The Transmitter, Journal Year: 2024, Volume and Issue: unknown
Published: Jan. 1, 2024
Language: Английский
npj Genomic Medicine, Journal Year: 2025, Volume and Issue: 10(1)
Published: Feb. 27, 2025
Advances in genomic technologies have revolutionized the diagnosis of rare genetic diseases, leading to emergence precision therapies. However, there remains significant effort ahead ensure promise medicine translates improved outcomes. Here, we discuss challenges advancing child health and highlight how international collaborations such as International Precision Child Health Partnership, which embed research into clinical care, can maximize benefits for children globally.
Language: Английский
Citations
0
Journal of Neurodevelopmental Disorders, Journal Year: 2025, Volume and Issue: 17(1)
Published: April 24, 2025
Abstract Objective Hundreds of rare genetic variants associated with autism or intellectual disability have been identified, and many impact genes known to a primary epigenetic/chromatin regulatory function. The objective this study was examine compare behavioural profiles longitudinal psychotropic treatment patterns in children variants, other impacting neurodevelopment, no condition. Methods Using electronic medical records from pediatric psychopharmacology program for disability, we compared clinical characteristics, medication side effects between those without variant, by variant subtype [epigenetic/chromatin regulation variant]. Results A total 331 attended 2724 unique visits 2019 2022, mean 8 follow-up over 3.4 years. Nine (3%) had (EC), twenty-three (7%) (OTH), the rest reported (NR, n = 299, 90%). Those (EC OTH) were more likely an greater number co-occurring physical health conditions ( p < 0.01). Overall, 66% medications continued ≥ 3 visits, while 26% discontinued. Rates polypharmacy, patterns, challenges, developmental diagnoses similar groups. Analyses uncorrected multiple comparisons suggested experience drowsiness/sedation as effect 33%, OTH 35%, NR 16%, 0.05); weight gain also higher group 50% vs 11%). Conclusion Genetic classification neurodevelopmental disorders (NDDs) may help anticipate tolerability; additional prescribing considerations be needed variants. Current practices do not differ across NDD subgroups.
Language: Английский
Citations
0
Molecular Psychiatry, Journal Year: 2024, Volume and Issue: unknown
Published: Aug. 30, 2024
Language: Английский
Citations
3
Pediatric Research, Journal Year: 2024, Volume and Issue: unknown
Published: Oct. 22, 2024
Abstract Newborn genomic sequencing (NBSeq) has the potential to substantially improve early detection of rare genetic conditions, allowing for pre-symptomatic treatment optimize outcomes. Expanding conceptions clinical utility NBSeq include earlier access behavioral intervention support acquisition core motor, cognitive, communication, and adaptive skills during critical windows in development. However, important questions remain about equitable programs growing number infants identified with a condition via NBSeq. We review current public health, clinical, research landscape, highlight ongoing international efforts collect population-level data on healthy newborns. then explore challenges facing specific Early Intervention (EI) system—the US federally supported “Part C” system—for meeting developmental needs young children diagnoses, including structural limitations related funding, variable eligibility criteria, lack collaboration newborn screening programs. conclude set guide future at intersection NBSeq, screening, EI, which once answered, can steer policy ensure that EI service systems optimally impacted by broader implementation Impact Existing literature benefits genome newborns tends focus provision medical interventions, less attention very conditions. This outlines diagnosed conditions infancy describes strengths United States system (IDEA Part C) those needs.
Language: Английский
Citations
1
The Transmitter, Journal Year: 2024, Volume and Issue: unknown
Published: Jan. 1, 2024
Language: Английский
Citations
0