Search Results (145)

Background: Dyggve–Melchior–Clausen syndrome (DMC) is a rare autosomal recessive skeletal dysplasia characterized by dwarfism, coarse facial features, and intellectual disability. Caused by loss-of-function variants in the DYM gene, which encodes dymeclin, DMC is predominantly reported in consanguineous populations but remains poorly studied in South America. Methods: We report a 21-year-old Ecuadorian male with clinical features suggestive of DMC. Comprehensive clinical, radiological, and genetic evaluations were conducted, including clinical exome sequencing and Sanger sequencing, followed by an in silico analysis to assess the structural and functional consequences of the identified variant. Results: Exome sequencing identified a homozygous c.1878delA (p.Lys626fs) frameshift variant in the DYM gene, which was confirmed by Sanger sequencing as inherited from heterozygous parents. Variants of uncertain significance were detected in other skeletal dysplasia-related genes but did not correlate with the phenotype. A comprehensive review of reported DYM variants was also conducted. Conclusions: This report documents the first case of DMC in Ecuador and the second in South America, expanding the global understanding of DMC’s genetic diversity. It underscores the value of next-generation sequencing in rare disease diagnostics and highlights the critical need for inclusive genomic research in underrepresented populations to improve the understanding of genetic heterogeneity and rare disease epidemiology. Full article

Background: Eating behavior problems significantly affect the physical health and quality of life of children with autism spectrum disorder and intellectual disabilities (co-occurring ASD/ID). This study aimed to evaluate the effects of a 12-week Ball Combination Training Program (BCTP), continuous theta burst stimulation (cTBS), and an intervention combining both (in the CIG) on the eating behaviors of children with co-occurring ASD/ID. Methods: A total of 48 participants were assigned into one of four groups: the BCTP (n = 13), cTBS (n = 12), the CIG (n = 11), and a control group (n = 12). The intervention groups received their respective treatments in addition to the routine institutional rehabilitation, whereas the control group only received the standard institutional rehabilitation. The intervention outcomes were assessed using the parent-reported Children’s Eating Behavior Questionnaire (CEBQ). Results: The results indicated that all three intervention methods led to improvements in their eating behavior after 12 weeks. Specifically, the BCTP group and the CIG demonstrated significantly reduced Food Fussiness behavior, while the children’s Enjoyment of Food was markedly enhanced in the cTBS group and the CIG. Furthermore, the CIG experienced a particularly notable effect in terms of the improvement in the Satiety Responsiveness dimension of their eating behavior. Among the three approaches, the CIG demonstrated a clear advantage over the single interventions in terms of both the breadth and magnitude of its improvements. Conclusions: This study confirmed the effectiveness of these three intervention strategies in addressing dietary behavior problems among children with co-occurring ASD/ID. Future research should focus on exploring the combined intervention approach further, particularly its potential synergy, while delving deeper into the neural mechanisms underlying these behavioral improvements. Full article

Support of parents with intellectual disabilities should be long-term and start as early as possible. They, however, often come only into view late. The aim of the present study was to examine the barriers and facilitators in reaching and supporting parents with intellectual disabilities and young children in the Netherlands. Fourteen professionals, three volunteers, and three mothers with intellectual disabilities participated in four focus groups. Results revealed four themes: (1) improve professional development, (2) mutual professional/parent distrust, (3) strengthen support network systems, and (4) improve child welfare system responses. Professionals and policymakers lack knowledge of parents with intellectual disabilities and skills to build trust and support them adequately. Professional development is warranted. The informal network and involvement of fathers is limited and, thus, could be increased. Finally, the way the system is organized impedes adequate support. Long-term involvement and, thus, a different use of resources is needed. Reaching parents with intellectual disabilities as early as possible is important but challenging due to multiple interacting factors. Integral actions at multiple levels are essential to improve preventive care for these parents. Full article

