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An axis of genetic heterogeneity in autism is indexed by age at diagnosis and is associated with varying developmental and mental health profiles.
Zhang, Xinhe; Grove, Jakob; Gu, Yuanjun; Buus, Cornelia K; Nielsen, Lea K; Neufeld, Sharon A S; Koko, Mahmoud; Malawsky, Daniel S; Wade, Emma; Verhoef, Ellen; Gui, Anna; Hegemann, Laura; Geschwind, Daniel H; Wray, Naomi R; Havdahl, Alexandra; Ronald, Angelica; St Pourcain, Beate; Robinson, Elise B; Bourgeron, Thomas; Baron-Cohen, Simon; Børglum, Anders D; Martin, Hilary C; Warrier, Varun.
Afiliación
  • Zhang X; Department of Psychiatry, University of Cambridge.
  • Grove J; Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK.
  • Gu Y; The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Aarhus, Denmark.
  • Buus CK; Center for Genomics and Personalized Medicine (CGPM), Aarhus University, Aarhus, Denmark.
  • Nielsen LK; Department of Biomedicine (Human Genetics) and iSEQ Center, Aarhus University, Aarhus, Denmark.
  • Neufeld SAS; Bioinformatics Research Centre, Aarhus University, Aarhus, Denmark.
  • Koko M; Department of Psychiatry, University of Cambridge.
  • Malawsky DS; Autism Research Centre, Department of Psychiatry, University of Cambridge, Cambridge, UK.
  • Wade E; Department of Biomedicine (Human Genetics) and iSEQ Center, Aarhus University, Aarhus, Denmark.
  • Verhoef E; Department of Biomedicine (Human Genetics) and iSEQ Center, Aarhus University, Aarhus, Denmark.
  • Gui A; Department of Psychiatry, University of Cambridge.
  • Hegemann L; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1SA, UK.
  • Geschwind DH; Department of Psychology, University of Essex, Wivenhoe Park, Colchester, CO4 3SQ, United Kingdom.
  • Wray NR; Centre for Brain and Cognitive Development, Department of Psychological Sciences, Birkbeck University of London, London, WC1E 7HX, United Kingdom.
  • Havdahl A; Department of Psychology, University of Oslo, Oslo, Norway.
  • Ronald A; Nic Waals Institute, Lovisenberg Diaconal Hospital, Oslo, Norway.
  • St Pourcain B; PsychGen Center for Genetic Epidemiology and Mental Health, Norwegian Institute of Public Health, Oslo, Norway.
  • Børglum AD; Program in Neurobehavioral Genetics and Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
  • Martin HC; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
  • Warrier V; Department of Psychiatry, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
medRxiv ; 2024 Aug 02.
Article en En | MEDLINE | ID: mdl-39132493
ABSTRACT
There is growing recognition that earliest signs of autism need not clearly manifest in the first three years of life. To what extent is this variation in developmental trajectories associated with age at autism diagnosis? Does the genetic profile of autism vary with age at autism diagnosis? Using longitudinal data from four birth cohorts, we demonstrate that two different trajectories of socio-emotional behaviours are associated with age at diagnosis. We further demonstrate that the age at autism diagnosis is partly heritable (h2 SNP = 0.12, s.e.m = 0.01), and is associated with two moderately correlated (rg = 0.38, s.e.m = 0.07) autism polygenic factors. One of these factors is associated with earlier diagnosis of autism, lower social and communication abilities in early childhood. The second factor is associated with later autism diagnosis, increased socio-emotional difficulties in adolescence, and has moderate to high positive genetic correlations with Attention-Deficit/Hyperactivity Disorder, mental health conditions, and trauma. Overall, our research identifies an axis of heterogeneity in autism, indexed by age at diagnosis, which partly explains heterogeneity in autism and the profiles of co-occurring neurodevelopmental and mental health profiles. Our findings have important implications for how we conceptualise autism and provide one model to explain some of the diversity within autism.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: MedRxiv Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: MedRxiv Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos