Difficulties with self-care skills are frequently observed in children with developmental delays. Given the scarcity of robust evidence backing self-care interventions for this group, this scoping review is designed to aggregate existing literature on the implementation of such interventions. Therefore, this scoping review aims to collate literature on the nature of self-care intervention implementation to increase understanding of the current practice and inform future research directions. This scoping review endeavoured to explore the body of literature concerning the existence of self-care interventions and their implementation strategies in children who have developmental delays. Relevant studies were identified by searching through the following databases: Web of Science (W0S), Scopus, ASEAN Citation Index (ACI), CINAHL EBSCO and PubMed. Six types of interventions using various approaches were identified. Occupational therapists mainly manage intervention providers with multidisciplinary co-facilitator and parents\' involvement. Whilst session information varied, some evidence suggests that at least 30 min per session, minimum once per week up to twice per week, ranging from 10 to 23 sessions, may be sufficient. Intervention plans should be tailored to each child\'s unique needs, taking into account the variety of available interventions. Collaboration among occupational therapists, parents, educators and health professionals in home programmes enhances self-care intervention outcomes. These results are set to inform future research and practice, paving the way for enhanced support and improved outcomes for children with developmental delays.

Monocarboxylate transporter 8 (MCT8) deficiency is a rare, X-linked disorder arising from mutations in the SLC16A2 gene and resulting from dysfunctional thyroid hormone transport. This disorder is characterized by profound neurodevelopmental delay and motor disability due to a lack of thyroid hormone in the brain, and coexisting endocrinological symptoms, due to chronic thyrotoxicosis, resulting from elevated thyroid hormone outside the central nervous system (CNS). In February 2024, we reviewed the published literature to identify relevant articles reporting on the current unmet needs of patients with MCT8 deficiency. There are several main challenges in the diagnosis and treatment of MCT8 deficiency, with decreased awareness and recognition of MCT8 deficiency among healthcare professionals (HCPs) associated with misdiagnosis and delays in diagnosis. Diagnostic delay may also be attributed to other factors, including the complex symptomology of MCT8 deficiency only becoming apparent several months after birth and pathognomonic serum triiodothyronine (T3) testing not being routinely performed. For patients with MCT8 deficiency, multidisciplinary team care is vital to optimize the support provided to patients and their caregivers. Although there are currently no approved treatments specifically for MCT8 deficiency, earlier identification and diagnosis of this disorder enables earlier access to supportive care and developing treatments focused on improving outcomes and quality of life for both patients and caregivers.

METTL23 belongs to a family of protein lysine methyltransferases that methylate non-histone proteins. Recently, the METTL23 gene has been reported to be related to an intellectual developmental disorder, autosomal recessive 44. Patients present with developmental delay, intellectual disability (ID), and variable dysmorphic features. Here, we report on a Chinese girl who presented with global developmental delay, abnormal brain structure, and multiple facial deformities, including a short/upturned nose with a sunken bridge, thin lips, and flat occiput. Whole-exome sequencing identified a novel variant (NM_001080510.5: c.322+1del) on the METTL23 gene. This variant was not collected on public human variants databases such as gnomAD, predicted to influence the splicing as a classical splicing variant, and classified as Pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Since patients with METTL23-related ID are rare, we summarize and compare the clinical phenotype of reported patients with METTL23 variants. Our report further expands the METTL23 variants and provides new evidence for clinical diagnosis of METTL23-related ID.

BACKGROUND: Many experts and communities have concerns about how National Disability Insurance Scheme services are provided to Aboriginal and Torres Strait children. This study was undertaken at the request of the NPY Women\'s Council in partnership with the researchers, to explore supports for Aboriginal and Torres Strait Islander children living with a disability in their remote areas.
OBJECTIVE: This scoping review aims to (a) explore the barriers and enablers to accessing disability support services for families of young Aboriginal and Torres Strait Islander children (0-8 years) living in regional, rural and remote settings, and (b) summarise best practice approaches for accessing support for young children in these settings.
METHODS: The search was run in three electronic databases, as well as grey literature sources. We assessed the quality of included publications using the Centre of Research Excellence in Aboriginal Chronic Disease Knowledge Translation and Exchange tool. A narrative synthesis was supported by thematic analysis.
RESULTS: From an initial search (557 citations), we identified 13 eligible documents. Most documents were peer-reviewed articles of qualitative studies. Key themes identified included the following: (1) Holistic approach, (2) Understanding disability, (3) Consistent relationships, (4), Flexibility, (5) Simplify system and (6) Enhance communication.
CONCLUSIONS: This scoping review has revealed gaps in the provision of quality, culturally responsive disability services for families of Aboriginal and Torres Strait Islander children living in regional, rural and remote areas of Australia. A family-centred, flexible approach will help address their needs. Future research is required to design and evaluate models of care for Aboriginal and Torres Strait Islander children.

