Search Results (102)

Background/Objectives: Speech and language delay (SLD) is one of the most prevalent developmental conditions in childhood, with post-pandemic data indicating a notable increase in identified cases. Within this group, expressive language disorder (ELD) frequently appears alongside neurodevelopmental disorders such as autism spectrum disorder (ASD), epilepsy, and intellectual disability. Although awareness of ELD has grown, the role of genetic testing in its evaluation remains unclear, as such testing is not routinely pursued for isolated expressive language concerns. This gap highlights the need to better define the diagnostic value of genetic analysis and to examine the interval between an ELD diagnosis and the return of genetic testing results. Methods: This study investigated genetic contributions to ELD using the National Brain Gene Registry (BGR), a multisite database of rare neurodevelopmental disorders. Participants with ICD-10 code F80.1 were identified through electronic health records; demographic data, comorbidities, genetic variants, inheritance patterns, age at diagnosis, and timing of interventions were analyzed. Results: Of 687 BGR participants, 32 (4.7%) had documented ELD. The cohort, aged 3–19 years, presented with common comorbidities like developmental delays, ASD, epilepsy, and hypotonia. Across 42 genes, 49 unique variants were identified: 26 pathogenic or likely pathogenic, 22 variants of uncertain significance, and one benign variant. Seventeen variants were de novo, and 10 participants carried multiple variants. Most children (80%) received an expressive language diagnosis prior to genetic testing, with reports returned an average of 1.5 years following the diagnosis. Conclusions: Overall, children with ELD commonly carry genetic variants and neurodevelopmental comorbidities, yet genetic testing is typically pursued well after diagnosis and does not currently alter early management. These findings underscore the need for clearer, evidence-based guidelines to define when genetic testing adds diagnostic or prognostic value in the evaluation of ELD. Full article

Background/Objectives: This study examines factors associated with child overweight/obesity (OW/OB), pre-COVID-19 and during the COVID-19 pandemic, among all U.S. children aged 10–17 years, with or without developmental disabilities (DD) and, separately, among the subgroup of children diagnosed with a DD. Methods: Using data from the National Survey of Children’s Health (NSCH, 2018–2021), we applied descriptive statistics and multivariate logistic regression analyses to estimate the odds ratios of associations between family resilience, screen time, and childhood overweight/obesity. Family resilience measures families’ communication and problem-solving behaviors. Screentime is time spent on TV, computer, cellphone or electronic devices. Results: In descriptive analyses, during COVID-19, 35.8% of all children were identified as OW/OB compared to 32.8% pre-COVID-19—a weighted increase of 3.0%. Among children with developmental disabilities, OW/OB increased from 37.4% to 39.3%. Children reporting ≥4 h of screentime use increased from pre-COVID-19 to during COVID-19 in both groups (All Children: pre-COVID: 33.5%, during COVID: 41.6%; Developmental Disabilities: pre-COVID: 39.9%, during COVID: 49.4%). Among all children, there was a positive and strong association between screentime use and OW/OB at both pre- and during COVID-19 years. Children belonging to households with low family resiliency had 1.31 times the odds of being overweight/obese (95% CI, 1.06–1.63, p < 0.05) before the pandemic. However, these results were not significant after the pandemic. Conclusions: Prevalence of overweight/obesity in all children and children with DD during the COVID-19 pandemic continued to rise. Screentime was found to be a key determinant in increased weight status. Contrary to our hypothesis, family resilience failed to emerge as a significant protective factor for OW/OB; additional research is needed to explore the protective role of family resiliency on childhood obesity. Study findings may provide insights into developing best practices and tailored interventions with early OW/OB screening and programs tailored towards the youngest group of children aged 10–12 years or below. Full article

