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This paper aims to describe the way in which autism spectrum disorder (ASD) is identified, defined and diagnosed; and how changes in the conceptualisation and understanding of autism have impacted on clinical practice and research findings. Specific issues relating to the nature of Asperger syndrome and the profile of females with ASD are discussed. Finally, the apparent increase over time in the incidence of autism is considered.

The paper is a non‐systematic review of the current literature relating to the diagnosis and epidemiology of autism.

Despite its diverse presentation and complex aetiology, the autism spectrum is increasingly well understood amongst professionals and the general public. Diagnostic criteria are revised periodically and new versions of the formal definitions are due to be published soon. The prevalence of ASD appears to be in the region of 1 per cent. There is a clear perception that the true incidence of autism is on the increase and, despite several well‐conducted epidemiological studies, it remains impossible to confirm or refute this notion.

Diagnosis in clinical practice should involve some reference to the formal criteria, the use of standardised diagnostic instruments and should ideally take place within a multi‐disciplinary team setting.

This paper provides an up‐to‐date review of current diagnostic practice for all professionals working with children and adults with ASD.

Purpose – The purpose of this chapter is to theorize the relationship between diagnosis and medicalization through an examination of the medicalization of childhood gender variance and the Gender Identity Disorder of Childhood diagnosis.

Methodology/approach – The chapter examines textual data (published clinical and research literatures, and critiques of the diagnosis appearing in a range of venues) to track how childhood gender variance is medicalized over time and the role of diagnosis in that medicalization.

Findings – While diagnosis certainly plays a role in shoring up medicalization, this case study reveals the many ways in which diagnoses may also become key tools in attempts to curtail medicalization.

Research limitations/implications – As a case study, the findings are not generalizable to all diagnoses. As a study of an instance of the medicalization of deviance, these findings may be particularly applicable to analogous cases.

Social implications – These findings show the sometimes tenuous nature of medicalization processes, and the social uses of diagnoses in those processes.

Originality/value of paper – This chapter sheds light on a relationship that is often assumed to be unidirectional (e.g., that the formation of diagnosis results in increased medicalization), and answers calls for a more nuanced sociology of diagnosis, including greater attention to the relationship between diagnosis and medicalization.

This chapter is a comprehensive discussion of autism spectrum disorder (ASD) across the globe (e.g., United States, China, Brazil, Japan and Turkey). Topics that are discussed include the following: diagnostic criteria and approaches; international perspectives of ASD; western and eastern assessment practices; cultural considerations of assessment of ASD; educational and medical interventions; behavioral and emotional interventions; complementary and alternative medical interventions; variations in educational services among countries; early intervention practices; adult services; national and international resources; and current needs and future directions.

Associations between fetal alcohol syndrome (FAS) and other conditions have been reported, but the links between FAS and autistic spectrum disorders (ASD) remain unclear. This study explored the relationship between FAS and ASD in individuals attending a specialist diagnostic clinic. Consecutive referrals over 24 months to a specialist neurodevelopmental clinic were evaluated using gold standard methods for FAS diagnosis and ASD. The first 18‐month cohort who met criteria for ASD were compared with controls attending the same clinic but who had not experienced prenatal alcohol exposure (nested data). Data for the whole group were also collected. Twenty‐one fetal alcohol spectrum disorder (FASD) individuals were assessed and 16 (72%) met ICD‐10 criteria for childhood autism. Further significant differences between the prenatally exposed and non‐exposed group with ASD were found in the nested study. The research shows an association between heavy prenatal alcohol exposure and ASD. As this is a small sample in a specialist clinic, the study suggests that a larger, more population‐based study of those exposed to heavy prenatal alcohol is warranted.

Widely varying rates for the prevalence of psychiatric disorder have been reported in the previous published literature. The aims of this study were to describe the prevalence of psychiatric disorders in a random sample of adults with moderate to profound learning disabilities living in the community, and to explore the socio‐clinical factors associated with psychiatric disorders.A process of active case finding was undertaken to identify adults with learning disabilities. A random sample of 240 was taken of whom 121 were found to have moderate to profound learning disabilities at interview. Information was collected on socio‐demographics, service use, physical health, medication use, and life events. Standardised instruments were used to assess psychiatric symptoms, problem behaviour, and severity of learning disabilities. Diagnoses were generated using four diagnostic systems: clinical, DC‐LD, DCR‐10 and DSM‐IV.Higher rates of psychiatric disorder are reported than in previous published studies in the general population and in studies with people with learning disabilities living in the community. Further investigation of the effect of diagnostic system on prevalence rates, and associations of psychiatric disorder are warranted.

This paper aims to compare the prevalence of metabolic syndrome (MetS) on the basis of three criteria. The diagnostic criteria adopted were those of the International Diabetes Federation, the National Cholesterol Education Program – Adult Treatment Panel III and the American Heart Association/National Heart, Lung and Blood Institute..

A transversal study was undertaken with 691 university students in Fortaleza, Brazil, in 2011-2013.

