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.

The objective of this review was to explore parents\' experiences and information needs regarding management of their child with an intellectual and/or developmental disability (IDD) in the emergency department (ED). We searched six electronic databases and grey literature to identify primary studies in English published since 2000. We synthesized quantitative and qualitative outcome data simultaneously using a convergent integrated approach and used a Mixed Methods Appraisal Tool (MMAT) to assess methodological quality of the included studies. Nine articles derived from seven studies were included (3 qualitative, 3 quantitative, 1 mixed method). Four main themes related to parents\' self-reported experiences were identified: 1) appropriateness of the ED to manage and support their child; 2) acknowledgement/recognition of their child\'s IDD and incorporation of those considerations into overall care and management; 3) managing and navigating the ED environment; and 4) decision to disclose their child\'s condition when visiting the ED. Two articles provided data relevant to information needs, highlighting parents\' desire to have resources supporting ED orientation and access to services within and outside of the ED setting. From the limited number of studies, it was evident that parents wanted better communication with healthcare providers and a greater understanding by ED staff around physical space settings needed to support their child. Resources supporting ED staff and parents to communicate effectively and work together can ensure that children with IDDs care needs are met. Further research into understanding parents\' experiences and information needs related to managing a child with an IDD in the ED is needed to guide the development of effective resources.

BACKGROUND: Providing menstrual education and guidance for menstrual management for girls and young women with intellectual disabilities is recommended to ensure smooth pubertal transitions and to support menstrual self-agency.
METHODS: The purpose of this systematic review is to explore menstrual education interventions for girls and young women with intellectual disabilities.
RESULTS: Nine studies were included. Interventions were provided in small groups (n = 4) and individually (n = 5). Most studies used dolls (n = 7) and task analysis (n = 7) to teach pad-replacement skills. All reported significant improvements in participant skills and/or knowledge following the intervention. Only one study addressed self-agency and self-esteem as an outcome of the intervention. Menstrual education for girls and young women with intellectual disabilities is largely focused on pad-replacement skills.
CONCLUSIONS: Further research is needed to understand the impact of menstrual health and hygiene education on variables apart from skill improvement such as self-agency and long-term health outcomes related to menstrual health.

The NR4A2 gene encodes an orphan transcription factor of the steroid-thyroid hormone-retinoid receptor superfamily. This review focuses on the clinical findings associated with the pathogenic variants so far reported, including three unreported cases. Also, its role in neurodegenerative diseases, such as Parkinson\'s or Alzheimer\'s disease, is examined, as well as a brief exploration on recent proposals to develop novel therapies for these neurological diseases based on small molecules that could modulate NR4A2 transcriptional activity. The main characteristic shared by all patients is mild to severe developmental delay/intellectual disability. Moderate to severe disorder of the expressive and receptive language is present in at least 42%, while neuro-psychiatric issues were reported in 53% of patients. Movement disorders, including dystonia, chorea or ataxia, are described in 37% patients, although probably underestimated because of its frequent onset in late adolescence-young adulthood. Finally, epilepsy was surprisingly present in 42% of patients, being drug-resistant in three of them. The age at onset varied widely, from five months to twenty-six years, as did the classification of epilepsy, which ranged from focal epilepsy to infantile spasms or Lennox-Gastaut syndrome. Accordingly, we propose that NR4A2 should be considered as a first-tier target gene for the genetic diagnosis of developmental and epileptic encephalopathy.

OBJECTIVE: There is a paucity in research supporting procedures to teach skills needed during an individual\'s menstrual cycle. The purpose of this study was two-fold. First, a literature review was conducted to find publications on the topic of menstrual care. Second, the studies found were evaluated against What Works Clearinghouse™ (WWC) standards and analyzed to determine the presence of clinical components relevant to teaching these skills.
METHODS: A literature review was conducted according to PRISMA guidelines. The review identified publications that taught menstrual care skills to individuals diagnosed with autism spectrum disorder (ASD) or other disabilities. The review focused specifically on studies that employed single-subject research methodology. Studies found were analyzed against the WWC\'s criteria to assess the rigor of each studies\' methodology. Finally, studies were categorized across indicators that are clinically relevant to teaching menstrual care skills.
RESULTS: The results highlighted a lack of empirical support for teaching menstrual care skills. 7 single-subject design studies were identified in the previous 40 years of research. One study met all criteria required to receive the WWC\'s highest rating.
CONCLUSIONS: The complexity and private nature of menstrual care skills can make intervention development daunting. This paper was intended to provide menstrual care researchers with guidance in implementing high-quality studies. Additionally, scientist-practitioners can find guidance regarding important considerations to support programming that is both effective and respectful.

BACKGROUND: Adult day services (ADS) are therapeutic, social, and health-related activities that keep people in their homes, rather than institutional settings. While there is a growing body of literature on ADS for older adults, there is far less information available about ADS for younger adults with intellectual and/or developmental disabilities (IDDs).
METHODS: Researchers conducted a scoping review of 6 databases (892 total articles).
RESULTS: After applying inclusion and exclusion criteria, 74 full articles were reviewed, with 10 articles meeting study requirements. The research team found the literature is limited to simple descriptive reports or interventions that use ADS as a platform.
CONCLUSIONS: Simply put, we know very little about the services provided to younger adults with IDD in ADS. Implications for future research are discussed, including the need to catalog the services offered in ADS for younger adults with IDD and to evaluate their impact on participant well-being.

