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Genomic sequencing in diverse and underserved pediatric populations: parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.
Genet Med
January 2025
Genomics Ethics, and Translational Research Program, RTI International, Research Triangle Park, NC; Department of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR. Electronic address:
Purpose: Limited evidence evaluates parents' perceptions of their child's clinical genomic sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research (CSER) consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap.
Methods: Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure.
Adaptive functioning in children and young adults with monogenic neurodevelopmental disorders.
Dev Med Child Neurol
January 2025
Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Aim: To examine the adaptive behaviour profiles of children with monogenic neurodevelopmental disorders (NDDs) to determine whether syndrome-specific or transdiagnostic approaches provide a better understanding of the adaptive behavioural phenotypes of these NDDs.
Method: This cross-sectional study included parents and caregivers of 243 (48% female) individuals (age range = 1-25 years; mean = 8 years 10 months, SD = 5 years 8 months) with genetically confirmed monogenic NDDs (CDK13, DYRK1A, FOXP2, KAT6A, KANSL1, SETBP1, BRPF1, and DDX3X). Parents and caregivers completed the Vineland Adaptive Behavior Scales, Third Edition to assess communication, daily living, socialization, and motor skills.
Time perception in bipolar disorder: a systematic review.
Acta Neuropsychiatr
January 2025
IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Objective: Time distortions characterise severe mental disorders, exhibiting different clinical and neurobiological manifestations. This systematic review aims to explore the existing literature encompassing experimental studies on time perception in patients with bipolar disorder (BD), considering psychopathological and cognitive correlates.
Methods: Studies using an experimental paradigm to objectively measure the capacity to judge time have been searched for.
An audit of completeness of Road to Health Booklet at a community health centre in South Africa.
Afr J Prim Health Care Fam Med
December 2024
Department of Family Medicine and Primary Health Care, Faculty of Health Sciences, Sefako Makgatho Health Sciences University, Pretoria.
Background: For continuity and quality of care, accurate record-keeping is crucial. Complete care is facilitated by completing a child's Road to Health Booklet (RTHB) as well as prompt interpretation and appropriate action. This could result in a decrease in child morbidity and mortality.
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