Objective: Genetic variants cause a significant portion of developmental disorders and intellectual disabilities (DD/ID), but clinical and genetic heterogeneity makes identification challenging. Compounding the issue is a lack of ethnic diversity in studies into the genetic aetiology of DD/ID, with a dearth of data from Africa. This systematic review aimed to comprehensively describe the current knowledge from the African continent on this topic. Method: Applicable literature published up until July 2021 was retrieved from PubMed, Scopus and Web of Science databases, following PRISMA guidelines, focusing on original research reports on DD/ID where African patients were the focus of the study. The quality of the dataset was assessed using appraisal tools from the Joanna Briggs Institute, whereafter metadata was extracted for analysis. Results: A total of 3,803 publications were extracted and screened. After duplicate removal, title, abstract and full paper screening, 287 publications were deemed appropriate for inclusion. Of the papers analysed, a large disparity was seen between work emanating from North Africa compared to sub-Saharan Africa, with North Africa dominating the publications. Representation of African scientists on publications was poorly balanced, with most research being led by international researchers. There are very few systematic cohort studies, particularly using newer technologies, such as chromosomal microarray and next-generation sequencing. Most of the reports on new technology data were generated outside Africa. Conclusion: This review highlights how the molecular epidemiology of DD/ID in Africa is hampered by significant knowledge gaps. Efforts are needed to produce systematically obtained high quality data that can be used to inform appropriate strategies to implement genomic medicine for DD/ID on the African continent, and to successfully bridge healthcare inequalities.

Sufficient vitamin D levels are necessary, not only for mineralization, normal growth and development of bones, but also for the prevention of fatal chronic diseases like diabetes mellitus, metabolic syndrome and cancer. This is of particular importance in children with neuro- and musculoskeletal disorders, especially cerebral palsy (CP). CP is a heterogeneous group of childhood developmental disability disorders described by uncharacteristic posture, balance, and movement. Patients with CP are at an increased risk of vitamin D deficiency and as a result reduced bone mineral density, bone fragility, osteopenia, and rickets. The present review aims to combine and summarize available evidence, regarding the epidemiology, underlying contributing factors, clinical consequences, and treatment interventions of vitamin D deficiency in children with CP.

Cognitive bias modification (CBM) is increasingly used to target cognitive biases related to internalising or externalising problems, which are common in neurodevelopmental disorders (NDD). This systematic review assesses the available evidence for using CBM in children and young people with NDD, in particular regarding ambiguous interpersonal information, and the extent of their exclusion from this type of intervention research. PsycINFO, PsycARTICLES, MEDLINE, Cochrane Central Register of Controlled Trials and Science Citation Index were consulted using MeSH terms and synonyms of \"neurodevelopmental disorders\", \"mental health problems\", \"cognitive bias\", \"modification\" and \"review\". Data extraction focused on the efficacy of CBM for NDD, how CBM was delivered, whether studies adopted exclusion criteria relating to NDD and the rationale for such criteria. The search identified 2270 records, of which twenty-nine studies assessed CBM for interpretations and were included in the qualitative synthesis. Three studies targeted bias in NDD, whereas a third of studies explicitly excluded participants based on NDD-related criteria: most frequently intellectual impairment, reading or learning difficulties and autism spectrum disorder (ASD). Only one study provided a rationale for excluding NDD which related to the reading demands of their intervention. There is tentative evidence for the feasibility of using CBM to reduce interpretation bias in children and young people with mild intellectual disability, ASD or attention-deficit/hyperactivity disorder (ADHD). We recommend that CBM research should consider including participants with NDD, use CBM tasks and adaptations that enable this group\'s inclusion, or provide a sufficient rationale for their exclusion.

Similarity-based categorization, as an important cognitive skill, can be performed by abstracting a categories\' central tendency, the so-called prototype, or by memorizing individual exemplars of a category. The flexible selection of an appropriate strategy is crucial for effective cognitive functioning. The detail-focused cognitive style in individuals with autism spectrum disorders (ASD) has been hypothesized to specifically impair prototype-based categorization but to leave exemplar-based categorization unimpaired. We first give an overview of approaches to investigate prototype-based abstraction in the prototype-distortion task, with an emphasis on model-based approaches suitable to discern the two strategies on the individual level. The second part summarizes literature speaking to prototype-based categorization in ASD using that task. Despite considerable inconsistencies, most studies appear to confirm that autistic individuals have more difficulties to perform prototype-distortion tasks than non-autistic individuals. We highlight how inconsistencies in literature can be resolved by taking the differences in task designs into account. The current review illustrates the need for sensitive computational approaches, suitable to detect hidden individual differences and potential compensatory strategies.

