Date of Submission

2025

Degree Type

Dissertation

Degree Name

Doctor of Psychology (PsyD)

Department Chair

Jessica Glass Kendorski, PhD, NCSP, BCBA-D

First Advisor

George McCloskey, Ph.D

Second Advisor

Richard Allen, Psy.D, NCSP, BCBA-D

Third Advisor

Maria DiDonato, Psy.D

Abstract

Advancements in genetic testing have led to the identification of many rare genetic conditions, yet comprehensive knowledge of their broader impacts remains limited. Most existing research focuses narrowly on medical outcomes. Cardiospondylocarpofacial Syndrome (CSCF) is an ultra-rare genetic condition for which little is known beyond its physical manifestations. This descriptive case series study examined the behavioral, social, emotional, and academic functioning of eight school-aged children diagnosed with CSCF, as well as the experiences of their families. Participants were recruited from North America, Europe, and Australia via a private Facebook group. Data were collected through an open-ended, written questionnaire completed by parents. All children experienced developmental delays and ongoing health issues requiring medical treatment and therapy. While few had formal mental health or behavioral diagnoses, several exhibited challenges with attention, activity regulation, and anxiety. Socially, most children demonstrated resilience, with relatively few peer-related concerns. Educationally, several children required classroom supports, though many were described as capable and engaged learners. Family experiences varied, particularly regarding support from medical professionals and social networks. A consistent theme was the uncertainty faced by families due to the limited availability of information about CSCF. Despite limitations, this study highlights the critical need for expanded research into the developmental and psychosocial dimensions of rare genetic conditions such as CSCF.

Download

Share

COinS