Date of Award

Fall 10-31-2023

Degree Type

Dissertation

Degree Name

PhD Health Sciences

Department

Health and Medical Sciences

Advisor

Genevieve Zipp, EdD

Advisor

Genevieve Zipp, EdD

Committee Member

Michelle D’Abundo, PhD

Committee Member

Jennifer Bain, PhD

Keywords

HNRNPH2, Neurodevelopmental, person centered care, grounded theory

Abstract

Introduction: Neurodevelopmental disorders are a group of conditions that start in childhood and lead to impairments in functioning. HNRNPH2-related neurodevelopmental disorder is an ultra-rare disorder in which individuals present with cognitive, behavioral, language and motor function impairments that often leads to reliance on their caregivers. Existing conceptual models of neurodevelopment are not specific to this ultra rare disorder and do not highlight the caregiver impact of living with HNRNPH2-related neurodevelopmental disorder.

Purpose: The purpose of this study is to understand the caregiver perspective on the everyday functioning of people living with HNRNPH2-related neurodevelopmental disorder to generate a person-centered conceptual model.

Methods: Semi-structured interviews with twenty caregivers of individuals with HNRNPH2-related neurodevelopmental disorder were conducted. The interviews were transcribed verbatim and analyzed using thematic analysis. An initial conceptual model was developed using an adapted grounded theory framework.

Results: Twenty primary caregivers including 14 female caregivers and 6 male caregivers of females with HNRNPH2-related neurodevelopmental disorder living in 9 countries: United Kingdom (35%); United States (30%); Netherlands (10%); Denmark, France, Norway, Portugal, and Switzerland (each 5%) were interviewed. The defining concepts of the condition include cognition, communication, neurological, behavioral, visual, musculoskeletal/orthopedics, gastrointestinal and others. Individuals with HNRNPH2-related neurodevelopmental disorder have impacts on daily functioning including proximal impacts (activities), distal impacts (participation), and modifiers including personal and external factors. In light of caregiver’s major role in supporting the everyday functioning of individuals with HNRNPH2 a conceptual disease model was developed from the study data diagraming the defining concepts or symptoms, impacts on people living with HNRNPH2-related neurodevelopmental disorder and caregiver impacts.

Practical Implications: This study highlights the unique features of HNRNPH2-related neurodevelopmental disorder impacting the everyday functioning of those living with the condition and impact on their caregivers. The person-centered conceptual model can be implemented by families to describe key features of the condition and their child’s current level of function; by clinicians and advocates to develop practical care consideration guidelines and policies; and by researchers to develop person centered assessments and treatments specifically for relevant and meaningful functions of individuals with HNRNPH2-related neurodevelopmental disorder.

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