To explore the association between 24-h movement behaviours and fundamental motor skills in children with intellectual disabilities using compositional data analyses and to investigate the 'dose-effect' characteristics of the reallocation between 24-h movement behaviours and fundamental motor skills. A cross-sectional study was conducted among 306 children with intellectual disabilities aged 6-10 years from 12 special education schools in Beijing and Jinan between 10 September 2023 and 27 March 2024. The ActiGraph GT3X+ accelerometer was used to estimate the amount of time spent in 24-h movement behaviours. The Test of Gross Motor Development-2 was applied to assess fundamental motor skills. The compositional isotemporal substitution was utilized to analyse the relationship between 24-h movement behaviours and fundamental motor skills. (1) After controlling the gender, age and intellectual disability level, MVPA of children with intellectual disabilities was positively associated with their FMS total score, locomotor skills and object control skills (βFMS = 7.70, βlocomotor = 3.68, βobject control = 4.01, all p < 0.01). Additionally, SB was negatively correlated with their FMS total score, locomotor skills and object control skills (βFMS = -5.40, βlocomotor = -2.00, βobject control = -3.39, all p < 0.01). (2) According to the 'dose-response' curves, the mutual substitution of MVPA and other movement behaviours had an asymmetric effect on FMS, while the mutual substitution of LPA and SB had a symmetrical effect on FMS among children with intellectual disabilities. Furthermore, it was demonstrated that replacing SB with MVPA had the best-improving effect on the FMS of children with intellectual disabilities. Special education school administrators, teachers, parents and guardians should consider 24-h movement behaviours as a whole and pay attention to their impact on children with intellectual disabilities. In the process of promoting FMS in children with intellectual disabilities, ensuring adequate sleep and trying to reallocate time from SB to MVPA and LPA may be effective methods.

The Psychological Therapies Outcome Scale-Intellectual Disabilities-II (PTOS-ID-II) is a 29-item self-report measure developed to assess psychological distress and positive well-being in people with an intellectual disability. While initial validation demonstrated promising psychometric properties, further replication in a larger sample was needed, and incorporating insights gained from routine clinical use over the years since its initial implementation. A quantitative cross-sectional design was utilised to test the psychometric properties of the PTOS-ID-II using data collected from routine clinical practice from adults with intellectual disabilities (n = 879) accessing a community health service. Subsequent analyses included dimensionality reduction (via principal component analysis and confirmatory factor analysis), assessment of internal consistency, concurrent validity and receiver operating characteristic analysis. Analyses were guided by a primer on the development of health outcome measures. Exploration of the proposed factor structure of the PTOS-ID-II indicated that two of the items were problematic and subsequently removed. The new 27-item measure was rebranded 'the Outcomes for Wellbeing and Distress Scale' (OWLS-ID). Analysis of the measure identified and confirmed a three-component model: (1) Positive Well-being, (2) Emotional and Behavioural Discomfort and (3) Anxiety. Internal consistency was good to acceptable. Items related to Emotional and Behavioural Discomfort and Anxiety were combined to create a measure of psychological distress. Concurrent validity between distress as measured using the OWLS-ID and Brief Symptoms Inventory was strong. A cut of 11.5 had acceptable sensitivity (0.85) and specificity (0.9). Analysis of missing data suggested that item acceptability was high. The OWLS-ID is one of the most comprehensively tested patient-reported outcome measures to date, which was developed specifically for individuals with an intellectual disability. Its implications for clinical practice and future research are discussed.

Post-diagnostic support is a critical yet underdeveloped aspect of dementia care, especially for autistic adults who present with distinct cognitive, sensory, and communication needs. Although interventions such as medication management, psychosocial support, environmental modifications, and carer training are known to improve outcomes, their relevance and accessibility for autistic individuals remain poorly understood. As part of the Second International Summit on Intellectual Disability and Dementia, an international working group examined the intersection of autism and dementia with a focus on post-diagnostic care. Drawing on interdisciplinary expertise, the group identified key barriers and opportunities in clinical practice, caregiving, and service delivery. Recommendations are organized across seven areas, including models of post-diagnostic support, caregiving contexts, pharmacological and non-pharmacological interventions, environmental adaptations, and care planning. The discussion emphasizes the complex needs of autistic adults-many of whom have co-occurring intellectual disabilities, psychiatric conditions, or chronic health issues-and the need for individualized approaches that account for sensory sensitivities and communication differences. Existing dementia care frameworks often fail to address these complexities, resulting in significant service gaps. The report calls for urgent investment in research, workforce training, and policy reform to promote equitable, autism-informed post-diagnostic support and improve quality of life for this underserved population.Lay AbstractAutistic adults who develop dementia often experience challenges that are not well addressed by current dementia care systems. After a dementia diagnosis, people may need help with memory, communication, behavior changes, and daily living. For autistic adults, these supports must be adapted to their individual sensory sensitivities, communication styles, and social differences. This article reports on the work of an international group of researchers, clinicians, and advocates who met during the Second International Summit on Intellectual Disability and Dementia. The group examined how post-diagnostic support for autistic adults with dementia could be improved. They reviewed existing evidence, identified key barriers to care, and proposed strategies to strengthen services in areas such as medication use, environmental design, caregiver training, and personalized care planning. The report emphasizes that many autistic adults also have intellectual disabilities, mental health conditions, or long-term physical health issues, which can make care more complex. Current dementia care frameworks often overlook these overlapping needs, resulting in limited or unsuitable supports. The authors call for more research, workforce training, and autism-informed policy changes to ensure that post-diagnostic care is equitable, individualized, and responsive. Enhancing understanding and adapting support can help autistic adults with dementia maintain dignity, comfort, and quality of life.

