OBJECTIVES:Diagnostic criteria for attention deficit hyperactivity disorder (ADHD) and autism have broadened and are common at estimated adult prevalences of 3%. This paper explores the incidence of autism and overlap of features in ADHD young adults transitioning from Child and Adolescents Mental Health Services (CAMHS) into a specialist adult ADHD service, and the utility of the Ritvo Autism Asperger Diagnostic Scale 14 (RAADS-14) assisting assessment and support planning. METHODS:This comparative cohort study included all young adult ADHD patients referred from CAMHS. A comprehensive assessment and diagnostic formulation, including RAADS-14 was completed. Those without a current autism diagnosis but clinical assessment suggested autism, underwent further assessment. Percentage of autistic and ADHD young adults was calculated. RAADS-14 total and subscale scores were compared between groups. Gender differences were assessed. RESULTS:Co-occurrence of autism in a group of young adults diagnosed with ADHD was high (53%). High levels of autism features were evident in the ADHD only group. Significant differences in the RAADS-14 sub-scores (social anxiety, mentalizing and sensory sensitivities) were found between the autistic ADHD and non autistic ADHD groups. Autistic females scored higher on all domains of the RAADS-14 compared to males. Sensory sensitivities were significantly higher in females in both groups. CONCLUSIONS:The level of co-occurrence of autism, and overlap of features, suggests employment of neurodevelopmental rather than single condition approaches to avoid mis-diagnosis/missed diagnoses. Sensory sensitivities are suggestive of neurodevelopmental differences particularly in females regardless of diagnostic category. The RAADS-14 may be helpful as part of screening and support planning.

Psychiatric disturbance in young people with an intellectual disability (ID) differs in its presentation and management from that of both mainstream Child and Adolescent Psychiatry and Adult Intellectual Disability Psychiatry. Neurodevelopmental disorder (notably autistism spectrum disorder and attention deficit hyperactivity disorder) is frequently present, the more so the more pronounced the overall ID. While age, ability, and gender are important, so are the contexts of family relationships, and the school (or college) which form the central focus for assessment and management. A child-centred approach encourages recognition of the capacity to take part in decisions; something that can be overlooked in their dependency on these two settings.

