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Purpose: Neurodevelopmental disorders (ND) have been recognized as the most common and potentially most disabling outcome of congenital diaphragmatic hernia (CDH). Our aim was to evaluate the incidence of ND in patients with a history of CDH referred for ND assessment on the basis of clinically relevant symptoms rather than through a screening process. Methods: The study was a nationwide, population-based prospective nested case–control study within a cohort of newborn children who survived the newborn period in Sweden during the observational period from 1st January 1982 until 31st December 2015. Results: In the study period, 641 non-syndromic CDH survivors were identified, and 3080 control cases were selected. Significantly higher incidence of clinically relevant any ND (11.5% vs 5.6%,p < 0.001), ASD (3.9% vs 2.1%,p:0.011), and intellectual disorder (6.6% vs 0.7%,p < 0.001) were observed in CDH compared to controls. When compared with controls, those with CDH were found to have a 2.179 times higher risk to develop any ND (p < 0.001), 1.867 times higher risk for ASD (p = 0.008), and 10.63 times higher for intellectual disorder (p < 0.001). Conclusion: CDH survivors have a higher risk of clinically relevant ND than the general population, independent of the effect of screening. [ABSTRACT FROM AUTHOR]

Potassium voltage-gated channel subfamily a member 2 (Kv1.2, encoded by KCNA2) is highly expressed in the central and peripheral nervous systems. Based on the patch clamp studies, gain-of function (GOF), loss-of-function (LOF), and a mixed type (GOF/LOF) variants can cause different conditions/disorders. KCNA2-related neurological diseases include epilepsy, intellectual disability (ID), attention deficit/hyperactive disorder (ADHD), autism spectrum disorder (ASD), pain as well as autoimmune and movement disorders. Currently, the molecular mechanisms for the reported variants in causing diverse disorders are unknown. Consequently, this review brings up to date the related information regarding the structure and function of Kv1.2 channel, expression patterns, neuronal localizations, and tetramerization as well as important cell and animal models. In addition, it provides updates on human genetic variants, genotype–phenotype correlations especially highlighting the deep insight into clinical prognosis of KCNA2-related developmental and epileptic encephalopathy, mechanisms, and the potential treatment targets for all KCNA2-related neurological disorders. [ABSTRACT FROM AUTHOR]

Background: Recent studies have suggested an increasing prevalence of intellectual disability diagnoses in some countries. Our aim was to describe the trend in the prevalence of intellectual disability diagnoses in Sweden and explore whether associated sociodemographic and perinatal factors can explain changes in the prevalence. Methods: We used a register-based nationwide cohort of residents in Sweden born between 2001 and 2011. We calculated the prevalence of intellectual disability diagnoses by age 10 for each birth cohort and the prevalence ratios in relation to the baseline year 2011, overall and by severity of intellectual disability, and comorbidity of autism and attention-deficit/hyperactivity disorder. The prevalence ratios were stratified and adjusted for associated sociodemographic and perinatal factors. Results: Among 1,096,800 individuals, 8,577 were diagnosed with intellectual disability by age 10. Among these, 3,949 (46%) and 2,768 (32%) were also diagnosed with autism and attention-deficit/hyperactivity disorder, respectively, and 4% were diagnosed with profound, 8% severe, 20% moderate, 52% mild, and 16% other/unspecific intellectual disability. The recorded age-10 prevalence of intellectual disability diagnoses increased from 0.64% (95% confidence interval 0.59–0.69%) in 2011 to 1.00% (0.94–1.06%) in 2021, corresponding to an annual prevalence ratio of 1.04 (1.04–1.05). The increase was, however, restricted to mild, moderate, and other/unspecific intellectual disability diagnoses, while the trends for profound and severe intellectual disability diagnoses were stable. The increasing trend was perhaps less pronounced among females and children with diagnosed attention-deficit/hyperactivity disorder, but independent of the co-occurrence of autism. The prevalence ratios did not change with stratification or adjustment for other associated demographic and perinatal factors. Conclusion: The recorded prevalence of diagnosed mild and moderate intellectual disability among 10-year-olds in Sweden has increased over the recent decade. This increase could not be explained by changes in associated sociodemographic or perinatal factors, including birth weight, gestational age, and parental age, migration status, and education at the child's birth. The increase instead may be due to changes in diagnostic practices in Sweden over time. [ABSTRACT FROM AUTHOR]

Physical health habits including physical activity and nutrition are essential for numerous health benefits. However, beginning in childhood, individuals with intellectual disability engage in lower levels of physical activity and healthy nutrition habits compared to individuals without intellectual disability, a trend that carries on into adulthood. Researchers continue to examine the effectiveness of interventions to increase engagement in physical health habits and improve health outcomes for individuals with intellectual disability, with an increased focus on technology-based interventions. This scoping review aimed to describe how technology was being utilized within interventions to improve health-related outcomes for adults with intellectual disability. We described the technology being used, who used the technology, and the feasibility of the interventions. Forty-one studies met criteria, with a total of 698 adult participants with an intellectual disability. While no studies on nutrition were located, technology was used in various physical activity interventions, with the most common being preferred stimulus access, exergaming, and video-based instruction. Most studies took place at day or rehabilitation centers, were implemented by research teams, and either did not discuss cost or were vague in their description related to cost. Implications, limitations, and future research directions are discussed. [ABSTRACT FROM AUTHOR]

Background and Aim: Timely diagnosis of dysphagia is important for people with an intellectual disability. Periodic screening of each individual by speech-language therapists is barely feasible with respect to limited resources. Therefore, preselection of individuals with an increased dysphagia risk through screening by caregivers is crucial. Objective: This study aimed to develop the novel Screening instrument for Dysphagia for people with an Intellectual Disability (SD-ID). Methods: The SD-ID was developed, validated and optimised in two rounds. Version 3, consisting of nine risk factors and 20 items concerning eating/drinking behaviour, was thoroughly studied for feasibility, concurrent validity and reliability, and then optimised. Outcomes and Results: The SD-ID (version 3) was filled out in an average of four minutes (feasibility). A strong positive association was found between scores on SD-ID and Dysphagia Disorder Survey (concurrent validity). Test-retest and interrater reliability were very good. Two additional risk factors were added and two items removed to yield the final version 4. The most optimal cut-off score appeared to be either 4 or 5. Conclusions and Implications: The SD-ID is a reliable instrument to screen for an increased risk of dysphagia in people with an intellectual disability. Ideally it is part of a cyclic work process: Screening with SD-ID (step 1), diagnostic work-up if necessary (step 2), recommendations (step 3), and evaluation (step 4). [ABSTRACT FROM AUTHOR]

Background: Phelan-McDermid syndrome (PMS) is caused by monoallelic loss or inactivation at the SHANK3 gene, located in human chr 22q13.33, and is often associated with Autism Spectrum Disorder (ASD). Objectives: To assess the clinical and developmental phenotype in a novel sample of PMS patients, including for the first time auxometric trajectories and serotonin blood levels. Methods: 70 Italian PMS patients were clinically characterized by parental report, direct medical observation, and a thorough medical and psychodiagnostic protocol. Serotonin levels were measured in platelet-rich plasma by HPLC. Results: Our sample includes 59 (84.3%) cases with chr. 22q13 terminal deletion, 5 (7.1%) disruptive SHANK3 mutations, and 6 (8.6%) ring chromosome 22. Intellectual disability was present in 69 (98.6%) cases, motor coordination disorder in 65 (92.9%), ASD in 20 (28.6%), and lifetime bipolar disorder in 12 (17.1%). Prenatal and postnatal complications were frequent (22.9%-48.6%). Expressive and receptive language were absent in 49 (70.0%) and 19 (27.1%) cases, respectively. Decreased pain sensitivity was reported in 56 (80.0%), hyperactivity in 49 (80.3%), abnormal sleep in 45 (64.3%), congenital dysmorphisms in 35 (58.3%), chronic stool abnormalities and especially constipation in 29 (41.4%). Parents reported noticing behavioral abnormalities during early childhood immediately after an infective episode in 34 (48.6%) patients. Brain MRI anomalies were observed in 53 (79.1%), EEG abnormalities in 16 (23.5%), kidney and upper urinary tract malformations in 18 (28.1%). Two novel phenotypes emerged: (a) a subgroup of 12/44 (27.3%) PMS patients displays smaller head size at enrollment (mean age 11.8 yrs) compared to their first year of neonatal life, documenting a deceleration of head growth (p < 0.001); (b) serotonin blood levels are significantly lower in 21 PMS patients compared to their 21 unaffected siblings (P < 0.05), and to 432 idiopathic ASD cases (p < 0.001). Conclusions: We replicate and extend the description of many phenotypic characteristics present in PMS, and report two novel features: (1) growth trajectories are variable and head growth appears to slow down during childhood in some PMS patients; (2) serotonin blood levels are decreased in PMS, and not increased as frequently occurs in ASD. Further investigations of these novel features are under way. [ABSTRACT FROM AUTHOR]