Objectives: Global Developmental Delay (GDD) and Intellectual Disability (ID) are prevalent neurodevelopmental disorders with significant disability burden, and genetic factors play a crucial role in their etiology. This study aimed to develop and validate a clinical prediction model for identifying children with GDD/ID at high genetic risk, facilitating targeted genetic testing. Methods: We retrospectively analyzed clinical data of children with GDD/ID treated at Nanjing Children’s Hospital from January 2019 to December 2023. Children with comorbid Autism Spectrum Disorder (ASD) were excluded. The dataset was randomly split into training and validation sets (7:3 ratio). Lasso regression was used to identify potential predictive factors for positive genetic test results, followed by multivariable logistic regression to select independent predictors, which were incorporated into a nomogram. Model performance was evaluated by discrimination, calibration, and clinical utility using decision curve analysis in both sets. Results: Four independent predictors—craniofacial abnormalities, visceral abnormalities, physical growth abnormalities, and family history of ID—were identified. The resulting nomogram demonstrated an area under the curve (AUC) of 0.734., with good calibration and positive net benefit on decision curve analysis. Validation confirmed the reliability of the model. Conclusions: We developed a clinically applicable prediction model to identify high genetic risk among children with GDD/ID without ASD. This model may serve as a preliminary screening tool to assist clinicians in prioritizing genetic testing and improving diagnostic efficiency in clinical practice. Full article

Individuals with mild nonspecific intellectual disability (NSID) often exhibit delayed literacy development. Unfortunately, how cognitive–linguistic processing profiles influence literacy in this population lacks clarity. This study investigated literacy development in this population, considering the cognitive–linguistic mechanisms. The Specialist Battery for the Diagnosis of Cognitive Abilities and School Skills was used to assess cognitive–linguistic abilities and literacy-related skills in 122 participants. Fuzzy C-means clustering was used to identify processing profiles. Developmental age equivalents in literacy were estimated using local regression models and matched comparisons with typically developing peers. Two cognitive–linguistic profiles emerged: globally weaker and moderately developed. Those with NSID performed significantly lower than their peers in all domains. Their literacy skills aligned with those of children 2–4 years younger, and plateaued after age 15. Cognitive–linguistic heterogeneity in students with NSID should guide targeted literacy interventions. The findings inform ICD-11 educational expectations for individuals with mild NSID. Full article

This study applies psychological network analysis to explore the structure and dynamics of parental stress, offering a novel perspective beyond traditional latent variable approaches. Rather than treating parental stress as a unidimensional construct, network analysis conceptualizes it as a system of interrelated emotional, behavioral, and contextual symptoms. Using cross-sectional data from Latinx parents of children with intellectual and developmental disabilities (IDD), we compared and identified key central and bridge stress symptoms of Latinx parents of children with autism versus other disabilities that hold influential positions within the stress network. These findings suggest that certain stressors may act as hubs, reinforcing other stress components and potentially serving as high-impact targets for intervention. Network analysis also highlights how symptom relationships vary by types of disabilities, offering insight into tailored support strategies. Overall, this approach provides a dynamic and clinically actionable framework for understanding parental stress, with implications for assessment, early intervention, and personalized mental health care for parents. Full article

This study examined the psychometric properties of the Family Empowerment Scale (FES) among Latinx parents of children with intellectual and developmental disabilities (IDDs), a population historically underrepresented in empowerment research. Given the cultural and contextual factors that may shape empowerment experiences, Exploratory Structural Equation Modeling (ESEM) was utilized to assess the scale’s structural validity. ESEM supports a four-factor model that aligns with, but also refines, the original structure of the FES. The lack of loading for several items indicates the need for revisions that better reflect the lived experiences of Latinx parents. ESEM provided a more nuanced view of the scale’s dimensional structure, reinforcing the value of culturally informed psychometric evaluation. These results underscore the importance of validating empowerment measures within diverse populations to inform equitable family-centered practices. Full article

Odontophobia, defined as the intense and persistent fear of dentists or dental care, is a widely underestimated, yet clinically significant, barrier to oral health. It affects individuals across all age groups, from children to the elderly, and is particularly prevalent among those with intellectual or developmental disabilities. Odontophobia is a multifactorial condition influenced by psychological, sensory, cognitive, and sociocultural factors. Left unaddressed, it contributes to poor oral health outcomes, avoidant behavior, and broader health disparities. This perspective paper explores the clinical manifestations and principles of management of odontophobia across populations and different age groups, highlighting the limitations of pharmacological sedation, especially when used in isolation. Instead, evidence supports the use of cognitive behavioral strategies, desensitization protocols, sensory-adaptive environments, and communication-based approaches, such as the “tell-show-do” method. Innovative technologies, including virtual reality, offer additional promise. This paper also addresses critical gaps in the research, the paucity of tailored interventions for vulnerable groups, and both ethical and legal complexities surrounding consent, autonomy, and equitable access. Ultimately, managing odontophobia requires a shift toward “person-centered” and “trauma-informed” dental care, supported by interdisciplinary collaboration, inclusive infrastructure, and policy-level commitment to reduce fear-based disparities in oral health. Full article

