Developmental Disabilities Research Articles

Oral health status of children with intellectual and developmental disabilities in India: a systematic review and meta-analysis

Oral health status of children with intellectual and developmental disabilities in India: a systematic review and meta-analysis

Comparison of the Effectiveness of Online and Face-to-Face Parent Training for Parents of Children With Developmental Disabilities

Comparison of the Effectiveness of Online and Face-to-Face Parent Training for Parents of Children With Developmental Disabilities

Association of whole blood essential metals with neurodevelopment among preschool children.

Essential metals may play roles in neurodevelopment. The aim was to evaluate the associations of magnesium (Mg), iron (Fe), copper (Cu), and zinc (Zn) levels with neurodevelopment among preschool children. The medical records of eligible children enrolled between January 2019 and July 2022 were retrospectively reviewed for required information. The quantitative measurement of metals was conducted using atomic absorption spectroscopy, while screening of neurodevelopment was performed using the Ages and Stages Questionnaire. Modified Poisson regression and Bayesian kernel machine regression (BKMR) analyses were used to evaluate the prevalence ratio (PR) of their independent and joint associations. 662 (14.8%) children were found to have possible neurodevelopmental delays. Modified Poisson regression showed that Mg, Cu, and Zn levels were independently and negatively associated with the risk of neurodevelopmental delay. The PRs (95% CIs) for per log2 increment of the above metals were 0.35 (0.19-0.62), 0.57 (0.42-0.77), and 0.63 (0.42-0.96). These negative associations were more pronounced in the gross motor and personal-social domains while considering the concrete five domains. BKMR showed a negative association of metal mixture with the risk of neurodevelopmental delay. Mg, Cu, and Zn were inversely associated with neurodevelopmental delay. Sufficient essential metal levels are important for neurodevelopment. Essential metals play a key role in neurodevelopment. The association of essential metal mixture with neurodevelopment is relatively scarce. Preschool children with possible neurodevelopmental delay are found to have lower Mg, Cu, and Zn levels than their counterparts. Single Mg, Cu, Zn levels, and elevated essential metal mixture are negatively associated with the risk of possible neurodevelopmental delay.

Exploring the Strengths and Resilience of Siblings of People With Intellectual and Developmental Disabilities.

Siblings play a crucial role in shaping and guiding the experiences of their brother or sister with a disability across the lifespan. However, little is known about the positive outcomes of their roles and experiences as siblings. Understanding the positive outcomes challenges stereotypes and the stigma associated with disabilities and allows for a more holistic view of sibling experiences. We conducted a survey with 140 adult siblings of people with disabilities to explore their strengths, resilience and community belonging. We found that siblings highly rated their perceived strengths across various domains. Furthermore, siblings maintained high levels of resilience and most belonged to various organisations for social support. We also noted several strengths-based factors that predicted siblings' resilience. Our findings offer significant insights into siblings' inherent and developed strengths and the role of community networks in promoting sibling resilience and expanding their support systems.

Caregiver-Implemented Interventions to Improve Daily Living Skills for Individuals With Developmental Disabilities: A Systematic Review.

Many individuals with intellectual and developmental disabilities (DD) encounter difficulties in performing daily living skills, which limits their self-sufficiency and autonomy. Caregivers, such as parents, are often the individuals who interact with individuals with DD the most during daily living skills routines. Therefore, it is critical to teach caregivers to implement daily living skills interventions with their children. A systematic review of the literature related to caregiver-implemented daily living skills interventions yielded 38 articles. Of those, 20 articles, with 21 experiments, were rated as high quality based on What Works Clearinghouse design standards. Behavior skill training was the most common strategy used to teach caregivers to implement interventions. Common daily living skills interventions included prompting, reinforcement, and task analysis. The most common form of prompting was verbal prompting, and the most common schedule of reinforcement was a continuous schedule of reinforcement. Of the 21 high-quality experiments, 86% demonstrated caregiver-implemented interventions yielded improvements in daily living skills. Several studies demonstrated generalization and maintenance of daily living skills. Implications for research and practice are discussed.

Contraceptive digital pills and sexual and reproductive healthcare of women with mental disabilities: Problem or solution?

For years, the sexual and reproductive health of women with intellectual and developmental disability or disabilities has been insufficiently addressed by institutions and family members due to a lack of information, training, and, sometimes, religious issues. In this context, contraceptive digital pills can enhance the sexual and reproductive control of this population group. Digital pills could help to improve adherence to treatments aimed to prevent unwanted pregnancies, as well as allowing women and their caregivers to exert better drug intake control. However, there are some ethical risks to consider that may outweigh these benefits. This study sets out to explore the ethical considerations that should be taken into account in the case of a potential roll-out of contraceptive digital pills as a way of improving the sexual and reproductive health of these women.

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.