Sex education geared towards people with intellectual disability often focuses sexual risks and reproduction. However, research shows that students at special schools often find this inadequate and irrelevant. This conceptual article examines this issue from a crip theoretical perspective, combined with the classical concept of stigma. Furthermore, the term killjoy is added to the analysis; a term located at the intersection between queer and feminist theories. Might those in the environment surrounding individuals with ID, i.e., staff and family members, function as "killjoys" in relation to sexuality and intellectual disability? Or might they develop into "thrilljoys", i.e., individuals who facilitate the embracement of stigma, with a focus on enjoyment rather than apparent problems in relation to sexuality and people with ID? The aim of this article is to highlight the significance of the social environment for these young people's needs and life conditions, and to challenge presumptions that have to date been taken för granted. The result shows that assuming the role of thrilljoy means listening in a flexible and relevant way to the wishes that people with ID themselves express. This might in turn also make it easier for people with ID to themselves adopt a crip theoretical perspective and to really embrace that which has up until now been defined as a stigma. Developing new ways of looking at non-normative intellectual functionality and sexuality could contribute to develop sex education geared towards this goal group in a sufficient way. [ABSTRACT FROM AUTHOR]

Objective: Advances in mobile technology are helping with health management practices, and smart toothbrushes provide proper dental care by collecting and analyzing users’ toothbrushing data. The purpose of this study is to assess the effect of a telemonitoring device on oral hygiene management in individuals with intellectual or developmental disabilities and its role in promoting oral health. Materials and methods: Participants were split into two groups: one initially using the telemonitoring device (telemonitoring device/manual toothbrush) and the other using it later (manual toothbrush/telemonitoring device), with a one-month washout period. The study compared plaque index, halitosis, changes in oral microbiota, and guardian questionnaire responses between the groups. Results: In period 1, the QHI index score significantly decreased from 1.93 to 0.83 in the group using the remote monitoring device, compared to an increase from 1.75 to 2.01 in the manual toothbrush group. Additionally, toothbrushing frequency, time, and cooperation increased by 0.82 ± 0.60, 0.82 ± 1.16, and 1.09 ± 0.94, respectively, with initial telemonitoring device use. However, these measures decreased by -1.45 ± 0.68, -1.09 ± 0.70, and − 1.00 ± 1.00 after switching to a manual toothbrush, and decreased by -0.64 ± 0.67, -0.27 ± 1.19, and 0.09 ± 0.94 overall, respectively. However, there were no significant differences in oral microbiota between the groups at these different time points. Conclusions: The study shows that telemonitoring devices effectively reduce plaque index and improve toothbrushing frequency, time, and cooperation. However, these benefits decrease after switching to a manual toothbrush. Follow-up is needed to assess satisfaction and compliance with telemonitoring device use. Clinical relevance: Using telemonitoring devices in the oral health management of individuals with intellectual and developmental disabilities can improve their oral health quality. [ABSTRACT FROM AUTHOR]

Background: TRAPP complexes are crucial components for intracellular transport and cellular organization. Their role in vesicle trafficking, particularly through their involvement in the secretory pathway, make them more important in neurodevelopmental mechanisms. This study aims to identify a novel genetic variant, associated with developmental delay and intellectual disability by analyzing a consanguineous Iranian family. Materials and methods: Here, we performed whole-exome sequencing on an Iranian family, originating from a small population. The patient presented with severe developmental delay, microcephaly, and behavioral abnormalities. Through our analysis, we discovered a new biallelic variant on a previously introduced gene: TRAPPC10 (NM_003274.5): c.3222 C > A; p.(Cys1074Ter) that is a potential cause for these specific clinical characteristics. Results: Previous functional analysis suggest that the mutation causes premature termination of protein translation, likely leading to nonsense-mediated decay because of biallelic loss of functional TRAPPC10 protein which leads to severe developmental delay, microcephaly, and behavioral abnormalities such as aggression and autistic traits. Conclusion: The aim of this research is to discover a novel variant in the TRAPPC10 gene that is responsible for a particular neurodevelopmental condition, dominantly characterized by developmental delay, intellectual disability, and microcephaly. These findings advance the comprehension of TRAPP-related diseases and emphasize the need for further exploration into the impact of TRAPPC10 on the development of the nervous system. [ABSTRACT FROM AUTHOR]

The goal of this special issue is to highlight recent work advancing supportive interventions that facilitate meaningful access for persons with autism, intellectual and developmental disabilities to inclusive community-based settings. The special issue includes a literature synthesis focused on informal education settings, interventions for critical skills such as pool side safety, and articles focused on adults with disabilities. Notable strengths include long-term follow-up of intervention effects, investigation of novel settings such as airports and informal educational settings, and inclusion of adults with disabilities. [ABSTRACT FROM AUTHOR]

Students with intellectual disability (ID) have been participating in statewide general and alternate reading assessments during the past two decades. However, these students' reading performance on statewide assessments over time has not been adequately examined. The purpose of this study was to examine the relationship between students with ID's 5th grade reading achievement and their 8th grade reading achievement as measured by statewide standardized assessments. We used a longitudinal dataset from an urban school district in a Midwestern state in the United States. Results showed that students with ID's 5th grade reading achievement did not significantly predict their 8th grade reading achievement in the general assessment. On the other hand, students with ID's 5th grade reading achievement significantly predicted their 8th grade reading achievement in the alternate assessment. Implications of these results were discussed and recommendations for future research were provided. [ABSTRACT FROM AUTHOR]

Background: SYNGAP1 variants are associated with varying degrees of intellectual disability (ID), developmental delay (DD), epilepsy, autism, and behavioural difficulties. These features may also be observed in other monogenic conditions. There is a need to systematically compare the characteristics of SYNGAP1 with other monogenic causes of ID and DD to identify features unique to the SYNAGP1 phenotype. We aimed to contrast the neurodevelopmental and behavioural phenotype of children with SYNGAP1-related ID (SYNGAP1-ID) to children with other monogenic conditions and a matched degree of ID. Methods: Participants were identified from the IMAGINE-ID study, a UK-based, national cohort study of neuropsychiatric risk in children with ID of known genetic origin. Thirteen children with SYNGAP1 variants (age 4–16 years; 85% female) were matched (2:1) with 26 controls with other monogenic causes of ID for chronological and mental age, sex, socio-economic deprivation, adaptive behaviour, and physical health difficulties. Caregivers completed the Development and Wellbeing Assessment (DAWBA) and physical health questionnaires. Results: Our results demonstrate that seizures affected children with SYNGAP1-ID (84.6%) more frequently than the ID-comparison group (7.6%; p = < 0.001). Fine-motor development was disproportionally impaired in SYNGAP1-ID, with 92.3% of children experiencing difficulties compared to 50% of ID-comparisons(p = 0.03). Gross motor and social development did not differ between the two groups. Children with SYNGAP1-ID were more likely to be non-verbal (61.5%) than ID-comparisons (23.1%; p = 0.01). Those children able to speak, spoke their first words at the same age as the ID-comparison group (mean = 3.25 years), yet achieved lower language competency (p = 0.04). Children with SYNGAP1-ID compared to the ID-comparison group were not more likely to meet criteria for autism (SYNGAP1-ID = 46.2%; ID-comparison = 30.7%; p =.35), attention-deficit hyperactivity disorder (15.4%;15.4%; p = 1), generalised anxiety (7.7%;15.4%; p =.49) or oppositional defiant disorder (7.7%;0%; p =.15). Conclusion: For the first time, we demonstrate that SYNGAP1-ID is associated with fine motor and language difficulties beyond those experienced by children with other genetic causes of DD and ID. Targeted occupational and speech and language therapies should be incorporated early into SYNGAP1-ID management. [ABSTRACT FROM AUTHOR]