BACKGROUND: The majority of children with neurodevelopmental disorders (NDDs) reside in low- and middle-income countries (LMICs). NDDs are a public health concern in countries in sub-Saharan Africa (SSA). Nurturing care has been recommended as a pathway for addressing the developmental needs and unlocking the full potential of children, including those with NDDs. However, little information exists on the strategies to support children with NDDs using the Nurturing Care Framework in many countries in SSA. This review aims to synthesize information on nurturing care practices for children with NDDs in SSA. The review will also determine gaps in the provision of nurturing care for children with NDDs. Further, the review will highlight the drivers of care as well as the experiences of the caregivers.
METHODS: The review will be implemented in six steps: specification of the research question, identification of relevant studies, selection of studies to be included, extracting, mapping, and charting the data, collating, summarizing, and reporting the results, and stakeholder consultation. We propose a database search followed by a manual search for the literature synthesis. We will search the following electronic databases: PubMed, ScienceDirect, Scopus, Open Grey and African Journals Online (AJOL). All studies published after May 2018 to May 2023 that include relevant terms will be identified and included. The research team will develop a data extraction form for use in capturing relevant information from each of the included studies. A patterning chart that will summarize and analyze the key findings of each article will be created.
CONCLUSIONS: We anticipate that the study will provide evidence on the existing nurturing care practices and unearth gaps in the provision of nurturing care for children with NDDs. Key determinants of care and the experiences of the parents/caregivers of children will also be identified. The study will provide key recommendations on interventions to improve the quality of care for children with NDDs. Through this study, awareness of the unmet nurturing care needs of these children will be increased. The evidence generated may assist policymakers and stakeholders in addressing the needs of children with NDDs.

ALG13-Congenital Disorder of Glycosylation (CDG), is a rare X-linked CDG caused by pathogenic variants in ALG13 (OMIM 300776) that affects the N-linked glycosylation pathway. Affected individuals present with a predominantly neurological manifestation during infancy. Epileptic spasms are a common presenting symptom of ALG13-CDG. Other common phenotypes include developmental delay, seizures, intellectual disability, microcephaly, and hypotonia. Current management of ALG13-CDG is targeted to address patients\' symptoms. To date, less than 100 individuals have been reported with ALG13-CDG. In this article, an international group of experts in CDG reviewed all reported individuals affected with ALG13-CDG and suggested diagnostic and management guidelines for ALG13-CDG. The guidelines are based on the best available data and expert opinion. Neurological symptoms dominate the phenotype of ALG13-CDG where epileptic spasm is confirmed to be the most common presenting symptom of ALG13-CDG in association with hypotonia and developmental delay. We propose that ACTH/prednisolone treatment should be trialed first, followed by vigabatrin, however ketogenic diet has been shown to have promising results in ALG13-CDG. In order to optimize medical management, we also suggest early cardiac, gastrointestinal, skeletal, and behavioral assessments in affected patients.

BACKGROUND: Access to appropriate healthcare is essential for children\'s healthy development. This is lacking in rural and remote areas, impacting health outcomes. Despite efforts to improve access for these communities, to date, no review has systematically mapped the literature on allied health models of care for children with developmental needs. This scoping review seeks to address this knowledge gap.
METHODS: Adhering to the PRISMA-ScR and Joanna Briggs Institute guidelines, a systematic search was conducted. A total of 8 databases (from inception to May 2023) and 106 grey literature sources were searched. Two reviewers independently undertook a two-stage screening process. Data were extracted using customised tools and narratively synthesised utilising the Institute of Medicine\'s quality domains. This review is registered a priori via Open Science Framework.
RESULTS: Twenty-five citations were identified within the literature. Varied models of care were reported from five mostly Western countries. Models of care identified in these areas were classified as screening services, role substitution, consultative services, or online-based services. Positive impacts on quality of healthcare were reported across all quality domains (apart from safety) with the domain of effectiveness being the most commonly reported.
CONCLUSIONS: Multiple models of care are currently in operation for children with developmental needs in rural and remote areas and appear to improve the quality of care. Due to complexities within, and limitations of, the evidence base, it is unclear if one model of care is superior to another. This review provides a basis for further research to explore why some models may be more effective than others.

Developmental delay is a public health problem in low- and middle-income countries. However, there is no summarized evidence in low- and middle-income countries on developmental delay, and primary studies on this issue show varied and inconclusive results. This systematic review and meta-analysis aimed to assess the pooled magnitude of confirmed developmental delay and its determinants among children in low- and middle-income countries.
We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines to write this systematic review and meta-analysis. Primary studies were searched from PubMed, PsycINFO, Hinari, Science Direct, African Journal of Online, Web of Science, and Google Scholar databases. The Newcastle-Ottawa Scale, adapted for the cross-sectional studies, was used to assess the quality of the included studies. Heterogeneity and publication bias were assessed by the I2 and Eggers tests, respectively. Due to the high heterogeneity, the random effects model was used for analysis. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to show the association between developmental delay and its determinants.
The pooled prevalence of confirmed developmental delay was 18.83, 95% CI (15.53-22.12). In the subgroup analysis, a high prevalence of developmental delay [26.69% (95% CI, 15.78-37.60)] was observed in studies performed in Africa. Maternal education [3.04; 95% CI (2.05, 4.52)] and low birth weight [3.61; 95% CI (1.72, 7.57)] were significant determinants of developmental delay.
The pooled prevalence of developmental delay in low- and middle-income countries was high as compared to that in high-income countries. Maternal education level and weight at birth were significantly associated with developmental delays. Therefore, strategies should be designed to decrease the rate of low birth weight and the number of illiterate mothers living in low- and middle-income countries.
PROSPERO, CRD42024513060.