Background: The SMARCB1 gene encodes a subunit of the BRG1-Associated Factor (BAF) complex, and mutations in this gene have been linked to Coffin-Siris Syndrome (CSS) type 3. CSS is characterized by a range of developmental disabilities, facial dysmorphic features, and feeding difficulties. There\'s been noted genotype-phenotype correlation in CSS, with cases involving SMARCB1 mutations often exhibiting more severe language impairment and intellectual disability. Method: We conducted a review of reported CSS type 3 cases and presented the first instance of CSS associated with a SMARCB1 variant wherein the patient exhibited normal intelligence and only mild selective neuropsychological deficits. The patient underwent evaluation for feeding challenges, growth delay, and dysmorphic features during their second year of life. Subsequently, CSS diagnosis was confirmed due to a de novo heterozygous c.568C > T (p.Arg190Trp) variant in the SMARCB1 gene. Due to learning difficulties, the patient underwent a comprehensive neuropsychological assessment, which was related to the retrospective reconstruction of her medical and developmental history. Results: The patient demonstrated normal intelligence and adaptive functioning, with specific deficits in arithmetic and selective difficulties in verbal learning and long-term memory. Feeding difficulties and language delay observed in early childhood showed significant improvement over time. Discussion: We discuss this case in relation to previously reported CSS type 3 cases, emphasizing neuropsychological aspects. It\'s evident that neuropsychological features of CSS can vary among affected individuals, highlighting the importance of personalized support and interventions tailored to specific cognitive and emotional needs by healthcare professionals. Our case suggests avenues for future research to identify specific modifiers of phenotypic expression to explain variability in intellect among patients and pinpoint potential targets for gene therapy.

UNASSIGNED: X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder caused by a pathogenic variant of the ABCD1 gene, leading to impaired peroxisomal function and the accumulation of very long-chain fatty acids (VLCFAs). ALD presents a wide range of neurological and adrenal symptoms, ranging from childhood cerebral adrenoleukodystrophy to adrenomyeloneuropathy and adrenal insufficiency. Newborn screening (NBS) for ALD is available in some regions but remains lacking in others, such as India.
UNASSIGNED: We present a case of a 10-year-old boy with ALD who presented with seizures, progressive weakness, visual impairment, and adrenal insufficiency. Despite symptomatic management and dietary adjustments, the disease progressed rapidly, leading to respiratory failure and eventual demise. The diagnosis was confirmed through molecular analysis and elevated VLCFA levels. Neuroimaging revealed characteristic white matter changes consistent with ALD.
UNASSIGNED: ALD is a devastating disease with no cure, emphasizing the importance of early detection through newborn screening and genetic testing. Management strategies include adrenal hormone therapy, gene therapy, and allogenic stem cell transplantation, as well as investigational treatments such as VLCFA normalization. Our case advocates the need for worldwide NBS and pediatric neurologic follow-up to enable early intervention and improve patient outcomes. Additionally, the association between ALD, recurrent febrile seizures, and unexplained developmental delay warrants further investigation to better understand disease progression and potential therapeutic targets.

UNASSIGNED: Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) syndrome (OMIM #616266) is an autosomal dominant hereditary disease that can lead to the congenital contracture of the limbs and face, hypotonia, and developmental delay. In addition, it may result in growth retardation and present various clinical symptoms, such as brain atrophy, a small pituitary gland, musculoskeletal abnormalities, abnormal breathing, abdominal hernia, and abnormal facial features. Herein, we describe a novel de novo missense genetic variant in the sodium leak channel, non-selective (NALCN) gene that is associated with CLIFAHDD syndrome.
UNASSIGNED: This study describes a patient with varus deformities in both feet, deviation of the ulnar side of the fingers, and severe hypotonia. This patient was subsequently confirmed to have CLIFAHDD syndrome through genetic testing, which also revealed a novel missense de novo genetic variant in the NALCN gene (c.3553G > A, p.Ala1185Thr).
UNASSIGNED: Our findings further enrich the known variant spectrum of the NALCN gene and may expand the range of clinical options for treating NALCN-related disorders.

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.

Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental condition characterized by congenital mid-hindbrain abnormalities and a variety of clinical manifestations. This article describes a case of Joubert syndrome type 21 with microcephaly, seizures, developmental delay and language regression, caused by a CSPP1 gene variant and examines the contributing variables. This paper advances the understanding of JS by summarizing the literature and offering detection patterns for practitioners with clinical suspicions of JS.

Biallelic variants in the OTUD6B gene have been reported in the literature in association with an intellectual developmental disorder featuring dysmorphic facies, seizures, and distal limb abnormalities. Physical differences described for affected individuals suggest that the disorder may be clinically recognizable, but previous publications have reported an initial clinical suspicion for Kabuki syndrome (KS) in some affected individuals. Here, we report on three siblings with biallelic variants in OTUD6B co-segregating with neurodevelopmental delay, shared physical differences, and other clinical findings similar to those of previously reported individuals. However, clinical manifestations such as long palpebral fissures, prominent and cupped ears, developmental delay, growth deficiency, persistent fetal fingertip pads, vertebral anomaly, and seizures in the proband were initially suggestive of KS. In addition, previously unreported clinical manifestations such as delayed eruption of primary dentition, soft doughy skin with reduced sweating, and mirror movements present in our patients suggest an expansion of the phenotype, and we perform a literature review to update on current information related to OTUD6B and human gene-disease association.