Although fragile X syndrome (FXS) is the commonest cause of inherited intellectual disability the mean age of diagnosis in Australia is 5.5 years. Newborn screening for FXS can provide an early diagnosis, preventing the "diagnostic odyssey", allowing access to early interventions, and providing reproductive information for parents. Parents of affected children support newborn screening, but few clinical studies have evaluated community attitudes. A pilot study in 2009-2010 was performed in a tertiary hospital to explore feasibility and maternal attitudes. FXS testing of male and female newborns was offered to mothers in addition to routine newborn screening. Mothers were provided with information about FXS, inheritance pattern, carrier status, and associated adult-onset disorders. One thousand nine hundred seventy-one of 2,094 mothers (94%) consented to testing of 2,000 newborns. 86% completed the attitudinal survey and 10% provided written comments. Almost all parents (99%) elected to be informed of both premutation and full mutation status and there was little concern about identification of carrier status or associated adult-onset disorders. Most mothers (96%) were comfortable being approached in the postnatal period and supported testing because no extra blood test was required. Mothers considered an early diagnosis beneficial to help prepare for a child with additional needs (93%) and for reproductive planning (64%). Some were anxious about the potential test results (10%) and others felt their feelings towards their newborn may change if diagnosed with FXS (16%). High participation rates and maternal attitudes indicate a high level of maternal acceptance and voluntary support for newborn screening for FXS.
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http://dx.doi.org/10.1002/ajmg.a.35752 | DOI Listing |
BMJ Open Ophthalmol
December 2024
Ophthalmology, Royal Hospital for Children, Glasgow, UK.
Background: Very premature infants screened for retinopathy of prematurity (ROP) that do not develop ROP still experience serious visual developmental challenges, and while it is recommended that all children in the UK are offered preschool visual screening, we aimed to explore whether this vulnerable group requires dedicated follow-up.
Methods: We performed a real-world retrospective observational cohort study of children previously screened for ROP in NHS Greater Glasgow and Clyde (Scotland) between 2013 and 2015. We excluded those with any severity of ROP identified during screening.
J Clin Med
December 2024
Department of Neonatology, Faculty of Medicine, Ludwik Rydgier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Ujejskiego 75, 85-168 Bydgoszcz, Poland.
Neonatal sepsis, a severe infection in newborns, remains one of the leading causes of morbidity and mortality among preterm infants. This study aimed to investigate the distribution of pathogens responsible for early-onset sepsis (EOS) and late-onset sepsis (LOS), the annual variability of pathogens responsible for each type of infection, and potential trends in their profiles in preterm infants from a tertiary care neonatal intensive care unit over a ten-year period. We analyzed 177 episodes of confirmed bloodstream infection between 1 January 2014 and 31 December 2023.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, 88100 Catanzaro, Italy.
Pathogenic variants are associated with neonatal epilepsies, ranging from self-limited neonatal epilepsy to -developmental and epileptic encephalopathy (DEE). In this study, next-generation sequencing was performed, applying a panel of 142 epilepsy genes on three unrelated individuals and affected family members, showing a wide variability in the epileptic spectrum. The genetic analysis revealed two likely pathogenic missense variants (c.
View Article and Find Full Text PDFTrends Mol Med
January 2025
MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, OX3 9DU, UK; NIHR Oxford Biomedical Research Centre, Oxford, OX3 9DU, UK; Neuromuscular Centre, Division of Paediatrics, University Hospital of Liège and University of Liège, 4000, Liège, Belgium. Electronic address:
Spinal muscular atrophy (SMA) is a devastating, degenerative, paediatric neuromuscular disease which until recently was untreatable. Discovery of the responsible gene 30 years ago heralded a new age of pioneering therapeutic developments. Three disease-modifying therapies (DMTs) have received regulatory approval and have transformed the disease, reducing disability and prolonging patient survival.
View Article and Find Full Text PDFOphthalmology
January 2025
Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA. Electronic address:
Purpose: To assess the utility of the first or second examinations for retinopathy of prematurity (ROP) in a medium-risk cohort of infants and to propose an optimization to the current ROP screening guidelines.
Design: Retrospective consecutive study.
Subjects: Infants screened for ROP between January 2017 and August 2023 at three different tertiary-level care neonatal intensive care units.
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