Background: Global developmental delay with speech and behavioral abnormalities (OMIM: 619243) is an autosomal dominant disease caused by variants in TNRC6B gene. Method: We reviewed and summarized clinical manifestations and genotypes in patients previously reported with TNRC6B gene variants. We used several prediction tools to predict pathogenicity and performed minigene assays to verify the function of the synonymous variant affecting RNA splicing. Result: The patient presented with convulsive seizures and developmental delay. WES combined with functional studies diagnosed a child with a synonymous variant in TNRC6B gene. Through minigene assay and Sanger sequencing, we demonstrated that c.3141G > A variant induced exon 7 skipping and the synonymous variant was pathogenic. Conclusion: Synonymous variants do not change the amino acids encoded by the codon, so we usually consider synonymous variants to be benign and ignore their pathogenicity. Minigene assay is a valuable tool to identify the effect of variation on RNA splicing and identify synonymous variants' benign or pathogenic. We showed that the synonymous variant was pathogenic by minigene assay. WES combined with minigene assay establishes a robust basis for genetic counseling and diagnosing diseases. [ABSTRACT FROM AUTHOR]

Purpose: The present study investigated school absence among 1,076 5–15 year-old children with neurodevelopmental conditions (intellectual disability and/or autism) approximately one year following the start of COVID-19 in the UK. Methods: Parents completed an online survey indicating whether their child was absent from school during May 2021 and the reason for each absence. Multi-variable regression models investigated child, family and school variables associated with absenteeism and types of absenteeism. Qualitative data were collected on barriers and facilitators of school attendance. Results: During May 2021, 32% of children presented with persistent absence (missing ≥ 10% of school). School refusal and absence due to ill-health were the most frequent types of absence, accounting for 37% and 22% of days missed, respectively. COVID-19 related absence accounted for just 11% of days missed. Child anxiety was associated with overall absenteeism and with days missed because of school refusal. Parent pandemic anxiety and child conduct problems were not associated with school absenteeism. Hyperactivity was associated with lower levels of absenteeism and school refusal but higher levels of school exclusion. A positive parent-teacher relationship was associated with lower levels of absenteeism, school refusal and exclusion. Child unmet need in school was the most frequently reported barrier to attendance while COVID-19 was one of the least frequently reported barriers. Conclusion: COVID-19 had a limited impact on school attendance problems during this period. Findings highlighted the role of child mental health in different types of absence and the likely protective role of a positive parent-teacher relationship. [ABSTRACT FROM AUTHOR]

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Intellectual disability (ID) is a condition characterized by cognitive impairment and difficulties in adaptive functioning. In our research, we identified two de novo mutations (c.955C>T and c.732C>A) at the KDM2A locus in individuals with varying degrees of ID. In addition, by using the Gene4Denovo database, we discovered five additional cases of de novo mutations in KDM2A. The mutations we identified significantly decreased the expression of the KDM2A protein. To investigate the role of KDM2A in neural development, we used both 2D neural stem cell models and 3D cerebral organoids. Our findings demonstrated that the reduced expression of KDM2A impairs the proliferation of neural progenitor cells (NPCs), increases apoptosis, induces premature neuronal differentiation, and affects synapse maturation. Through ChIP-Seq analysis, we found that KDM2A exhibited binding to the transcription start site regions of genes involved in neurogenesis. In addition, the knockdown of KDM2A hindered H3K36me2 binding to the downstream regulatory elements of genes. By integrating ChIP-Seq and RNA-Seq data, we made a significant discovery of the core genes' remarkable enrichment in the MAPK signaling pathway. Importantly, this enrichment was specifically linked to the p38 MAPK pathway. Furthermore, disease enrichment analysis linked the differentially-expressed genes identified from RNA-Seq of NPCs and cerebral organoids to neurodevelopmental disorders such as ID, autism spectrum disorder, and schizophrenia. Overall, our findings suggest that KDM2A plays a crucial role in regulating the H3K36me2 modification of downstream genes, thereby modulating the MAPK signaling pathway and potentially impacting early brain development. [ABSTRACT FROM AUTHOR]

Decision-making capability is essential in fulfilling the need for autonomy of people with intellectual disability. In this study we aimed to examine decision-making capability regarding important social situations in people with intellectual disability at different stages of decision-making process. We studied 80 vocational school students with mild intellectual disability and 80 students of a similar age from mass vocation schools. We assessed decision-making with Important Life Decisions Task (ILDT). Students with intellectual disability obtained significantly lower scores than controls for each of the stories in ILDT as in each stage and overall final score in the decision-making process. The magnitude of difference in scores between groups varied in different stages of decision-making process. The most notable difficulties in decision-making regarding important social situations in people with intellectual disability are related to the evaluation of alternatives stage. Pattern of differences obtained in our study may be related to the content of decision-making problems. [ABSTRACT FROM AUTHOR]

Purpose of Review: We performed a narrative review of the current knowledge in epidemiology, mechanisms, clinical presentation, and treatment of sleep disorders in adults with intellectual disability. Recent Findings: Adults with Intellectual disability face significant mental and physical health disparities, including in sleep medicine. Despite sleep disorders having been identified as adversely affecting the health and quality of life of both adults with intellectual disabilities and their caregivers, the evidence base for assessment, diagnosis and treatment in this population remains under developed when compared to that of the general population. This review summarises the existing literature on insomnia, sleep disordered breathing, and other common sleep disorders in adults with intellectual disability. Emphasising the existing gaps in our understanding of sleep disorders in adults with intellectual disabilities, we propose strategies to address and mitigate these gaps. Summary: Sleep disorders are common, yet frequently ignored in adults with intellectual disabilities. To address sleep health inequality gaps, future research should adopt tailored approaches, considering the heterogeneity within the intellectual disability population, including stratification by aetiology and health comorbidities. This is essential to improve the diagnostic accuracy and treatment of sleep disorders in adults with intellectual disability. [ABSTRACT FROM AUTHOR]