Adults with intellectual disabilities (IDs), particularly those who reside in community living arrangements (CLAs), are at high risk for these chronic diseases. Sedentary behaviour (SB) is an emergent, independent risk factor for several chronic diseases including cardiovascular and metabolic conditions. SB may represent a potent behavioural target to mitigate chronic disease risk in adults with ID who live in CLAs. Limiting the development of interventions to address SB is a lack of understanding of device-estimated SB patterns. Also not clear are the individual-level determinants of SB in this high-risk group of CLA residents with ID. The current study sought to address these knowledge gaps. A cross-sectional observational study design was used to characterize SB patterns and individual-level determinants of SB in adults with ID living in CLAs. Thirty-eight adults from 24 different CLAs wore activPAL devices for 1 week to enable device estimates of SB. activPAL data were processed, and the study outcomes of daily time spent in SB, SB bout lengths, sedentary breaks and prolonged SB were generated. Participants also completed an online survey to assess individual factors, which included demographics, independence, programming and health status. Univariate statistics were used to describe SB patterns and logistic regression models were used to ascertain the association between individual factors and SB variables. On average, the sample were aged 44.79 years (SD = 14.9), and 60.53% were male. The sample were highly sedentary: 47.37% engaged in prolonged SB, the daily average time in SB was 7.46 h (SD = 2.18), and an average of 32.4 daily SB bouts (95% CI = 28.9, 35.9) lasted 17.7 min (95% CI = 13.8, 21.7). Participants requiring more assistance with ADLs were more likely to have longer uninterrupted sedentary bouts (95% CI = 0.169, 1.721; β = 0.945; p = 0.018) and total daily duration of SB (95% CI = 4.58, 20.21; β = 12.394; p = 0.003). Those with less than a high school education had sedentary bouts that were ~15 min longer (95% CI = 3.21, 25.69; p = 0.013). Adults with ID living in CLAs spent almost 8 h of their waking day in SB. Those with lower levels of independence and education were more likely to have higher levels of SB. CLAs may represent a critical opportunity for targeted, place-based interventions to reduce time spent in SB.

Healthcare decision-making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers. Clinical practice guideline recommendations for managing RGNDs should align with the values of individuals and their families/caregivers; this requires the use of an appropriate Evidence-to-Decision framework in guideline development. This review aims to describe what individuals with RGNDs associated with ID and their family/caregivers value in healthcare and healthcare decision-making. This scoping review aimed to map the available evidence on individual and family/caregiver values in healthcare for RGNDs to inform guideline development. MEDLINE, Embase, PsycINFO and CINAHL were systematically searched for literature published from 2000 to 2025, with the final search conducted on 1 June 2025. Studies reporting primary qualitative data on individuals with RGNDs and/or their family/caregivers in the context of healthcare were eligible for inclusion. Inductive content analysis was conducted to map values in healthcare and healthcare decision-making. One hundred twenty-five articles were included. Most studies reported on the perspectives of families/caregivers and on relatively more common conditions, in particular Down syndrome. Important values included autonomy, person-centredness, feasibility, competence of and connection with the healthcare professional and accessibility, coordination and absence of stigma on the level of the healthcare system and society. In healthcare decision-making, benefits and harms both on an individual and on the family level were balanced alongside uncertainty, priority of health issues and identity-related considerations. Guideline developers should address issues that matter to individuals with RGNDs and their families/caregivers during Evidence-to-Decision processes, such as family-level impact and identity-related considerations. Further research is needed to capture perspectives of individuals with ID, which are underrepresented compared to family/caregivers.

