Intellectual Disability Research Articles

The Lived Experience of People With Intellectual Disability in Community Settings: A Comparison of Self‐Reports and Staff Reports

ABSTRACTBackgroundThere is a need for more qualitative research focusing on the lived experiences of people with an intellectual disability and a better understanding of how these experiences align with other voices in their lives, such as family and support staff.MethodsIn this qualitative study, we asked people with an intellectual disability (N = 87) and their support workers (N = 120) similar questions about factors contributing positively and negatively to the lives of those with an intellectual disability. We conducted a thematic analysis combining data across respondents, while also identifying areas of similarities and divergence between self‐reports and staff reports. The setting was community‐supported living schemes and group homes in the UK.FindingsQualitative themes, representing key positive and negative factors in the lives of people with an intellectual disability, were (1) Positive impact of social relationships on well‐being, (2) positive impact of participation and roles on self‐determination and well‐being and (3) negative impacts of difficulties affecting day‐to‐day life. These three themes are all linked to a broader sense of identity, purpose and self‐determination. These were broadly consistent across self‐reports and staff reports, although there were some points of divergence, particularly in Theme 3.ConclusionsThese findings reveal areas that are key to maximising the quality of life of people with an intellectual disability and suggest that self‐reports and proxy reports can sometimes offer unique perspectives. Our findings can be used to ensure that the priorities of people with an intellectual disability are considered in their care.

Ligand distances as key predictors of pathogenicity and function in NMDA receptors.

Genetic variants in the genes GRIN1, GRIN2A, GRIN2B, and GRIN2D, which encode subunits of the N-methyl-D-aspartate receptor (NMDAR), have been associated with severe and heterogeneous neurologic and neurodevelopmental disorders, including early onset epilepsy, developmental and epileptic encephalopathy, intellectual disability, and autism spectrum disorders. Missense variants in these genes can result in gain or loss of the NMDAR function, requiring opposite therapeutic treatments. Computational methods that predict pathogenicity and molecular functional effects of missense variants are therefore crucial for therapeutic applications. We assembled 223 missense variants from patients, 631 control variants from the general population, and 160 missense variants characterized by electrophysiological readouts that show whether they can enhance or reduce the function of the receptor. This includes new functional data from 33 variants reported here, for the first time. By mapping these variants onto the NMDAR protein structures, we found that pathogenic/benign variants and variants that increase/decrease the channel function were distributed unevenly on the protein structure, with spatial proximity to ligands bound to the agonist and antagonist binding sites being a key predictive feature for both variant pathogenicity and molecular functional consequences. Leveraging distances from ligands, we developed two machine-learning based predictors for NMDA variants: a pathogenicity predictor which outperforms currently available predictors and the first molecular function (increase/decrease) predictor. Our findings can have direct application to patient care by improving diagnostic yield for genetic neurodevelopmental disorders and by guiding personalized treatment informed by the knowledge of the molecular disease mechanism.

Rescuable sleep and synaptogenesis phenotypes in a Drosophila model of O-GlcNAc transferase intellectual disability.

O-GlcNAcylation is an essential intracellular protein modification mediated by O-GlcNAc transferase (OGT) and O-GlcNAcase (OGA). Recently, missense mutations in OGT have been linked to intellectual disability, indicating that this modification is important for the development and functioning of the nervous system. However, the processes that are most sensitive to perturbations in O-GlcNAcylation remain to be identified. Here, we uncover quantifiable phenotypes in the fruit fly Drosophila melanogaster carrying a patient-derived OGT mutation in the catalytic domain. Hypo-O-GlcNAcylation leads to defects in synaptogenesis and reduced sleep stability. Both these phenotypes can be partially rescued by genetically or chemically targeting OGA, suggesting that a balance of OGT/OGA activity is required for normal neuronal development and function.

Missense variant Met119Val in ACTB in a patient with Baraitser-Winter syndrome type 1 and mild intellectual disability.

