A5005559877- Autism Spectrum Disorder Research
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Chromosomal and Genetic Variations
- Child Nutrition and Feeding Issues
- Congenital Heart Disease Studies
- Family and Disability Support Research
- Infant Development and Preterm Care
- Williams Syndrome Research
- Neonatal Respiratory Health Research
- Peptidase Inhibition and Analysis
- Congenital heart defects research
- RNA regulation and disease
- Child Nutrition and Water Access
- Hearing, Cochlea, Tinnitus, Genetics
- Immunodeficiency and Autoimmune Disorders
- Date Palm Research Studies
- Genetic Syndromes and Imprinting
- Connective tissue disorders research
- Genetic Neurodegenerative Diseases
- Nuclear Receptors and Signaling
- Chronic Obstructive Pulmonary Disease (COPD) Research
- melanin and skin pigmentation
National Research Centre
2017-2025
Agricultural Genetic Engineering Research Institute
2021-2023
National Institute of Health
2020
Abstract This study aimed to provide a national estimate of the prevalence high risk autism spectrum disorder (ASD) and their determinants. A screening survey was conducted for 41,640 Egyptian children aged 1 12 years in two phases. Tools used were Vineland's Adaptive Behavior Scales, Modified Checklist Autism Toddlers, Gilliam Rating scale, Denver II Developmental test. The overall at ASD 3.3% (95% CI:3.1%–3.5%). Children living without mothers homes, suffered from convulsions (AOR = 3.67;...
Abstract Rubinstein–Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by loss‐of‐function variants in CREBBP or EP300 . Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, and intellectual disability. RSTS phenotype has been well characterized of European descent but not other populations. In this study, from diverse populations were assessed clinical examination facial analysis technology. Clinical data 38 14 different countries...
Abstract Background Child disability has significant implications on their well-being and healthcare systems. Aim: This survey aimed to assess the magnitude of seven types among Egyptian children aged 1 < 6 years socio-demographic, epidemiological, perinatal predictors. Methods A national population-based cross-sectional household targeting 21,316 from eight governorates was conducted. The screening questionnaire derived WHO ten-question tool validated for identifying categories. Results...
Abstract Background Variants in the bone morphogenetic protein 2 receptor gene ( BMPR2 ) are most frequent genetic cause of pulmonary arterial hypertension (PAH). However, correlation variants and PAH clinical phenotype remains to be elucidated. Methods results The goal present study is investigate causative 25 Egyptian patients clinically pre-diagnosed with symptoms 10 healthy candidates using Sanger sequencing technique. Three pathogenic heterozygous missense have been illustrated gene,...
Objectives Fibrodysplasia ossificans progressiva (FOP) is a rare ectopic ossification disorder of connective tissue deposited in the muscles, fascia, tendons, and ligaments. The disease an autosomal dominant pattern caused by pathogenic variants ACVR1 . Herein, we describe largest number affected individuals from Middle East North Africa region who presented with FOP. Methods DNA extraction molecular studies using Sanger sequencing was done for nine developing bony swellings variable...
Abstract Hearing loss (HL) is an impending disorder. The high incidence of congenital genetic HL affects the language and communication skills a large number children worldwide. Our study mainly concerned with exploring etiology hearing through Sanger sequencing coding exon in GJB2 , most common causative gene worldwide, 17 patients from 13 unrelated families followed by whole exome for cases showing biallelic wildtype . Eleven eight showed homozygous compound heterozygous variants gene. Six...
ABSTRACT Copy number variants (CNVs) contribute significantly to the pathogenicity of rare genetic diseases and tend have a more severe effect on phenotype compared single nucleotide (SNVs). In past decades, exome sequencing (ES) has proven valuable input in characterization underlying defects. Our aim was investigate impact integrating CNV analysis tools into standard ES its diagnostic yield. We worked data from an original cohort 840 patients, whom first able detect causative SNVs indels...
Abstract Background The prevalence of autism spectrum disorder (ASD), a common developmental disorder, has surged in recent years. Accordingly, the identification and early management possible risk factors can diminish ASD incidence. Aim To determine severity idiopathic Egyptian children aged 12 months to years, identify epidemiological, sociodemographic, environmental contributing this disorder. Methods This study comprised 41,640 from main eight geographic areas Egypt. It was conducted...
Turner syndrome (TS) is a common multiple congenital anomaly resulting from complete or partial absence of the second X chromosome. In this study, we explore phenotype TS in diverse populations using clinical examination and facial analysis technology. Clinical data 78 individuals images 108 with 19 different countries were analyzed. Individuals grouped into categories African descent (African), Asian, Latin American, Caucasian (European descent), Middle Eastern. The most features across all...
Abstract Autism is associated with genomic instability, which regulated by telomere length (TL) and index of global methylation (LINE-1). This study will determine relative TL (RTL) LINE-1 percentage for 69 patients 33 control subjects to evaluate their potential role as biomarkers autism. The results displayed a significant decrease both RTL in autistic cases controls ( P < 0.001). Analysis receiver operating characteristics curve revealed that have the ability serve autism (area under =...
Abstract Background Autism spectrum disorders (ASD) is a heterogeneous neurodevelopmental disease, various articles reported that dysfunctional folate‐methionine pathway enzymes might assume paramount part in the pathophysiology of autism. Methylene tetrahydrofolate reductase (MTHFR) basic catalyst for this pathway, also MTHFR gene C677T variant accounted as risk factor Objective The present study aimed to investigate association rs1801133(C677T) among Egyptian autistic children . Methods...
Early childhood life is critical for optimal development and the foundation of future well-being. Genetic, sociocultural, environmental factors are important determinants child development.The objectives were to screen suspected developmental delays (DDs) among Egyptian preschool children, explore these based on sociodemographic, epidemiological, maternal, perinatal risk factors.A national cross-sectional screening a representative sample children (21,316 children) aged 12 71 months. The...
Abstract Background This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint chromosomal breakpoints, and identify critical region for trigonocephaly, which is a frequent finding in terminal deletion. Methods We investigated cohort nine chromosome deletions who all displayed developmental delay, intellectual disability, hypotonia, dysmorphic features. Of them, eight had seven brain anomalies, autistic manifestations, fair hair, six congenital heart defect...
This study aimed to estimate the national prevalence of developmental delays (DDs) and their determinants among Egyptian children aged 6 12 years. Such estimation is a prerequisite step toward application Life Skill Education (LSE) programs that will potentiate children's future capabilities.
Severe combined immunodeficiency (SCID) is a form of immunodeficiencies (PID), caused by molecular defects. These defects can restrict the development and function lymphocytes. Early diagnosis treatment SCID lead to disease-free survival. This study aims investigate some possible underlying genetic in group Egyptian infants children with clinical immunological profiles suggestive SCID.
Abstract Background The hallmarks of Emanuel syndrome are pre- and postnatal growth retardation, microcephaly, global developmental delay, ear anomalies, in males, heart, kidney, genital abnormalities. Results This study describes the atypical features syndrome, a rare chromosomal disorder. patient had several physical that common such as hypotonia, anomalies. However, he exhibited certain unusual characteristics, including lack prominent forehead, epicanthic folds, downward slanting...
Abstract Background The nutritional status and growth of children with Autism spectrum disorders (ASD) is influenced significantly by two factors; food selectivity behaviors due to their consumption a limited variety the high incidence gastrointestinal (GIT) disorders. Aim This study aimed assess adequacy pattern ASD aged three twelve years compared healthy developing peers. Methods A national comparative, facility-based cross-sectional was conducted in eight Egyptian governorates on 285...