Background: Children with disabilities face an increased risk of neglect and maltreatment due to their dependence on caregivers, social isolation, and challenges in seeking help. While extensive research has examined child abuse, neglect remains an underexplored yet pervasive issue affecting this vulnerable population. Objective: This scoping review synthesizes literature from the past decade to assess the prevalence, characteristics, and risk factors of neglect among children with disabilities, aiming to identify gaps in research and inform policy and intervention efforts. Methods: Following the PRISMA-ScR guidelines, a systematic search was conducted across multiple electronic databases, including PsycNET, Social Services Abstracts, ERIC, PubMed, and EBSCO. Studies were included if they focused on neglect among children with disabilities and were published in English within the last ten years. Thematic analysis was employed to extract and categorize findings. Results: Sixteen studies met the inclusion criteria, revealing a significantly higher prevalence of neglect among children with disabilities compared to their typically developing peers. The type and severity of disability influenced the likelihood and nature of neglect, with children with intellectual disabilities (ID), autism spectrum disorder (ASD), and sensory impairments facing particularly high risks. Key risk factors included parental stress, economic hardship, limited access to resources, and systemic failures in early identification and intervention. Despite the severity of neglect, evidence-based preventive strategies remain scarce, and existing child protection frameworks often fail to account for the unique needs of children with disabilities. Conclusions: The findings underscore the urgent need for targeted interventions, specialized training for professionals, and policy reforms to address the neglect of children with disabilities. Future research should focus on developing and evaluating culturally sensitive and disability-specific support systems to mitigate the long-term consequences of neglect. Full article

Adolescents with intellectual disability have a right to sexuality education, including relationships and consent education. This scoping review explored relationships and consent education for adolescents with intellectual disability. We searched across four databases (Scopus, Medline, Web of Science and PubMed) to identify studies focusing on the provision of, experiences with and needs of education on relationships and consent for adolescents aged 12–19 with intellectual disability. Based on the inclusion criteria, 20 studies were eligible to be included in the review. The findings suggest that despite adolescents’ strong desire for comprehensive, evidence-based education on relationships and consent, the depth and content of the education provided varied by the provider type. Many educators and parents felt unprepared to address complex relationship and consent topics, resulting in inconsistent and often risk-focused education. The review indicated the need for more tailored resources, engaged learning methods, increased training and support for providers, and collaborative approaches between different providers. Future consent and relationships education could benefit from moving from a risk-based approach to focus on personal development and the promotion of sexual well-being for adolescents with intellectual disability. Full article

This case report is a reflection on the cumulative results of a number of research projects conducted in Iceland in the field of parenting with a disability. The underlying research consisted primarily of an analysis of court case documents and interviews with parents, extended family members and relevant professionals. The contribution that follows emerged out of a question that we posed to our overall research findings and experiences—what does justice look like for parents with ID who have to contend with deprivation of custody orders? In the rare instances in which a parent ultimately prevailed over an unjust deprivation order, this was only accomplished after an extensive fight through the court system, after which, a great deal of harm to the family had already been caused. We offer for consideration a close look at one such case that we followed, the aftereffects of which are still ongoing. The other path to success appears to be that of early intervention, but this typically occurs through happenstance and requires the involvement of a network of progressive professionals and fortuitous timing. Our contribution is a call to discuss what justice looks like and how this may be transformed into something more systematic. Full article

Background: MECP2 duplication syndrome (MDS) (MIM#300260) is a rare X-linked neurodevelopmental disorder. This study aims to (1) develop a specific clinical severity scale, (2) explore its correlation with clinical and molecular variables, and (3) automate diagnosis using the Face2gene platform. Methods: A retrospective study was conducted on genetically confirmed MDS patients who were evaluated at a pediatric hospital between 2012 and 2024. Epidemiological, clinical, and molecular data were collected. A standardized clinical questionnaire was collaboratively developed with input from physicians and parents. Patient photographs were used to train Face2Gene. Results: Thirty-five patients (0–24 years, 30 males) were included. Key features in males comprised intellectual disability (100%), hypotonia (93%), autism spectrum disorder (77%) and developmental regression (52%). Recurrent respiratory infections (79%), dysphagia (73%), constipation (73%) and gastroesophageal reflux (57%) were common. Seizures occurred in 53%, with 33% being treatment-refractory. The Face2Gene algorithm was successfully trained to identify MDS. A specific clinical severity scale (MECPDup) was developed and validated, correlating with the MBA (a scale developed for Rett syndrome). The MECPDup score was significantly higher in males (p < 0.001) and those with early death (p = 0.003). It showed significant positive correlations with age (p < 0.001) and duplication size (p = 0.044). Conclusions: This study expands the understanding of MDS through comprehensive clinical and molecular insights. The integration of AI-based facial recognition technology and the development of the MECPDup severity scale hold promise for enhancing diagnostic accuracy, monitoring disease progression, and evaluating treatment responses in individuals affected by MDS. Full article

