22q11.2 Deletion Syndrome - PediaCast 568
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What is 22q11.2 deletion syndrome, and what causes it?
22q11.2 deletion syndrome, often called 22q, is a genetic condition caused by the absence of a small piece of genetic material containing about 30 to 40 genes from the 22nd chromosome. This deletion affects many parts of the body and leads to developmental and behavioral challenges. Historically, it was known as DeGeorge syndrome or Velo-Cardiofacial syndrome before the genetic cause was identified.
How common is 22q11.2 deletion syndrome?
22q11.2 deletion syndrome occurs in about 1 in every 2,000 to 4,000 live births, making it relatively common for a rare genetic disorder.
Is 22q11.2 deletion syndrome inherited?
Most cases of 22q11.2 deletion syndrome are not inherited. The deletion typically occurs as a new genetic change before conception. However, in about 7% of cases, it is inherited from a parent in an autosomal dominant pattern, meaning each child of an affected parent has a 50% chance of inheriting the syndrome.
What are the common symptoms or features of 22q11.2 deletion syndrome?
Common features of 22q11.2 deletion syndrome include congenital heart conditions, immune system abnormalities, endocrine system issues, palatal abnormalities, speech difficulties, developmental delays, and behavioral or psychiatric challenges. The condition affects multiple organ systems, and symptoms can vary widely among individuals.
How is 22q11.2 deletion syndrome diagnosed?
The diagnosis of 22q11.2 deletion syndrome is confirmed through genetic testing, such as a chromosomal microarray analysis, which detects the missing piece of chromosome 22. Historically, diagnosis was based on the constellation of symptoms, but genetic testing now provides definitive confirmation.
What are the treatment and management options for 22q11.2 deletion syndrome?
Management of 22q11.2 deletion syndrome involves a multidisciplinary approach, including referrals to cardiology, immunology, endocrinology, nephrology, and speech therapy. Surgical interventions may be needed for palatal abnormalities, and speech therapy is often required to address communication challenges. Regular monitoring and follow-up are essential to address the various medical and developmental needs of individuals with 22q.
What role does speech therapy play in managing 22q11.2 deletion syndrome?
Speech therapy is crucial for children with 22q11.2 deletion syndrome, as about 90-95% of them require it. Therapy focuses on developing early speech sounds, correcting articulation errors, and improving language skills. For children with velopharyngeal dysfunction (VPD), speech therapy complements surgical interventions to achieve the best speech outcomes.
What are the long-term challenges for individuals with 22q11.2 deletion syndrome?
Individuals with 22q11.2 deletion syndrome face lifelong challenges, including ongoing medical, developmental, and psychological needs. Transitioning from pediatric to adult care is critical, as adults with 22q may require continued support for mental health, vocational training, and social integration. Early planning and coordination with healthcare providers are essential for a smooth transition.
How can families advocate for children with 22q11.2 deletion syndrome?
Families can advocate for their children by educating themselves about 22q, staying in close communication with healthcare providers and schools, and ensuring their child receives comprehensive care, including speech therapy, occupational therapy, and psychological support. Early intervention and consistent follow-up are key to addressing the child's evolving needs.
What resources are available for families affected by 22q11.2 deletion syndrome?
Families can access resources such as the 22Q Center at Nationwide Children's Hospital, which offers comprehensive care, family support programs, and educational events. Organizations like the 22Q Family Foundation also provide valuable information, support networks, and resources for families navigating the challenges of 22q.
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