The prevalence of MetS varied considerably according to the criteria used, it being 4.1 per cent for the IDF, 0.7 per cent for the NCEP ATPIII and 1.7 per cent for the revised NCEP ATPIII. The criteria of the IDF presented reasonable agreement in relation to the NCEP ATP III (0.294) and revised NCEP ATP III (0.334). Moderate agreement was found between the NCEP ATPIII/revised NCEP ATPIII.

There is a need for a universal diagnostic criterion for MetS to obtain uniform and more reliable data for the elaboration of public health policies.

The paper aims to provide an overview of the current situation with diagnosis and assessment in autism spectrum disorders (ASD).

The paper is a review of literature combined with personal observation of practice.

Diagnosis cannot be determined by any one tool. It is a clinical judgement. A solo experienced clinician can make a diagnosis. Wider assessment is needed post diagnosis and needs a team.

Specialist multidisciplinary teams to assess people with ASD should be set up for adults as well as for children.

The paper is of value to those who are designing and providing diagnostic and assessment services. It provides a new review, covering a wider area.

The purpose of this paper is to assess the prevalence and nature of presentation of unipolar depression in individuals with Down syndrome (DS).

The PRISMA (2009) checklist for systematic review was followed where possible.

Eight studies were included in the qualitative synthesis from a total of 634 records identified. The quality of the studies was then assessed: the studies all scored either 5 or 6 out of 6. The incidence of depression ranged between studies from 5 to 13 per cent. It was found that depression is more common in DS than the general intellectual disability population; this on a background of mental ill health of all causes being less common in DS. It was suggested that, excluding organic disorders, depression is the most common psychiatric problem in DS. In terms of the nature of depression, the evidence was less clear. Various “vegetative” and biological symptoms were observed, with no fixed pattern. There was evidence for withdrawal symptoms and psychosis.

The small number of studies included in this review, and their heterogeneity, highlights the need for further original research in this field.

An increased awareness of the frequency of depression in individuals with DS will aid in a timely diagnosis, therefore reduce psychiatric morbidity. Clinicians should be aware of the varied presentation, with no clear clinical picture, in order to maintain a high index of suspicion in an individual presenting with “atypical” symptoms.

This review has provided preliminary evidence that depression may be the most commonly experienced psychiatric disorder in DS.

Evidence suggests high rates of psychiatric disorders in bariatric surgery candidates (e.g. Mitchell et al., 2012), although no rigorous studies have examined the prevalence in a Canadian sample. Improved understanding of the prevalence of psychopathology among female patients is an important area of study, as females comprise approximately 80 percent of surgical candidates (Martin et al., 2010; Padwal, 2005). The purpose of this paper is to assess the prevalence of Axis I disorders and associations with quality of life in a Canadian sample of female bariatric surgery candidates.

Female patients (n=257) were assessed using a structured psychodiagnostic interview and completed a health-related quality of life questionnaire.

Results indicated that 57.2 percent of patients met DSM-IV-TR criteria for a lifetime psychiatric disorder and 18.3 percent met criteria for a current psychiatric disorder. Major depressive disorder was the most common lifetime psychiatric disorder (35.0 percent) and binge eating disorder was the most prevalent current psychiatric disorder (6.6 percent). Patients scored significantly lower than Canadian population norms on all domains of the SF-36 (all p's<0.001). Patients with a current Axis I disorder also reported significantly worse functioning on four mental health domains and one physical health domain (p's<0.01) compared to patients without a current Axis I disorder.

Results confirm high rates of psychiatric disorders in Canadian female bariatric surgery candidates and provide evidence for associated functional health impairment. Further study is needed to elucidate how pre-operative psychopathology may impact female patients’ post-operative outcomes.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder that is difficult to diagnose accurately due to its heterogeneous clinical manifestations. Comprehensive models combining different big data approaches (e.g. neuroimaging, genetics, eye tracking, etc.) may offer the opportunity to characterize ASD from multiple distinct perspectives. This paper aims to provide an overview of a novel diagnostic approach for ASD classification and stratification based on these big data approaches.

Multiple types of data were collected and recorded for three consecutive years, including clinical assessment, neuroimaging, gene mutation and expression and response signal data. The authors propose to establish a classification model for predicting ASD clinical diagnostic status by integrating the various data types. Furthermore, the authors suggest a data-driven approach to stratify ASD into subtypes based on genetic and genomic data.

By utilizing complementary information from different types of ASD patient data, the proposed integration model has the potential to achieve better prediction performance than models focusing on only one data type. The use of unsupervised clustering for the gene-based data-driven stratification will enable identification of more homogeneous subtypes. The authors anticipate that such stratification will facilitate a more consistent and personalized ASD diagnostic tool.

This study aims to utilize a more comprehensive investigation of ASD-related data types than prior investigations, including proposing longitudinal data collection and a storage scheme covering diverse populations. Furthermore, this study offers two novel diagnostic models that focus on case-control status prediction and ASD subtype stratification, which have been under-explored in the prior literature.