Bisphenol A and phthalate have been found in the environment, as well as in humans. In this narrative review pre- and postnatal bisphenol A and phthalate exposures, their relationship to neurodevelopment, and the behavioral outcomes of children are elucidated, focusing in particular on the recent case-control, cross-sectional, and longitudinal studies. This review also introduces some of the possible mechanisms behind the observed associations between exposures and outcomes.
Although bisphenol A and phthalate exposure have been reported to influence neurobehavioral development in children, there are various kinds of test batteries for child neurodevelopmental assessment at different ages whose findings have been inconsistent among studies. In addition, the timing and number of exposure assessments have varied.
Overall, this review suggests that prenatal exposure to bisphenol A and phthalates may contribute to neurobehavioral outcomes in children. The evidence is still limited; however, Attention Deficit Hyperactivity Disorder (ADHD) symptoms, especially among boys, constantly suggested association with both prenatal and concurrent exposure to bisphenol A. Although there is limited evidence on the adverse effects of prenatal and postnatal bisphenol A and phthalate exposures provided, pregnant women and young children should be protected from exposure based on a precautionary approach.

BACKGROUND: The clinical and scientific value of Prechtl general movement assessment (GMA) has been increasingly recognised, which has extended beyond the detection of cerebral palsy throughout the years. With advancing computer science, a surging interest in developing automated GMA emerges.
OBJECTIVE: In this scoping review, we focused on video-based approaches, since it remains authentic to the non-intrusive principle of the classic GMA. Specifically, we aimed to provide an overview of recent video-based approaches targeting GMs; identify their techniques for movement detection and classification; examine if the technological solutions conform to the fundamental concepts of GMA; and discuss the challenges of developing automated GMA.
METHODS: We performed a systematic search for computer vision-based studies on GMs.
RESULTS: We identified 40 peer-reviewed articles, most (n = 30) were published between 2017 and 2020. A wide variety of sensing, tracking, detection, and classification tools for computer vision-based GMA were found. Only a small portion of these studies applied deep learning approaches. A comprehensive comparison between data acquisition and sensing setups across the reviewed studies, highlighting limitations and advantages of each modality in performing automated GMA is provided.
CONCLUSIONS: A \"method-of-choice\" for automated GMA does not exist. Besides creating large datasets, understanding the fundamental concepts and prerequisites of GMA is necessary for developing automated solutions. Future research shall look beyond the narrow field of detecting cerebral palsy and open up to the full potential of applying GMA to enable an even broader application.

Neural development requires the orchestration of dynamic changes in gene expression to regulate cell fate decisions. This regulation is heavily influenced by epigenetics, heritable changes in gene expression not directly explained by genomic information alone. An understanding of the complexity of epigenetic regulation is rapidly emerging through the development of novel technologies that can assay various features of epigenetics and gene regulation. Here, we provide a broad overview of several commonly investigated modes of epigenetic regulation, including DNA methylation, histone modifications, noncoding RNAs, as well as epitranscriptomics that describe modifications of RNA, in neurodevelopment and diseases. Rather than functioning in isolation, it is being increasingly appreciated that these various modes of gene regulation are dynamically interactive and coordinate the complex nature of neurodevelopment along multiple axes. Future work investigating these interactions will likely utilize \'multi-omic\' strategies that assay cell fate dynamics in a high-dimensional and high-throughput fashion. Novel human neurodevelopmental models including iPSC and cerebral organoid systems may provide further insight into human-specific features of neurodevelopment and diseases.

People with developmental disorders (DD) often display high levels of selective eating, which can result in micronutrient deficiencies. It is therefore essential to explore ways to increase dietary variety in this population. To identify different types of interventions promoting increased acceptance of new foods or dietary variety for DD populations and to determine their effectiveness. Thirty-six studies met criteria for inclusion in the review. Twenty-two types of intervention were identified with 34 studies being reported as effective and 33 of these incorporating components drawn from learning theory. Multi-component interventions centred on operant conditioning, systematic desensitisation and changes to environment and familial practices were reported as effective for individuals.

The prevalence of autism spectrum disorder (ASD) in many genetic disorders is well documented but not as yet in Mucopolysaccharidosis type III (MPS III). MPS III is a recessively inherited metabolic disorder and evidence suggests that symptoms of ASD present in MPS III. This systematic review examined the extant literature on the symptoms of ASD in MPS III and quality assessed a total of 16 studies. Results indicated that difficulties within speech, language and communication consistent with ASD were present in MPS III, whilst repetitive and restricted behaviours and interests were less widely reported. The presence of ASD-like symptoms can result in late diagnosis or misdiagnosis of MPS III and prevent opportunities for genetic counselling and the provision of treatments.

Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted. Sixteen papers were included; 11 of these described developmental disorders. The most common reported anomalies were neural tube defects, corpus callosum agenesis or hypoplasia, intracranial lipoma, Arnold-Chiari malformations, hydrocephaly, ventriculomegaly, and cerebral hypoplasia. The prevalence of CNS anomalies in CFM varied from 2% to 69%. The prevalence of developmental disorders, such as intellectual disability, language or speech developmental delay, and neuropsychomotor delay, varied from 8% to 73%. This study suggests that CNS anomalies and developmental disorders are seen in a substantial proportion of patients with CFM. Further research should focus on determining which features of CFM are correlated with CNS anomalies to allow adequate screening and timely care.