Background: Clinicians use diagnostic interviews to help them gather and organize information collected in the assessment of autism. Most instruments are developed for children and few measures have been developed that are reliable, valid, and appropriate for use in adulthood. This is a significant barrier to providing a high-quality, timely service for adults. The aim of this development study was to assess the initial utility of the recently developed Autism Clinical Interview for Adults (ACIA) for use in autism diagnostic clinical services before further large-scale testing and evaluation.Methods: We invited adults who had received an autism spectrum diagnosis through a U.K. National Health Service (NHS) multidisciplinary adult autism assessment to participate. Seventeen autistic adults (8 women and 9 men, mean age of 37 years) and four relatives agreed to an interview. The semistructured ACIA interview comprises subject and informant versions, and a self-report preinterview questionnaire. In combination, the ACIA components cover topics relevant to autism and co-occurring condition assessment. We evaluated clinical utility and content validity via comparison with the Diagnostic and Statistical Manual Fifth Edition (DSM-5) and NHS diagnostic reports.Results: Each interview took between 60 and 90 minutes to complete. Comparison with DSM-5 and the NHS autism diagnostic report demonstrated that the ACIA accurately identified information on core autism characteristics needed for a diagnosis, and identified co-occurring conditions. In response to participant suggestions we revised the interview.Conclusions: These initial findings support the potential utility and validity of the ACIA for adult autism diagnostic clinical services. Further investigations of the acceptability, utility, and validity of this interview are planned. Lay summary Why was this study done?Clinicians use diagnostic interviews during assessments to help gather and record information both from a person suspected to be on the autism spectrum and from an informant (someone who knows them well). However, most autism diagnostic interviews were originally developed for assessing autism in childhood, and few have been developed for use with adults. The lack of diagnostic interviews developed specifically for use with adults makes it difficult to provide a good-quality, consistent assessment. What was the purpose of this study?The study tested a new semistructured diagnostic interview called the Autism Clinical Interview for Adults (ACIA). The ACIA includes a questionnaire for people to complete before their interview. This is followed by an interview that can be conducted with the person themselves and a separate version to be used with someone who knows them well (if permitted). The interview covers autism traits, strengths and difficulties, and co-occurring physical and mental health conditions. We wanted to find out if the interview is useful for autism diagnostic services by comparing information collected using the ACIA with clinical diagnostic reports. What did the researchers do?We invited people who had received a diagnosis of autism from a U.K. National Health Service (NHS) assessment to take part in an interview. We asked them if we could also interview someone who knew them well, and if we could compare their NHS autism diagnostic report with information gathered using the ACIA. What were the results of the study?Seventeen autistic adults (average age 37 years; 8 women and 9 men) and 4 relatives/supporters (2 parents, a spouse, and a cohabiting partner) agreed to be interviewed. Each interview took 60 to 90 minutes to complete. A comparison with clinical reports showed the ACIA identified autism traits relevant for a diagnosis, as well as co-occurring conditions (e.g., depression). Participants suggested some ways to improve the interview, and revisions were made. What do these findings add to what is already known?There are few diagnostic interviews designed specifically for use with adults seeking a diagnosis of autism. The findings from this study show that the ACIA is a promising new interview. What are the potential weaknesses of the study?The study is small. However, it is important to run an initial test study before involving more people and resources in larger studies. Building on these results, we aim to undertake further studies on the acceptability and usefulness of the new interview with a larger number of people, including people from a range of backgrounds. How will these findings help autistic people now or in the future?The ACIA has potential for use in adult autism clinical assessment services and as a resource for research and training. The semistructured format helps gather important and relevant information, and the interview length supports feasibility in clinical and research settings. The ACIA has the potential to streamline autism assessments and speed up the process for adults who currently wait a long time for their diagnosis.

Accurately diagnosing autism spectrum disorders in adulthood can be challenging. Structured questionnaires and diagnostic measures are frequently used to assist case recognition and diagnosis. This study reviewed research evidence on structured questionnaires and diagnostic measures published since the National Institute for Health and Care Excellence evidence update. The Cochrane library, Medline, Embase and PsycINFO were searched. In all, 20 studies met inclusion criteria. Sensitivity and specificity of structured questionnaires were best for individuals with previously confirmed autism spectrum disorder diagnoses and reduced in participants referred for diagnostic assessments, with discrimination of autism spectrum disorder from mental health conditions especially limited. For adults with intellectual disability, diagnostic accuracy increased when a combination of structured questionnaires were used. Evidence suggests some utility of diagnostic measures in identifying autism spectrum disorder among clinic referrals, although specificity for diagnosis was relatively low. In mental health settings, the use of a single structured questionnaire is unlikely to accurately identify adults without autism spectrum disorder or differentiate autism spectrum disorder from mental health conditions. This is important as adults seeking an autism spectrum disorder diagnostic assessment are likely to have co-existing mental health conditions. Robust autism spectrum disorder assessment tools specifically for use in adult diagnostic health services in the presence of co-occurring mental health and neurodevelopmental disorders are a research priority.

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Autism Spectrum Disorder (Primer on) Edited by Christopher J. McDougle. Oxford University Press. 2016. £49.32 (pb), 518 pp. ISBN 9780199349722 This book is a substantial overview of autism spectrum disorder (ASD), its 26 chapters covering diagnosis, aetiology, comorbidity, management and service

It is well acknowledged and understood that children who have been sexually, physically or emotionally abused are likely to experience psychiatric disorders in adulthood. Persons with intellectual disability who have been through abuse face a more complex double or even triple jeopardy because of mental illness, intellectual disability and abuse. They are more likely to be vulnerable to further exploitation and manipulation. Prevalence of disability is linked with development of mental ill-health and distress compounded by experiences of sexual, physical or emotional abuse. Clinicians need to be aware of the role abuse may play and must be sensitive in exploring history of abuse as well as any ongoing difficulties. Legal frameworks wherever available should be used to protect vulnerable individuals. If such protection is not available it is imperative that clinicians and policymakers work together to set up these frameworks.