#stayathome?: Increased children’s emotion regulation in covid-19 pandemic

Emotion Regulation is an important resource over children development, especially when facing adversities. The arrival of Convid-19 pandemic has resulted in procedures as quarantine and social distancing, which may cause mental health status challenges for children. The aim of this study was to compare parents’ perception on their children’s emotional regulation before and during quarantine. The results showed positive correlation between Covid’s behavioral and cognitive variables, as risk perception, virus exposure, preventive care, social distancing and Covid-19 knowledge with emotion regulation. Unexpectedly there was an increment on children’s emotion regulation during quarantine period perceived by their parents. This data can provide clues regarding the emotion development, the route of how mental health preventive measures should go, prioritizing parents support and psychoeducation.

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.

Content Validity of Teacher's Evaluation of Neurodevelopmental Delays (TEDD) Tool for Indian Preschoolers.

Early detection of developmental delays in children can significantly help them realise their full potential. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V), is the system in use at the moment to detect neurodevelopmental delays among children in the United States and other Western nations. However, due to cultural differences, there is a pertinent need for a content-validated module in the context of low- and middle-income countries, including India. The aim of this study was to develop and validate Teacher's Evaluation of Neurodevelopmental Delays (TEDD) tool based on the criterions and definitions of neurodevelopmental disorders as mentioned in DSM-V and then synced with developmental milestones mentioned in International Classification of Diseases, 10th revision (ICD-10) and Early Childhood Care and Education (ECCE)/ New York City Early Education Centre (NYCE) framework, and items were worded in behavioural terms. We did a thorough review of the literature for the development of TEDD tool and used modified Delphi technique to content validate it. Data from nine experts, such as doctors, clinical psychologists, special educators, speech and language and applied behaviour analysis therapist were used for the analysis. Analysis resulted into 28 items being retained which can be applied in the Indian context. This study has shown good content validity of the TEDD tool. Future studies are being planned to rule the feasibility and reliability of this tool.

Role of home nurturing environment on early childhood neurodevelopment: a community-based survey in Shanghai, China.

Ages of 0-3 years are critical stages for children's neurodevelopment. However, the impact of the home nurturing environment on early childhood neurodevelopment remains unclear. To explore the role of the home nurturing environment on early childhood neurodevelopment and to provide evidence of an association between fostering quality home nurturing and achieving optimal neurodevelopment. An online cross-sectional survey using the stratified sampling method was conducted from 16 June, 2021 to 18, February, 2022 in all 13 communities of Minhang District, Shanghai. A total of 2,402 children aged 0-3 years with balanced sex distribution were included. The quality of home nurturing environments was measured using validated Child Home Nurture Environment Scales. Neurodevelopment was measured using the Ages and Stages Questionnaire - Third edition (ASQ-3). Generalized Linear Mixed Modeling was used to analyze the association between the quality of home nurturing environments and neurodevelopment. Among children aged 0-1, neglect or restriction was reported as the most prevalent problem (8.02%) among home nurturing environment dimensions, and was associated with an increased risk of suspected fine motor development delay (OR = 2.82, 95% CI: 1.18-6.69, P = 0.019). Among children aged 1-3, inadequate parental warmth, as the foremost (16.10%) problem, was associated with an increased risk of suspected gross motor development delay (OR = 4.12, 95% CI: 1.35-12.53, P = 0.013) and suspected personal-social development delay (OR = 12.50, 95%CI: 1.48-105.36, P = 0.020). Poor home nurturing environments were associated with an increased risk of suspected early childhood neurodevelopment delay. There exists a need for services to guide for establishing a quality home nurturing environment.

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.

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.

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.

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.

“It’s a Circus”: Family Caregivers’ Perceptions on Accessing Mental Health Care for Individuals with Intellectual and Developmental Disabilities

ABSTRACT Background Previous research has demonstrated that individuals with intellectual and developmental disabilities (IDD) experience a variety of barriers in accessing mental health care and that family caregivers often play an integral role in helping individuals with IDD navigate these systems. However, little research has focused on family caregivers’ perceptions of accessing mental health services. Methods To better understand their perspectives, we analyzed responses to an open-ended question about challenges to accessing mental health resources for adults with IDD from 208 family caregivers. Responses were analyzed using a team-based approach to qualitative data analysis. Results We identified five themes that capture both systematic issues and personal or interpersonal challenges that reduce access to high quality mental health care among adults with IDD. In addition to the barriers, we also identified some accounts of families succeeding in accessing adequate mental health care. Conclusions We offer practical implications for research, policy, and practice that can help reduce barriers to mental health care for adults with IDD.

