The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning.

Jul 10, 2023

Experts: Noam Matalon,Shachar Shani,Ronnie Weinberger,Yaffa Serur,Raz Somech,Uri Givon,Uriel Katz,Yael Levy-Shraga,Eldar Carmel,Batia Weiss,Bruria Ben-Zeev,Yehonathan Hochberg,Raquel E Gur,Doron Gothelf

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 (MBS) for 22q11.2DS to evaluate the effect of medical symptoms severity on quality of life (QoL) and functioning in individuals with this syndrome.
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 eight 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.
The total MBS 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.
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.

Copyright © 2023. Published by Elsevier Inc.

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ABOUT THE EXPERTS

Noam Matalon,Shachar Shani,Ronnie Weinberger,Yaffa Serur,Raz Somech,Uri Givon,Uriel Katz,Yael Levy-Shraga,Eldar Carmel,Batia Weiss,Bruria Ben-Zeev,Yehonathan Hochberg,Raquel E Gur,Doron Gothelf

Noam Matalon

The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel; Behavioral Neurogenetics Center, The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Shachar Shani

Behavioral Neurogenetics Center, The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel.

Ronnie Weinberger

The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel; Behavioral Neurogenetics Center, The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Yaffa Serur

The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel; Behavioral Neurogenetics Center, The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel.

Raz Somech

The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Uri Givon

The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Uriel Katz

The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Yael Levy-Shraga

The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Eldar Carmel

The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Batia Weiss

The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Bruria Ben-Zeev

The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Yehonathan Hochberg

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Raquel E Gur

Department of Psychiatry, University of Pennsylvania, Philadelphia, PA, USA.

Doron Gothelf

The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel; Behavioral Neurogenetics Center, The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: gothelf@tauex.tau.ac.il.