Family empowerment is a key component of effective family-centered practices in healthcare, mental health, and educational services. The Family Empowerment Scale (FES) is the most commonly used instrument to evaluate empowerment in families raising children with emotional, behavioral, or developmental disorders. Despite its importance, the FES for diverse populations, especially Latinx parents, has rarely been evaluated using innovative psychometric approaches. In this study, we evaluated key dimensions and psychometric evidence of the Family Empowerment Scale (FES) for 96 Latinx parents of children with intellectual and developmental disabilities (IDD) in the United States using an exploratory graph analysis (EGA). The EGA identified a five-dimensional structure, and EGA models outperformed the original CFA 3-factor models for both parents of children with autism and other disabilities. This study identified distinct, meaningful dimensions of empowerment that reflect both shared and unique empowerment experiences across two Latinx parent groups. These insights can inform the design of culturally responsive interventions, instruments, and policies that more precisely capture and boost empowerment in Latinx families. This study contributes to closing a gap in the literature by elevating the voices and experiences of Latinx families by laying the groundwork for more equitable support systems in special education and disability services. Full article

Fragile X syndrome (FXS) is the most common form of X-linked intellectual disability (ID). This study aimed to share 30 years of experience in diagnosing FXS and determine its frequency in Thailand. We retrospectively reviewed 1480 unrelated patients (1390 males and 90 females) with ID, developmental delay, or autism spectrum disorder, or individuals referred for FXS DNA testing at Songklanagarind Hospital, Thailand, over a 30-year period. The samples were analyzed using cytogenetic methods, PCR-based techniques, and/or Southern blot analysis. Full mutations (>200 CGG repeats) were identified in 100 males (7.2%) and three females (3.3%). An intermediate allele was detected in one male, while no premutation was found in the index cases. Two males were suspected to have FMR1 gene deletions. Twelve families underwent prenatal testing during this study. Most families undergoing prenatal FXS diagnosis involved mothers who were premutation carriers and had given birth to children affected by FXS. This study represents the largest series of molecular genetic FXS testing cases reported in Thailand. The frequency of FXS identified in different cohorts of Thai patients across various periods was approximately 7%. This study enhances public awareness of at-risk populations and highlights the importance of prenatal testing and genetic counseling for vulnerable families. Full article

Objectives: The primary objective of this study was to determine whether motor disorders are significantly more prevalent in children with Autism Spectrum Disorder (ASD) without co-occurring genetic or neurological conditions compared to neurotypical children. Another aim was to explore the applicability of the MABC-2 test for assessing motor skills in a Polish cohort of children with ASD. Additionally, this study sought to develop a basic framework for motor skill assessment in children with autism. Methods: This study included 166 Caucasian children, both sexes, aged 5–12 years, without intellectual disability (IQ ≥ 70), without concomitant genetic or neurological disorders, particularly epilepsy or cerebral palsy. The study group consisted of children with ASD (n = 71), and the control group consisted of neurotypical children (n = 95). The participants were assessed with the Movement Assessment Battery for Children–second edition (MABC-2), MABC-2 checklist and the Developmental Coordination Disorder Questionnaire (DCDQ), used as a reference point. Results: The children with ASD obtained significantly lower MABC-2 test results in all subtests in comparison with the control group. The children with suspected or diagnosed coordination disorders were characterized by a significantly greater number of co-occurring non-motor factors than the other participants of this study. MABC-2 test showed greater consistency with DCDQ than with the MABC-2 questionnaire. Conclusions: Children with ASD present a lower level of manual dexterity and balance and greater difficulties in performing tasks, including throwing and catching, in comparison with neurotypical children. The MABC-2 test with the MABC-2 checklist and DCDQ questionnaire constitute a complementary diagnostic tool. Full article

