Personalized medical information card for adults with 22q11.2 deletion syndrome: An initiative to improve communication between patients and healthcare providers

Abstract

22q11.2 deletion syndrome (22q11.2DS) is an under-recognized multisystem genetic condition, affecting an estimated 1 in 3,000 live births, and is associated with physical and mental health manifestations including but not limited to congenital heart disease (CHD), hypocalcaemia, hypothyroidism, seizures, anxiety disorders and schizophrenia (Bassett et al., 2011; McDonald-McGinn et al., 2015). Mild intellectual disability is present in approximately 30%-40% of individuals with 22q11.2DS (reviewed in Fung et al., 2015). Many affected individuals need specialized care from multiple medical professionals throughout their lives. Young to middle-aged adults