Canadian Medical Association Journal, Год журнала: 2024, Номер 196(37), С. E1267 - E1268
Опубликована: Ноя. 3, 2024
KEY POINTS Advances in pediatric care have led to improved survival and the emergence of models for children with complex chronic conditions,[1][1] including those associated neurodevelopmental conditions. Data suggest that these patients comprise less than 1% but account
Язык: Английский
Canadian Medical Association Journal, Год журнала: 2025, Номер 197(5), С. E145 - E147
Опубликована: Фев. 9, 2025
[Voir la version anglaise de l'article ici : www.cmaj.ca/lookup/doi/10.1503/cmaj.240782][1] Points clés Les avancées réalisées en soins pédiatriques ont permis d'améliorer le taux survie et conduit à l'émergence modèles pour les enfants ayant des problèmes sant
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npj Genomic Medicine, Год журнала: 2025, Номер 10(1)
Опубликована: Фев. 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.
Язык: Английский
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Journal of Neurodevelopmental Disorders, Год журнала: 2025, Номер 17(1)
Опубликована: Апрель 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.
Язык: Английский
Процитировано
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Annals of Clinical and Translational Neurology, Год журнала: 2024, Номер unknown
Опубликована: Ноя. 2, 2024
Abstract Objective There is a growing number of monogenic disorders implicated in neurodevelopmental (NDDs), including autism spectrum disorder and intellectual disability. Motor impairment frequently seen these disorders, although not clearly defined. We aimed to characterize the motor phenotype genetic NDDs. Methods analyzed data from Simons Searchlight, collecting information on patients with Data included Vineland Adaptive Behavior Scales Second Edition (Vineland‐II) standard scores, milestones tone abnormalities. Results In total, 959 57 were included. Disorders associated Vineland‐II score <56 GRIN2B ‐related (mean = 53.5), HNRNPH2 55.8) SCN2A 49.9). The only condition mean age sitting unsupported ≥18 months was GRIN1 26.3 months). Genetic conditions walking independently ≥36 CTNNB1 37.4 months) 41.9 Tone abnormalities hypotonia 83% (577/696), hypertonia 16% (112/696), diagnosis cerebral palsy (CP) 10% (73/696) specifically spastic CP 3% (23/696). Interpretation Patients NDDs have impairment, which warrant further characterization.
Язык: Английский
Процитировано
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Canadian Medical Association Journal, Год журнала: 2024, Номер 196(37), С. E1267 - E1268
Опубликована: Ноя. 3, 2024
KEY POINTS Advances in pediatric care have led to improved survival and the emergence of models for children with complex chronic conditions,[1][1] including those associated neurodevelopmental conditions. Data suggest that these patients comprise less than 1% but account
Язык: Английский
Процитировано
0