Background: There is a critical need for the development of dependable and valid anxiety assessment tools suitable for people with moderate to severe intellectual disabilities, particularly those who speak few or no words. Distinguishing anxiety from distress caused by physical discomfort (pain) or characteristics associated with autism, prevalent in this population, necessitates specialised assessment tools. This study (a) developed a parent-report anxiety questionnaire tailored for individuals with severe to moderate intellectual disabilities, potentially with a co-diagnosis of autism, and (b) evaluated the psychometric attributes of this novel measure. Methods: A comprehensive approach involving literature reviews, inspection of existing tools, and interviews with clinicians and parents guided the creation of the Clinical Anxiety Scale for People with Intellectual Disabilities. The tool was completed by parents or caregivers (N = 311) reporting on individuals aged 4 or older with intellectual disabilities. Results: Exploratory factor analysis indicated a four-factor structure encompassing anxiety, pain, low energy/withdrawal, and consolability. The anxiety factor explained the most variance in scores (26.3%). The anxiety, pain, low energy/withdrawal subscales demonstrated robust internal consistency (α = 0.81-0.92), and convergent, divergent, and discriminant validity. Robustness of these subscales was further evidenced by test-retest reliability (ICC = 0.79-0.88) and inter-rater reliability (ICC = 0.64-0.71). Subgroup analyses consistently demonstrated strong psychometric properties among individuals diagnosed with non-syndromic autism (N = 98), children (N = 135), adults (N = 175), and across diverse communication abilities within the sample. Moreover, individuals diagnosed with both autism and anxiety exhibited significantly higher scores on the anxiety subscale compared to those without an anxiety diagnosis, while showing no difference in autism characteristic scores. Conclusions: The findings indicate that the Clinical Anxiety Scale for People with Intellectual Disabilities is a promising measure for use across diverse diagnostic groups, varying communication abilities, and with people with moderate to severe intellectual disabilities. [ABSTRACT FROM AUTHOR]

Purpose: While research indicates that both the core features of autism and associated developmental skills influence adaptive behaviour outcomes, results to date suggest greater influence of the latter than the former, and little attention has been given to how the interaction of both together might impact functional disability. Seeking to expand understanding of associations between young children's core social autism features, developmental skills, and functional ability/disability, we specifically tested whether early developmental skills might have a moderating effect on the association between early social features and subsequent functional disability. Methods: Data from 162 preschool children were available for this study. These included time-1 measures of social autism features (ADOS-Social Affect score) and developmental skills (MSEL-Developmental Quotient; DQ), and a measure of functional ability/disability (VABS-Adaptive Behaviour Composite; ABC) available at follow-up 1-year later (time-2). Results: Time-1 ADOS-SA and MSEL-DQ scores were concurrently associated with one another, and both prospectively associated with time-2 VABS-ABC scores. Examination of partial correlations (i.e., controlling for MSEL-DQ) demonstrated that the association of time-1 ADOS-SA and time-2 VABS-ABC was accounted for by shared variance with DQ. Formal moderation analysis returned a non-significant overall interaction term, but showed a lower-bound region of significance whereby the association of time-1 ADOS-SA with time-2 VABS-ABC was significant for children with baseline DQ ≤ 48.33. Conclusion: Our results add to a body of empirical evidence consistent with an understanding of the needs of and resources available to autistic people through a 'cognitive compensation' lens. [ABSTRACT FROM AUTHOR]

The aim of this study was to examine genetic variations underlying the early neurodevelopmental outcome of developmental disabilities (DDs). The study cohort consisted of 191 children with DDs. Diagnosis was assessed at baseline and at the index age (72–84 months). Exome sequencing was conducted and putative risk variants were identified. According to the diagnostic improvement, children were categorized into the improvement group (n = 19) and the non-improvement group (n = 172). Compared to the non-improvement group, the improvement group had lower number of risk variants in known DD genes and haploinsufficient genes, and lower number of overall putative risk variants. Our results may serve as a preliminary basis for developing a model that informs clinical outcome by sequencing analysis. [ABSTRACT FROM AUTHOR]

We explored associations among the core behavioural features and developmental/cognitive abilities of 155 autistic children, assessed between ages 13–67 months and again around 1-year later to understand predictive directionality. Bidirectional, cross-domain association was apparent, albeit with stronger direction of effect from earlier cognition to later autism features (than vice versa). Exploratory sub-domain analysis showed that early non-verbal developmental/cognitive abilities (only) predicted subsequent social- and restricted/repetitive autism features, whereas early social features (only) predicted both subsequent verbal and non-verbal abilities. Although observational study design precludes causal inference, these data support contemporary notions of the developmental interconnectedness of core autism presentation and associated abilities—that behavioural autism features may influence cognitive development, but are likely also influenced by an individuals' cognitive capacity. [ABSTRACT FROM AUTHOR]

Objectives: We perform special-need dental treatment at outpatient department (OPD), under general anesthesia (GA) when necessary, and provide domiciliary dental care. We aim to evaluate the profile and the characteristics of special needs patients (SNPs). Materials and methods: We consecutively enrolled 3117 SNPs from January 1, 2019 to December 31, 2022. Eighty patients with rare or genetic diseases were excluded. Demographic data were retrospectively collected. Results: There were totally 3037 SNPs (mean age: 48.2 years; range, 1-100; male-to-female ratio, 1.5); 89.1% (n = 2705) SNPs received dental care at the OPD (OPD-SNPs), 7.9% (n = 239) received dental treatment under GA, and 3.0% (n = 93) received domiciliary dental care. Among those SNPs who received dental treatment under GA (n = 239), 91.2% (n = 218) were mental/intellectual disabled, and most underwent cavity filling (69.5%) and dental extractions (56.5%). OPD-SNPs with mental/intellectual disabilities (n = 1340) received significantly more items of dental treatment than those without (n = 1365). SNPs with more severe disabilities received more fluoride application and ultrasonic scaling (both p < 0.001, trend tests). Interestingly, among OPD-SNPs with mental/intellectual disabilities (n = 1340), more severe patients received more fluoride application (p < 0.001) and ultrasonic scaling (p < 0.001) but fewer root canal treatment (p = 0.007, trend test). Conclusions: GA benefited SNPs with more dental procedures, including invasive items. SNPs with mental/intellectual disabilities can tolerate more measures and SNPs with more severe mental/intellectual disabilities received more preventive measures but less invasive measures. Similarly, more severe SNPs with other disabilities received more preventive measures but not invasive measures. Clinical relevance: Our findings may provide useful information for special needs dentists and for doctor-patient communication. [ABSTRACT FROM AUTHOR]

Objectives: To determine the diagnostic yield of next generation sequencing (NGS) in patients with moderate/severe/profound intellectual disability (ID) unexplained by conventional tests and to assess the impact of definitive diagnosis on the clinical management and genetic counselling of these families. Methods: This was a ambi-directional study conducted at Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi. The study comprised 227 patients (prospective cohort − 126, retrospective cohort − 101) in whom NGS based tests were performed. Results: The mean age of study cohort was 4.5 ± 4.4 y (2.5 mo to 37.3 y). The male: female ratio was 1.6:1. The overall diagnostic yield of NGS was 53.3% (121/227) with causative variants identified in 84 known ID genes. Autosomal recessive intellectual disability (ARID) (23.3%, 53/227) was the most common followed by autosomal dominant intellectual disability (ADID) (20.7%, 47/227) and X-linked intellectual disability (XLID) (9.2%, 21/227). The diagnostic yield was notably higher for ID plus associated condition group (55.6% vs. 20%) (p = 0.0075, Fisher's exact test) compared to isolated ID group. The impact of diagnosis on active or long-term management was observed in 17/121 (14%) and on reproductive outcomes in 26/121 (21.4%) families. Conclusions: There is paucity of data on molecular genetic spectrum of ID from India. The current study identifies extensive genetic heterogeneity and the impact of NGS in patients with ID unexplained by standard genetic tests. The study identified ARID as the most common cause of ID with additional implications for reproductive outcomes. It reiterates the importance of phenotype in genetic testing. [ABSTRACT FROM AUTHOR]

