Pediatric healthcare costs for patients with 22q11.2 deletion syndrome.

Peter Benn,Sushma Iyengar,Evanette K Burrows,Zachary Demko,Elaine H Zackai,Terrence Blaine Crowley,Kathleen E Sullivan,Solomon Moshkevich,Donna M Mcdonald‐Mcginn

doi:10.1002/mgg3.310

Abstract

BackgroundThe 22q11.2 deletion syndrome is a variably expressed disorder that can include cardiac, palate, and other physical abnormalities, immunodeficiency, and hypocalcemia. Because of the extreme variability in phenotype, there has been no available estimate of the total medical expenditure associated with the average case.MethodsWe have developed a model to estimate the cost from the time of diagnosis to age 20. Costs were based on patients seen at a specialty center but also considered those components of care expected to have been provided by external healthcare facilities. Expense was based on billed medical charges extracted from the electronic medical billing system for all patients with a diagnosis of DiGeorge or velocardiofacial syndrome from 1993–2015. Expenditures included maternal prenatal care directly related to an affected pregnancy, molecular/cytogenetic diagnosis, consultations, surgery, and/or other treatment and management. Most mental health services (except inpatient), therapy related to cognitive, behavioral, speech, pharmacy, and nonmedical costs (special education, vocational, respite, lost earnings) were not included.ResultsData were available for 642 patients with 50.7% diagnosed prenatally or in the first year of life. The average cost for a patient was $727,178. Costs were highest for patients ascertained prenatally ($2,599,955) or in the first year of life ($1,043,096), those with cardiac abnormalities or referred for cardiac evaluation ($751,535), and patients with low T‐cell counts ($1,382,222).ConclusionThis study demonstrates that there are significant medical costs associated with 22q11.2 deletion syndrome.

Highlights

The most common clinically significant microdeletion in the human genome lies within a 3 Mb region on chromosome 22 and results in the “22q11.2 deletion syndrome” (Wou et al 2016)
This study demonstrates that there are significant medical costs associated with 22q11.2 deletion syndrome
Healthcare Costs for 22q11.2 Deletion Syndrome encompasses some of the same genes), a remarkable characteristic of this disorder is the considerable variability in both the types of abnormalities that may be present and their severity (McDonald-McGinn et al 2015)

Summary

Introduction

The most common clinically significant microdeletion in the human genome lies within a 3 Mb region on chromosome 22 and results in the “22q11.2 deletion syndrome” (Wou et al 2016). This disorder has been previously known as DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, autosomal dominant Opitz G/BBB syndrome, Sedlackova syndrome, or Cayler cardiofacial syndrome (McDonald-McGinn et al 1993). Some of the more common physical findings include cardiac defects, palatal abnormalities, immune deficiencies, hypocalcemia, gastrointestinal, skeletal, and renal anomalies (McDonaldMcGinn et al 1993). The 22q11.2 deletion syndrome is a variably expressed disorder that can include cardiac, palate, and other physical abnormalities, immunodeficiency, and hypocalcemia. Because of the extreme variability in phenotype, there has been no available estimate of the total medical expenditure associated with the average case

Methods

Results

Conclusion