Here we report on a Brazilian female patient with striking dysmorphic craniofacial features of the Baraitser-Winter syndrome (BRWS), including coarse face with prominent metopic ridge, highly arched eyebrows, ocular hypertelorism, ptosis, long palpebral fissures, broad nasal tip, long philtrum, full cheeks, cleft lip and palate, and low-set ears with abnormal lobe. Other clinical signs included partial agenesis of the corpus callosum, asymptomatic pineal cyst, oligodontia, cervical cystic hygroma, pterygium colli, axillary pterygium, duplicated left hallux and seizures. Sanger sequencing of the ACTB gene showed a heterozygous missense variation NM_001101.5 (ACTB):c.355A>G (p.Met119Val). This variant is located very close to the ACTB variant Thr120Ile, which results in the severe BRWS phenotype with severe intellectual disability and absence of speech, firstly described as Fryns-Aftimos syndrome. Despite this, our patient had mild developmental delay, without impairment of speech, and with moderated learning difficulties.

Driving Fatigue Onset and Visual Attention: An Electroencephalography-Driven Analysis of Ocular Behavior in a Driving Simulation Task

Attentional deficits have tragic consequences on road safety. These deficits are not solely caused by distraction, since they can also arise from other mental impairments such as, most frequently, mental fatigue. Fatigue is among the most prevalent impairing conditions while driving, degrading drivers’ cognitive and physical abilities. This issue is particularly relevant for professional drivers, who spend most of their time behind the wheel. While scientific literature already documented the behavioral effects of driving fatigue, most studies have focused on drivers under sleep deprivation or anyhow at severe fatigue degrees, since it is difficult to recognize the onset of fatigue. The present study employed an EEG-driven approach to detect early signs of fatigue in professional drivers during a simulated task, with the aim of studying visual attention as fatigue begins to set in. Short-range and long-range professional drivers were recruited to take part in a 45-min-long simulated driving experiment. Questionnaires were used to validate the experimental protocol. A previously validated EEG index, the MDrow, was adopted as the benchmark measure for identifying the “fatigued” spans. Results of the eye-tracking analysis showed that, when fatigued, professional drivers tended to focus on non-informative portions of the driving environment. This paper presents evidence that an EEG-driven approach can be used to detect the onset of fatigue while driving and to study the related visual attention patterns. It was found that the onset of fatigue did not differentially impact drivers depending on their professional activity (short- vs. long-range delivery).

A case-control study on oral health knowledge and dental behavior among individuals with developmental delays in Jordan: caregiver perspective

Aimthe aim of this study is to assess oral health knowledge and dental behavior among individuals with developmental delays intellectual and developmental disabilities (IDD) in comparison with individuals without (IDD) in Jordan.MethodsA case–control study was conducted among 317 caregivers of individuals with IDD (n = 168) and control (n = 149) groups, which involved the completion of the questionnaire. A closed-ended, validated self-designed questionnaire was distributed. The questionnaire included questions addressing participants’ oral health knowledge and behavior. Convenience sampling was used to select the caregivers from centers associated with IDD by collecting data from nearby locations. Using SPSS® software Version 22 with a 0.05 level of significance data were analyzed. A Chi-square test and contingency-table analysis were performed on the data.ResultsCaregivers for individuals with IDD in Jordan were less knowledgeable about different oral health aspects than control group (P value < 0.05). Fewer individuals in the IDD caregiver group brushed their teeth once or twice daily (83.2%), compared to the control group (93.3%). Only 22.6% of the IDD participants could brush their teeth without assistance. On the other hand, the IDD group consumed significantly less sugary foods and soda than the control group (P value < 0.05).ConclusionThe lack of knowledge among IDD caregivers in Jordan is critical which can result in poor oral health outcomes for this vulnerable population. Increasing the knowledge level for the IDD caregivers on the specific needs for IDD individuals is highly important to enhance their understanding of oral health and improve their quality of life. Caregivers with IDD should receive training programs given by oral health professionals about the need for regular dental check-up and effective oral hygiene care reduce the risk of having dental problems and oral disease.

Acceptance and Use of eHealth in Support and Psychological Therapy for People With Intellectual Disabilities: Two Cross-Sectional Studies of Health Care Professionals.