Background: Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We seek to determine the probability and the age of acquisition of specific developmental milestones and daily living skills in individuals with AS across the different molecular subtypes, viz. class I deletion, class II deletion, uniparental disomy, imprinting defect, and UBE3A variants. Methods: Caregivers participating in a longitudinal multicenter Angelman Syndrome Natural History Study completed a questionnaire regarding the age at which their children achieved specific developmental milestones and daily living skills. The Cox Proportional Hazard model was applied to analyze differences in the probability of achievement of skills at various ages among five molecular subtypes of AS. Results: Almost all individuals, regardless of molecular subtype, were able to walk with support by five years of age. By age 15, those with a deletion had at least a 50% probability of acquiring 17 out of 30 skills compared to 25 out of 30 skills among those without a deletion. Overall, fine and gross motor skills such as holding and reaching for small objects, sitting, and walking with support were achieved within a fairly narrow range of ages, while toileting, feeding, and hygiene skills tend to have greater variability in the ages at which these skills were achieved. Those without a deletion had a higher probability (25–92%) of achieving daily living skills such as independently toileting and dressing compared to those with a deletion (0–13%). Across all molecular subtypes, there was a low probability of achieving independence in bathing and brushing teeth. Conclusion: Individuals with AS without a deletion are more likely to achieve developmental milestones and daily living skills at an earlier age than those with a deletion. Many individuals with AS are unable to achieve daily living skills necessary for independent self-care. [ABSTRACT FROM AUTHOR]

We aimed to identify unique constellations of sensory phenotypes for genetic etiologies associated with diagnoses of autism spectrum disorder (ASD) and intellectual disability (ID). Caregivers reported on sensory behaviors via the Sensory Profile for 290 participants (younger than 25 years of age) with ASD and/or ID diagnoses, of which ~ 70% have a known pathogenic genetic etiology. Caregivers endorsed poor registration (i.e., high sensory threshold, passive behaviors) for all genetic subgroups relative to an "idiopathic" comparison group with an ASD diagnosis and without a known genetic etiology. Genetic profiles indicated prominent sensory seeking in ADNP, CHD8, and DYRK1A, prominent sensory sensitivities in SCN2A, and fewer sensation avoidance behaviors in GRIN2B (relative to the idiopathic ASD comparison group). [ABSTRACT FROM AUTHOR]

The aim of this article was to identify educational interventions on sexuality for parents of children and adolescents with intellectual disabilities. This is an integrative literature review. In May, 2023, searches were carried out in 12 databases using the keywords: intellectual disability, sexuality, sexual communication, intervention, program, and parents and Boolean operators AND and OR. The thematic analysis of the nine articles found resulted in the theme: Sex education programs and their interventions, and three sub-themes: (a) conceptualization and design of the programs; (b) from taboo to confidence: increasing self-perception of competence to approach sex education; and (c) speaking the same language: how sex education can contribute to improving communication between parents and children with intellectual disabilities. The results showed that the interventions were effective in promoting positive changes in self-efficacy, contributed to increasing knowledge about sexuality, improved the quality and frequency of communication about sexuality in the family context, and addressed parents' beliefs and attitudes, considering their cultural and personal context with a view to promoting positive changes in these areas. The development of sex education strategies prepares parents and families for handling and safely guiding children and adolescents with intellectual disabilities. The interventions showed a positive impact on parents and their children. Future investigations combining quantitative and qualitative approaches to the evaluation of these sex education programs are necessary, in order to provide a broader and deeper view of the results achieved. [ABSTRACT FROM AUTHOR]

Background: The scientific literature establishes that people with mental impairments show high levels of sedentary behaviour. Aim: This research has the objectives of (a) Studying the effect of the intervention programme on the effect of basic physical qualities, balance and coordination and (b) Comparing the results obtained before and after carrying out the intervention programme according to the sex of the participants through a structural equation model. Methods: A quasi-experimental study was carried out with a pre-test-post-test group design, with a sample of 47 participants (46.8% male and 53.2% female). Questionnaires adapted to the characteristics of the sample were carried out to collect the data. Results: It is observed that the intervention programme has helped to improve the effect of basic physical qualities on balance and coordination. Conclusion: It is concluded that Kin Ball is a sport that improves the quality of life of people with special educational needs and that gender is a key factor influencing the development of basic physical qualities. [ABSTRACT FROM AUTHOR]

Intellectual disability is a heterogeneous disorder, diagnosed using intelligence quotient (IQ) score criteria. Currently, no specific clinical test is available to diagnose the disease and its subgroups due to inadequate understanding of the pathophysiology. Therefore, current study was designed to explore the molecular mechanisms involved in disease perturbation, and to identify potential biomarkers for disease diagnosis and prognosis. A total of 250 participants were enrolled in this study, including 200 intellectually disabled (ID) subjects from the subgroups (mild, moderate, and severe) with age and gender matched healthy controls (n = 50). Initially, IQ testing score and biochemical profile of each subject was generated, followed by label-free quantitative proteomics of subgroups of IQ and healthy control group through nano-LC/MS- mass spectrometry. A total of 310 proteins were identified, among them198 proteins were common among all groups. Statistical analysis (ANOVA) of the subgroups of ID showed 142 differentially expressed proteins, in comparison to healthy control group. From these, 120 proteins were found to be common among all subgroups. The remaining 22 proteins were categorized as exclusive proteins found only in disease subgroups. Furthermore, the hierarchical cluster analysis (HCL) of common significant proteins was also performed, followed by PANTHER protein classification and GO functional enrichment analysis. Results provides that the datasets of differentially expressed proteins, belong to the categories of immune / defense proteins, transfer carrier proteins, apolipoproteins, complement proteins, protease inhibitors, hemoglobin proteins etc., they are known to involvein immune system, and complement and coagulation pathway cascade and cholesterol metabolism pathway. Exclusively expressed 22 proteins were found to be disease stage specific and strong PPI network specifically those that have significant role in platelets activation and degranulation, such as Filamin A (FLNA). Furthermore, to validate the mass spectrometric findings, four highly significant proteins (APOA4, SAP, FLNA, and SERPING) were quantified by ELISA in all the study subjects. AUROC analysis showed a significant association of APOA4 (0.830), FLNA (0.958), SAP (0.754) and SERPING (0.600) with the disease. Apolipoprotein A4 (APOA4) has a significant role in cholesterol transport, and in modulation of glucose and lipid metabolism in the CNS. Similarly, FLNA has a crucial role in the nervous system, especially in the functioning of synaptic network. Therefore, both APOA4, and FLNA proteins represent good potential for candidate biomarkers for the diagnosis and prognosis of the intellectual disability. Overall, serum proteome of ID patients provides valuable information of proteins/pathways that are altered during ID progression. [ABSTRACT FROM AUTHOR]

'Social inclusion' is the leading ideal in services and care for people with intellectual disabilities in most countries in the Global North. 'Social inclusion' can refer simply to full equal rights, but more often it is taken to mean something like 'community participation'. This narrow version of social inclusion has become so ingrained that it virtually goes unchallenged. The presumption appears to be that there is a clear moral consensus that this narrow understanding of social inclusion is good. However, that moral consensus is not clear in the case of people with profound intellectual and/or multiple disabilities (PIMD), who are not able to express their needs and preferences verbally. Moreover, social inclusion has proven to be difficult to conceptualize and implement for people with PIMD. Therefore, it becomes imperative to ask about the ethical rationale of the narrow understanding of social inclusion. For what reasons do we think social inclusion is good? And do those reasons also apply for people with PIMD? This article addresses these questions by providing an ethical analysis of the ideal of social inclusion for people with PIMD. It discusses four ethical arguments for social inclusion and probes their relevance for people with PIMD. The article argues that none of these arguments fully convince of the value of the narrow understanding of social inclusion for people with PIMD. It ends with advocating for an ethical space for imagining a good life for people with PIMD otherwise. [ABSTRACT FROM AUTHOR]

The purpose of the research was to examine the effectiveness of multimedia tools in special education curriculum. A focus group of 21 children with intellectual disabilities aged 9–10 years was invited to participate in a randomized study. 21 students were selected for the control group, in which the training was carried out without changes. The experiment lasted six months. Prior to the integration of multimedia technologies into the pedagogical process, the learners took the Full-Scale Intelligence Quotient (FSIQ) test. In addition, the students were also tested in the middle and at the end of the study to assess the dynamics. The applications are multifunctional systems, which included cards for communication, various developmental tasks, an organizer and a messenger. After the first month of the experiment, the children's Verbal Comprehension Index (VCI) and Working Memory Index (WMI) indicators have increased by 10% and the Perceptual Reasoning Index (PRI) has improved by 5%. The results of the second month showed an increase in all the three areas by another 5%. Thus, it follows that the VCI and WMI test components have grown by 15% in total, and the PRI score has increased by 10% since the beginning of the experiment. Based on the data obtained in the experiment, it can be concluded that the multimedia resources have been successfully integrated into the education system. The findings can be used as a supplement to basic training of children with intellectual disabilities. [ABSTRACT FROM AUTHOR]

