Diagnosing autism spectrum disorder: who will get a DSM-5 diagnosis?

BACKGROUND: Introduction of proposed criteria for DSM-5 Autism Spectrum Disorder (ASD) has raised concerns that some individuals currently meeting diagnostic criteria for Pervasive Developmental Disorder (PDD; DSM-IV-TR/ICD-10) will not qualify for a diagnosis under the proposed changes. To date, reports of sensitivity and specificity of the new criteria have been inconsistent across studies. No study has yet considered how changes at the 'sub domain' level might affect overall sensitivity and specificity, and few have included individuals of different ages and ability levels. METHODS: A set of DSM-5 ASD algorithms were developed using items from the Diagnostic Interview for Social and Communication Disorders (DISCO). The number of items required for each DSM-5 subdomain was defined either according to criteria specified by DSM-5 (Initial Algorithm), a statistical approach (Youden J Algorithm), or to minimise the number of false positives while maximising sensitivity (Modified Algorithm). The algorithms were designed, tested and compared in two independent samples (Sample 1, N = 82; Sample 2, N = 115), while sensitivity was assessed across age and ability levels in an additional dataset of individuals with an ICD-10 PDD diagnosis (Sample 3, N = 190). RESULTS: Sensitivity was highest in the Initial Algorithm, which had the poorest specificity. Although Youden J had excellent specificity, sensitivity was significantly lower than in the Modified Algorithm, which had both good sensitivity and specificity. Relaxing the domain A rules improved sensitivity of the Youden J Algorithm, but it remained less sensitive than the Modified Algorithm. Moreover, this was the only algorithm with variable sensitivity across age. All versions of the algorithm performed well across ability level. CONCLUSIONS: This study demonstrates that good levels of both sensitivity and specificity can be achieved for a diagnostic algorithm adhering to the DSM-5 criteria that is suitable across age and ability level.

Contribution and legacy of John Wing, 1923-2010.

The death of Professor John Wing, one of the giants of 20th-century British and world psychiatry, rightly deserves to be marked by a tribute in the British Journal of Psychiatry. This article has been prepared by four people who knew John personally and through his work, his partner in private and work life, a colleague in Great Britain and one abroad and a pupil, which are set out as four separate contributions. John was born on 22 October 1923. He died on 18 April 2010, aged 87.

Describing the sensory abnormalities of children and adults with autism.

Patterns of sensory abnormalities in children and adults with autism were examined using the Diagnostic Interview for Social and Communication Disorders (DISCO). This interview elicits detailed information about responsiveness to a wide range of sensory stimuli. Study 1 showed that over 90% of children with autism had sensory abnormalities and had sensory symptoms in multiple sensory domains. Group differences between children with autism and clinical comparison children were found in the total number of symptoms and in specific domains of smell/taste and vision. Study 2 confirmed that sensory abnormalities are pervasive and multimodal and persistent across age and ability in children and adults with autism. Age and IQ level affects some sensory symptoms however. Clinical and research implications are discussed.

Reflections on opening Pandora's box.

Publishing my paper on Asperger's syndrome in 1981, and suggesting that it is part of the autistic spectrum, has had various consequences. These include the growth of interest in the syndrome among the general public as well as professionals. Controversy over definitions of subgroups and prevalence of autistic spectrum disorders has increased. Adult psychiatrists are becoming aware that high functioning autistic disorders can underlie psychiatric conditions. Naming the condition has helped many with the syndrome to greater understanding of their skills and disabilities. It has highlighted the special contribution people with Asperger syndrome have made to the world. There has been a growth of specialist services but many more are needed. Describing and naming the syndrome has had mainly positive effects.

Chronicity of challenging behaviours in people with severe intellectual disabilities and/or autism: a total population sample.

The skills, social impairments and challenging behaviours of a total population of 166 children, with severe intellectual disabilities and/or autism, were assessed through interview with the main carers, when the children were under 15 years old (time 1). Twelve years later, 141 of these individuals were re-assessed, using the same measures (time 2). "Abnormal" behaviours tended to reduce with age and were associated with poorer language skills and poorer quality of social interaction. Individuals with most abnormal behaviours at time 1, tended to have most at time 2. Abnormal behaviour at time 2 was predicted by the presence of abnormal behaviour at time 1, poor expressive language at time 1, poor quality of social interaction at time 1 and a diagnosis of autism/autistic continuum at time 1.

Long-term outcome for people with severe intellectual disabilities: impact of social impairment.

Results from a 25-year follow-up study of the Camberwell Cohort (L. Wing & Gould, 1978, 1979) were presented. Ninety-one people, ranging in age from 27 to 41 years, were traced, and an outcome measure was developed incorporating independent functioning, residential placement, employment, and quality of life. Outcome was rated as either poor (53%) or fair (43%), with only 3% having a good outcome. Using logistic regression methods, we found that the best predictor of outcome was social impairment, with those who were socially impaired, particularly those in the aloof category, having a poorer outcome. Higher IQ at Time 1 and lower challenging behavior were also predictive of better outcome. An in-depth look at social impairment revealed that social impairment remained stable over time.