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.

Background Autism spectrum disorder (ASD) is characterised by impairments in social communication and by a pattern of repetitive behaviours, with learning disability (LD) typically seen in up to 70% of cases. A recent study using the PPL statistical framework identified a novel region of genetic linkage on chromosome 16q21 that is limited to ASD families with LD.Methods In this study, two families with autism and/or LD are described which harbour rare > 1.6 Mb microdeletions located within this linkage region. The deletion breakpoints are mapped at base-pair resolution and segregation analysis is performed using a combination of 1M single nucleotide polymorphism (SNP) technology, array comparative genomic hybridisation (CGH), long-range PCR, and Sanger sequencing. The frequency of similar genomic variants in control subjects is determined through analysis of published SNP array data. Expression of CDH8, the only gene disrupted by these microdeletions, is assessed using reverse transcriptase PCR and in situ hybridisation analysis of 9 week human embryos.Results The deletion of chr16: 60 025 584-61 667 839 was transmitted to three of three boys with autism and LD and none of four unaffected siblings, from their unaffected mother. In a second family, an overlapping deletion of chr16: 58 724 527-60 547 472 was transmitted to an individual with severe LD from his father with moderate LD. No copy number variations (CNVs) disrupting CDH8 were observed in 5023 controls. Expression analysis indicates that the two CDH8 isoforms are present in the developing human cortex.Conclusion Rare familial 16q21 microdeletions and expression analysis implicate CDH8 in susceptibility to autism and LD.

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.

The autism spectrum disorders (ASDs) are a group of conditions typically characterized by repetitive behaviour, severely restricted interests and difficulties with social interactions and communication. ASDs are highly heritable, yet the underlying genetic determinants remain largely unknown. A genome-wide analysis reveals that people with ASDs carry a higher load of rare copy-number variants — segments of DNA for which the copy number differs between individual genomes — which are either inherited or arise de novo. The results implicate several novel genes as ASD candidates and point to the importance of cellular proliferation, projection and motility as well as specific signalling pathways in this disorder. The autistic spectrum disorders (ASDs) are highly heritable, yet the underlying genetic determinants remain largely unknown. Here, a genome-wide analysis of rare copy number variants (CNVs) has been carried out, revealing that ASD sufferers carry a higher load of rare, genic CNVs than do controls. Many of these CNVs are de novo and inherited. The results implicate several novel genes in ASDs, and point to the importance of cellular proliferation, projection and motility, as well as specific signalling pathways, in these disorders. The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours1. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability2. Although ASDs are known to be highly heritable (∼90%)3, the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 × 10-4). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53–PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.

A review of the presentation and the issues surrounding the management of developmental disorders which, while always part of the remit of child psychiatry and learning disability psychiatry, are relatively new to adult psychiatry.

Child and Adolescent Mental HealthVolume 13, Issue 2 p. 99-99 New Developments in Autism: The Future is Today Tom Berney, Tom Berney Prudhoe Hospital, NorthumberlandSearch for more papers by this author Tom Berney, Tom Berney Prudhoe Hospital, NorthumberlandSearch for more papers by this author First published: 07 April 2008 https://doi.org/10.1111/j.1475-3588.2008.00486_2.xRead the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article. Volume13, Issue2May 2008Pages 99-99 RelatedInformation

This review outlines the nature of autism spectrum disorder (ASD) in childhood and early adolescence, its relationship to the autistic condition, and the disabilities and co‐morbid disorders that accompany it. On this basis it gives an overview of the needs of children and families with ASD and the mental health services that they require.