CLCN4-related disorder is a rare X-linked neurodevelopmental condition with a pathogenic mechanism yet to be elucidated. CLCN4 encodes the vesicular 2Cl−/H+ exchanger ClC-4, and CLCN4 pathogenic variants frequently result in altered ClC-4 transport activity. The precise cellular and molecular function of ClC-4 remains unknown; however, together with ClC-3, ClC-4 is thought to have a role in the ion homeostasis of endosomes and intracellular trafficking. We reviewed our research database for patients with CLCN4 variants and epilepsy, and performed thorough phenotyping. We examined the functional properties of the variants in mammalian cells using patch-clamp electrophysiology, protein biochemistry, and confocal fluorescence microscopy. Three male patients with developmental and epileptic encephalopathy were identified, with differing phenotypes. Patients #1 and #2 had normal growth parameters and normal-appearing brains on MRI, while patient #3 had microcephaly, microsomia, complete agenesis of the corpus callosum and cerebellar and brainstem hypoplasia. The p.(Gly342Arg) variant of patient #1 significantly impaired ClC-4's heterodimerization capability with ClC-3 and suppressed anion currents. The p.(Ile549Leu) variant of patient #2 and p.(Asp89Asn) variant of patient #3 both shift the voltage dependency of transport activation by 20 mV to more hyperpolarizing potentials, relative to the wild-type, with p.(Asp89Asn) favouring higher transport activity. We concluded that p.(Gly342Arg) carried by patient #1 and the p.(Ile549Leu) expressed by patient #2 impair ClC-4 transport function, while the p.(Asp89Asn) variant results in a gain-of-transport function; all three variants result in epilepsy and global developmental impairment, but with differences in epilepsy presentation, growth parameters, and presence or absence of brain malformations. [ABSTRACT FROM AUTHOR]

Background: Congenital cytomegalovirus (cCMV) is the most common congenital viral infection in the United States. Symptomatic infections can cause severe hearing loss and neurological disability, although ~ 90% of cCMV infections are asymptomatic at birth. Despite its prevalence, the long-term neurobehavioral risks of asymptomatic cCMV infections are not fully understood. The objective of this work was to evaluate for potential long-term neurobehavioral sequelae in infants with asymptomatic cCMV. Methods: Infants with cCMV were identified from a universal newborn cCMV screening study in a metropolitan area in the midwestern United States. Asymptomatic infants with cCMV were enrolled in a longitudinal neurodevelopmental study (N = 29). Age- and sex-matched healthy control infants (N = 193) were identified from the Baby Connectome Project (BCP), a longitudinal study of brain and behavioral development. The BCP sample supplemented an additional group of healthy control infants (N = 30), recruited from the same participant registry as the BCP specifically for comparison with infants with asymptomatic cCMV. Neurobehavioral assessments and parent questionnaires, including the Mullen Scales of Early Learning, the Repetitive Behavior Scales for Early Childhood (RBS-EC), and the Infant Toddler Social Emotional Assessment (ITSEA) were administered at 12 months of age. Neurobehavioral scores were compared between infants with asymptomatic cCMV and all identified healthy control infants. Results: Infants with asymptomatic cCMV performed equivalently compared to healthy control infants on the neurobehavioral measures tested at 12 months of age. Conclusions: These results indicate that at 12 months of age, infants with asymptomatic cCMV are not statistically different from controls in a number of neurobehavioral domains. Although follow-up is ongoing, these observations provide reassurance about neurobehavioral outcomes for infants with asymptomatic cCMV and inform the ongoing discussion around universal screening. Additional follow-up will be necessary to understand the longer-term outcomes of these children. [ABSTRACT FROM AUTHOR]

Growing evidence shows the potential benefits of robot-assisted therapy for children with Autism Spectrum Disorder (ASD). However, when developing new robotics technologies, it must be considered that this condition often causes increased anxiety in unfamiliar settings. Indeed, children with ASD have difficulties accepting changes like introducing multiple new technological devices in their routines, therefore, embedded solutions should be preferred. Also, in this context, robots should be small as children find the bigger ones scary. This leads to limited computing resources onboard as small batteries power them. This article presents a study on gesture recognition using video recorded only by the camera embedded in a NAO robot, while it was leading a clinical procedure. The video is 2D and low quality because of the limits of the NAO-embedded computing resources. The recognition is made more challenging by robot movements, which alter the vision by moving the camera and sometimes by obstructing it with the robot's arms for short periods. Despite these challenging real-world conditions, in our experiments, we have tuned and improved state-of-the-art algorithms to yield an accuracy higher than 90 % in the gesture classification, with the best accuracy being 94 % . This level of accuracy is suitable for evaluating the children's performance and providing information for the diagnosis and continuous assessment of the therapy. We have also considered the performance improvement of using a low-power GPU-AI accelerator embedded system, which could be included in future robots, to enable gesture analysis during the therapy, which could be adapted to the child's performance. [ABSTRACT FROM AUTHOR]

This study examined predictors of access to early support amongst families of 0-6-year-old children with suspected or diagnosed developmental disabilities in the United Kingdom. Using survey data from 673 families, multiple regression models were fitted for three outcomes: intervention access, access to early support sources, and unmet need for early support sources. Developmental disability diagnosis and caregiver educational level were associated with intervention access and early support access. Early support access was also associated with child physical health, adaptive skills, caregiver ethnicity, informal support, and statutory statement of special educational needs. Unmet need for early support was associated with economic deprivation, the number of household caregivers, and informal support. Multiple factors influence access to early support. Key implications include enhancing processes for formal identification of need, addressing socioeconomic disparities (e.g., reducing inequalities, increasing funding for services), and providing more accessible services (e.g., coordinating support across services, flexible service provision). [ABSTRACT FROM AUTHOR]

Intellectual disability in India is substantially under-reported, especially amongst females. This study quantifies the prevalence and gender bias in household reporting of intellectual disability by estimating the age-and-gender specific prevalence of the intellectually disabled by education, Socio-Demographic Index (SDI) score, place of residence, (rural/urban) and income of household head. We estimated prevalence (per 100,000) at 179 (95% CI: 173 to 185) for males and 120 (95% CI: 115 to 125) for females. Gender differences declined sharply with increased education, was higher for lower ages and low income and varied little by state development. Under-identification and under-reporting due to stigma are two plausible reasons for the gender differences in prevalence that increase with age. [ABSTRACT FROM AUTHOR]

A growing number of adults with intellectual and developmental disabilities (IDD) attend day programming. These programs are designed to give consumers the opportunity to explore the community, socialize with community members, and to engage in community activities. Unfortunately, activities offered may be selected by program staff without much input from the day program participants. Researchers examined the use of video-based paired stimulus preference assessments (VPA) to identify potentially preferred activities for three adults with IDD in a day program setting. Participant engagement levels during identified preferred activities were compared with staff-selected activities. Consistent with previous research, researchers were able to identify a hierarchy of preferred activities using the VPA. Researchers found preferred activities identified by the VPA maintained more engagement than staff-selected activities for all three participants. Our findings suggest VPA may be beneficial to incorporate into daily activity planning for adults with IDD in day programs. [ABSTRACT FROM AUTHOR]

