic | Autism Infant sibling Family study Language Communication Development |
| url | https://doi.org/10.1186/s11689-020-9308-7 |
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