This study describes two siblings from consanguineous parents who exhibit intellectual disability, microcephaly, photosensitivity, bilateral sensorineural hearing loss, numerous freckles, and other clinical features that suggest a potential disruption of the nucleotide excision repair (NER) pathway. Whole exome sequencing (WES) identified a novel homozygous missense variant in the ERCC4 gene, which was predicted to be pathogenic. However, a subsequent peculiar audiometric finding prompted further investigation, revealing a homozygous deletion in the OTOA gene linked to neurosensorial hearing loss. Both variants were located within a run of homozygosity (ROH) on chromosome 16p13.12-p12.2, implicating a complex genetic basis for the observed phenotype. While this study reports a potentially novel ERCC4 variant, it underscores the importance of comprehensive analysis and deep phenotyping in WES data to improve diagnostic accuracy. Our findings advocate for an expanded approach in WES analysis, ensuring more precise diagnoses and improved genetic counseling, particularly when specialized tests for structural variant analysis are unavailable. Full article

Parents and typically developing (TD) youth siblings of individuals with intellectual and/or developmental disabilities (IDD) often experience greater caregiving burden, stress, and hardships in family functioning. They are at increased risk of family conflict and youth adjustment problems when TD siblings are adolescents since they need to balance caregiving responsibilities and various changes that naturally occur during adolescence. However, there is a lack of intervention research on parents and TD adolescent siblings that focuses on family conflict and family-wide participation. This study analyzed whether participating in a brief family intervention could improve families’ knowledge of marital and family-wide conflict and TD adolescents’ adjustment problems. We found that mothers and fathers significantly improved their knowledge of marital conflict and that TD adolescents significantly improved their knowledge of family-wide conflict. We also found that fathers reported significant reductions in internalizing and externalizing problems in TD adolescents. The findings support the impact of even brief evidence-based interventions targeting family-level improvements for families with both TD adolescent siblings and individuals with IDD. The findings also accentuate the significance of involving both mothers and fathers in family intervention research, suggesting that different caregivers may experience both shared and unique benefits from participating. Full article

Background/Objectives: Autism Spectrum Disorder (ASD) is a lifelong neurodevelopmental condition characterized by social communication impairments and repetitive behaviors. Recent reports show that one in thirty-six 8-year-old children are autistic, signifying a considerable public health concern. According to previous studies, emotional dysregulation (ED) affects 50–60% of individuals with ASD and includes symptoms such as poor emotional control, heightened reactivity, and a low frustration tolerance. The main aims of the current study are to investigate the prevalence of ED among autistic preschoolers (below 6 years of age) and to assess the impacts of gender and intellectual disability on their emotional dysregulation profile. Methods: Data have been collected from three children’s research hospitals in Italy (IRCCS Stella Maris Foundation, Stella Maris Mediterraneo Foundation, and IRCCS Bambino Gesù). Parents of 825 autistic pre-schooled children (mean age: 39.68 months, SD: 10.51 months) completed a general questionnaire and the Child Behaviour Checklist (CBCL), a reliable caregiver-reported assessment tool which provides a dysregulation profile. Results: A total of 30% of the children displayed a severe-to-moderate ED (emotional dysregulation) profile, with these children exhibiting significantly higher emotional–behavioral problems compared to those without ED. Males with ED exhibited greater emotional reactivity than females with ED. However, no significant relationships were found between ED and age, autism severity (ADOS-2), or intellectual disability. Conclusions: The results underline the importance of early, tailored interventions to face emotional challenges in young children with ASD, potentially improving long-term outcomes for this population. Full article

Background: Mental illnesses are pervasive amongst children and adolescents with intellectual disabilities (ID), particularly anxiety disorders. To date, there has been limited research on the use of cognitive behavior therapy (CBT) as a potential treatment for this population. Fearless Me! © is an adapted CBT program specifically designed to treat anxiety in children and adolescents with mild to moderate ID. Method: Three children, aged between ten and sixteen, participated in group delivery of the Fearless Me! © program. Measures of anxiety were completed pre- and post-treatment by both the children and the parents. Results: For one child, a significant reduction in anxiety was observed, whilst another child showed significant improvement in emotional competence. Conclusions: This case series highlights the need for additional research into the utility of the adapted CBT program, Fearless Me! © to reduce anxiety in children and adolescents with ID. Full article