Periodontal diseases, including gingivitis, are highly prevalent in individuals with intellectual disability (ID). In particular, gingivitis can be difficult to cure owing to the lack of patient cooperation. Here, we evaluated differences in the oral bacterial flora between individuals with ID (n = 16) and healthy controls (n = 14) to facilitate the development of strategies for the prevention of periodontal disease in people with ID. Our results showed no significant difference in the number of decayed, missing, and filled teeth between the two groups. However, there were significant differences in the median papillary-marginal-attached index, plaque index, and gingival index between groups (P < 0.0001). Additionally, the mean probing depth in the ID group was significantly higher than that in the control group (P < 0.0001). The diversity of oral flora in people with ID and concurrent gingivitis was significantly lower than that of healthy individuals without periodontal disease. The relative abundances of Tannerella spp. and Treponema spp. were significantly higher in the ID group than in the control group at the genus level (P = 0.0383 and 0.0432, respectively), whereas that of Porphyromonas spp. was significantly lower in the ID group (P < 0.0001). Overall, our findings provided important insights into differences in the oral microbiota between patients with ID and healthy controls. [ABSTRACT FROM AUTHOR]

Objectives: To estimate the occurrence and severity of deformational plagiocephaly among infants. Methods: A hospital-based, cross-sectional study was done in the pediatric ward of a tertiary care hospital between April 1, 2022 to October 31, 2022. Cranial Vault Asymmetry Index (CVAI) and Argenta Clinical Classification were applied to consecutive infants aged 1 month to 1 year till the calculated sample size was achieved. Results: 67 infants were recruited and the occurrence of deformational plagiocephaly in the sample was estimated to be 46.3%. Level 2 severity of deformational plagiocephaly was the commonest, while as per the Argenta classification, majority belonged to type I (39.2%). Male gender and developmental delay were the significant risk factors for plagiocephaly with an odds ratio (95% CI) of 3.73 (1.23, 11.26) and 19.25 (2.31, 160.3), respectively. Conclusion: A high occurrence of deformational plagiocephaly was found in infants studied. There is a need for more studies to further corroborate these findings and study its associated factors. [ABSTRACT FROM AUTHOR]

Background: Positive thinking is a mental attitude that focuses on positive thoughts and beliefs in order to improve one's outlook on life and is linked to a variety of positive psychological and health consequences, as well as decreased anxiety and depression. This study aimed to evaluate the effect of an intervention program on positive thinking, resourcefulness skills, and future anxiety among caregivers of children with intellectual disability. A quasi-experimental design was used on 70 caregivers whose children were attending the intellectual education school in Zagazig City. Data were collected through an interview questionnaire sheet composed of sociodemographic datasheet and child characteristics, the Positive Thinking Skills Scale (PTSS), the Resourcefulness Skills Scale (RSS), and the Future Anxiety Scale. Results: The mean score of future anxiety was lower at the post-intervention phase compared to pre-intervention among the participants' caregivers. Otherwise, the mean scores of positive thinking, social resourcefulness, personal resourcefulness, and total resourcefulness were higher at the post-intervention phase compared to pre-intervention among the participants' caregivers. Positive thinking improved among 60.76%, resourcefulness skills among 19.49%, and future anxiety decreased among 21.30% of the caregivers after the intervention. Conclusion: The intervention program was efficient in improving the caregivers' positive thinking and resourcefulness skills and decreasing their future anxiety. Recommendations: A continuous psychosocial training program is recommended to enhance the caregivers' positive thinking and improve other aspects of psychological adjustment. [ABSTRACT FROM AUTHOR]

Stereotypies are one of the diagnostic criteria for autism spectrum disorder (ASD) and are common to both ASD and intellectual disability (ID). Previous studies have been inconclusive, with some showing a positive correlation between stereotypies and cortisol, while others have shown a negative correlation. We hypothesised and investigated the presence of ASD as one of the variables involved in this discrepancy. We tested the following hypotheses on serum cortisol in a total of 84 hospitalised patients with severe ID and ASD with severe ID. Hypothesis (1) Higher levels of stereotypies are associated with higher levels of serum cortisol. Hypothesis (2) The presence of ASD will moderate the association between stereotypies and high serum cortisol levels. The results of the analysis supported hypotheses (1) and (2). We also found that in the population with ID, serum cortisol levels were significantly lower in the ASD group compared to the non-ASD group. The present findings that the association between stereotypies and serum cortisol levels in people with severe ID is moderated by the presence of ASD suggest that the stress response system may function differently in people with ID and ASD than in the general population. [ABSTRACT FROM AUTHOR]

Background: Global developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may include seizures, autism spectrum disorder and multiple congenital abnormalities. Next-generation sequencing (NGS) techniques have improved the identification of pathogenic variants and genes related to developmental delay. This study aimed to evaluate the yield of whole exome sequencing (WES) and neurodevelopmental disorder gene panel sequencing in a pediatric cohort from Ukraine. Additionally, the study computationally predicted the effect of variants of uncertain significance (VUS) based on recently published genetic data from the country's healthy population. Methods: The study retrospectively analyzed WES or gene panel sequencing findings of 417 children with global developmental delay, intellectual disability, and/or other symptoms. Variants of uncertain significance were annotated using CADD-Phred and SIFT prediction scores, and their frequency in the healthy population of Ukraine was estimated. Results: A definitive molecular diagnosis was established in 66 (15.8%) of the individuals. WES diagnosed 22 out of 37 cases (59.4%), while the neurodevelopmental gene panel identified 44 definitive diagnoses among the 380 tested patients (12.1%). Non-diagnostic findings (VUS and carrier) were reported in 350 (83.2%) individuals. The most frequently diagnosed conditions were developmental and epileptic encephalopathies associated with severe epilepsy and GDD/ID (associated genes ARX, CDKL5, STXBP1, KCNQ2, SCN2A, KCNT1, KCNA2). Additionally, we annotated 221 VUS classified as potentially damaging, AD or X-linked, potentially increasing the diagnostic yield by 30%, but 18 of these variants were present in the healthy population of Ukraine. Conclusions: This is the first comprehensive study on genetic causes of GDD/ID conducted in Ukraine. This study provides the first comprehensive investigation of the genetic causes of GDD/ID in Ukraine. It presents a substantial dataset of diagnosed genetic conditions associated with GDD/ID. The results support the utilization of NGS gene panels and WES as first-line diagnostic tools for GDD/ID cases, particularly in resource-limited settings. A comprehensive approach to resolving VUS, including computational effect prediction, population frequency analysis, and phenotype assessment, can aid in further reclassification of deleterious VUS and guide further testing in families. [ABSTRACT FROM AUTHOR]

Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to understand the genotype–phenotype relationship in affected individuals with CNNM2 variants by phenotypic, functional and structural analysis of new as well as previously reported variants. This results in the identification of seven variants that significantly affect CNNM2-mediated Mg2+ transport. Pathogenicity of these variants is further supported by structural modelling, which predicts CNNM2 structure to be affected by all of them. Strikingly, seizures and intellectual disability are absent in 4 out of 7 cases, indicating these phenotypes are caused either by specific CNNM2 variant only or by additional risk factors. Moreover, in line with sporadic observations from previous reports, CNNM2 variants might be associated with disturbances in parathyroid hormone and Ca2+ homeostasis. [ABSTRACT FROM AUTHOR]

Autism spectrum disorder (ASD) and intellectual disability (ID) are heterogenous and prevalent conditions which may occur in isolation or as a co-morbidity. Psychiatric co-morbidity is common with limited treatment options. Preliminary research into electroconvulsive therapy (ECT) for these conditions has been encouraging. Thus, further research in this patient population is warranted. We conducted a 10-year retrospective review of the electronic medical record and identified intellectually capable individuals with ASD (IC-ASD), and those with ASD+ID or ID who received at least three ECT treatments. 32 patients were identified of which 30 (94%) experienced positive clinical response, defined as a clinical global impression-improvement (CGI-I) score of 3 or less. The average retrospective CGI-I score across all groups was 1.97, and results of a t-test performed on CGI-I scores indicated improvement across all groups [t = − 16.54, df = 31, p < 0.001, 95% CI = (1.72, 2.22)]. No significant adverse events were identified based on clinical documentation. Our findings further support previous ECT research in this patient population. [ABSTRACT FROM AUTHOR]

