Date of Award

Spring 2026

Document Type

Open Access Thesis

Department

Genetic Counseling

First Advisor

Aubrey Rose

Abstract

Angelman syndrome (AS) is a neurogenetic disorder characterized by significant developmental and cognitive impairments, disruptive behaviors, and a hallmark happy demeanor. Past studies have shown that certain features of AS contribute to increased parental stress. Other studies report that in general the stress of parents of children with disabilities is influenced by stereotypical gender roles surrounding factors including daily care taking tasks, financial responsibility, and medical care involvement. This study aimed to compare perspectives among mothers and fathers of individuals with AS to identify discrepancies and themes relating to stress, specific hardships, and caregiving roles. Parents of children with AS were recruited online through the LADDER Learning Network and Angelman Syndrome Foundation (ASF) and surveyed via REDCap using the Parental Stress Scale (PSS) and open-ended questions. Semi-structured interviews were conducted with elective participants. Thirty-four of the 56 survey responses, 30 mothers and four fathers, met inclusion requirements for analysis and four participants, three mothers and one father, completed semi-structured phone interviews. Quantitative data was analyzed through comparative statistics, and themes were developed from qualitative data. There was not a statistically significant difference in the stress levels of mothers compared to fathers (p>0.05). Stress level did not differ significantly based on marital status, education level, or the child’s genotype. However, the level of parental stress did differ significantly with the number of reported features displayed by the child. Mothers and fathers generally expressed different perspectives surrounding equal caregiving responsibilities, specific stressors, and areas for increased support needs. Both groups reported employment changes and increased feelings of stress, anxiety, and isolation. The reported helpfulness of genetic counselors throughout their child’s journey was variable. More data, particularly from fathers, is needed to determine if there is a significant difference in stress levels compared to mothers. The study’s findings provide additional insight into the perspectives of mothers and fathers of children with AS and highlight various psychosocial and support needs that should be targeted to better serve the AS community.

Rights

© 2026, Katherine Helen Fix

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