TY - JOUR
T1 - Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG)
T2 - a quantitative study using the brief resilience coping scale (BRCS)
AU - Poejo, Joana
AU - Gomes, Ana Isabel
AU - Granjo, Pedro
AU - dos Reis Ferreira, Vanessa
N1 - Funding Information:
We would like to express our deepest gratitude for the invaluable financial support received from collective donations made by families affected by CDG and professionals in the field. Furthermore, we wish to acknowledge the substantial commitment of voluntary time given by numerous members from the CDG & Allies-PPAIN. Their dedication and collaboration were instrumental in the completion of this work. Their collective support, both financial and voluntary, underpins the success of this research, and for that, we are profoundly thankful. Also, we want to thank Carlota Pascoal for her valuable insights in addressing reviewers' comments and for the final revision of the manuscript.
Publisher Copyright:
© The Author(s) 2024
PY - 2024/12
Y1 - 2024/12
N2 - Background: Patients and family caregivers living with Congenital Disorders of Glycosylation (CDG) experience a heavy burden, which can impact their resiliency and quality of life. The study’s purpose was to measure the resilience levels of patients and family caregivers living with CDG using the brief resilience coping scale. Methods: We conducted an observational, cross-sectional study with 23 patients and 151 family caregivers living with CDG. Descriptive analyses were performed to characterize patients with CDG and family caregivers’ samples. Additionally, we assessed correlations between resilience and specific variables (e.g., age, academic degree, time until diagnosis) and examined resilience differences between groups (e.g., sex, marital status, occupation, professional and social support). Results: GNE myopathy was the most prevalent CDG among patients, while in family caregivers was PMM2-CDG. Both samples showed medium levels of resilience coping scores. Individuals with GNE myopathy had significantly higher scores of resilience compared to patients with other CDG. Resilience was positively correlated with educational degree in patients with CDG. Family caregivers had marginally significant higher scores of resilience coping if they received any kind of professional support or had contact with other families or people with the same or similar disease, compared with unsupported individuals. Conclusions: Despite the inherited difficulties of living with a life-threatening disease like CDG, patients and family caregivers showed medium resilient coping levels. Resilience scores changed significantly considering the CDG genotype, individual's academic degree and professional and social support. These exploratory findings can empower the healthcare system and private institutions by promoting the development of targeted interventions to enhance individuals` coping skills and improve the overall well-being and mental health of the CDG community.
AB - Background: Patients and family caregivers living with Congenital Disorders of Glycosylation (CDG) experience a heavy burden, which can impact their resiliency and quality of life. The study’s purpose was to measure the resilience levels of patients and family caregivers living with CDG using the brief resilience coping scale. Methods: We conducted an observational, cross-sectional study with 23 patients and 151 family caregivers living with CDG. Descriptive analyses were performed to characterize patients with CDG and family caregivers’ samples. Additionally, we assessed correlations between resilience and specific variables (e.g., age, academic degree, time until diagnosis) and examined resilience differences between groups (e.g., sex, marital status, occupation, professional and social support). Results: GNE myopathy was the most prevalent CDG among patients, while in family caregivers was PMM2-CDG. Both samples showed medium levels of resilience coping scores. Individuals with GNE myopathy had significantly higher scores of resilience compared to patients with other CDG. Resilience was positively correlated with educational degree in patients with CDG. Family caregivers had marginally significant higher scores of resilience coping if they received any kind of professional support or had contact with other families or people with the same or similar disease, compared with unsupported individuals. Conclusions: Despite the inherited difficulties of living with a life-threatening disease like CDG, patients and family caregivers showed medium resilient coping levels. Resilience scores changed significantly considering the CDG genotype, individual's academic degree and professional and social support. These exploratory findings can empower the healthcare system and private institutions by promoting the development of targeted interventions to enhance individuals` coping skills and improve the overall well-being and mental health of the CDG community.
KW - Brief resilience coping scale (BRCS)
KW - Congenital disorders of glycosylation (CDG)
KW - Mental health
KW - Rare diseases
KW - Resilience
UR - http://www.scopus.com/inward/record.url?scp=85186844027&partnerID=8YFLogxK
U2 - 10.1186/s13023-024-03043-x
DO - 10.1186/s13023-024-03043-x
M3 - Article
C2 - 38439013
AN - SCOPUS:85186844027
SN - 1750-1172
VL - 19
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
IS - 1
M1 - 98
ER -
