Parental Stress In Tuberous Sclerosis Complex

Author

Jenny DoFollow

Author ORCID Identifier

https://orcid.org/0000-0002-3525-3337

Date of Graduation

5-2022

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Kate Mowrey

Committee Member

Syed Hashmi

Committee Member

Deborah Pearson

Committee Member

Hope Northrup

Committee Member

Laura Farach

Abstract

Tuberous Sclerosis Complex (TSC) is a multi-systemic genetic disorder with great clinical variability. As the needs of one child with TSC may vastly differ from another, parenting demands may similarly differ. Characterizing parental stress, or emotional maladaptation arising from parenting duties, can enable healthcare providers to assist parents of children most efficiently with TSC-related symptoms and improve both parent and child health outcomes. This study surveyed 269 parents of children (aged 0-12 years) with TSC and received the following information: children’s TSC clinical features, parent demographics, and a Parent Stress Index (PSI) score. Parents reported higher stress levels for children with certain skin and ocular TSC features, intractable epilepsy with or without status epilepticus, low adaptive functioning, neuropsychiatric diagnoses (TSC-Associated Neuropsychiatric Disorders; TAND), and parent race and income. These variables accounted for 69% of variability in parent’s PSI scores. Overall, 50% of parents achieved a clinically relevant PSI. Thematic analyses identified stressors consistent with survey findings and noted that parents face uncertainty and a lack of personal or healthcare support as additional stressors. Utilizing this data to improve parent’s healthcare experience can be achieved in multiple methods: improving coordination between counseling and school services with a focus on parent-child interactions, assessing barriers to healthcare or accessing early childhood intervention, and providing psychosocial assessment to all parents with a low threshold for referral to a mental health specialist. These suggestions may efficiently ameliorate parental stress and ultimately improve quality of life for families and patients with TSC.

Keywords

Tuberous Sclerosis Complex, TSC, TAND, Parental stress, Stressors, Genetic Counseling