Dementia diagnostic criteria in Down syndrome.

OBJECTIVE: Dementia is a common clinical presentation among older adults with Down syndrome. The presentation of dementia in Down syndrome differs compared with typical Alzheimer's disease. The performance of manualised dementia criteria in the International Classification of Diseases (ICD)-10 and Diagnostic and Statistical Manual of Mental Disorders-IV-Text Revision (DSM-IV-TR) is uncertain in this population.We aimed to determine the concurrent validity and reliability of clinicians' diagnoses of dementia against ICD-10 and DSM-IV-TR diagnoses. Validity of clinical diagnoses were also explored by establishing the stability of diagnoses over time. METHODS: We used clinical data from memory assessments of 85 people with Down syndrome, of whom 64 (75.3%) had a diagnosis of dementia. The cases of dementia were presented to expert raters who rated the case as dementia or no dementia using ICD-10 and DSM-IV-TR criteria and their own clinical judgement. RESULTS: We found that clinician's judgement corresponded best with clinically diagnosed cases of dementia, identifying 84.4% cases of clinically diagnosed dementia at the time of diagnosis. ICD-10 criteria identified 70.3% cases, and DSM-IV-TR criteria identified 56.3% cases at the time of clinically diagnosed dementia. Over time, the proportion of cases meeting ICD-10 or DSM-IV-TR diagnoses increased, suggesting that experienced clinicians used their clinical knowledge of dementia presentation in Down syndrome to diagnose the disorder at an earlier stage than would have been possible had they relied on the classic description contained in the diagnostic systems. CONCLUSIONS: Clinical diagnosis of dementia in Down syndrome is valid and reliable and can be used as the standard against which new criteria such as the DSM-5 are measured.

Alcohol-related problems in adolescents and adults with intellectual disabilities.

PURPOSE OF REVIEW: Alcohol is widely available and one of the most commonly used psychoactive substances. This review examined the recent literature for empirical research addressing the cause, prevalence and treatment of alcohol-related problems in adolescents and adults with intellectual disabilities. RECENT FINDINGS: Adequate controlled research has not been conducted, and most of the studies were epidemiological and inconclusive. Despite the high variation in the reported prevalence in alcohol use and misuse rates, most published studies document that adolescents and adults with intellectual disabilities consume alcohol at substantially lower rates than the general population. Few treatment interventions have been reported, but limitations in the study design outline the emphasis for future research. SUMMARY: Alcohol misuse affects the physical and mental health of people with intellectual disabilities, leading to behavioural and social difficulties. Assessment and treatment of alcohol-related problems pose ethical considerations. Uncertainty surrounds the ability of alcohol services, and services for individuals with intellectual disabilities respectfully, to meet the needs of this population. Modification of existing treatment approaches, further staff training and development of liaison approach between alcohol services and services for people with intellectual disabilities need further evaluation of their effectiveness.

Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.

Chromosomal copy-number variations (CNVs) are a class of genetic variants highly implicated in the aetiology of neurodevelopmental disorders, including intellectual disabilities (ID), schizophrenia and autism spectrum disorders (ASD). Yet the majority of adults with idiopathic ID presenting to psychiatric services have not been tested for CNVs. We undertook genome-wide chromosomal microarray analysis (CMA) of 202 adults with idiopathic ID recruited from community and in-patient ID psychiatry services across England. CNV pathogenicity was assessed using standard clinical diagnostic methods and participants underwent comprehensive medical and psychiatric phenotyping. We found an 11% yield of likely pathogenic CNVs (22/202). CNVs at recurrent loci, including the 15q11-q13 and 16p11.2-p13.11 regions were most frequently observed. We observed an increased frequency of 16p11.2 duplications compared with those reported in single-disorder cohorts. CNVs were also identified in genes known to effect neurodevelopment, namely NRXN1 and GRIN2B. Furthermore deletions at 2q13, 12q21.2-21.31 and 19q13.32, and duplications at 4p16.3, 13q32.3-33.3 and Xq24-25 were observed. Routine CMA in ID psychiatry could uncover ~11% new genetic diagnoses with potential implications for patient management. We advocate greater consideration of CMA in the assessment of adults with idiopathic ID presenting to psychiatry services.

Mental ill-health and care pathways in adults with intellectual disability across different residential types.

The aim of this study was to investigate co-morbid psychopathology and clinical characteristics of adults with ID living across different types of residential settings. All participants were first time referrals to specialist services in South-East London who lived either with their family (N=375) or in supported residence (N=280) or independently (N=95). Psychiatric diagnoses were based on ICD 10 criteria following clinical interviews with key informants and patients. Logistic regression analyses showed that personality disorders were more likely to be diagnosed in people who lived independently or in supported residence, while anxiety disorders were more likely in those living with their family. Overall, those who lived in independent residence had higher rates of co-morbid psychopathology. These effects were independent of ID level and age differences. Younger adults were more likely to live with their families while those with higher ID level were about 17 times more likely to live independently. The largest proportion of referrals to outpatients lived in independent residence although there were no significant differences in other care pathways. The findings are discussed in terms of implications for service planning and development.