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

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*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number100924
JournalGenetics in Medicine
Issue number10
StatePublished - Oct 2023


  • 22q11.2DS
  • Medical burden scale
  • Quality of life


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