TY - JOUR
T1 - The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning
AU - Matalon, Noam
AU - Shani, Shachar
AU - Weinberger, Ronnie
AU - Serur, Yaffa
AU - Somech, Raz
AU - Givon, Uri
AU - Katz, Uriel
AU - Levy-Shraga, Yael
AU - Carmel, Eldar
AU - Weiss, Batia
AU - Ben-Zeev, Bruria
AU - Hochberg, Yehonathan
AU - Gur, Raquel E.
AU - Gothelf, Doron
N1 - Publisher Copyright:
© 2023 American College of Medical Genetics and Genomics
PY - 2023/10
Y1 - 2023/10
N2 - Purpose: To date, there is no systematic method to quantify the medical burden of individuals with 22q11.2 deletion syndrome (22q11.2DS). This study aimed to design a Medical Burden Scale for 22q11.2DS to evaluate the effect of medical symptoms severity on quality of life (QoL) and functioning in individuals with this syndrome. Methods: Individuals with 22q11.2DS (n = 76) were included in the study. A multidisciplinary group of physicians determined the severity of symptoms (on a scale of 0 to 4) of 8 major medical systems affected in 22q11.2DS, as well as the level of cognitive deficits and psychiatric morbidity. Regression models were used to evaluate the impact of medical, cognitive, and psychiatric symptoms’ severity on global assessment of functioning (GAF) and QoL. Results: The total Medical Burden Scale score was significantly associated with both QoL and GAF scores, beyond the effect of the psychiatric and cognitive deficits. We also found that QoL and GAF scores were associated with the severity scores of specific medical systems, particularly neurological symptoms, but also cardiovascular, ear-nose-throat, endocrinology, and orthopedics. Conclusion: Quantifying the medical burden of 22q11.2DS individuals is feasible and indicates the overall and specific contribution of medical symptoms to QoL and functioning of 22q11.2DS individuals.
AB - Purpose: To date, there is no systematic method to quantify the medical burden of individuals with 22q11.2 deletion syndrome (22q11.2DS). This study aimed to design a Medical Burden Scale for 22q11.2DS to evaluate the effect of medical symptoms severity on quality of life (QoL) and functioning in individuals with this syndrome. Methods: Individuals with 22q11.2DS (n = 76) were included in the study. A multidisciplinary group of physicians determined the severity of symptoms (on a scale of 0 to 4) of 8 major medical systems affected in 22q11.2DS, as well as the level of cognitive deficits and psychiatric morbidity. Regression models were used to evaluate the impact of medical, cognitive, and psychiatric symptoms’ severity on global assessment of functioning (GAF) and QoL. Results: The total Medical Burden Scale score was significantly associated with both QoL and GAF scores, beyond the effect of the psychiatric and cognitive deficits. We also found that QoL and GAF scores were associated with the severity scores of specific medical systems, particularly neurological symptoms, but also cardiovascular, ear-nose-throat, endocrinology, and orthopedics. Conclusion: Quantifying the medical burden of 22q11.2DS individuals is feasible and indicates the overall and specific contribution of medical symptoms to QoL and functioning of 22q11.2DS individuals.
KW - 22q11.2DS
KW - Medical burden scale
KW - Quality of life
UR - http://www.scopus.com/inward/record.url?scp=85168006913&partnerID=8YFLogxK
U2 - 10.1016/j.gim.2023.100924
DO - 10.1016/j.gim.2023.100924
M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???
C2 - 37422717
AN - SCOPUS:85168006913
SN - 1098-3600
VL - 25
JO - Genetics in Medicine
JF - Genetics in Medicine
IS - 10
M1 - 100924
ER -