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This article describes a systematic approach to subgroup classification based on a classification framework and sequential steps involved in the subgrouping process. The sequential steps are stating the purpose of the classification, identifying the classification elements, using relevant information, and using clearly stated and purposeful subgroup classification terms. This systematic approach reflects current changes in the field of intellectual disability (ID), the modern and social understanding of ID, and the multiple purposes for classification.

The field of intellectual and developmental disabilities (IDD) is currently experiencing a significant transformation that encompasses an integrated approach, especially regarding shared aspects such as a focus on the human and legal rights, the eligibility for services and supports, and an emphasis on individualized supports provided within inclusive community-based environments. Accompanying this transformation is the increased need of precision in both the operational definitions of IDD-related constructs, and the terminology used to describe the respective construct. the specialized literature was revised, and previous works on the subject by the authors were updated. This article provides psychologists with the current definition of intellectual disability, operational definitions of intellectual disability and developmental disabilities constructs and associated terminology, and the parameters of an integrated approach to disability. Implications for psychologists who are involved in diagnosis, classification, and planning supports for persons with intellectual or developmental disability are discussed.

ObjectivesTo investigate the prevalence of multimorbidity in adults with intellectual disabilities with and without Down syndrome.DesignLarge, population-based cross-sectional study.SettingThe geographical area of one Health Board, Scotland.ParticipantsAll adults (aged 16+ years) known to general practitioners to have intellectual disabilities and adults receiving services provided or paid by intellectual disabilities health or social work services. 1023/1562 potential participants took part (65.5%); 562 (54.9%) men and 461 (45.1%) women, aged 43.9 years (16–83 years). 186 had Down syndrome and 837 did not.Main outcome measuresThe prevalence of International Statistical Classification of Diseases, 10th revision, physical health conditions and multimorbidity detected at a comprehensive health assessment.ResultsThe mean number of physical health conditions/participant was 11.04, and 98.7% had multimorbidity. The most prevalent conditions are painful and/or disabling and, in some cases, life threatening. The five most prevalent were visual impairment, obesity, epilepsy, constipation and ataxic/gait disorders. The pattern of multimorbidity differs from that seen in the general population and is spread across the entire adult life course. The extent of multimorbidity in the adults with Down syndrome was similar to that of the adults without Down syndrome, while the prevalence of individual conditions differed.ConclusionsThis robustly designed study with a large population found an extremely high prevalence of multimorbidity in adults with intellectual disabilities across the entire adult life course. This increases complexity of medical management that secondary healthcare services and medical education are not yet geared towards, as these tend to focus on single conditions. This is in addition to complexity due to limitations in communication and understanding. As the physical conditions within their multimorbidity also differ from that seen in the older general population, urgent attention is needed to develop the care pathways and guidelines that are required to inform and so improve their healthcare.

We examined special education classifications among students aged 3–21 in North Carolina public schools, highlighting autism spectrum disorder (ASD) and intellectual disability (ID). Results revealed variability by county in ASD and ID prevalence, and in county-level ratios of ID vs. ASD classifications. Sociodemographic characteristics predicted proportion of ASD or ID within a county; correlations showed an association between race and ID, but not ASD. County’s median household income predicted proportion of students classified as ASD and ID (opposite directions), controlling for number of students and gender. Variability was unlikely related to biological incidence, and more likely related to district/school practices, or differences in resources. Disparities warrant further examination to ensure that North Carolina’s youth with disabilities access necessary, appropriate resources.

Cut-offs derived from baseline cognitive assessments, stratified by intellectual disability (ID) level, have been proposed to diagnose symptomatic Alzheimer's disease (AD) in Down syndrome (DS). However, discrepancies in ID classification risk misclassification when applying cut-offs across sites. This dual-center cohort study included 673 adults with mild to moderate ID at different AD stages. We assessed ID classification discrepancies across sites and its impact on CAMCOG-DS cut-offs for AD dementia diagnosis derived from ROC analysis. Inter-rater agreement for ID level classification was 95% within sites but 60% between sites. While CAMCOG-DS score distributions in the whole cohort were similar across sites, ID classification discrepancies caused higher cut-offs in Barcelona for mild and moderate ID compared to Munich. Applying site-specific cut-offs to another cohort reduced sensitivity and specificity. Standardizing ID classification is critical for generalizable cut-offs to accurately diagnose AD dementia based on neuropsychological assessments in DS.

Adults with intellectual and developmental disabilities (I/DD) are increasingly presenting to their health care professionals with concerns related to growing older. One particularly challenging clinical question is related to the evaluation of suspected cognitive decline or dementia in older adults with I/DD, a question that most physicians feel ill-prepared to answer. The National Task Group on Intellectual Disabilities and Dementia Practices was convened to help formally address this topic, which remains largely underrepresented in the medical literature. The task group, comprising specialists who work extensively with adults with I/DD, has promulgated the following Consensus Recommendations for the Evaluation and Management of Dementia in Adults With Intellectual Disabilities as a framework for the practicing physician who seeks to approach this clinical question practically, thoughtfully, and comprehensively.

