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Rare variants in th...
Rare variants in the outcome of social skills group training for autism
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- Li, Danyang (författare)
- Karolinska Institutet
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- Choque Olsson, Nora (författare)
- Stockholms universitet,Klinisk psykologi,Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet and Child and Adolescent Psychiatry, Stockholm Health Care Services, Stockholm County Council, Stockholm, Sweden; Department of Psychology, Stockholm University, Stockholm, Sweden; Center for Psychiatry Research, Department of Clinical Neuroscience, Karolinska Institutet and Stockholm Health Care Services, Stockholm County Council, Stockholm, Sweden
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- Becker, Martin (författare)
- Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet and Child and Adolescent Psychiatry, Stockholm Health Care Services, Stockholm County Council, Stockholm, Sweden; Astrid Lindgren Children's Hospital, Karolinska University Hospital, Region Stockholm, Solna, Sweden
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- Arora, Abishek (författare)
- Karolinska Institutet
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- Jiao, Hong (författare)
- Karolinska Institutet
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- Norgren, Nina (författare)
- Umeå universitet,Institutionen för molekylärbiologi (Medicinska fakulteten)
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- Jonsson, Ulf, 1974- (författare)
- Uppsala universitet,Karolinska Institutet,Ramklint: Barn- och ungdomspsykiatri
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- Bolte, Sven (författare)
- Karolinska Institutet
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- Tammimies, Kristiina (författare)
- Karolinska Institutet
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(creator_code:org_t)
- 2021-12-30
- 2022
- Engelska.
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Ingår i: Autism Research. - : Wiley. - 1939-3792 .- 1939-3806. ; 15:3, s. 434-446
- Relaterad länk:
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Abstract
Ämnesord
Stäng
- Exome sequencing has been proposed as the first-tier genetic testing in autism spectrum disorder (ASD). Here, we performed exome sequencing in autistic individuals with average to high intellectual abilities (N = 207) to identify molecular diagnoses and genetic modifiers of intervention outcomes of social skills group training (SSGT) or standard care. We prioritized variants of clinical significance (VCS), variants of uncertain significance (VUS) and generated a pilot scheme to calculate genetic scores of rare and common variants in ASD-related gene pathways. Mixed linear models were used to test the association between the carrier status of VCS/VUS or the genetic scores with intervention outcomes measured by the social responsiveness scale. Additionally, we combined behavioral and genetic features using a machine learning (ML) model to predict the individual response. We showed a rate of 4.4% and 11.3% of VCS and VUS in the cohort, respectively. Individuals with VCS or VUS had improved significantly less after standard care than non-carriers at post-intervention (β = 9.35; p = 0.036), while no such association was observed for SSGT (β = −2.50; p = 0.65). Higher rare variant genetic scores for synaptic transmission and regulation of transcription from RNA polymerase II were separately associated with less beneficial (β = 8.30, p = 0.0044) or more beneficial (β = −6.79, p = 0.014) effects after SSGT compared with standard care at follow-up, respectively. Our ML model showed the importance of rare variants for outcome prediction. Further studies are needed to understand genetic predisposition to intervention outcomes in ASD.
Ämnesord
- SAMHÄLLSVETENSKAP -- Psykologi (hsv//swe)
- SOCIAL SCIENCES -- Psychology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
Nyckelord
- autism spectrum disorder
- exome sequencing
- genetic testing
- rare variants
- social skills group training
- psykologi
- Psychology
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Li, Danyang
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Choque Olsson, N ...
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Becker, Martin
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Arora, Abishek
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Jiao, Hong
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Norgren, Nina
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visa fler...
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Jonsson, Ulf, 19 ...
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Bolte, Sven
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Tammimies, Krist ...
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visa färre...
- Om ämnet
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- SAMHÄLLSVETENSKAP
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SAMHÄLLSVETENSKA ...
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och Psykologi
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Medicinsk geneti ...
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Psykiatri
- Artiklar i publikationen
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Autism Research
- Av lärosätet
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Stockholms universitet
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Umeå universitet
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Karolinska Institutet
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Uppsala universitet