Changes in social impairment for people with intellectual disabilities: a follow-up of the Camberwell cohort.

The skills and social impairments of a total population of children with severe intellectual disabilities and/or autism from Camberwell, South London (Wing and Gould, 1978 and 1979), were assessed using the Handicaps, Behaviours and Skills schedule, and they were reassessed when they were adolescents and young adults (Shah, 1986). Changes in social impairment over time are presented here. As Shah (1986) had found with a smaller sample, social impairment remained relatively stable over time: on a simple "socially impaired" versus "sociable" dichotomous grouping, 93% did not change social group. Within the socially impaired group, there was a significant increase in impairment over time (i.e., people who were passive at Time 1, were aloof at Time 2). Implications of these results and predictions for a further follow-up study are discussed.

Autism spectrum disorders in the DSM-V: better or worse than the DSM-IV?

The DSM-V-committee has recently published proposed diagnostic criteria for autism spectrum disorders. We examine these criteria in some detail. We believe that the DSM-committee has overlooked a number of important issues, including social imagination, diagnosis in infancy and adulthood, and the possibility that girls and women with autism may continue to go unrecognised or misdiagnosed under the new manual. We conclude that a number of changes need to be made in order that the DSM-V-criteria might be used reliably and validly in clinical practice and research.

A systematic examination of catatonia-like clinical pictures in autism spectrum disorders.

Three studies concerning catatonia-like clinical pictures in people with autism spectrum disorders (ASDs) referred to clinics are described. The first investigated the frequencies, in children and adults with autistic disorders, of 28 specific disorders of movement, speech, and behavior similar to those occurring in chronic catatonia spectrum conditions. The second compared the frequency of these items among groups of children with, ASDs, learning disabilities, specific language impairment, and a group with typical development, respectively. The third study examined the pattern of catatonia-like deterioration occurring in a minority of adolescents and adults with ASDs. The studies demonstrated the high frequency of catatonia-like features in people with autistic disorders. There was some tendency for improvement with increasing age, especially for those with IQ 70 or over. The items were also found in children with learning disabilities and specific language disorders but significantly less often. They occurred least often in the children with typical development. Severe catatonia-like deterioration occurred in 17% of those with autistic disorders, who were aged 15 years or over when assessed at a diagnostic center. A history of passivity in social interaction and impairment of expressive language were associated with the deterioration. No clear relationship was found between a history of catatonia-like features, singly or combined, and catatonia-like deterioration. The findings pose questions for future research.

Psychological approaches to chronic catatonia-like deterioration in autism spectrum disorders.

The psychological dysfunctions that may underlie catatonia-like deterioration in autism spectrum disorders are discussed. Clinical observation suggests that an important factor is ongoing stress. The evidence for this from research and clinical observation is considered. The lack of evidence concerning the most appropriate medical treatments is discussed. A psychological approach designed for individual needs by relevant professionals and applied by parents and/or caregivers is described. This can be helpful whether or not medical treatments are used. It involves detailed holistic assessment of the individual and their circumstances to highlight possible precipitating stress factors in view of their underlying autism and cognitive/psychological functioning. The overall aim of this approach is to restructure the individual's lifestyle, environment and resolve cognitive/psychological factors to reduce the stress. An eclectic approach is used to find individual strategies in order to provide external goals and stimulation to increase motivation and keep the person engaged and active in meaningful and enjoyable pursuits. The approach describes ways of using verbal and physical prompts as external stimuli to overcome the movement difficulties and emphasizes maintaining a predictable structure and routine for each day. The importance of educating caregivers and service providers to understand the catatonia-like behavior is emphasized. Advice is given on management of specific problems such as incontinence, freezing in postures, eating problems, and episodes of excitement.

Blueprints for the assessment, treatment, and future study of catatonia in autism spectrum disorders.