Acceptance of health care professionals is of paramount importance for the uptake and implementation of eHealth. The Unified Theory of Acceptance and Use of Technology (UTAUT) model is a widely used framework for studying health care professionals' acceptance and actual use of eHealth among general client populations. However, there is limited understanding of the eHealth acceptance of health care professionals working with people with intellectual disabilities (ID). This study aimed to explore the applicability of the UTAUT model toward understanding the acceptance, intention to use, and actual use of eHealth among support staff and therapists working with people with ID. A total of 2 cross-sectional survey studies were conducted among health care professionals from 5 health care organizations for people with ID in the Netherlands in 2018 (n=311) and in 2021 during the COVID-19 pandemic (n=326). In addition to confirmatory and exploratory factor analyses to evaluate both the original UTAUT model and an extended version, descriptive analysis was used to explore participants' characteristics, acceptance levels, and eHealth usage. Moderator analysis and multiple regression analysis were also used. A confirmatory factor analysis indicated a poor fit for both the original 4-factor UTAUT model and the extended version. An exploratory factor analysis was then conducted, resulting in a more satisfactory 5-factor model after removing 1 item with a factor loading <.40. Internal consistency of the 5 factors ranged from acceptable to good (Cronbach α=.76-.85). Collectively, all factors predicted the intention to use eHealth in 2018 (R2=0.47; F5,305=54.885; P<.001) and in 2021 (R2=0.43; F5,320=49.32; P<.001). Participants scored moderately on all 5 acceptance factors in both 2018 and 2021. Moderator analysis indicated that age and voluntariness influence the relationship between factors that determined acceptance and intention to use eHealth. The findings from 2 cross-sectional studies conducted in 2018 and 2021, using an extended UTAUT model, gave a deeper understanding of eHealth acceptance among health care professionals who work with people with ID.

Self‐Determination Skills in Ageing Women With Intellectual Disabilities

ABSTRACTBackgroundWomen with intellectual disabilities confront distinct challenges as they age, compounded by cognitive and adaptive constraints. These challenges encompass heightened health risks, barriers to social support and susceptibility to violence, underscoring the critical role of self‐determination in enhancing their quality of life.MethodThis quantitative study utilised a scale based on the Functional Model of Self‐Determination to assess self‐determination levels in 218 Chilean women aged 45 to 80 with intellectual disabilities. The research also explored potential personal and environmental factors influencing these levels.FindingsEmployed participants and those in supportive family environments demonstrated higher self‐determination levels. Moreover, women without mental health issues exhibited advanced skills in self‐regulation, empowerment and self‐realisation. Significant disparities were noted based on varying levels of intellectual disability, types of support received and socioeconomic status, highlighting the necessity for tailored and diversified support systems.ConclusionDeveloping personalised support programs that address individual and contextual differences is crucial. Despite limitations, this study emphasises the urgency for inclusive public policies aimed at eliminating socioeconomic and cultural barriers, thereby fostering environments conducive to community engagement and autonomous decision‐making.

Looking for the experts: examining course accommodations and modifications for students with intellectual disability in inclusive higher education

ABSTRACT Background Opportunities for students with intellectual disability to attend postsecondary education have increased with the rise of inclusive post-secondary education (IPSE) supports, bringing the need to examine the experiences of students and their instructors. Method This qualitative study used semi-structured interviews with 12 university instructors of IPSE students and 10 IPSE students to examine experiences with course adaptations. Results Results indicate that instructors desired greater institutional support, training, and information as they felt unsure about their abilities to support students with intellectual disability and had varied understanding of accommodations and modifications. Students wanted to be seen as capable university students, utilised peer mentor supports, and were able to provide information about how they learned in a university setting. Conclusions The study found that students were valuable but often underutilised sources of information about their own access needs and sometimes worked through and around university systems. Implications for practice are provided.

Hospital Dental Admissions and Caries Experience Among Children With Neurodevelopmental Disabilities: A Population-Based Record Linkage Cohort Study.

