Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) syndrome DOI Creative Commons
Hannah M. Rea, Sara Jane Webb, Evangeline C. Kurtz‐Nelson

et al.

Frontiers in Neuroscience, Journal Year: 2025, Volume and Issue: 18

Published: Jan. 7, 2025

DYRK1A, a protein kinase located on human chromosome 21, plays role in postembryonic neuronal development and degeneration. Alterations to DYRK1A have been consistently associated with cognitive functioning neurodevelopmental disorders (e.g., autism, intellectual disability). However, the broader behavioral phenotype of syndrome requires further characterization. Specifically, executive functioning, or processes that are necessary for goal-directed behavior, has not yet characterized this population. Individuals variants (n = 29; ages 4 21 years) were assessed standardized protocol multiple measures functioning: Delis-Kaplan Executive Function Schedule, chronologically age-appropriate caregiver-report forms Behavior Rating Inventory (BRIEF) Achenbach System Empirically Based Assessment (ASEBA). We first examined feasibility appropriateness established among participants inform selection tools future research. then group, including associations other phenotypic features. Neurocognitive assessments deemed infeasible due verbal functioning. Caregiver-report revealed elevated concerns related self-monitoring, working memory, planning/organization BRIEF, attention ADHD CBCL. Only two had existing diagnoses; however, 5 (out 10 data) exceeded cutoff 13 individuals 27 ASEBA subscale, 18 subscale. There was concordance between diagnosis ASEBA, but BRIEF. correlated nonverbal IQ autism traits. Objective needed disability who and/or motor limitations. Diagnostic overshadowing, tendency attribute all problems leave co-existing conditions, such as challenges ADHD, undiagnosed, is common. Phenotypic characterization therefore important our understanding ensuring caregivers' addressed, receive clinical services best meet their needs.

Language: Английский

Characterizing executive functioning and associated behaviors in individuals with dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) syndrome DOI Creative Commons
Hannah M. Rea, Sara Jane Webb, Evangeline C. Kurtz‐Nelson

et al.

Frontiers in Neuroscience, Journal Year: 2025, Volume and Issue: 18

Published: Jan. 7, 2025

DYRK1A, a protein kinase located on human chromosome 21, plays role in postembryonic neuronal development and degeneration. Alterations to DYRK1A have been consistently associated with cognitive functioning neurodevelopmental disorders (e.g., autism, intellectual disability). However, the broader behavioral phenotype of syndrome requires further characterization. Specifically, executive functioning, or processes that are necessary for goal-directed behavior, has not yet characterized this population. Individuals variants (n = 29; ages 4 21 years) were assessed standardized protocol multiple measures functioning: Delis-Kaplan Executive Function Schedule, chronologically age-appropriate caregiver-report forms Behavior Rating Inventory (BRIEF) Achenbach System Empirically Based Assessment (ASEBA). We first examined feasibility appropriateness established among participants inform selection tools future research. then group, including associations other phenotypic features. Neurocognitive assessments deemed infeasible due verbal functioning. Caregiver-report revealed elevated concerns related self-monitoring, working memory, planning/organization BRIEF, attention ADHD CBCL. Only two had existing diagnoses; however, 5 (out 10 data) exceeded cutoff 13 individuals 27 ASEBA subscale, 18 subscale. There was concordance between diagnosis ASEBA, but BRIEF. correlated nonverbal IQ autism traits. Objective needed disability who and/or motor limitations. Diagnostic overshadowing, tendency attribute all problems leave co-existing conditions, such as challenges ADHD, undiagnosed, is common. Phenotypic characterization therefore important our understanding ensuring caregivers' addressed, receive clinical services best meet their needs.

Language: Английский

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