Genetic analysis of a pedigree affected with Intellectual disability due to variants of two different genes

To explore the genetic etiology of a pedigree with intellectual disability and explore its pathogenesis. A Chinese pedigree which had presented at the Henan Provincial People's Hospital in March 2023 was selected as the study subject. Clinical data of the pedigree were collected, along with peripheral venous blood samples from its members. Whole exome sequencing (WES) was carried out, and candidate variants were verified by Sanger sequencing. Amniotic fluid was collected for prenatal diagnosis. This study was approved by the Medical Ethics Committee of the Henan Provincial People's Hospital (Ethics No. 2019-134). Both the proband (a 6-year-old male) and his mother (30 years old) had various degrees of intellectual and motor impairment. WES revealed that the proband has harbored a de novo heterozygous c.2563_2567dup (p.Lys856fs) variant of the UBE3A gene, while his mother, maternal grandmother and fetus had all harbored a novel heterozygous c.409+1G>A variant of the RNF13 gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be pathogenic (PVS1+PS1+PM2_Supporting; PVS1+PM2_Supporting+PP3). Based on the clinical manifestations and the result of genetic testing, the heterozygous c.2563_2567dup (p.Lys856fs) variant of the UBE3A gene probably underlay the intellectual disability and developmental delay in the proband, whilst the heterozygous c.409+1G>A variant of the RNF13 gene may underlie the intellectual disability in the proband's mother and grandmother. Above results have enabled genetic counseling and prenatal diagnosis for this pedigree.

Factors associated with the use of regional anesthesia for calcaneal osteotomy in pediatric patients: A single-center, retrospective cohort study.

Despite known disparities in pediatric perioperative outcomes, few studies have examined factors associated with the use of regional anesthesia for pediatric orthopedic surgery. This investigation aimed to determine if minority and developmental disability status were associated with the allocation of peripheral nerve blocks in calcaneal osteotomy. We conducted a single-center, retrospective study of records of patients <18 years who underwent calcaneal osteotomy from 2013 to 2022. Regional technique was classified into three groups: popliteal-sciatic single-shot block, popliteal-sciatic catheter, and no block. Patients were classified as either nonminority (white, non-Hispanic) or minority. Developmental disability status was defined based on medical history and classified as binary. Anesthesiologists were classified as "regional" or "nonregional" based on clinical expertise. A Bayesian hierarchical multinomial model with random intercepts for patients and surgeons was used to investigate the association of minority status, developmental disability, and anesthesiologist expertise with block selection. We analyzed 287 cases in 225 patients; of these, 55% occurred in minority patients and 28% occurred in patients with developmental disability. Catheters were placed in 45% of cases, single shot blocks in 41%, and no block in 14%. Minority and nonminority patients had a similar likelihood of receiving of any block. Patients with developmental disability had a -22% absolute difference of receiving any block (95% credible interval [-38%, -7%]) compared to those without developmental disability (55% vs. 77%), an effect primarily driven by a lower rate of catheter placement in these children. Regional anesthesiologists were more likely to place catheters (23% absolute increase; 36% vs. 13%) and more likely to perform any block in children with developmental disability (30% absolute increase; 67% vs. 37%) than nonregional anesthesiologists. Decision-making surrounding the placement of regional anesthesia techniques is complex. In this study, developmental disability status and anesthesiologist experience were associated with a difference in the use of regional anesthesia in patients undergoing calcaneal osteotomy.

Time perception and delay discounting in the FMR1 knockout rat.

There is substantial evidence for timing (time perception) abnormalities related to developmental disabilities, particularly autism spectrum disorder. These findings have been reported in humans and nonhuman preclinical models. Our research objective was to extend that work to a genetic knockout (KO) model of fragile X/developmental disability, the FMR1KO rat. We also sought to test delay discounting in the model and assess potential relations between timing and choice behavior. Consistent with previous human and nonhuman work, we found reduced timing precision in the FMR1 KO rats. We also discovered significantly increased smaller, sooner reward choice in the FMR1 KO rats. Performance on the timing task appeared to be unrelated to performance on the choice task for both model and control rats. These results add to what has become increasingly clear: timing is disrupted in humans diagnosed with developmental disabilities and in nonhuman models designed to model developmental disabilities. Our findings are consistent with those of previous work and the first to our knowledge to show such effects in the FMR1 KO rat. We discuss the potential clinical implications and future directions surrounding potential "timing interventions" for individuals diagnosed with developmental disabilities.

A deep learning model for prediction of autism status using whole-exome sequencing data.

Autism is a developmental disability. Research demonstrated that children with autism benefit from early diagnosis and early intervention. Genetic factors are considered major contributors to the development of autism. Machine learning (ML), including deep learning (DL), has been evaluated in phenotype prediction, but this method has been limited in its application to autism. We developed a DL model, the Separate Translated Autism Research Neural Network (STAR-NN) model to predict autism status. The model was trained and tested using whole exome sequencing data from 43,203 individuals (16,809 individuals with autism and 26,394 non-autistic controls). Polygenic scores from common variants and the aggregated count of rare variants on genes were used as input. In STAR-NN, protein truncating variants, possibly damaging missense variants and mild effect missense variants on the same gene were separated at the input level and merged to one gene node. In this way, rare variants with different level of pathogenic effects were treated separately. We further validated the performance of STAR-NN using an independent dataset, including 13,827 individuals with autism and 14,052 non-autistic controls. STAR-NN achieved a modest ROC-AUC of 0.7319 on the testing dataset and 0.7302 on the independent dataset. STAR-NN outperformed other traditional ML models. Gene Ontology analysis on the selected gene features showed an enrichment for potentially informative pathways including potassium ion transport.