Within Aotearoa | New Zealand, rates of largely preventable severe caries and dental hospitalisations among children are increasing and inequalities exist. However, little population-based empirical evidence exists describing this oral health burden among children with neurodevelopmental disabilities (NDDs). This study aimed to estimate and compare the rates of dental hospital admissions in a near-national population of children aged ≤ 14 years with attention-deficit hyperactivity disorder, autism, intellectual disability or any NDD after accounting for key confounding variables. Caries status for these children was derived from an oral health screening at 4 years and also examined. The cohort were children who had their B4 School Check (B4SC) national health screening assessment undertaken between 1 January 2011 and 31 December 2018 and followed until 1 January 2020 (the study end date). Linked administrative databases, which include NDD indication and dental hospital records, were utilised. Dental hospital admissions were assessed using unadjusted and adjusted Cox proportional hazard regression models treating NDD as a discrete time-varying covariate. Caries status at 4 years of age was investigated cross-sectionally and the area under the receiver operating characteristic curve used to assess predictive accuracy. The eligible sample included 433 569 children (48.6% female) with a mean age of 9.3 years at the study end date. Overall, 16 359 (3.8%) children had at least one NDD indication and 38 574 (8.9%) had at least one dental hospitalisation. In adjusted analyses, the hazard ratio of dental hospitalisation admissions was 3.40 (95% CI: 3.22-3.60) for children indicated with any NDD compared to their non-NDD counterparts. At 4 years of age B4SC screening, 465 (17.6%) children out of 2640 indicated with any NDD had visible caries compared to 61 026 (14.3%) from 427 254 children without NDD indication (prevalence ratio = 1.24 [95% CI: 1.14-1.35]). However, the area under the receiver operating characteristic curve for this association was 0.52 (95% CI: 0.51-0.52), suggesting negligible predictive capacity. Children with NDDs in Aotearoa, New Zealand suffer from substantial oral health inequities. Targeted preventive strategies and adaptation to primary oral health services are needed to meet the needs of neurodiverse children and redress this substantial inequity. However, targeting children with NDDs at the B4SC is unlikely to mitigate these oral health inequities.

Schaaf-Yang Syndrome Presenting with Prolonged Hyperthermia in a Child: A Case Report

Introduction: Schaaf-Yang syndrome (SYS) is a rare autosomal dominant disorder, first identified in 2013, resulting from mutations in the paternal allele of the MAGEL2 gene. Schaaf-Yang syndrome exhibits clinical features similar to those of Prader-Willi syndrome (PWS), including hypotonia, joint contractures, developmental delay, and intellectual disability. However, SYS is also characterized by unique manifestations, such as recurrent hyperthermia, feeding difficulties, respiratory distress, and seizures. This case report describes the first SYS case identified in Iran. Case Presentation: A one-year-old female, born to consanguineous parents, presented with recurrent episodes of hyperthermia, respiratory distress, and seizures since the neonatal period. Despite initial empirical treatment with broad-spectrum antibiotics for suspected infections, her symptoms persisted. Physical examination revealed hypotonia, camptodactyly, and hand contractures. Genetic testing confirmed SYS with a MAGEL2 gene mutation (c.1923dupC, p.V643Gfs*70) and probable pathogenic variants in ASPM and KIF7. The hyperthermia was attributed to hypothalamic dysfunction, a hallmark of SYS, rather than an infectious cause. The patient remains under follow-up without specific pharmacological intervention. Conclusions: This case emphasizes the importance of considering SYS in patients presenting with unexplained fever, seizures, and neurodevelopmental delays. Early genetic testing is crucial for diagnosing SYS and differentiating it from conditions such as PWS or infection-related disorders. Timely diagnosis can improve management strategies and help reduce the risk of lasting neurological impairments associated with this genetic disorder.

Identification of a novel ST3GAL5 variant in a Chinese boy with GM3 synthase deficiency and literature review of variants in the ST3GAL5 gene.

GM3 synthase deficiency (GM3SD) is an autosomal recessive disorder resulting from mutations in the ST3GAL5 gene. It is characterized by intellectual disability, microcephaly, psychomotor and developmental delay, hearing and visual impairments, and changes in skin pigmentation. This study aims to broaden the genetic mutation spectrum of GM3SD through the report of a de novo mutation and a comprehensive summary of GM3SD phenotype to aid in genetic counseling and prenatal diagnosis. Compound heterozygous variants in ST3GAL5 (NM_003896.4: c.1000delC, p.Arg334Glufs*15 and c.207-1G > T, p.Cys70Glufs*81) were identified via trio-whole exome sequencing (trio-WES) and confirmed pathogenic through functional experiments. Notably, c.207-1G > T was a newly discovered variant. Additionally, previously reported GM3SD mutations were classified into R288X and non-R288X, revealing that R288X mutations were more likely to manifest developmental, emotional abnormalities, and severe feeding difficulties. This study reveals a novel mutation in ST3GAL5 and provides a comprehensive overview of GM3SD phenotype, aiding in the diagnosis and genetic counseling of GM3SD in clinical practice.

