BACKGROUND: People with intellectual and developmental disabilities (IDD) are at high risk for unmet health care needs and face barriers to equitable care, yet few health professions students receive adequate training to meet these needs.
OBJECTIVE: An interactive panel discussion with Special Olympics Pennsylvania (SOPA) athletes and staff was planned and implemented so that health professions students/trainees would gain knowledge of IDD, health barriers, SOPA resources, and volunteer opportunities.
METHODS: Panelists included two SOPA athletes and their mentors; questions solicited responses about personal health care experiences (Fall 2019). Attendees completed a mixed-methods post-event survey capturing event satisfaction, reflections, and interest in learning more about patients with IDD.
RESULTS: Sixty individuals attended, and 43 (72%) completed post-event evaluation. Attendees reported high satisfaction (88%), desire for future trainings (100%), and interest in learning about communicating (88%), providing care (88%), and addressing IDD health barriers (91%).
CONCLUSIONS: Collaborative community panels could be effective in engaging health care students in discussion about caring for patients with IDD.

OBJECTIVE: To explore the genetic basis for a child featuring global developmental delay and epilepsy.
METHODS: A child who had presented at Guangzhou Women and Children\'s Medical Center Liuzhou Hospital on February 19, 2023 was selected as the study subject. Clinical data of the child was collected. The child was subjected to whole exome sequencing, and candidate variant was validated by Sanger sequencing and bioinformatic analysis.
RESULTS: The child, an 8-month-old girl, had manifested with global developmental delay, epilepsy, and hyperlactacidemia. Cranial MRI revealed diverse hypomyelinating leukodystrophies. Electroencephalogram showed slow background activities. Genetic testing revealed that she has harbored a homozygous variant of the SLC25A12 gene, namely c.115T>G (p.Phe39Val), for which both of her parents were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be of uncertain significance (PM2_Supporting+PM3_Supporting+PP3_Moderate+PP4_Moderate). I-Mutant v3.0 software predicted that the variant may affect the stability of protein product.
CONCLUSIONS: The homozygous c.115T>G (p.Phe39Val) variant of the SLC25A12 gene probably underlay the pathogenesis of the disease in this child.

OBJECTIVE: To explore the clinical features and genetic basis for a child with Intellectual developmental disorder (IDD) and epilepsy.
METHODS: A child who was admitted to the Children\'s Medical Center of the Affiliated Hospital of Guangdong Medical University in February 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.
RESULTS: The patient, a 3-month-and-27-day female infant, had developed the symptoms in the neonatal period, which included severe developmental delay, respiratory difficulties and pauses, increased muscle tone of four limbs, feeding difficulty, and seizures. Cerebral MRI revealed bilateral cerebellar hypoplasia, and video EEG showed slightly increased sharp waves emanating predominantly from the right parietal, occipital, and posterior temporal regions. WES revealed that she has harbored a missense c.3196G>A (p.Glu1066Lys) variant of the CLTC gene, which was confirmed to be de novo by Sanger sequencing. Based on the guideline from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PS2+PM2_Supporting+PP3).
CONCLUSIONS: The c.3196G>A (p.Glu1066Lys) missense variant of the CLTC gene probably underlay the pathogenesis in this child. Above finding has facilitated her diagnosis and treatment.

OBJECTIVE: To retrospectively evaluate the comparative effect of two wheelchair seating systems, Custom-Contoured Wheelchair Seating (CCS) and Modular Wheelchair Seating (MWS), on scoliosis progression in children with neuromuscular and neurological disorders and to determine any predictors for scoliosis progression.
METHODS: Longitudinal, retrospective cohort study SETTING: National Health Service regional posture and mobility service PARTICIPANTS: Non-ambulant paediatric wheelchair users with neuromuscular and neurological disorders (N = 75; 36 male, 39 female; mean age at seating intervention, 10.50 ± 3.97 years) issued CCS and MWS by the South Wales Posture and Mobility Service from 2012 to 2022.
METHODS: Two specialized wheelchair seating systems, CCS and MWS.
METHODS: A generalized least squares (GLS) model was used to estimate the effect of seat type on Cobb angle over time.
RESULTS: Of the 75 participants enrolled, 51% had cerebral palsy. Fifty were issued CCS and 25 were issued MWS. Baseline Cobb angle was 32.9±18.9° for the MWS group and 48.0±31.0° for the CCS group. The GLS model demonstrated that time since seating intervention (χ2 = 122, p < .0001), seating type (χ2 = 52.5, p < .0001), and baseline scoliosis severity (χ2 = 41.6, p < .0001) were predictive of scoliosis progression. Condition was not a strong predictor (χ2 = 9.96, p = .0069), and sex (χ2 = 5.67, p = .13) and age at intervention (χ2 = 4.47, p = .35) were not predictive. Estimated contrasts of medical condition with seat type over time demonstrated smaller differences between MWS and CCS over time. Predicted scoliosis velocity was found to attenuate with use of CCS over time compared to MWS, although, scoliosis deteriorated regardless of intervention.
CONCLUSIONS: Our findings showed paediatric wheelchair users with neurological and neuromuscular disorders prescribed CCS showed greater mitigation of scoliosis progression over time compared to those issued MWS.

