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Early Developmental Regression in Autism Spectrum Disorder: Evidence from an International Multiplex Sample

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Abstract

The characteristics of early developmental regression (EDR) were investigated in individuals with ASD from affected relative pairs recruited to the International Molecular Genetic Study of Autism Consortium (IMGSAC). Four hundred and fifty-eight individuals with ASD were recruited from 226 IMGSAC families. Regression before age 36 months occurred in 23.9% of individuals. The observed concordance rate for EDR within sibling pairs (18.9%) was not significantly above the rate expected under independence (13.5%, p = 0.10). The rate of regression in individuals with ASD from multiplex families was similar to that reported in singleton and epidemiological samples. Regression concordance data were not supportive of a separate familial influence on EDR, other than as a part of autism itself.

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Notes

  1. Fifteen individuals lost skills after 36 months of age; eight of these individuals lost language skills, of whom four lost language and non-language skills and four lost language skills only. Seven of the 15 individuals lost non-language skills (most commonly social skills), by comparison with 10/105 individuals with EDR (Table 2), suggesting the possibility that non-language regression may be more common after 36 months. In the 8 individuals who lost language, regression occurred at a mean age of 65.6 months (range 42–144 months); six of these individuals met definite language loss criteria and two individuals lost language that met lower level criteria. At the time of ADI-R administration, twelve of the 15 individuals had a performance IQ > 60 and 9/15 had at least functional phrase speech. Due to the small number of children who lost skills after age 3 years, statistical comparisons with the non-regression group are not possible. Nevertheless, these data suggest that some individuals with ASD do lose language and non-language skills after age 3 years.

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Correspondence to Jeremy R. Parr.

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The Following IMGSAC Members Contributed to this Publication

  • University of Oxford Department of Psychiatry, Oxford, UK

    Professor Anthony Bailey, Dr Jeremy Parr, Dr Simon Wallace, Dr Kerstin Wittemeyer

  • Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK

    Professor Anthony Monaco, Dr Gabrielle Barnby

  • Social, Genetic & Developmental Psychiatry Centre (SGDP), Institute of Psychiatry, London, UK

    Professor Sir Michael Rutter

  • Institute of Psychiatry, King’s College London, London, UK

    Professor Patrick Bolton, Dr Janette Moore, Marianna Murin

  • Institute of Health and Society, Newcastle University, Newcastle, UK

    Professor Ann Le Couteur, Professor Helen McConachie, Dr Tom Berney

  • Guy’s and St Thomas’ NHS Foundation Trust, London, UK

    Professor Gillian Baird, Dr Zoe Docherty, Dr Stephen Abbs, Dr Caroline Ogilvie, Pamela Warburton

  • Community Based Medicine, University of Manchester, Manchester, UK

    Professor Andrew Pickles

  • Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, UK

    Dr Janine Lamb

  • Academic Department of Child Psychiatry, Booth Hall Hospital, Manchester, UK

    Professor Jonathan Green

  • ECACC, Porton Down, UK

    Dr Bryan Bolton, Ms Ros Packer

  • Center for Autisme, Denmark

    Dr Demetrious Haracopos, Dr Lennart Pedersen, Dr Torben Isager

  • John F Kennedy Instituttet, Denmark

    Dr Karen Brondum-Nielsen

  • Centre d’Etudes et de Recherches en Psychopathologie, Toulouse, France

    Professor Bernadette Roge, Professor Maïté Tauber, Dr Carine Mantoulan

  • Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, J.W. Goethe University, Frankfurt, Germany

    Professor Fritz Poustka, Professor Sven Bölte, Dr Sabine Feineis-Matthews, Dr Dorothea Rühl, Dr Gabriele Schmötzer

  • Division of Molecular Genome Analysis, German Cancer Research Center (DKFZ), Heidelberg, Germany

    Professor Annemarie Poustka (deceased), Dr Sabine M. Klauck

  • University Department of Child Psychiatry, Athens University Medical School, Greece

    Professor John Tsiantis, Dr Katerina Papanikolaou

  • Dipartimento di Biologia, University of Bologna, Bologna, Italy

    Dr Elena Maestrini

  • UMC Utrecht, Department of Child and Adolescent Psychiatry, and Rudolph Magnus Institute of Neuroscience, Utrecht, The Netherlands

    Professor Herman van Engeland, Dr Maretha De Jonge

  • University of Michigan Autism and Communicative Disorders Center (UMACC), US

    Professor Catherine Lord, Dr Christina Corsello

  • Institute for Juvenile Research, University of Illinois at Chicago, Chicago, US

    Professor Edwin Cook, Dr Jeff Salt, Dr Stephen Guter

  • Nathan Kline Institute for Psychiatric Research, Orangeburg, and Department of Child and Adolescent Psychiatry, New York University, New York, US

    Professor Bennett Leventhal

  • Yale University, New Haven, Connecticut, US

    Professor Fred Volkmar, Kathleen Koenig

  • McGill University Division of Psychiatry, Montreal, Canada

    Professor Eric Fombonne

IMGSAC has been Funded by

The Consortium is funded in part by project grants from the following funders:

  • The Medical Research Council

  • The Wellcome Trust

  • The Nancy-Lurie Marks (NLM) Family Foundation

IMGSAC has also received grants from the following funders:

  • BIOMED 2 (CT-97-2759)

  • EC Fifth Framework (QLG2-CT-1999-0094)

  • Telethon—Italy (GGP030227)

  • Fondazione Cassa di Risparmio di Bologna

  • The Janus Korczak Foundation

  • Deutsche Forschungsgemeinschaft

  • Fondation France Télécom

  • Conseil Régional Midi-Pyrénées

  • Danish Medical Research Council

  • Sofiefonden

  • The Beatrice Surovell Haskells Fond for Child Mental Health Research of Copenhagen

  • The Danish Natural Science Research Council (9802210)

  • The National Institutes of Health (U19 HD35482, MO1 RR06022, K05 MH01196, K02 MH01389).

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Parr, J.R., Le Couteur, A., Baird, G. et al. Early Developmental Regression in Autism Spectrum Disorder: Evidence from an International Multiplex Sample. J Autism Dev Disord 41, 332–340 (2011). https://doi.org/10.1007/s10803-010-1055-2

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