Abstract 4120458: Predictors of School Non-Engagement in School Aged Children and Adolescents Born with Heart Disease

Introduction: School engagement, or caring about doing well and doing required homework, is an important factor for academic success and may contribute to poorer academic outcomes in children born with heart disease (HD), compared to heart-healthy peers. Factors that influence lack of school engagement in children born with HD are not well known. Research Question: What factors predict school non-engagement in students with HD? Aims: To identify factors that predict school non-engagement in students with HD to assist in earlier detection and support for students at increased risk. Methods: We analyzed data from the 2022 National Survey of Children’s Health (NSCH), using procedures for complex weighted survey data. School-related outcomes in children ages 6 to 17 years born with and without HD were compared using Chi-square tests. Multivariate logistic regression was used to examine predictors of school non-engagement in students with HD. Results/Data: Of 54,065 NSCH responses, 34,284 were children ages 6 to 17 years, and 826 of these were born with HD. Children born with HD had lower school engagement (p&lt;0.001) and missed more days of school (p&lt;0.001) than peers not born with HD, but grades were not different between groups. Students born with HD were more likely than peers not born with HD to be bullied (p = 0.001), have a diagnosis of anxiety (3.71% vs 1.95%, p&lt;0.001) or depression (3.56% vs 2.09%, p =0.012), require a Special Education Plan (34.9% vs 16.1%, p&lt;0.001), or to receive mental health services (23% vs 14%, p &lt;0.001). Multivariate logistic regression identified factors that significantly predicted school non-engagement in students born with HD, including diagnosis of attention deficit/hyperactivity disorder (ADHD) (aOR 1.94, 95% CI [1.20, 4.58], p=0.013), behavior/conduct problems (aOR 2.77, 95% CI [1.46, 5.23], p=0.002), or learning disability (aOR 3.44, 95% CI [1.79, 6.59], p&lt;0.001). Sociodemographic variables, days of missed school, anxiety, depression, intellectual disability, autism spectrum disorder, and speech disorder were not significant predictors of school non-engagement. Special healthcare needs status neared significance in predicting lack of school engagement (p = 0.056) Conclusions: We identified ADHD, behavior/conduct problems, and learning disabilities as predictors of school non-engagement in students with HD. This information can be used to identify at-risk students born with HD who may benefit from proactive screening and support.

Factors contributing to severe scoliosis after open chest surgery for congenital heart disease: a case-control analysis.

Previous reports have identified factors associated with open chest surgery for congenital heart disease (CHD) and scoliosis. However, these reports included conditions such as Down syndrome and Marfan syndrome, which involve both cardiac disease and scoliosis. The relationships between these factors and open chest surgery remain unclear. This study aimed to identify factors contributing to severe scoliosis in CHD patients who have undergone open chest surgery. Seventy-four post-CHD surgery patients with severe scoliosis (Scoliosis group) and 30 post-CHD surgery patients without scoliosis (NS group), excluding those with any syndrome or intellectual disability, were retrospectively analyzed. Patient background characteristics and radiographic parameters were compared between the NS and Scoliosis groups. Furthermore, the patients in the Scoliosis group were classified into three categories, namely, mild scoliosis, moderate scoliosis, and severe scoliosis, and the results were compared among the four groups. Eighteen patients in the NS group and 63 in the Scoliosis group met the inclusion criteria. Compared with the NS group, the Scoliosis group included significantly more girls and patients who had younger ages at first CHD surgery and multiple open chest surgeries. Severe scoliosis progression was observed in patients who underwent multiple surgeries for severe CHD with cardiomegaly. Progression to severe scoliosis was noted in patients with younger ages at first CHD surgery and those who underwent multiple surgeries for severe CHD. Assessing spinal deformities should be a key aspect of postoperative care for CHD, particularly in patients with severe CHD who are undergoing multiple chest surgeries. III.

Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay.

