It has been two years since we shared the previous version of this major document. There are two versions:
What is the content of those guides ?
Those guides were developed by expert clinicians worldwide, recruited by the 22q11.2 Society, to revise the original clinical practice guidelines for adults in a stepwise process according to best practices. It entails a synthesis of a systematic literature search and a formulation of consensus recommendations based on the literature and further shaped by patient advocate survey results.
These recommendations provide guidance for the recognition, evaluation, surveillance, andmanagement of the many emerging and chronic 22q11.2DS-associated multisystemmorbidities, among which: neuropsychiatric manifestations, schizophrenia, cognitive and adaptive functioning, seizures, endocrine issues, immune deficits or cardiovascular manifestations.The recommendations also address key genetic counseling and psychosocial considerations for the increasing numbers of patients with this complex condition.
Why is it crucial to make 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.