BACKGROUND: Previous research identifies organisational culture as one of a number of factors associated with the quality of life outcomes of group home residents\' with intellectual and developmental disabilities. This study aims to elaborate on the dimensions of group home culture in settings in England.
METHODS: Participant observations and semi-structured interviews with staff were carried out in two group homes. Field-notes, interview notes and transcripts were analysed using inductive thematic analysis by a researcher naïve to the project and the previous literature. Initial coding was re-examined after sensitisation to theorised models in previous literature to identify the most parsimonious fit. The two settings were rated and compared using a five-point Likert scale for each of the dimensions.
RESULTS: The findings describe group home culture across seven dimensions. There were mixed ratings across the different dimensions reflecting inconsistencies in culture that were reflected in staff practice. The challenge in assigning a global rating of culture in group homes, which includes interactions across multiple staff and multiple residents over time, was highlighted.
CONCLUSIONS: The development of an observational measure of culture is highlighted as potentially helpful in understanding and responding to culture in services for individuals with intellectual and developmental disabilities.

Preschoolers with disabilities and their caregivers have been neglected in health and social service provision in most low-income countries and arguably also in low-resourced areas of more affluent nations. Yet as this rapid review of the published literature identifies, there are low-cost, evidence-based strategies to address their needs that can be implemented in communities by local people. Five key features of the necessary supports are examined. First, the leadership functions required to create and implement the support services. Second, the family-centred, home-based support provided to caregivers and the personnel undertaking this form of support. Third, providing opportunities for peer support to flourish and encouraging the formation of advocacy groups across families. Fourth, mobilizing the support of significant groups within the community: notably, traditional healers and leaders, health services and poverty alleviation initiatives. Fifth, devising ways in which preschool educational opportunities can be offered to children as a prelude to their inclusion in primary schools. The review serves a further purpose. It provides an example of how public health researchers and academics could achieve more rapid implementation of evidence-based knowledge into existing and new support services through dissemination to community practitioners.

While balanced reciprocal translocations are relatively common, they often remain clinically silent unless they lead to the disruption of functional genes. In this study, we present the case of a boy exhibiting developmental delay and mild intellectual disability. Initial karyotyping revealed a translocation t(5;6)(q13;q23) between chromosomes 5 and 6 with limited resolution. Optical genome mapping (OGM) enabled a more precise depiction of the breakpoint regions involved in the reciprocal translocation. While the breakpoint region on chromosome 6 did not encompass any known gene, OGM revealed the disruption of the RASGRF2 (Ras protein-specific guanine nucleotide releasing factor 2) gene on chromosome 5, implicating RASGRF2 as a potential candidate gene contributing to the observed developmental delay in the patient. Variations in RASGRF2 have so far not been reported in developmental delay, but research on the RASGRF2 gene underscores its significance in various aspects of neurodevelopment, including synaptic plasticity, signaling pathways, and behavioral responses. This study highlights the utility of OGM in identifying breakpoint regions, providing possible insights into the understanding of neurodevelopmental disorders. It also helps affected individuals in gaining more knowledge about potential causes of their conditions.

This study delves into the diagnostic yield of whole-exome sequencing (WES) in pediatric patients presenting with developmental delay/intellectual disability (DD/ID), while also exploring the utility of Reverse Phenotyping (RP) in refining diagnoses. A cohort of 100 pediatric patients underwent WES, yielding a diagnosis in 66% of cases. Notably, RP played a significant role in cases with negative prior genetic testing, underscoring its significance in complex diagnostic scenarios. The study revealed a spectrum of genetic conditions contributing to DD/ID, illustrating the heterogeneity of etiological factors. Despite challenges, WES demonstrated effectiveness, particularly in cases with metabolic abnormalities. Reverse phenotyping was indicated in half of the patients with positive WES findings. Neural network models exhibited moderate-to-exceptional predictive abilities for aiding in patient selection for WES and RP. These findings emphasize the importance of employing comprehensive genetic approaches and RP in unraveling the genetic underpinnings of DD/ID, thereby facilitating personalized management and genetic counseling for affected individuals and families. This research contributes insights into the genetic landscape of DD/ID, enhancing our understanding and guiding clinical practice in this particular field of clinical genetics.

Genetic counseling and treatment options for rare developmental disabilities (DDs) have been revolutionized by the opportunities made possible by using massively parallel sequencing for diagnostic purposes [...].

To date, only 13 studies have described patients with large overlapping deletions of 10p11.2-p12. These individuals shared a common phenotype characterized by intellectual disability, developmental delay, distinct facial dysmorphic features, abnormal behaviour, visual impairment, cardiac malformation, and cryptorchidism in males. Molecular cytogenetic analysis revealed that the deletion in this chromosomal region shares a common smallest region of overlap (SRO) of 80 kb, which contains only the WAC gene (WW-domain-containing adaptor with coiled coil). In this clinical case report, we report a 5-year-old girl, born from non-consanguineous parents, with a 10p11.22p11.21 microdeletion. She presents clinical features that overlap with other patients described in the literature, such as dysmorphic traits, speech delay, and behavioural abnormalities (hyperactivity), even though the WAC gene is not involved in the microdeletion. Our results are the first to highlight that the deletion described here represents a contiguous gene syndrome that is enough to explain the distinct phenotype but partially overlaps with the previous cases reported in the literature, even though the same genes are not involved. In particular, in this study, we speculate about the role of the WAC gene that seems to be associated with normal motor development. In fact, we found that our patient is the only one described in the literature with a large deletion in the 10p11.22p11.21 region without the involvement of the WAC gene deletion, and, interestingly, the patient did not have motor delay.