Genetics in medicine : official journal of the American College of Medical Genetics · 2025
Longitudinal outcomes in Noonan syndrome.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Rippert Alyssa L, Reef Rebecca, Mani Ashika, Stefanatos Arianna K, Ahrens-Nicklas Rebecca C
Аннотация
PURPOSE: Noonan syndrome and related disorders (NS) are multisystemic conditions affecting approximately 1:1000 individuals. Previous natural history studies were conducted before widespread comprehensive genetic testing. This study provides updated longitudinal natural history data in participants with molecularly confirmed NS.
METHODS: Comprehensive medical, developmental, and health care utilization (HCU) data were abstracted from the medical records of participants with molecularly confirmed NS. Primary outcomes included developmental outcomes, classroom setting, and HCU.
RESULTS: A total of 172 patients with molecularly confirmed NS were followed for 1142.2 patient-years total. An average of 3.7 affected organ systems on initial evaluation. Sitting, walking, and talking in two-word phrases all occurred earlier than in previous cohorts (P = .003, P = .001, and P < .0001, respectively). Genotype influenced the age at milestones and classroom setting; feeding difficulties also influenced the age at milestones. HCU was significantly higher in patients with NS compared with peers (P < .0001) and highest in infancy and adolescence.
CONCLUSION: Developmental outcomes have improved compared with previous cohorts. Predictors of outcome may identify those at highest risk for developmental delay allowing for appropriate intervention. Children and adolescents with NS have an increased burden of HCU compared with their peers. Multidisciplinary care coordination is needed to decrease medical burden and improve health of patients and families.
METHODS: Comprehensive medical, developmental, and health care utilization (HCU) data were abstracted from the medical records of participants with molecularly confirmed NS. Primary outcomes included developmental outcomes, classroom setting, and HCU.
RESULTS: A total of 172 patients with molecularly confirmed NS were followed for 1142.2 patient-years total. An average of 3.7 affected organ systems on initial evaluation. Sitting, walking, and talking in two-word phrases all occurred earlier than in previous cohorts (P = .003, P = .001, and P < .0001, respectively). Genotype influenced the age at milestones and classroom setting; feeding difficulties also influenced the age at milestones. HCU was significantly higher in patients with NS compared with peers (P < .0001) and highest in infancy and adolescence.
CONCLUSION: Developmental outcomes have improved compared with previous cohorts. Predictors of outcome may identify those at highest risk for developmental delay allowing for appropriate intervention. Children and adolescents with NS have an increased burden of HCU compared with their peers. Multidisciplinary care coordination is needed to decrease medical burden and improve health of patients and families.