Variability in Clinical and Anatomical Manifestation of Velocardiofacial Syndrome Presents Diagnostic and Policy Uncertainty

ABSTRACT

Objective: This study examined the complexity and myriad clinical manifestations and expressions of velocardiofacial syndrome (VCFS). It aimed to determine if VCFS invariably met the three disability criteria for the Compassionate Allowance List (CAL) program administered by the Social Security Administration (SSA). Methods: A systematic evaluative review of the literature found in 10 academic databases was completed. Inclusion criteria of the search terms yielded 1,383 initial manuscripts. Only 77 of articles met higher-level inclusion criteria of explicit statements reporting observed severity of symptoms and disability that this study used as evidence. The three SSA CAL criteria include duration, severity, and impact of employment. The analysis systematically reviewed papers with the objective of determining if they met one, two, or all three of the SSA CAL criteria. Results The first criteria for the CAL require a condition to last beyond 12 months. From the 77 articles that met inclusion criteria, a total of 21 articles reported explicit statements that evidenced symptoms that were limited to the first criteria only. The second CAL criteria required that a condition also has negative impact on quality of life or death. Forty-nine articles demonstrated the first and second criteria, duration ≥12 months plus a negative impact on quality of life or death. The third criteria required that the condition prevents substantial gainful employment as well as duration ≥12 months plus a negative impact on quality of life or death. A total of seven articles reported all three criteria. Conclusions: The variability of symptoms related to VCFS makes it impossible to assert that all cases will meet the criteria for disability entitlements.

KEYWORDS:

• 22q11.2 deletion syndrome
• velocardiofacial syndrome
• schizophrenia
• intellectual disability
• DiGeorge syndrome
• Social Security Administration

Declaration of interest

The research reported herein was performed pursuant to a grant from Policy Research, Inc. as part of the U.S. Social Security Administration's (SSA's) Improving Disability Determination Process Small Grant Program. The opinions and conclusions expressed are solely those of the author(s) and do not represent the opinions or policy of Policy Research, Inc., SSA or any other agency of the Federal Government.