Objective: To socio-culturally adapt and validate a Hindi language version of ASQ-3 in Indian children aged 2-24 months.
Methods: This cross-sectional study was conducted at a tertiary-care center between March, 2017 and April, 2019. Children "at-risk" for developmental delay of either gender aged 2-24 months. Socio-cultural adaptation was done through interaction among 37 subject experts followed by validation. After piloting in 20 children, modified ASQ-3 was validated in 568 at-risk children (4 age-groups: 2-7, 7-13, 13-19 and 19-24 months). Validation was done against Development assessment scale for Indian infants (DASII).
Results: Results: After screening 654 children, 568 were enrolled. Among these, 420 had developmental delay on DASII while 18 failed to be identified on ASQ (4.3%). Overall sensitivity and specificity of Hindi language Indian-adaptation of ASQ-3 in detecting developmental delay were 95.9% (95%CI: 93.6%-97.5%) and 81.7% (95%CI: 74%-87.9%), respectively with a positive predictive value (PPV) of 94.6% (95%CI: 92%-96.5%) and negative predictive value (NPV) of 85.6% (95%CI: 78.2%-92.2%). The sensitivity and specificity for motor delay were 96.1% (93.8%-97.7%) and 92.4% (86.4%-96.3%) [PPV: 97.7% (95.8%-98.9%); NPV: 87.7% (81%-92.7%)]. Sensitivity and specificity for mental delay were 95.5% (93.1%-97.2%)and 95.3% (90.1%-98.3%) [PPV: 98.6% (97%-99.5%); NPV: 85.9% (79.1%-91.2%)].
Conclusion: The Hindi language Indian-adaptation of ASQ-3 had good psychometric properties with high sensitivity for developmental delay (95.9%), mental delay (95.5%), and motor delay (96.1%), suggesting it to be a good screening tool for neurodevelopmental delay.
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PLoS One
January 2025
Departments of Public Health, Institute of Health Sciences, Wollega University, Ethiopia.
Introduction: The mortality rate among Human immunodeficiency Virus (HIV) who have started antiretroviral therapy (ART) continues to be increased in resource-limited countries, despite a decline in developed nations. Furthermore, research within this age group is limited and has not previously been conducted in the study area. Consequently, this study aimed to determine the incidence of mortality and its predictors among HIV-positive children who have been receiving ART at public health facilities in West Wollega.
View Article and Find Full Text PDFMov Disord
January 2025
British Columbia Children's Hospital Research Institute, Vancouver, British Columbia, Canada.
Background: Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients and families.
Objective: The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.
Neurogenetics
January 2025
Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
The cytoskeleton, composed of microtubules, intermediate filaments and actin filaments is vital for various cellular functions, particularly within the nervous system, where microtubules play a key role in intracellular transport, cell morphology, and synaptic plasticity. Tubulin-specific chaperones, including tubulin folding cofactors (TBCA, TBCB, TBCC, TBCD, TBCE), assist in the proper formation of α/β-tubulin heterodimers, essential for microtubule stability. Pathogenic variants in these chaperone-encoding genes, especially TBCD, have been linked to Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum (PEBAT, OMIM #604,649), a severe neurodevelopmental disorder.
View Article and Find Full Text PDFEnviron Health Perspect
January 2025
Department of Environmental Health Sciences, Yale School of Public Health, New Haven, Connecticut, USA.
Background: Cerebral palsy (CP) is the most common permanent neuromotor disorder diagnosed in childhood. Although most cases have unknown etiology, emerging evidence suggests environmental risk factors of CP.
Objectives: We investigated whether ambient toxic air contaminants (TACs) in the maternal residential area during pregnancy, specifically volatile organic compounds (VOCs) and metals, were associated with offspring CP risk in California.
World J Biol Psychiatry
January 2025
Division of Genetics, Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran.
Background: Genes associated with global developmental delay (GDD) and intellectual disability (ID) are increasingly being identified through next-generation sequencing (NGS) technologies. This study aimed to identify novel mutations in GDD/ID phenotypes through whole-exome sequencing (WES) and additional analyses.
Material And Methods: WES was performed on 27 subjects, among whom 18 were screened for potential novel mutations.
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