2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Its time to listen to the families; a disease concept model for Gould Syndrome.

Pdf Summary

Gould Syndrome is a rare and progressive disorder caused by mutations in genes COL4A1 and COL4A2, which are important in the formation of the basement membrane. The Gould Syndrome Foundation created a patient registry to better understand the needs of individuals with this condition. The registry found that many individuals in the cohort reported a history of stroke, but only a small percentage received education on stroke identification. This highlights a gap between the information provided by healthcare providers and what caregivers identify as important.<br /><br />The aims of the current study were to identify and assess the range of symptoms experienced by individuals with Gould Syndrome and how these symptoms affect their daily life and care. The study found that gastrointestinal issues were particularly significant, with a high percentage of participants reporting constipation, gastroesophageal reflux disease, and feeding disorders. However, no patients were referred to gastroenterologists.<br /><br />Families affected by Gould Syndrome expressed a desire for information on specialists to see, healthcare providers knowledgeable about the disease, and resources provided at diagnosis. A disease concept model was developed to describe the relationship between symptoms, concerns, and their impact on daily life and care. This model incorporates the aspects that caregivers and patients deem most important.<br /><br />The study also identified three themes: caregivers taking on the role of educator, a lack of resources following diagnosis, and feelings of isolation in community groups due to the variability of the syndrome.<br /><br />The study included interviews with caregivers of individuals with COL4A1/COL4A2-related disorders. Most caregivers had a child diagnosed with COL4A1 as an infant, and most of the variants in the sample were de novo.<br /><br />In conclusion, this study shed light on the needs and experiences of individuals with Gould Syndrome and their caregivers. It highlighted the importance of addressing the information gap between healthcare providers and caregivers and the need for continued education and resources for this rare disease.

Asset Subtitle

Submitter Only - Erica Schindewolf, MS; Presenting Author - Anna Duemler, BS; Co-Author - Ana Cristancho, MD; Co-Author - Stacey Cohen, MS, CGC; Co-Author - Kathy Valverde, Phd, MS;

Meta Tag

Clinical History

Counseling

Education

Eye disorders

Intellectual disability

Prenatal Diagnosis

Psychosocial Counseling Issues

Psychosocial Issues

Co-Author Ana Cristancho, MD

Co-Author Stacey Cohen, MS, CGC

Co-Author Kathy Valverde, Phd, MS

Presenting Author Anna Duemler, BS

Submitter Only Erica Schindewolf, MS

Keywords

Gould Syndrome

mutations

COL4A1

COL4A2

patient registry

stroke

gastrointestinal issues

caregivers

disease concept model

rare disease