Objective The objective was to explore the characteristics of risk factors in children with cerebral palsy (CP), focusing on the effects of single risk factors and the number of risk factors on the classification, GMFCS level, and comorbidities of children with CP. Methods The medical records of children with CP hospitalized from 2015 to 2023 were reviewed. The effects of nine risk factors, such as hyperbilirubinemia, asphyxia, and HIE, on the classification, GMFCS level and comorbidities of children with CP were studied. Results In Part 1, among the 536 children with CP, 476 (88.8%) had obvious risk factors. Preterm birth and/or low birth weight were the most common risk factor (243 cases (45.3%)). CP combined with two risk factors was the most common, with 147 cases (27.4%). In Part 2, neonatal seizures were associated with epilepsy, and HIE and hyperbilirubinemia were associated with intellectual disability. Asphyxia was associated with high GMFCS levels and mixed CP. Preterm birth and/or low birth weight was associated with spastic diplegia, and hyperbilirubinemia was associated with involuntary movement. In Part 3, the number of risk factors in children with CP with epilepsy and/or hearing impairment seemed to be lower, but those with spastic quadriplegia were more likely to have more risk factors (≥ 4). In the six groups with 1–6 risk factors, intellectual disability and a GMFCS level ≥ level IV were more common in the various risk factor groups, but spastic hemiplegia and ataxia were less common. Conclusion Most children with CP have apparent risk factors, and the combination of two risk factors is relatively common. Preterm birth/low birth weight is the most common risk factor. The analysis of single risk factors revealed that the risk factors were related to the classification, GMFCS level and comorbidities. This correlation is consistent with the current research. Risk factors were more common in children with severe CP, high GMFCS levels, spastic quadriplegia, and intellectual disability.

Background Massively parallel genetic sequencing allows rapid testing of known intellectual disability (ID) genes. However, the discovery of novel syndromic ID genes requires molecular confirmation in at least a second or a cluster of individuals with an overlapping phenotype or similar facial gestalt. Using computer face-matching technology we report an automated approach to matching the faces of non-identical individuals with the same genetic syndrome within a database of 3681 images [1600 images of one of 10 genetic syndrome subgroups together with 2081 control images]. Using the leave-one-out method, two research questions were specified: Using two-dimensional (2D) photographs of individuals with one of 10 genetic syndromes within a database of images, did the technology correctly identify more than expected by chance: i) a top match? ii) at least one match within the top five matches? or iii) at least one in the top 10 with an individual from the same syndrome subgroup? Was there concordance between correct technology-based matches and whether two out of three clinical geneticists would have considered the diagnosis based on the image alone? Results The computer face-matching technology correctly identifies a top match, at least one correct match in the top five and at least one in the top 10 more than expected by chance ( P  < 0.00001). There was low agreement between the technology and clinicians, with higher accuracy of the technology when results were discordant ( P  < 0.01) for all syndromes except Kabuki syndrome. Conclusions Although the accuracy of the computer face-matching technology was tested on images of individuals with known syndromic forms of intellectual disability, the results of this pilot study illustrate the potential utility of face-matching technology within deep phenotyping platforms to facilitate the interpretation of DNA sequencing data for individuals who remain undiagnosed despite testing the known developmental disorder genes.

Background Persons with mild intellectual disability or borderline intellectual functioning are often studied as a single group with similar characteristics. However, there are indications that differences exist within this population. Therefore, the aim of this study was to identify classes of persons with mild intellectual disability or borderline intellectual functioning and to examine whether these classes are related to individual and/or environmental characteristics. Methods Latent class analysis was performed using file data of 250 eligible participants with a mean age of 26.1 ( SD 13.8, range 3–70) years. Results Five distinct classes of persons with mild intellectual disability or borderline intellectual functioning were found. These classes significantly differed in individual and environmental characteristics. For example, persons with a mild intellectual disability experienced fewer problems than those with borderline intellectual disability. Conclusions The identification of five classes implies that a differentiated approach is required towards persons with mild intellectual disability or borderline intellectual functioning.

Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis–ptosis–intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels. To date, six patients with either missense mutations affecting the UBE3B HECT domain or truncating mutations have been described. Here, we report on the identification of homozygous or compound heterozygous UBE3B mutations in six additional patients from five unrelated families using either targeted UBE3B sequencing in individuals with suggestive facial dysmorphic features, or exome sequencing. Our results expand the clinical and mutational spectrum of the UBE3B -related disorder in several ways. First, we have identified UBE3B mutations in individuals who previously received distinct clinical diagnoses: two sibs with Toriello–Carey syndrome as well as the patient reported to have a “new” syndrome by Buntinx and Majewski in 1990. Second, we describe the adult phenotype and clinical variability of the syndrome. Third, we report on the first instance of homozygous missense alterations outside the HECT domain of UBE3B, observed in a patient with mildly dysmorphic facial features. We conclude that UBE3B mutations cause a clinically recognizable and possibly underdiagnosed syndrome characterized by distinct craniofacial features, hypotonia, failure to thrive, eye abnormalities, other congenital malformations, low cholesterol levels, and severe intellectual disability. We review the UBE3B -associated phenotypes, including forms that can mimick Toriello–Carey syndrome, and suggest the single designation “Kaufman oculocerebrofacial syndrome”.