Some evidence of health disparities was found for older people with ID, particularly in terms of underdiagnosed or inadequately managed preventable health conditions.

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-The mental health, adaptive behaviour and intellectual abilities of people with Down syndrome (n=129) were evaluated in a population-based survey of social and health care records. Females had better cognitive abilities and speech production compared with males. Males had more behavioural problems than females. Behaviour suggestive of attention deficit hyperactivity disorder was often seen in childhood. Depression was diagnosed mainly in adults with mild to moderate intellectual disability. Autistic behaviour was most common in individuals with profound intellectual disability. Elderly people often showed decline of adaptive behaviour associated with Alzheimer's disease. Case descriptions are presented to illustrate the multitude of mental health and behavioural issues seen from childhood to old age in this population.

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Background Despite progress in the process of deinstitutionalisation, very little is known about the health conditions of people with intellectual disability (PWID) who live in large institutions and PWID living in small residential services, family homes or independent living within the community. Furthermore, there are no international comparison studies at European level of the health status and health risk factors of PWID living in fully staffed residential services with formal support and care compared with those living in unstaffed family homes or independent houses with no formal support. Methods A total of 1269 persons with ID and/or their proxy respondents were recruited and face-to-face interviewed in 14 EU countries with the P15, a multinational assessment battery for collecting data on health indicators relevant to PWID. Participants were grouped according to their living arrangements, availability of formal support and stage of deinstitutionalisation. Results Obesity and sedentary lifestyle along with a number of illnesses such as epilepsy, mental disorders, allergies or constipation were highly prevalent among PWID. A significantly higher presence of myocardial infarctions, chronic bronchitis, osteoporosis and gastric or duodenal ulcers was found among participants in countries considered to be at the early stage of deinstitutionalisation. Regardless of deinstitutionalisation stage, important deficits in variables related to such medical health promotion measures as vaccinations, cancer screenings and medical checks were found in family homes and independent living arrangements. Age, number of people living in the same home or number of places in residential services, presence of affective symptoms and obesity require further attention as they seem to be related to an increase in the number of illnesses suffered by PWID. Discussion Particular illnesses were found to be highly prevalent in PWID. There were important differences between different living arrangements depending on the level of formal support available and the stage of deinstitutionalisation. PWID are in need of tailored primary health programs that guarantee their access to quality health and health promotion and the preventative health actions of vaccination programs, systematic health checks, specific screenings and nutritional controls. Extensive national health surveys and epidemiological studies of PWID in the EC member states are urgently needed in order to reduce increased morbidity rates among this population.

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The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the contribution of ARID. Here, we used a genotype-driven approach to study the genetic landscape of ID in the founder population of Finland. A total of 39 families with syndromic and non-syndromic ID were analyzed using exome sequencing, which revealed a variant in a known ID gene in 27 families. Notably, 75% of these variants in known ID genes were de novo or suspected de novo (64% autosomal dominant; 11% X-linked) and 25% were inherited (14% autosomal recessive; 7% X-linked; and 4% autosomal dominant). A dual molecular diagnosis was suggested in two families (5%). Via additional analysis and molecular testing, we identified three cases with an abnormal molecular karyotype, including chr21q22.12q22.2 uniparental disomy with a mosaic interstitial 2.7 Mb deletion covering DYRK1A and KCNJ6. Overall, a pathogenic or likely pathogenic variant was identified in 64% (25/39) of the families. Last, we report an alternate inheritance model for 3 known ID genes (UBA7, DDX47, DHX58) and discuss potential candidate genes for ID, including SYPL1 and ERGIC3 with homozygous founder variants and de novo variants in POLR2F and DNAH3. In summary, similar to other European populations, de novo variants were the most common variants underlying ID in the studied Finnish population, with limited contribution of ARID to ID etiology, though mainly driven by founder and potential founder variation in the latter case.

Purpose Pathogenic variants in SETD1B have been associated with a syndromic neurodevelopmental disorder including intellectual disability, language delay, and seizures. To date, clinical features have been described for 11 patients with (likely) pathogenic SETD1B sequence variants. This study aims to further delineate the spectrum of the SETD1B-related syndrome based on characterizing an expanded patient cohort. Methods We perform an in-depth clinical characterization of a cohort of 36 unpublished individuals with SETD1B sequence variants, describing their molecular and phenotypic spectrum. Selected variants were functionally tested using in vitro and genome-wide methylation assays. Results Our data present evidence for a loss-of-function mechanism of SETD1B variants, resulting in a core clinical phenotype of global developmental delay, language delay including regression, intellectual disability, autism and other behavioral issues, and variable epilepsy phenotypes. Developmental delay appeared to precede seizure onset, suggesting SETD1B dysfunction impacts physiological neurodevelopment even in the absence of epileptic activity. Males are significantly overrepresented and more severely affected, and we speculate that sex-linked traits could affect susceptibility to penetrance and the clinical spectrum of SETD1B variants. Conclusion Insights from this extensive cohort will facilitate the counseling regarding the molecular and phenotypic landscape of newly diagnosed patients with the SETD1B-related syndrome.