Background: Developmental delays in children are often missed during routine medical visits, leading to long-term consequences if undetected. The Children's Emergency Room (CHER) offers a unique opportunity for early screening, serving as a frequent contact point for families. This study aimed to assess the developmental profiles of children presenting to CHER at NAUTH, Nnewi, Anambra State, Nigeria, emphasizing the need for early intervention.
Methods: In this cross-sectional, mixed-methods study, children aged 0-5.5 years presenting to CHER over one month were screened using the Ages and Stages Questionnaire (ASQ-3). Data analysis was conducted using STATA 16.0, and children with identified developmental delays were referred to the Developmental and Behavioural Paediatrics (DBP) clinic. Interviews with healthcare providers and caregivers explored the feasibility of implementing routine screening in CHER.
Results: Out of 34 children screened, 55.9% (19/34) displayed developmental delays, with problem-solving and fine motor skills being the most affected (29.4% each). Global developmental delay was identified in 32.4% (11/34). Female children had significantly higher communication delays than males (29.4% vs. 0%, p=0.044). Sixty percent of healthcare providers believed screening would be feasible with additional training and resources.
Conclusion: The high prevalence of developmental delays, particularly in girls' communication skills, highlights the need for early detection. With adequate training and resources, integrating developmental screening into CHER could significantly enhance early intervention efforts and address the unmet needs of children in resource-limited settings.
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J Clin Endocrinol Metab
January 2025
Department of Molecular Epidemiology, Graduate School of Medicine, Tohoku University, Sendai, Miyagi 980-8575, Japan.
Background: The association of maternal hyperglycemia with childhood developmental delay has been examined; however, only 2 studies used maternal blood glucose level as a continuous variable as an exposure. A present study aimed to investigate the influence of maternal fasting plasma glucose (mFPG) level in early gestation on developmental delay in children.
Methods: This cohort study included 1541 mother-child pairs who participated in the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study.
Neurol Sci
January 2025
Department of Pediatrics, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-ro, Gangnam-gu, Seoul, 135-720, Korea.
This study presents the first reported case of a Korean patient with Alpha-1,3-Mannosyltransferase-Congenital Disorder of Glycosylation (ALG3-CDG), characterized by a novel maternally inherited missense mutation and a previously reported paternally inherited nonsense mutation. The patient exhibited typical ALG3-CDG manifestations, including developmental delays, epilepsy, and multisystem involvement, alongside a diagnosis of Lennox-Gastaut Syndrome (LGS). Cannabidiol therapy, combined with dietary management, led to seizure freedom for over 13 months, significant EEG improvement, and enhanced developmental outcomes.
View Article and Find Full Text PDFJ Neurochem
January 2025
Nantes Université, INRAE, UMR 1280, Physiologie des Adaptations Nutritionnelles, Nantes, France.
Obesity leads to a number of health problems, including learning and memory deficits that can be passed on to the offspring via a developmental programming process. However, the mechanisms involved in the deleterious effects of obesity on cognition remain largely unknown. This study aimed to assess the impact of obesity on the production of sphingolipids (ceramides and sphingomyelins) in the brain and its relationship with the learning deficits displayed by obese individuals.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
Department of Pediatrics, Taihe County People's Hospital, Fuyang, Anhui, China.
Background: Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of brain disorders. Variants in the Rho-related BTB domain-containing 2 gene (RHOBTB2) can lead to DEE64, which is characterized by early-onset epilepsy, varying degrees of motor developmental delay and intellectual disability, microcephaly, and movement disorders. More than half of the variants are located at Arg483 and Arg511 within the BTB domain; however, the underlying mechanism of action of these hotspot variants remains unexplored.
View Article and Find Full Text PDFBr J Hosp Med (Lond)
December 2024
Department of Rheumatology, University College London (UCL) Hospital Foundation Trust, London, UK.
Sjögren disease (SjD) is a systemic autoimmune disorder affecting both children and adults, with a wide range of clinical phenotypes. It remains a challenging condition to recognise and diagnose early and manage effectively. The heterogeneous nature of the presentation, variable disease course and overlapping symptoms with other autoimmune conditions often result in delayed diagnosis.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!