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Adaptive functioning of autistic children is traditionally measured through informant-report, often from parents. Behaviour varies across settings though, and context-specific reports should be considered. Limited and inconsistent results show low parent-education professional concordance, but no research has yet explored item level response variation. We investigated Vineland Adaptive Behaviour Scales-II concordance using 233 lower ability autistic children from the PACT-G sample. Domain and item level agreement was low, but better on objectively measured behaviours. Higher child nonverbal ability improved concordance. Where disagreements occurred, education professionals identified emergent skills more and parents were more likely to rate present/absent. Parents and education professionals view the adaptive abilities of autistic children differently and both should be considered when developing personalised interventions and support.

Supplemental material, sj-pdf-3-aut-10.1177_13623613221132921 for Co-design of an NHS primary care health check for autistic adults by Helen Taylor, Barry Ingham, David Mason, Tracy Finch, Colin Wilson, Clare Scarlett, Sebastian Moss, Carole Buckley, Anna Urbanowicz, Dora Raymaker, Charlotte Seiboth, Rhianna Lees, Deborah Garland, Malcolm Osbourne, Nicholas Lennox, Sally-Ann Cooper, Christina Nicolaidis and Jeremy R Parr in Autism

Supplemental material, sj-pdf-4-aut-10.1177_13623613221132921 for Co-design of an NHS primary care health check for autistic adults by Helen Taylor, Barry Ingham, David Mason, Tracy Finch, Colin Wilson, Clare Scarlett, Sebastian Moss, Carole Buckley, Anna Urbanowicz, Dora Raymaker, Charlotte Seiboth, Rhianna Lees, Deborah Garland, Malcolm Osbourne, Nicholas Lennox, Sally-Ann Cooper, Christina Nicolaidis and Jeremy R Parr in Autism

Supplemental material, sj-docx-1-aut-10.1177_13623613221097502 for Consensus statements on optimal adult post-autism diagnosis support and services: Delphi process following a UK survey of autistic adults, relatives and clinicians by Sarah Wigham, Barry Ingham, Ann Le Couteur, Colin Wilson, Ian Ensum and Jeremy R Parr in Autism

Supplemental material, sj-pdf-1-aut-10.1177_13623613221132921 for Co-design of an NHS primary care health check for autistic adults by Helen Taylor, Barry Ingham, David Mason, Tracy Finch, Colin Wilson, Clare Scarlett, Sebastian Moss, Carole Buckley, Anna Urbanowicz, Dora Raymaker, Charlotte Seiboth, Rhianna Lees, Deborah Garland, Malcolm Osbourne, Nicholas Lennox, Sally-Ann Cooper, Christina Nicolaidis and Jeremy R Parr in Autism

Supplemental material, sj-docx-1-aut-10.1177_13623613211073020 for A survey of autistic adults, relatives and clinical teams in the United Kingdom: And Delphi process consensus statements on optimal autism diagnostic assessment for adults by Sarah Wigham, Barry Ingham, Ann Le Couteur, Colin Wilson, Ian Ensum and Jeremy R Parr in Autism

Supplemental material, sj-pdf-2-aut-10.1177_13623613221132921 for Co-design of an NHS primary care health check for autistic adults by Helen Taylor, Barry Ingham, David Mason, Tracy Finch, Colin Wilson, Clare Scarlett, Sebastian Moss, Carole Buckley, Anna Urbanowicz, Dora Raymaker, Charlotte Seiboth, Rhianna Lees, Deborah Garland, Malcolm Osbourne, Nicholas Lennox, Sally-Ann Cooper, Christina Nicolaidis and Jeremy R Parr in Autism

Supplemental material, sj-pdf-4-aut-10.1177_13623613221132921 for Co-design of an NHS primary care health check for autistic adults by Helen Taylor, Barry Ingham, David Mason, Tracy Finch, Colin Wilson, Clare Scarlett, Sebastian Moss, Carole Buckley, Anna Urbanowicz, Dora Raymaker, Charlotte Seiboth, Rhianna Lees, Deborah Garland, Malcolm Osbourne, Nicholas Lennox, Sally-Ann Cooper, Christina Nicolaidis and Jeremy R Parr in Autism