The blueprints for the assessment, treatment, and future study of catatonia in autism spectrum disorders (ASDs), which are submitted in this chapter aim to increase early recognition and treatment of catatonia in ASDs, show the urgency of controlled treatment trials, and increase collaborative and interdisciplinary research into the co-occurrence of these two enigmatic disorders. Catatonia should be assessed in any patient with ASDs when there is an obvious and marked deterioration in movement, pattern of activities, self-care, and practical skills, compared with previous levels, through a comprehensive diagnostic evaluation of medical and psychiatric symptoms. A formal diagnosis should be ascertained using ASD specific criteria for catatonia that takes into account baseline symptoms like muteness, echophenomena, stereotypy, negativism, or other psychomotor abnormalities. Any underlying medical and neurological conditions should be treated, and culprit medications or other substances that may cause catatonia should be eliminated. Separate treatment blueprints are presented for mild, moderate, and severe catatonia, featuring combinations of a psychological approach developed by Shah and Wing and medical treatments that have shown efficacy in catatonia: lorazepam challenge, lorazepam trial, lorazepam continuation, and bilateral electroconvulsive therapy (ECT). These treatment modalities in themselves are well established. Side effects and complications are known and manageable. Legal, ethical, and practice guidelines governing all treatment aspects should be followed. The treatment blueprints should be viewed as best estimates pending future controlled studies. The blueprint for the future study of catatonia in ASDs describes promising clinical and preclinical research avenues. Longitudinal studies need to assess the possible effect of early recognition and adequate treatment of catatonia in ASDs in order to avoid the impairment associated with chronicity. Effects of current and new anticatatonic treatments should be examined in experimental models of autism and catatonia. Finally, the role of gamma-aminobutyric acid (GABA) dysfunction in autism, catatonia, and abnormal stress responses in these disorders should be further assessed.

The epidemiology of autistic spectrum disorders: is the prevalence rising?

For decades after Kanner's original paper on the subject was published in 1943, autism was generally considered to be a rare condition with a prevalence of around 2-4 per 10,000 children. Then, studies carried out in the late 1990s and the present century reported annual rises in incidence of autism in pre-school children, based on age of diagnosis, and increases in the age-specific prevalence rates in children. Prevalence rates of up to 60 per 10,000 for autism and even more for the whole autistic spectrum were reported. Reasons for these increases are discussed. They include changes in diagnostic criteria, development of the concept of the wide autistic spectrum, different methods used in studies, growing awareness and knowledge among parents and professional workers and the development of specialist services, as well as the possibility of a true increase in numbers. Various environmental causes for a genuine rise in incidence have been suggested, including the triple vaccine for measles, mumps and rubella (MMR]. Not one of the possible environmental causes, including MMR, has been confirmed by independent scientific investigation, whereas there is strong evidence that complex genetic factors play a major role in etiology. The evidence suggests that the majority, if not all, of the reported rise in incidence and prevalence is due to changes in diagnostic criteria and increasing awareness and recognition of autistic spectrum disorders. Whether there is also a genuine rise in incidence remains an open question.

The Diagnostic Interview for Social and Communication Disorders: background, inter-rater reliability and clinical use.

BACKGROUND: The Diagnostic Interview for Social and Communication Disorders (DISCO) is a schedule for the diagnosis of autistic spectrum and related disorders and assessment of individual needs. It enables information to be recorded systematically for a wide range of behaviours and developmental skills and is suitable for use with all ages and levels of ability. In addition to helping the clinician to obtain a profile of each individual's pattern of development and behaviour, the DISCO also enables identification of specific features found in autistic spectrum disorders that are relevant for use with established diagnostic systems. METHOD: This paper describes the historical background of the DISCO, outlines its structure and reports the results of an inter-rater reliability study with parents of 82 children aged 3 to 11 years with autistic spectrum disorder, learning disability, language disorder or typical development. RESULTS: Inter-rater reliability for the items in the interview was high (kappa coefficient or intra-class correlation at .75 or higher). This level of agreement was achieved for over 80% of the interview items.

The Diagnostic Interview for Social and Communication Disorders: algorithms for ICD-10 childhood autism and Wing and Gould autistic spectrum disorder.

BACKGROUND: The Diagnostic Interview for Social and Communication Disorders (DISCO) is an interviewer-based schedule for use with parents and carers. In addition to its primary clinical purpose of helping the clinician to obtain a developmental history and description of the child or adult concerned, it can also be used to assist in providing a formal diagnostic category. METHOD: In this study we compared two algorithms based on the ninth revision of the schedule (DISCO 9). The algorithm for ICD-10 childhood autism comprised 91 individual, operationally defined items covering the behaviour outlined in the ICD-10 research criteria. The algorithm for the autistic spectrum disorder, as defined by Wing and Gould (1979), was based on 5 DISCO items that represented overarching categories of behaviour crucial for the diagnosis of autistic disorders. The aim of the study was to examine the implications for clinical diagnosis of these two different approaches. Parents of 36 children with clinical diagnoses of autistic disorder, 17 children with learning disability and 14 children with language disorders were interviewed by two interviewers. Algorithm diagnoses were applied to interview items in order to analyse the relationship between clinical and algorithm diagnoses and the inter-rater reliability between interviewers. RESULTS: Clinical diagnosis was significantly related to the diagnostic outputs for both algorithms. Inter-rater reliability was also high for both algorithms. The ICD childhood disorder algorithm produced more discrepant diagnoses than the Wing and Gould autistic spectrum algorithm. Analysis of the ICD-10 algorithm items and combination of items helped to explain the reason for these discrepancies. CONCLUSIONS: The results indicate that the DISCO is a reliable instrument for diagnosis when sources of information are used from the whole interview. It is particularly effective for diagnosing disorders of the broader autistic spectrum.