A5003508333- Prenatal Substance Exposure Effects
- Gestational Diabetes Research and Management
- Birth, Development, and Health
- Genomics and Rare Diseases
- Folate and B Vitamins Research
- Autism Spectrum Disorder Research
- Family and Disability Support Research
- Genetics and Neurodevelopmental Disorders
- Neonatal Health and Biochemistry
- Urological Disorders and Treatments
- Acute Myeloid Leukemia Research
- Otitis Media and Relapsing Polychondritis
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Attention Deficit Hyperactivity Disorder
- Neonatal and fetal brain pathology
- Pediatric Urology and Nephrology Studies
- Neurofibromatosis and Schwannoma Cases
- Tracheal and airway disorders
- Genetic factors in colorectal cancer
- Biochemical and Molecular Research
- Fetal and Pediatric Neurological Disorders
- Renal and related cancers
- Child Nutrition and Feeding Issues
- Congenital Heart Disease Studies
- Homelessness and Social Issues
Stellenbosch University
2015-2023
King's College Hospital
2023
Tygerberg Hospital
2018-2021
University of New Mexico
2017
Red Cross War Memorial Children's Hospital
2012
University of Cape Town
2012
Right to Care
2006
PurposeThe variant spectrum and the phenotype of X-linked Kabuki syndrome type 2 (KS2) are poorly understood.MethodsGenetic clinical details new published individuals with pathogenic KDM6A variants were compiled analyzed.ResultsSixty-one distinct (50 truncating, 11 missense) from 80 patients (34 males, 46 females) identified. Missense clustered in TRP 2, 3, 7 Jmj-C domains. Truncating significantly more likely to be de novo. Thirteen had maternally inherited one a paternally variant....
Background: Prevalence and characteristics of fetal alcohol syndrome (FAS) total spectrum disorders (FASD) were studied in a second sample three South African rural communities to assess change. Methods: Active case ascertainment focused on children with height, weight and/or head circumference ≤25th centile randomly-selected children. Final diagnoses based dysmorphology, neurobehavioral scores, maternal risk interviews. Results: Cardinal facial features, circumference, dysmorphology scores...
To examine outcomes among boys and girls that are associated with prenatal alcohol exposure.Boys fetal spectrum disorders (FASD) randomly-selected controls were compared on a variety of physical neurobehavioral traits.Sex ratios indicated heavy maternal binge drinking may have significantly diminished viability to birth survival postpartum more than by age seven. Case control comparisons traits at seven indicate both sexes affected similarly for majority variables. However, alcohol-exposed...
BACKGROUND AND OBJECTIVES: Fetal alcohol spectrum disorders (FASD) comprise the continuum of disabilities associated with prenatal exposure. Although infancy remains most effective time for initiation intervention services, current diagnostic schemes demonstrate greatest confidence, accuracy, and reliability in school-aged children. Our aims study were to identify growth, dysmorphology, neurodevelopmental features infants that predictive FASD at age 5, thereby improving timeliness diagnoses....
The adverse effects of maternal alcohol use during pregnancy represent a spectrum growth restriction, facial dysmorphology, and neurocognitive challenges in the offspring. continuum diagnoses is referred to as fetal disorders (FASD). Short palpebral fissures, smooth philtrum, thin vermilion border upper lip comprise three cardinal features FASD. Early attempts define philtrum were subjective. Astley colleagues introduced 5-point Likert-scaled lip/philtrum guide based on Caucasian North...
BackgroundLynch Syndrome (LS) is a cancer predisposition syndrome caused by constitutional pathogenic variants in the mismatch repair (MMR) genes. To date, fragmentation of clinical and genomic data has restricted understanding national LS ascertainment outcomes, precluded evaluation NICE guidance on testing management. address this, via collaboration between researchers, National Disease Registration Service (NDRS), NHS Genomic Medicine Alliances (GMSAs), Regional Clinical Genetics...
Abstract Hyperphosphatasia with mental retardation syndrome (HPMRS) is a rare autosomal recessive disorder caused by pathogenic variants in genes involved glycosylphosphatidylinositol metabolism that result similar phenotype. We describe the first three patients HPMRS from sub‐Saharan Africa. Detection was assisted Face2Gene phenotype matching and confirmed presence of elevated serum alkaline phosphatase. All had severe intellectual disability, absent speech, hypotonia palatal abnormality...
Background Pregnant women participated in multifaceted case management (MCM) to prevent Fetal Alcohol Spectrum Disorders (FASD).Methods Women recruited from antenatal clinics for a longitudinal child development study were screened alcohol use. Forty-four pregnant defined as high-risk drinkers on the Use Disorder Identification Test (AUDIT) by an AUDIT score ≥8 and 18 months of MCM facilitate reduction or cessation consumption. Forty-one completed MCM. Fifty-five equally who received...
Background: Intrapartum events kill 1 million babies and over stillbirths globally each year contribute to half of all maternal deaths. Effective intrapartum monitoring could save many these lives also reduce morbidity in survivors. Intermittent fetal heart auscultation is as safe continuous electronic low risk labours. Doppler ultrasound monitor regarded the most promising device resource settings, but its use limited by cost, availability existing devices lack alternative power supply...
Objective To examine the association of prenatal alcohol exposure (PAE) on cognitive abilities and behaviour profiles 4‐year‐old children. Design Prospective cohort study. Setting Cape Town, South Africa. Population A 500 Methods Children from Safe Passage Study, which prospectively collected PAE, were included. Cognition behavioural assessed. with without PAE compared. Mean scores compared, P ≤ 0.05 considered significant. Results adjusted for confounding factors. Main outcome measures The...
Of the 10.6 million child deaths each year, new estimates suggest that 86% are due to an acute illness such as pneumonia, neonatal sepsis, malaria or asphyxia. Many ill babies and children hypoxic should receive oxygen therapy. Clinical signs may either under- overdiagnose hypoxaemia, resulting in death, morbidity wastage. Furthermore too high levels of can damage eyes premature on Pulse oximetry is a good predictor hypoxaemia thus widely used developed world, but costs need for reliable...
Background: The incidence of malignant peripheral nerve sheath tumours (MPNST) in patients with neurofibromatosis 1 (NF1) is significantly higher than that the general population. NF1-associated MPNST occur at a younger age and carry worse prognosis sporadic MPNST.Aim: This case series describes four cases NF1.Setting: study was performed public academic hospital Western Cape province South Africa.Method: Demographics, disease status, histopathology, treatment outcome data were collected...