I participate in a Children’s Healthcare of Atlanta multidisciplinary clinic to help provide care for children with DiGeorge syndrome/22q deletion.  As such, I am interested in a range of issues in these patients.  A recent discovery has been that humoral immunity and not just T-lymphocyte immunodeficiency occurs in a significant number of patients with DiGeorge syndrome (J Pediatr 2012; 161: 950-3).

A cohort of 1023 patients were identified from a number of registries that spanned 21 countries and 40 different contributors. Among this group, 3% were receiving immunoglobulin therapy and 6% over the age of 3 years had hypogammaglobulinemia (IgG <500 mg/dL).

Additional references/resources:

• –Growth charts for 22q: http://www.22q.org/index.php/growth-charts
• -J Pediatr 2011; 159: 332. 22q guidelines.
• -J Pediatr 2009; 155: 560. n=64. 22q11.2 deletion found in <60% of DiGeorge Anomaly pts. DiGeorge Anomaly =(at least 2): congenital heart dz, immune deficiency, hypocalcemia. Also, 86/121 with deletion do not fulfill requirement of anomaly (“syndrome”).
• -Mol Syndromol. 2011 January; 1(4): 192–209. “Introduction: The 22q11.2 deletion syndrome is increasingly recognized in pediatric patients with an incidence of approximately 1 in 3,000. GI manifestations are common and can impact significantly on feeding and growth. To date, there have been few papers on feeding disorders and isolated case reports of various GI anomalies. Methods: A retrospective chart review was conducted on 766 patients with confirmed 22q11.2 deletions followed in the 22q and You Center at CHOP. Data abstracted included GI symptoms, evaluation and management. Results: Average age was 15 years (0.2–62 years). Male:female ratio was 1:1. Ethnic distribution was predominantly Caucasian (67%), Hispanic (33%) and African-American (10%). 32% of patients had no GI symptoms. In patients with GI symptoms, nasopharyngeal reflux, feeding problems, gastroesophageal reflux and constipation were common. Diagnoses included dysmotility (27), intestinal malrotation (7), esophageal diverticula (5), gastroparesis (5), rectal prolapse (2), esophageal atresia (2), gallstones (2), imperforate anus (1), tracheo-esophageal fistula (1), pyloric stenosis (1), choledochal cyst (1), Hirschsprung’s disease (1), and celiac disease (1). About 27% of patients underwent GI testing. Upper GI series and modified barium swallowing study were frequently performed. 5% of patients underwent fundoplication. Feeding tubes were common (27%). Conclusions: Significant GI manifestations are frequent in patients with the 22q11.2 deletion syndrome. Clinicians need to be aware of these conditions to avoid delays in diagnosis. Moreover, all patients with GI symptomatology will benefit from evaluation with a gastroenterologist.”
• -Pediatrics 2003; 112: 101.n=43; 1 in 5950 births. phenotype in 43 pts
• -JPGN 2002; 35: 423 (56 Abstract) DiGeorge syndrome GI manifestations; 6 of 46 c malrotation, dysmotility in 7
• -J Pediatr 2001; 139: 715. DiGeorge immunologic features.

22q Deletions Resources for Families

SUPPORT GROUPS & WEB RESOURCES

1. 22Q Foundation

2. DiGeorge syndrome – Wikipedia, the free encyclopedia

3. Welcome to the Velo-Cardio-Facial Syndrome (VCFS) Educationa

4. DiGeorge Syndrome – American Heart Association

5. Living with 22Q – Dempster Family Foundation

6. Friends of Quinn | Blog | Quinn Bradlee

EDUCATIONAL RESOURCES:

• National Information Center for Children and Youth with Disabilities: nichcy
• Briefing paper: “Questions Often Asked by Parents About Special Education Services” LG1, 4th Edition, September 1999.
• START-to-FINISH Books –reading solutions: Don Johnston Assistive Technology
  1-800-999-4660
• American Speech-Language-Hearing Association: American Speech-Language-Hearing Association | ASHA
• Apraxia-KIDS: Apraxia–KIDS (a program of The Childhood Apraxia of Speech …