In recent times, observers have noticed that people with intellectual disability (ID) experience increasing complexity in their older age. Many initiatives launched by healthcare organisations and government bodies are rigorously working to improve ID people's quality of life (QoL) and health status. The concept of QoL is rooted in a multidimensional framework comprising both universal (etic) and culture-bound (emic) components. It has objective and subjective features and is affected by individual and environmental factors. The professionals in QoL proposed eight dimensions to cover every aspect of ID people, including emotional well-being, interpersonal relationships, material well-being, personal development, physical well-being, self-determination, social inclusion, and rights. In the last decades in Catalonia, the professionals suggested the GENCAT scale predict these eight dimensions' values through a set of questionnaires containing 69 questions. The professionals use the beneficiary's response the heir to 69 questions based on four point frequency scale. The GENCAT scale tool converted these 69 questions' answers into eight values corresponding to the eight QoL dimensions. The GENCAT tool uses a set of rules and some correlatable tables to evaluate the eight dimensions of each beneficiary. In this work, we propose using machine and deep learning-based models instead of the GENCAT tool to estimate the eight dimensions values. Based on the private Newton One dataset, we train various machine learning (ML), such as Random Forest and Decision Trees, along with Deep Neural Networks (DNNs) models to predict the eight dimension values. The trained models predict the eight values by feeding with the 69 questions responses of the beneficiaries. We evaluate the performance of the various models using the Mean Absolute Error (MAE), Root Mean Square Error (RMSE), and R 2 scores. The proposed model based on DNNs achieved the best results among all tested models with MAE of 1.5991, RMSE of 3.0561, and R 2 of 0.9565. The study shows the promise of the machine and deep learning-based models, particularly DNNs, as a more effective and precise substitute for the GENCAT scale for calculating the eight dimensions of QoL in people with ID. The results open the door for better QoL evaluations and individualised interventions to improve this population's well-being as they age. [ABSTRACT FROM AUTHOR]

Establishing common ground in police investigative interviews is essential in preventing misperceptions and miscommunications, to enable a witness's best evidence to be collected. However eliciting a consistent account of an allegation from individuals with an Intellectual Disability (ID) is dependent on the skill of the interviewing police officer and the communicative competence of a witness with ID. Acknowledging the specialist nature of this process, the Youth Justice and Criminal Evidence Act in England and Wales allows trained intermediaries to facilitate communication between vulnerable individuals in legal settings such as forensic interviews. Intermediaries i.e., communication specialists, often recruit legally permitted low technology communication aids such as line drawings to facilitate interviews. Typically, common ground is established through shared attention and talk but this article uses multimodality Conversation Analysis to analyse the manner in which common ground in intermediary-mediated police interviews is established in other ways, i.e., firstly, through recruiting and using low technology communication aids in real interviews, and secondly through the embodied physical actions associated with manipulating those aids. Line drawings are examined here, enabling the answers given by witnesses with an ID to be semantically aligned with the questions being asked by the interviewing officers, by establishing common ground. Aids are shown to bypass documented difficulties with attention and staying on topic that individuals with ID typically experience, thus enabling them to verbally provide investigation-relevant evidence. [ABSTRACT FROM AUTHOR]

Introduction: Despite the recognition of the right to sexual identity and expression for all people, individuals with intellectual disabilities continue to face significant restrictions in these aspects of their lives. The prevailing myths and stereotypes surrounding their sexual-affective relationships place people with intellectual disabilities—especially women—in a position of great vulnerability. Methods: A systematic literature review was conducted, examining the content of the following databases: BASE, Dialnet, ERIC, La Referencia, Microsoft Academic, Redalyc, REDIB, Redined, Science Direct, Scopus, Web of Science, and World Wide Science. A total of 178 potentially relevant articles were identified, out of which 11 met the eligibility criteria. Finally, the themes covered in the articles were identified and analyzed. Results: The results obtained were classified into six categories: perceptions regarding sex and sexuality, experiences of abuse, views and experiences of relationships between couples, the LGTBIQ + community, knowledge about contraception and related experiences, and, finally, beliefs regarding gender scripts. Conclusions: This study offers valuable insights into the knowledge (or lack thereof) and beliefs regarding sex and sexuality, experiences of abuse among women with intellectual disabilities, the lack of independence and external intervention, and the influence of traditional gender scripts. Furthermore, this research also establishes a theoretical foundation for future support resources and initiatives, as well as social and public implications. [ABSTRACT FROM AUTHOR]

Introduction: The ableist rhetoric around sexuality in disability services and beyond can hinder subjective sexual expression and have a powerful impact on health, self-esteem, and everyday life through internalized ableism, structural marginalization, and interpersonal discrimination. The aim of this study was to explore the ableist rhetoric of sexuality and its impact on sexual scripting for people with intellectual disability. Methods: A thematic analysis was carried out on data generated through ethnographic fieldwork at five sheltered accommodations and semi-structured interviews with ten individuals with intellectual disability. Results: The results show that people in Sweden with intellectual disability are desexualized within a moral order that is maintained in post-institutional social care. Through this moral order, which is deeply embedded in an ableist rhetoric about sexual relationships, sexual scripting for disabled people is constrained both inside post-institutional social care initiatives, and in the broader community of "ableist environments." In response, disabled people employ various strategies of resistance. Conclusions: A rhetoric of positive sexuality should be a guiding principle for successfully supporting the development of sexual agency on each individual's own term. Policy Implications: We conclude by encouraging the development of initiatives that will empower and support people with intellectual disability to learn about their sexual rights and to find solutions that allow for development of sexual agency and subjectivity. [ABSTRACT FROM AUTHOR]

The pandemic has had very negative effects on the mental health of the population, especially in people with autism spectrum disorders (ASD) and intellectual disability (ID). We analyzed whether social communication, quality of life, and anxiety explain changes in the emotional impact of the pandemic in 60 adults with ASD and ID. Correlations between the study variables were analyzed and subsequently a multiple regression analysis was performed. The results show that communication writing, leisure and well-being index, explain 31% of the dependent variable. The well-being index (PWI) contributes significantly to improving the fit of the model, as indicated by β value. The remaining variables, communication writing and leisure socialization, do not contributed significantly to improving the fit of the model. Quality of life is the only variable that can explain changes in the emotional impact of the pandemic in the study population. This finding should guide future psychoeducational interventions and services for adults. [ABSTRACT FROM AUTHOR]

Background: Research on sensory processing, particularly its association with language disorders, has been increasing in recent years, aiming to understand the correlation between language and sensory processing. This study aimed to determine sensory profiles among children aged 36 and 120 months with language disorders (autism spectrum disorders (ASD), attention deficit hyperactivity disorders (ADHD), specific language impairment (SLI), and intellectual disability (ID)) and correlate their language ages with their sensory profile responses. Results: The study involved 120 children with language disorders (ASD, ADHD, SLI, and ID), and 30 typically developing children. All children were subjected to assessment by the Sensory Profile and the Preschool Language Scale Fourth Edition (PLS-4) Arabic edition. Based on their sensory profile, children with language disorders are distinguished from typically developing peers. The former has a higher prevalence of sensory modulation disorders as well as atypical emotional and behavioral responses to sensory inputs compared to typically developing children. Children with ASD have the highest atypical sensory responses, followed by those with SLI, ADHD, and ID. A negative correlation was found between some sensory profile scores and receptive language scores. Expressive language was related to oral processing in some subtypes of language disorders. Conclusions: The study indicates that detailed sensory processing assessment in children reveals different faces for different types of language disorders. [ABSTRACT FROM AUTHOR]