Understanding the genetic basis of developmental delay (DD) and intellectual disability (ID) remains a considerable clinical challenge. This study evaluated the clinical application of trio whole exome sequencing (WES) in children diagnosed with DD/ID. The study comprised 173 children with unexplained DD/ID. The participants underwent trio-WES and their demographic, clinical, and genetic characteristics were evaluated. Based on their clinical features, the participants were classified into two groups for further analysis: a syndromic DD/ID group and a non-syndromic DD/ID group. The genetic diagnostic yield of the 173 children diagnosed with DD/ID was 49.7% (86/173). This included 58 pathogenic or likely pathogenic single nucleotide variants (SNVs) in 41 genes identified across 54 individuals (31.2%) through trio-WES. Among these, 22 SNVs had not been previously reported. Additionally, 30 copy number variations (CNVs) were detected in 36 individuals (20.8%). The diagnostic yield in the syndromic DD/ID group was higher than that in the non-syndromic DD/ID group (57.8% vs. 47.2%, P < 0.001). Within the syndromic DD/ID subgroup, the diagnostic yield of the DD/ID with epilepsy subgroup (83.9%) was significantly higher than those of the other subgroups (P < 0.001). Based on the analysis of the individuals' clinical phenotypes, the individuals with facial dysmorphism shown a higher diagnostic yield (68.2%, P < 0.001). The diagnostic yield of SNVs was higher in the individuals with DD/ID accompanied by epilepsy, whereas the diagnostic yield of CNVs was higher in the DD/ID without epilepsy group. Similarly, the diagnostic yield of de novo SNVs was higher in the DD/ID with epilepsy group, while the diagnostic yield of de novo CNVs was higher in the DD/ID without epilepsy group (all P < 0.001). Trio-WES is a crucial tool for the genetic diagnosis of DD/ID, demonstrating a diagnostic yield of up to 49.7%. De novo variants in autosomal dominant genes are significant contributors to DD/ID, particularly in non-consanguineous families.

Transferable lessons for care provided to children with intellectual and developmental disabilities based on an analysis of facilitators and barriers to SARS-CoV-2 testing

IntroductionThe purpose of this article is to report on the lessons learned from parents and caregivers of school-age children with intellectual and developmental disabilities (IDD) in Missouri and Maryland regarding the facilitators and barriers to SARS-COV-2 testing.MethodsParents participated in interview sessions that employed fuzzy cognitive mapping (FCM), a reliable knowledge-based method that facilitates democratic discourse to understand how stakeholders make decisions. A total of 94 parents from Missouri (58) and Maryland (36) participated in the FCM sessions.ResultsEight primary barriers and eight primary facilitating factors were identified that influence a successful SARS-COV-2 test. Analyzing the connections between these factors provided valuable information about not only which ideas were most central to the goal of a successful test, but also which factors could be modified to improve the likelihood of success. Results indicate that the physical environment and child preparedness play a central role in successful SARS-COV-2 testing for children with IDD; however, these factors within the context of other invasive procedures should be studied further.DiscussionIt is likely that the findings from this study are transferable to other diagnostic procedures such as influenza, respiratory syncytial virus (RSV), and methicillin-resistant Staphylococcus aureas (MRSA), which require similar testing techniques using a nasopharyngeal swab.

Expanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion.

Mowat-Wilson syndrome (MWS) is a complex disorder caused by heterozygous ZEB2 gene variations creating haploinsufficiency. The main clinical features are evolving facial dysmorphism, intellectual disability, eye and brain malformations, and various organ anomalies. Our study examines 10 Turkish patients, who had clinical diagnosis, underwent evaluation, clinical investigations, and genetic tests in multiple tertiary centers across Türkiye, and were molecularly diagnosed with MWS. Molecular analysis with sequencing techniques alongside array testing unveiled disease-causing variations in addition to novel variants, including two siblings with recurrent multiexon deletion. Clinical presentations varied, featuring neurodevelopmental delay and characteristic facial traits and organ malformations across all cases, alongside less frequently reported manifestations such as laryngomalacia or rocker bottom feet in addition to new features such as macroorchidism and osteoporosis. Our findings expand the genetic and phenotypical spectrum of MWS, and hint at potential implications of gonadal mosaicism. While establishing clear genotype-phenotype correlations poses challenges, comprehensive genetic testing remains pivotal for precise diagnosis and management. The study highlights the complexity of MWS genetics, with potential implications of gonadal mosaicism on recurrence. Further research is needed to elucidate mechanisms driving phenotypic variability, potential hotspots, and mechanisms for recurrent variations. We report on the largest cohort with MWS from Türkiye.