Lifetime psychedelic use and opioid use disorder severity in a National Survey: the roles of psychedelic type and mental health.

Adults with epilepsy and intellectual disabilities (ID) may be at risk of adaptive and cognitive decline due to underlying genetic disorders, seizures, and complex comorbidity. A follow-up study was performed in a cohort of adults with mostly drug-resistant epilepsy and mild-severe ID. Adaptive and cognitive functioning were re-assessed with the Vineland Adaptive Behavior Scales (VABS-II), Wechsler Adult Intelligence Scale short form (WAIS-SF-IV), and Picture Peabody Vocabulary Test (PPVT-III). Medical history, current antiseizure medication, and dementia diagnostics were retrieved from the medical files. Changes in adaptive and cognitive functioning were analyzed using mixed effects models and reliable change indexes. Chi square tests were used to explore associations with comorbidity. A total of 72 adults were re-assessed after a mean of 5.4 (range 4.7-6.5) years, with a mean age of 52 (range 24-76) years. Raw scores of adaptive functioning declined significantly (daily skills: βtime=-1.45, df=71, p<0.001, social skills: βtime=-1.91, df=71, p<0.001). Re-assessment of cognitive functioning was successful in 55 individuals (77.8%) and remained stable in this group (WAIS: βtime=0.75, df=29, p=0.51, PPVT: βtime=-0.02, df=29, p=0.64). A clinical suspicion of dementia was documented for 12 individuals (16.7%). Sensory impairments were associated with adaptive decline (visual: X2=8.71, p=0.003) and suspected dementia (hearing: X2=11.63, p<0.001). Results show significant early adaptive decline and call for more awareness and frequent re-assessments.

Validity of bioelectrical impedance analysis to estimate body composition in patients with severe motor and intellectual disabilities.

Copy number variants are an important source of normal and pathogenic genome variations. Constitutional deletions involving the distal part of the short arm of chromosome 12(12p13.33p13.32) are very rare. These deletions are associated with an emerging condition associated with variable phenotype, including a specific speech delay sound disorder, labeled childhood apraxia of speech, intellectual disability, and neurobehavioral problems. Trisomy of distal chromosome 15q has rarely been reported. It is generally believed that the terminal duplication of 15q26.2q26.3 is related to overgrowth phenotype, distinct facial features and intellectual disability. A 21-year-old woman (gravida 1, para 0) underwent amniocentesis at 26 weeks' gestation following the detection of a persistent left superior vena cava of the fetus on prenatal ultrasound. In this research, GTG-banding karyotype analysis, chromosomal microarray analysis (CMA), whole-exome sequencing (WES), and fluorescence in-situ hybridization (FISH) were performed. CMA detected a 4.36 Mb deletion on chromosome 12p13.33p13.32 and a 7.59 Mb duplication on chromosome 15q26.2q26.3 of the fetus. No abnormality was found in the parents' genetic examination. After genetic counselling, the parents decided to continue the pregnancy. We provide a detailed description of the prenatal diagnosis and genetic counselling of a rare de-novo 12p13.33p13.32 deletion and 15q26.2q26.3 duplication in a Chinese family. A combination of karyotype analysis, CMA, WES, FISH, prenatal ultrasound, and genetic counselling is helpful for the prenatal diagnosis of chromosomal deletions/duplications and pathogenic gene variants.

Construction and validation of a model for predicting disability in older adults with chronic lung disease.

A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as categorical diagnoses and symptoms, in children and adolescents with neurofibromatosis type 1 (NF1). As a secondary objective, we summarize studies examining the association between intellectual impairment and psychopathology in children and adolescents with NF1. A literature search was conducted in three databases (Medline, PsychINFO, EMBASE) from inception to the third week of November 2024 with no restrictions on year of publication or publication type. Search terms related to neurofibromatosis, psychiatric symptoms and disorders, intellectual disability, and learning disorders. A total of 112 studies were identified that met the review inclusion criteria. The majority of studies focused on children aged 6-12 years (n = 106; 95%) and adolescents (n = 87; 78%) with fewer studies in the preschool age (n = 43; 38%) and the least number of studies in the infant age group (n = 10; 9%). The majority of these involved clinical cohorts (n = 94; 84%). The intellectual domain was assessed in 77 studies (69%), the academic domain in 29 studies (26%), and the psychiatric domain in 88 studies (79%). Thirteen studies (12%) assessed all three domains (intellectual, academic, and psychiatric). Many studies assessed for ADHD diagnosis (n = 24; 21%) or symptomatology (n = 43; 38%) or for autism diagnosis (n = 12; 11%) or symptomatology (n = 26; 23%). Few studies assessed for anxiety diagnosis (n = 4; 4%) or symptomatology (n = 7; 6%) or for depression diagnosis (n = 4; 4%) or symptomatology (n = 7; 6%). Twelve studies (11%) examined the association between intellectual impairment and psychopathology. There is a need for studies that use standardized assessments to reliably distinguish between traits and diagnoses and to capture whether children meet criteria for more than one disorder (co-morbidity). There is also a need for studies examining the association between intellectual impairment and psychopathology in children with NF1. A better understanding of the neurodevelopmental and psychiatric manifestations that children with NF1 are at greatest risk for can help shape clinical care guidelines, improve parental psychoeducation, and optimize the use of effective interventions.

Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by deletions in chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Individuals present with intellectual disability, autism-spectrum traits, seizures, gastrointestinal and motor issues, and sleep disturbances, requiring lifelong multidisciplinary care. In Italy, PMS care is fragmented and unevenly distributed, with families often providing intensive home-based support at high personal, financial, and social costs. This national participatory Citizen-Science study, conducted with the Italian Phelan-McDermid Syndrome Association (AISPHEM), will engage informal caregivers of individuals with genetically confirmed PMS across Italy. A qualitative phase using semi-structured online interviews will explore caregiving experiences, unmet needs, barriers to care, coping strategies, and social isolation. Insights will guide the creation of the first Italian PMS registry, capturing longitudinal clinical, socio-demographic, and caregiver-related data. The project will generate novel evidence on caregiver needs, develop the first national PMS registry, and produce a service map to support equitable, coordinated PMS care and a stronger national caregiver network in Italy.

Disrupting PQBP1-eEF2 protein-protein interaction: From synaptic translation to immunity and cancer.

Factors influencing transition from paediatric to adult health care for young people with intellectual disability: A systematic scoping review

Neurogenic stuttering caused by supplementary motor area and premotor cortex dysfunction due to acute encephalopathy: A case report

Maternal and paternal antidepressant use before and during pregnancy and offspring risk of neurodevelopmental disorders: a systematic review and meta-analysis.

Clinical and genetic characterization of intellectual disability.

Pediatric cochlear implantation is the standard of care for infants and young children with congenital bilateral severe-to-profound sensorineural hearing loss who receive limited benefits from optimally fitted hearing aids. Despite significant advances in cochlear implant (CI) device technology and surgical safety, post-implant spoken language outcomes remain highly heterogeneous, ranging from robust speech recognition and age-appropriate language to minimal benefits in sound detection with limited speech perception and language delays. This narrative review integrates findings from the literature by organizing predictors of post-implant language development into intrinsic and extrinsic factors and highlighting clinically actionable strategies to optimize interventions. Two major intrinsic constraints are (a) neurodevelopmental comorbidities (including intellectual disability and autism spectrum disorder), which limit the cognitive resources required to transform auditory input into stable phonological and lexical representations, and (b) inner ear malformations and cochlear nerve deficiency, which restrict the neural substrate available for transmitting CI-mediated auditory input to the central auditory system. These intrinsic factors are closely linked to etiologies such as genetic disorders, congenital cytomegalovirus infection, and temporal bone malformations and can be identified early through developmental profiling, imaging, electrophysiology, and genetic testing to support individualized counseling and to help determine realistic expectations. In contrast, at least four extrinsic determinants are modifiable and should be targeted systematically: (A) early intervention with verified audibility and timely implantation when auditory development fails to progress, (B) early bilateral/binaural access via bilateral CIs or optimized bimodal fitting to improve speech access in noisy environments and reduce listening effort, (C) daily communication strategies that maximize consistent spoken-language input, and (D) family and socioeconomic support that shapes the child's language and literacy ecology. An individualized profile-based approach integrating these elements offers a structured pathway to narrow outcome variability and maximize spoken language trajectories after pediatric cochlear implantation.

Characterization of a novel inherited splice-site variant in MAPK8IP3 expands the genetic and phenotypic spectrum of neurodevelopmental disorders.

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder caused by mutations or deletions in NR2F1, leading to intellectual disability, developmental delay, visual impairments, epilepsy, hypotonia, and autistic traits. We generated six novel human induced pluripotent stem cell (hiPSC) lines from BBSOAS patients with variable clinical phenotypes. These lines provide a versatile and renewable resource by serving as a unique platform to model NR2F1-related developmental defects in vitro and elucidate the molecular and cellular mechanisms underlying BBSOAS. Their availability will facilitate mechanistic, comparative, and therapeutic studies, advancing our understanding of NR2F1 function in human neural development.