Background: As national and international reports reveal, significant health care transition (HCT) service disparities exist for youth and young adults with intellectual and developmental disabilities (YYAs with IDD). The development of the HCT model necessitates informed perspectives from a broad constituency, including consumers and families. Parents’ retrospective perspectives of their sons’ or daughters’ HCT experiences are presented to enlarge the understanding of the service need. Methodology: Eleven parents were recruited virtually from parent support/disability advocate groups via an email distribution list of the Children’s Hospital Los Angeles University Center for Excellence in Developmental Disabilities. Parents who consented to participate were interviewed by phone using an interview guide with 11 open-ended items. Three questions focused on the barriers and facilitators associated with the HCT experience are reported. Findings: Four major themes were generated from the analysis of data gathered from parents pertaining to their sons’ or daughters’ health care transition experiences, focusing on the transfer of care. Two major themes were related to HCT barriers—Pediatric Care Contrasted with Adult-Focused Care and Transfer of Care Barriers—and two were related to HCT facilitators—Transfer of Care Facilitators and Transfer of Care Recommendations. Each of the major themes included subthemes. Conclusions: Parents openly shared their sons’ or daughters’ HCT experiences, which illuminated the scope of their challenges and the assistance received. These insights provide rich descriptions of the barriers they and their adult children faced as they proceeded with navigating new systems of health care. The reported data find support in other previously conducted studies. Full article

Background: Developmental delay and intellectual disability (DD/ID) are frequently accompanied by epilepsy, and growing evidence implicates variants in voltage-gated calcium channel genes in their pathogenesis. This study aimed to investigate the association of polymorphisms in CACNA1A, CACNA1C, and CACNA1H with DD/ID and epilepsy comorbidity in Korean children. Methods: We retrospectively analyzed 141 pediatric patients diagnosed with DD/ID who underwent whole-exome sequencing (WES) and were not found to have pathogenic monogenic variants. Nine single-nucleotide polymorphisms (SNPs) across CACNA1A, CACNA1C, and CACNA1H were selected based on functional annotation scores and prior literature. Genotype data were extracted from WES variant files, and allele and genotype frequencies were compared with control data from the gnomAD East Asian population and the Korean Reference Genome Database (KRGDB). Subgroup analyses were performed according to epilepsy comorbidity. Results: The CACNA1A rs16023 variant showed a significantly higher B allele frequency in DD/ID patients than in both control datasets and was also associated with epilepsy comorbidity. Genotype distribution analysis revealed that the BB genotype of rs16023 was more frequent in patients with epilepsy. Conclusions: The CACNA1A rs16023 variant may contribute to genetic susceptibility to DD/ID and epilepsy in Korean children, potentially through regulatory mechanisms. These findings support the relevance of calcium channel genes in neurodevelopmental disorders and highlight the importance of integrating functional annotation in variant prioritization. Full article

Introduction: People with disabilities are characterized by suboptimal health and lower self-rating health. Their need for health care is greater, they often have a higher prevalence of health problems and they have more difficulty accessing health care. The aim of this study was to assess the health behaviors and health indicators of 12–18-year-old young people with intellectual disabilities and autism spectrum disorder, and to explore their school-related perceptions in the Northern Great Plain region of Hungary. Materials and Methods: A cross-sectional questionnaire survey was conducted with the participation of 185 young people. A custom questionnaire was used, based on the Health Behavior in School-aged Children (HBSC) survey, assessing eating habits, oral care, physical activity, mental well-being, and self-reported health status. The sample was categorized into three groups: the ID1 (Intellectual Disability level 1) group, encompassing young individuals with mild intellectual disability; the ID2 group, encompassing young people with moderate intellectual disability; and the ID+ASD group, encompassing young individuals affected by both intellectual disability and autism spectrum disorder. Results: Consumption of various food types was below optimal levels. Low intake of fruits and vegetables was common, with only 21.6% of the respondents consuming fruit daily and 23.8% consuming vegetables daily. ID1 group reported significantly higher rates of nervousness several times a week (17.8% vs. 5.6% and 6.9%, p < 0.001), sleep difficulties (28.8% vs. 7.4% and 15.5%, p = 0.032), and dizziness (9.6% vs. 1.9% and 3.4%, p = 0.022) compared to the other two groups. A third school-related factor, related to negative emotions, showed a near-significant difference (p = 0.064), suggesting that students with both autism spectrum disorder and intellectual disability perceive lower levels of acceptance from teachers. On school-free days, computer usage was significantly highest in the ID+ASD group; 50% of them used a computer for at least 4 h per day. Conclusions: To improve mental well-being among affected children, psychological support and the implementation of mental health programs are recommended. In addition to teaching stress management techniques and coping mechanisms, integrating relaxation techniques into comprehensive developmental programs—both individually and in groups—is advised. For teachers, it is recommended to acquire disability-specific communication strategies. Full article