Supplemental material, sj-pdf-3-aut-10.1177_13623613221132921 for Co-design of an NHS primary care health check for autistic adults by Helen Taylor, Barry Ingham, David Mason, Tracy Finch, Colin Wilson, Clare Scarlett, Sebastian Moss, Carole Buckley, Anna Urbanowicz, Dora Raymaker, Charlotte Seiboth, Rhianna Lees, Deborah Garland, Malcolm Osbourne, Nicholas Lennox, Sally-Ann Cooper, Christina Nicolaidis and Jeremy R Parr in Autism

Supplemental material, sj-pdf-1-aut-10.1177_1362361321993709 for How to improve healthcare for autistic people: A qualitative study of the views of autistic people and clinicians by David Mason, Barry Ingham, Heather Birtles, Cos Michael, Clare Scarlett, Ian A James, Toni Brown, Marc Woodbury-Smith, Colin Wilson, Tracy Finch and Jeremy R Parr in Autism

Supplemental material, sj-docx-1-aut-10.1177_13623613211033757 for Caregiver perspectives on the impact of uncertainty on the everyday lives of autistic children and their families by Jane Goodwin, Priyanka Rob, Mark Freeston, Deborah Garland, Victoria Grahame, Ashleigh Kernohan, Marie Labus, Malcolm Osborne, Jeremy R Parr, Catharine Wright and Jacqui Rodgers in Autism

Supplemental material, AUT889272_Supplemental_material_2 for The feasibility of low-intensity psychological therapy for depression co-occurring with autism in adults: The Autism Depression Trial study – a pilot randomised controlled trial by Ailsa Russell, Daisy M Gaunt, Kate Cooper, Stephen Barton, Jeremy Horwood, David Kessler, Chris Metcalfe, Ian Ensum, Barry Ingham, Jeremy R Parr, Dheeraj Rai and Nicola Wiles in Autism

Supplemental material, AUT889272_Supplemental_material_1 for The feasibility of low-intensity psychological therapy for depression co-occurring with autism in adults: The Autism Depression Trial study – a pilot randomised controlled trial by Ailsa Russell, Daisy M Gaunt, Kate Cooper, Stephen Barton, Jeremy Horwood, David Kessler, Chris Metcalfe, Ian Ensum, Barry Ingham, Jeremy R Parr, Dheeraj Rai and Nicola Wiles in Autism

Supplemental material, AUT889272_Supplemental_material_3 for The feasibility of low-intensity psychological therapy for depression co-occurring with autism in adults: The Autism Depression Trial study – a pilot randomised controlled trial by Ailsa Russell, Daisy M Gaunt, Kate Cooper, Stephen Barton, Jeremy Horwood, David Kessler, Chris Metcalfe, Ian Ensum, Barry Ingham, Jeremy R Parr, Dheeraj Rai and Nicola Wiles in Autism

Supplemental material, AUT748245_Supplementary_Table_DS1 for Psychometric properties of questionnaires and diagnostic measures for autism spectrum disorders in adults: A systematic review by Sarah Wigham, Jacqui Rodgers, Tom Berney, Ann Le Couteur, Barry Ingham and Jeremy R Parr in Autism

Supplemental material, AUT748245_Supplementary_Material_PRISMA_2009_Checklist for Psychometric properties of questionnaires and diagnostic measures for autism spectrum disorders in adults: A systematic review by Sarah Wigham, Jacqui Rodgers, Tom Berney, Ann Le Couteur, Barry Ingham and Jeremy R Parr in Autism

Supplemental material, AUT786721_Lay_Abstract for Making the future together: Shaping autism research through meaningful participation by Sue Fletcher-Watson, Jon Adams, Kabie Brook, Tony Charman, Laura Crane, James Cusack, Susan Leekam, Damian Milton, Jeremy R Parr and Elizabeth Pellicano in Autism

Supplemental material, AUT748245_Lay_Abstract for Psychometric properties of questionnaires and diagnostic measures for autism spectrum disorders in adults: A systematic review by Sarah Wigham, Jacqui Rodgers, Tom Berney, Ann Le Couteur, Barry Ingham and Jeremy R Parr in Autism

Supplemental material, AUT714988_Supplementary_Material for A systematic review of quality of life of adults on the autism spectrum by Michael Ayres, Jeremy R Parr, Jacqui Rodgers, David Mason, Leah Avery and Darren Flynn in Autism

Supplemental material, AUT714988_Lay_Abstract for A systematic review of quality of life of adults on the autism spectrum by Michael Ayres, Jeremy R Parr, Jacqui Rodgers, David Mason, Leah Avery and Darren Flynn in Autism

Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0× 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7× 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation.

Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.

Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.