Home Global guidelines One of the most important Practical guides for managing adults with 22q11

One of the most important Practical guides for managing adults with 22q11

This is one of the most important publications giving practical guidelines for managing adults with 22q11.2 deletion syndrome.

Of the necessity of a comprehensive guide

The phenotypes associated with 22q11.2DS are highly variable in number and severity, which presents a significant diagnostic challenge to clinicians. For this reason, many adults with a 22q11.2 deletion remain undiagnosed. This is the greatest barrier to understanding the full spectrum of the condition, including course and outcome, and thus to providing the optimal anticipatory care that promises improved symptom management, quality of life, and functioning.

Widespread use of genome-wide genetic diagnostic technologies, declining infant mortality with advances in pediatric surgery and care, nonzero reproductive fitness, and a 50% recurrence risk in 22q11.2DS predict a growing population of (diagnosed and undiagnosed) adults with 22q11.2DS.

More information about adult outcomes in 22q11.2DS is urgently needed to assist accurate genetic counseling and to improve care and service planning. Publishing and sharing scientific information are of utmost importance to raise awareness with the public and with health practitioners.

Content of the guide

This guide contains essential information and practical guidelines about the most frequent phenotypes in 22q11, among which: neuropsychiatric manifestations, schizophrenia, cognitive and adaptive functioning, seizures, endocrine issues, immune deficits or cardiovascular manifestations.