Children with intellectual disabilities experience unique developmental, social, and environmental challenges that intersect with adverse childhood experiences (ACEs) and positive childhood experiences (PCEs), shaping their psychosocial outcomes. While prior research has mainly examined single adversities or protective elements, the frameworks of ACEs and PCEs provide a broader understanding of their cumulative and interactive effects. However, these constructs remain underexplored in children with intellectual disabilities. This scoping review maps the range, conceptualization, and impact of ACEs, PCEs, and related concepts on psychosocial outcomes. Following the Joanna Briggs Institute (JBI) methodology, a search of PsycInfo, MEDLINE, CINAHL, Web of Science, and Google Scholar identified studies until October 2024. Two reviewers screened and extracted data using standardized criteria. Findings reveal variability in how ACEs and PCEs are defined and measured. ACE exposure, particularly the cumulative impact of multiple ACEs (polyvictimization), links to adverse psychosocial outcomes, including emotional (e.g., anxiety, depression, Post-Traumatic Stress Disorder), behavioral (e.g., aggression, conduct problems), and developmental (e.g., social and adaptive skill deficits) difficulties. PCEs—such as positive parent–child relationships, teacher–student support, and peer acceptance—mitigate risks, though impact varies by context. Intellectual disabilities severity and socioeconomic adversity shape associations. Further research is needed to inform the adaptation of ACE–PCE frameworks for children with intellectual disabilities. Full article

Epilepsy is a prevalent neurological condition, having a wide range of phenotypic traits, which complicate the diagnosis process. Next-generation sequencing (NGS) techniques have improved the diagnostics for unexplained epilepsies. Our goal was to evaluate the utility and impact of genetic testing in the clinical management of pediatric epilepsies. In addition, we aimed to identify clinical factors that could predict a genetic diagnosis. This was a retrospective study of 140 pediatric patients with epilepsy with or without other neurological conditions that underwent NGS testing (multigene panel, WES = whole exome sequencing and/or WGS = whole genome sequencing). A comparison between genetically diagnosed versus non-diagnosed children was performed based on different clinical features. Univariate and multivariate logistic regression analysis was performed to identify clinical predictors of a positive genetic diagnosis. Most children underwent gene panel testing, while 30 had exome sequencing and 3 had genome sequencing. The overall diagnostic yield of genetic testing was 28.6% (40/140) for more than 28 genes. The most frequently identified genes with causative variants were SCN1A (n = 4), SCN2A (n = 3), STXBP1 (n = 3), MECP2 (n = 2), KCNQ2 (n = 2), PRRT2 (n = 2), and NEXMIF (n = 2). Significant predictors from the logistic regression model were a younger age at seizure onset (p = 0.015), the presence of intellectual disability (p = 0.021), and facial dysmorphism (p = 0.049). A genetic diagnosis led to an impact on the choice or duration of medication in 85% (34/40) of the children, as well as the recommendation for screening of comorbidities or multidisciplinary referrals in 45% (18/40) of children. Epilepsy is a highly heterogeneous disorder, both genetically and phenotypically. Less than one third of patients had a genetic diagnosis identified using panels, exomes, and/or genomes. An early onset and syndromic features (including global developmental delay) were more likely to receive a diagnosis and benefit from optimized disease management. Full article