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. Full article

Parents of children With Special Needs and Disabilities (W-SND) who require long-term healthcare are at high risk of Parental Burnout (PB). However, most studies have focused on PB among parents of children Without Special Needs (WO-SN). This study aimed to develop a new model explaining PB of mothers of children W-SND/WO-SN. The main hypothesis was that the nexus of correlations between risk factors of PB (severity of child’s disability/challenge, perceived caregiver burden) and protective resources (social support, learned resourcefulness, deep emotion work) will explain the variance of PB of mothers of children W-SND and WO-SN. A questionnaire assessing PB, its risk factors, and protective resources was completed by 352 Israeli mothers of children W-SND (mean age 36.9) or WO-SN (mean age 32.3). The child’s disabilities were communicative, physical, intellectual and developmental. The main results are that mothers of children W-SND reported higher PB, higher caregiver burden, and a higher severity of disability. About 50% of PB variance was significantly explained by the nexus of correlations between selected risk and protective factors. Among all mothers, the more social support they received, the higher their learned-resourcefulness. However, learned resourcefulness mediates the correlation between caregiver burden and PB among mothers of children W-SND. Accordingly, it is important to increase awareness among healthcare professionals regarding the risk factors and symptoms of PB, and to develop workshops on protective resources in order to prevent PB and promote mothers’ well-being. Further research should be conducted among fathers and parents from diverse cultures. Full article

Many learners with mild intellectual developmental disorders (IDD) in mainstream primary schools in the Free State Province of South Africa require support to maximise their learning potential and prepare them for work post-school. In this study, a qualitative approach and Critical Disability Theory were used to explore the experiences of education stakeholders (teachers, parents, and principals) in how schools support the career development of learners with mild IDD in mainstream schools. There were 25 participants in this study, and data were collected through interviews, focus group discussions, and demographic questionnaires. The findings indicated that teachers were optimistic that learners with intellectual developmental disorders could thrive if identified early and provided with specialised support services. The findings also showed that teachers had low self-efficacy regarding their training on inclusive education practices and had limited knowledge about career development services. All the participants were optimistic that learners with mild IDD could participate in the labour market if they were taught work-related skills at an early age. It is recommended that stronger collaborative partnerships should be developed between stakeholders to promote inclusive support interventions, transform teaching approaches, and equip mainstream teachers with the required skills. Full article

Background: Neurodevelopmental disorders (NDDs) represent a significant challenge in pediatric genetics, often requiring advanced diagnostic tools for the accurate identification of genetic variants. Objectives: To determine the diagnostic yield of whole exome sequencing (WES) with targeted gene panels in children with neurodevelopmental disorders (NDDs). Methods: This observational, prospective study included a total of 176 Spanish-speaking pediatric patients with neurodevelopmental disorders (NDDs), encompassing intellectual disability (ID), global developmental delay (GDD), and/or autism spectrum disorder (ASD). Participants were recruited from January 2019 to January 2023 at a University Hospital in Madrid, Spain. Clinical and sociodemographic variables were recorded, along with genetic study results. The age range of the subjects was 9 months to 16 years, and the percentage of males was 72.1%. The diagnostic yield of whole exome sequencing (WES) was calculated both before and after parental testing via Sanger DNA sequencing. Results: The study included 176 children: 67 (38.1%) with ID, 62 (35.2%) with ASD, and 47 (26.7%) with ASD + ID. The diagnostic yield of proband-only exome sequencing was 12.5% (22/176). By group, the diagnostic yield of proband-only exome sequencing was 3.2% in the ASD, 12.7% in the ASD + ID, and 20.8% in the ID group. Variants of uncertain significance (VUS) were found in 39.8% (70/176). After parental testing, some variants were reclassified as “likely pathogenic”, increasing the diagnostic yield by 4.6%, with an overall diagnostic yield of 17.1%. Diagnostic yield was higher in patients with syndromic ID (70.6%% vs. 29.4%; p = 0.036). Conclusions: A sequential approach utilizing WES followed by panel-based analysis, starting with the index case and, when appropriate, including the parents, proves to be a cost-effective strategy. WES is particularly suitable for complex conditions, as it allows for the identification of potentially causative genes beyond those covered by targeted panels, providing a more comprehensive analysis. Including parental testing enhances the diagnostic yield and improves accuracy, especially in cases with variants of uncertain significance (VUS), thereby advancing our understanding of NDDs. Full article