Publications by authors named "Shaoli Sarker"
Article Synopsis
- - The study investigates the genetic basis of neurodevelopmental disorders (NDDs) in a diverse ethnic group with high consanguinity, focusing on 576 individuals to reveal significant genetic insights.
- - Different sequencing methods were used to diagnose genetic causes, with a notable increase in diagnostic rates for children of consanguineous parents; combined CMA and exome sequencing yielded a 37.13% diagnostic rate.
- - Key findings include the discovery of novel genetic variants related to NDDs, the identification of an association between G6PD variants and NDDs, and hints at the influence of ancient genetic drift in this Bangladeshi population.
Article Synopsis
- The 15q11-q13 genetic region is crucial for neurodevelopment and exhibits genomic imprinting, where gene expression differs depending on whether the gene is inherited from the mother or the father.
- Neurodevelopmental disorders like Prader-Willi syndrome and Angelman syndrome arise from the absence of specific genes in this region due to imprinting errors.
- A genomic study was conducted on a Bangladeshi population to identify pathogenic variants in this region, leading to in-depth clinical evaluations of individuals with suspected neurodevelopmental disorders.
Duchenne muscular dystrophy (DMD) is a severe rare neuromuscular disorder caused by mutations in the X-linked dystrophin gene. Several mutations have been identified, yet the full mutational spectrum, and their phenotypic consequences, will require genotyping across different populations. To this end, we undertook the first detailed genotype and phenotype characterization of DMD in the Bangladeshi population.
View Article and Find Full Text PDFCopy number variations (CNVs) play a critical role in the pathogenesis of neurodevelopmental disorders (NDD) among children. In this study, we aim to identify clinically relevant CNVs, genes and their phenotypic characteristics in an ethnically underrepresented homogenous population of Bangladesh. We have conducted chromosomal microarray analysis (CMA) for 212 NDD patients with male to female ratio of 2.
View Article and Find Full Text PDFBeliefs About COVID-19 of Elderly Residents in Rural Bangladesh.
Asia Pac J Public Health
November 2020
This study explored the physical and clinical phenotype of Bangladeshi children with autism spectrum disorder (ASD). A totally of 283 children who were referred for screening and administered Module 1 of the Autism Diagnostic Observation Schedule (ADOS) were included. Overall, 209 met the ADOS algorithmic cutoff for ASD.
View Article and Find Full Text PDFBackground: The 2017 political violence against the Rohingya people in the state of Rakhine resulted in a large influx of displaced populations into Bangladesh. Given harsh conditions and experiences in Myanmar, and the harrowing journey to the border, raised levels of child neurodevelopmental disorders (NDDs) and mental health problems were expected.
Methods: A team of child development professionals, physicians, psychologists, and developmental therapists screened 622 children in clinics within the refugee camps using the Developmental Screening Questionnaire (DSQ; 0-<2 years), and the Ten Questions Plus (TQP) for NDDs, and Strengths and Difficulties Questionnaire (SDQ; 2-16 years) for mental health problems.