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Although more than 180 different medical and clinical problems have been reported for 22Q-VCFS, a handful of recurrent, specific issues faced by patients with 22Q-VCFS require identification and management.
The 22Q-VCFS Center at Cincinnati Children’s offers basic information for healthcare professionals to help them understand and diagnose this complex condition.
Heart defects, especially conotruncal heart defects, are seen in approximately 75 percent of children with 22Q-VCFS. Although some are relatively mild (such as right-sided aortic arch), many defects require early management, which may include surgery. It is estimated that 12 to 15 percent of conotruncal heart defects can be attributed to 22q11.2 deletion syndrome.
Hypocalcemia is caused by hypoplasia or aplasia of the parathyroid glands. Early hypocalcemia is common in children with 22Q-VCFS and requires acute therapy, as some children present with hypocalcemia in the neonatal period. There have also been reports of hypocalcemia in adolescents with 22Q-VCFS who have previously had normal serum calcium levels. Some children with this condition will require long-term calcium supplementation.
Cleft palate and submucous cleft palate are seen in approximately 10 percent of children with 22Q-VCFS. These children require management by a comprehensive center, such as the Craniofacial Center at Cincinnati Children’s. Even in the absence of an anatomic palate abnormality, speech disorders are very common in children with 22Q-VCFS; more than 85 percent of patients are affected. Problems include verbal apraxia, dysarthria and velopharyngeal dysfunction with hypernasality. Treatment of the speech issues, especially velopharyngeal dysfunction, requires experienced and specially trained individuals who can identify and treat these conditions.
The Velopharyngeal Insufficiency (VPI) Clinic and the Division of Speech-Language Pathology at Cincinnati Children’s are both capable of caring for these patients. Approximately 15 percent of children evaluated and treated by the VPI Clinic have 22Q-VCFS, of whom half have not been previously diagnosed with this disorder.
Because of the cleft palate or submucous cleft palate and the oromotor apraxia seen in many infants with 22Q-VCFS, feeding disorders and failure to thrive are common. Many children require specialized feeding interventions including the use of cleft palate bottles, and speech and occupational therapy to treat the feeding issues. In addition, many children will require calorie supplementation for adequate growth.
Click here for referral guidelines for our Feeding Team.
Developmental issues are common in children with 22Q-VCFS. The issues often begin in infancy with hypotonia and feeding disorders. These are followed by speech, language and motor delays in early childhood and school problems, such as learning disabilities and failure. Although most children will require special education, there have been limited cross-sectional and long-term studies to assess the real educational needs of these children and adults. Additionally, because of the specific nature of some of these learning issues and potential psychological and psychiatric problems, there is little information regarding recommendations for vocational training and placement of adults with 22Q-VCFS. Specific learning issues need to be identified to develop appropriate school interventions that will help with long-term vocational training.
Behavior problems, including oppositional defiant behaviors and obsessive compulsive disorder, are common in children with 22Q-VCFS. Many children will be diagnosed with attention deficit hyperactivity disorder (ADHD), often requiring medication. It is also estimated that 25 percent of adults with 22Q-VCFS will be diagnosed with schizophrenia, serious depression, schizoaffective disorder or bipolar illness. There are few long-term studies of children who have developed these disorders, and triggering factors or the effects of early identification are not known.
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