Assessing the Parenting Stress Index-Short Form (PSI-SF) for Latinx Parents of Children with Intellectual and Developmental Disabilities Within Exploratory Structural Equation Modeling and Structural Equation Modeling-Based Generalizability Theory Frameworks

Although the Parenting Stress Index-Short Form (PSI-SF) is widely applicable, there has been a dearth of research on the psychometric properties and item wording effects associated with the cultural sensitivity of the instrument. This study investigated the psychometric properties, the factor structure, and the negative and positive item wording effects of PSI-SF for 96 Latinx parents of children with intellectual and developmental disabilities in the United States within exploratory structural equation modeling, and structural equation modeling-based generalizability theory frameworks. This study produces the following noteworthy findings. First, the ESEM bifactor model with negatively and positively phrased items best captured the theoretical frameworks underlying the structure of the PSI-SF. Second, adding method factors enhanced the model fits of all the factor models. Third, this study discovered several items with great proportions of method factors. This study recommended that the items with high proportions of method factors, which may likely be culturally insensitive to Latinx parents, be examined further and refined. With the use of accurately assessed PSI-SF scores, practitioners will be better able to support and empower Latinx parents of children with IDD and better meet their needs through the FIRME program, a parent advocacy initiative.

Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience

AbstractBackgroundClassic homocystinuria (HCU) is a rare inborn metabolic disease that is generally asymptomatic at birth. If untreated, it can cause a wide range of complications including intellectual disability, lens dislocation, and thromboembolism. This study aimed to describe the natural history and the molecular findings of patients with HCU, and to assess the importance of early diagnosis.MethodsThis study retrospectively collected data on patients attending the metabolic unit at Prince Sultan Military Medical City, Riyadh, Saudi Arabia from 2011 to 2024. Demographic, clinical, and molecular data was extracted from the electronic medical records.ResultsAmong the 33 patients with HCU enrolled, 5/33 (15%) were diagnosed by newborn screening and the rest were diagnosed on clinical grounds. The complication profile was vast, with neuropsychiatric, musculoskeletal, ophthalmic, and thromboembolic morbidities complicating the disease course in 28/33 (85%) of the patients. None of the newborn screened patients had complications while all of the non‐newborn screened patients had at least one complication, p &lt; 0.0001. The majority of parents in this cohort were highly consanguineous, with 90% had first or second cousin marriage. Seven previously reported variants were detected in this cohort and one novel variant was found in three patients (c.828+2‐828+ 3 delins ACACTTGCATCC, p.?). The known pathogenic variant (c.969G&gt;A, p. (Trp323*)) was seen in most of the patients, with all of them coming from one tribe.ConclusionsThis cohort gives further evidence that the newborn screening for HCU is likely to prevent the complications associated with the disease at least in the first few years of life. Therefore, newborn screening for HCU should be encouraged. Our molecular studies revealed the presence of a founder variant, detected in patients from a single tribe. This suggests that specific mutation testing may be cost‐effective for individuals from certain ethnicities.

Influence of false beliefs and empathy on white lies among children with mild intellectual disabilities: focusing on trait and state perspectives

Children with mild intellectual disabilities often exhibit poor social skills owing to intellectual impairments. This makes it essential to enhance their communication abilities. This study provides a novel contribution by systematically investigating the effects of false beliefs and empathy on white lie behavior among children with mild intellectual disabilities, considering both state and trait dimensions. Experiment 1 examined the impact of trait-level false beliefs and trait-level empathy on trait-level white lies. The results demonstrated that trait-level false beliefs and trait-level empathy both significantly promoted white lie behavior. Experiment 2 explored the influence of state-level false beliefs and state-level empathy on state-level white lies and found similar positive effects. By integrating both trait and state perspectives, this research fills a gap in the literature on white lie behavior in children with mild intellectual disabilities and uncovers the mechanisms through which false beliefs and empathy operate in different contexts. These findings offer comprehensive educational and intervention strategies to improve social adaptation in children with mild intellectual disabilities.