Journal of Intellectual Disability ResearchVolume 51, Issue 3 p. 250-251 Pervasive Developmental Disorder in Mental Retardation Scale (PDD-MRS) Tom Berney, Tom Berney Prudhoe HospitalSearch for more papers by this author Tom Berney, Tom Berney Prudhoe HospitalSearch for more papers by this author First published: 29 January 2007 https://doi.org/10.1111/j.1365-2788.2006.00887.xRead the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References De Bildt A., Sytema S., Ketelaars C., Kraijer D., Volkmar F. & Minderaa R. (2003) Measuring pervasive developmental disorders in children and adolescents with mental retardation: a comparison of two screening instruments used in a study of the total mentally retarded population from a designated area. Journal of Autism and Developmental Disorders 33, 595– 605. Filipek P. A., Accardo P. J., Ashwal S., Baranek G. T., Cook E. H., Jr, Dawson G., Gordon B., Gravel J. S., Johnson C. P., Kallen R. J., Levy S. E., Minshew N. J., Ozonoff S., Prizant B. M., Rapin I., Rogers S. J., Stone W. L., Teplin S. W., Tuchman R. F. & Volkmar F. R. (2000) Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society. Neurology 55, 468– 79. Kraijer D. (1997) Autism and Autistic-Like Conditions in Mental Retardation. Swets & Zeitlinger, Lisse. Kraijer D. & De Bildt A. (2005) The PDD-MRS: an instrument for identification of autism spectrum disorders in persons with mental retardation. Journal of Autism and Developmental Disorders 35, 499– 513. La Malfa G., Lassi S., Bertelli M., Salvini R. & Piacidi G. F. (2004) Autism and intellectual disability: a study of prevalence on a sample of the Italian population. Journal of Intellectual Disability Research 48, 262– 267. Le Couteur A. & Baird G. (2003) National Autism Plan for Children (NAPC). National Autistic Society, London. Morgan C. N., Roy M., Nasp A., Chance P., Hand M., Mlele T. & Roy A. (2002) A community survey establishing the prevalence rate of autism in adults with learning disability. Psychiatric Bulletin 26, 127– 130. Williams J. & Brayne C. (2006) Screening for autism spectrum disorders: what is the evidence? Autism 10, 11– 35. Volume51, Issue3March 2007Pages 250-251 ReferencesRelatedInformation

Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs.

Psychiatric services for children and adolescents with learning disabilities have been subject to fashion and aspiration rather than pragmatic planning, at different times being claimed by different specialties. As services have atrophied, it has become clear how distinct are the clinical issues that arise in this group; issues that show developmental psychiatry at its starkest with a combination of organic, dynamic and systemic factors that require community teamwork. As services and specialties regroup, this evolving area is likely to continue defining itself, perhaps taking in adults with developmental disorders, to emerge as a new specialty, developmental psychiatry. It remains to be seen where this will sit within the health service.

The child/adolescent is set in a complex framework of relationships and services for the psychiatrist to work with. The medical disorders that accompany learning disability, as well as the disability itself, complicate the psychopathology so that the risk of misdiagnosis increases with the degree of disability. To be effective the psychiatrist has to work well with other disciplines and agencies, being open to their perspectives, as well as being familiar with the subculture and dynamics of disability. The work requires expertise in a variety of neurodevelopmental conditions, particularly autism and epilepsy, as well as in psychopharmacology.

Asperger syndrome, a form of autism with normal ability and normal syntactical speech, is associated with a variety of comorbid psychiatric disorders. The disorder is well known to child psychiatry, and we are beginning to recognise the extent of its impact in adulthood. The article reviews the diagnosis and assessment of Asperger syndrome and its links with a wide range of psychiatric issues, including mental disorder, offending and mental capacity. It also describes the broader, non-psychiatric management of Asperger syndrome itself, which includes social and occupational support and education, before touching on the implications the disorder has for our services.