DiGeorge Syndrome Treatment & Management

  • Author: Erawati V Bawle, MD, FAAP, FACMG; Chief Editor: Harumi Jyonouchi, MD   more...
 
Updated: Aug 11, 2010
 

Medical Care

A multidisciplinary team best cares for these individuals; however, one physician (usually the primary physician) needs to take the lead and provide a medical home for the patient. The primary physician must monitor growth and development. A system-by-system approach gives the best results.

  • Cardiac: Consult cardiologist as needed.
  • Immunologist: Consult an immunologist if absolute lymphopenia is present. Follow the immunologist's recommendations for immunizations. Recent reports indicate that patients with DiGeorge syndrome (DGS) who are clinically stable can safely tolerate live vaccines, including the measles, mumps, and rubella (MMR) and varicella vaccine.
  • Endocrine: If the patient is found to be hypocalcemic, begin calcium supplementation after proper tests (simultaneous serum calcium and serum parathyroid hormone levels) are obtained. Vitamin D supplementation may become necessary.
  • Failure to thrive: Feeding difficulties and failure to thrive are common in these patients, especially in those with significant cleft palates. Occasionally, placement of a nasogastric or gastrostomy tube is necessary for feeding during the first 6-12 months of life. The tube provides adequate nutrition to prevent serious growth failure.
  • Other problems: Patients with other conditions, including developmental delay and psychosis, should receive appropriate care.
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Surgical Care

  • Cardiac: Surgical repair is often necessary to correct the frequently observed cardiac defects.
  • Head and neck: As patients with chromosome 22q11.2 deletion syndrome grow older, correction of hypernasal speech becomes important; this can be performed initially with speech therapy but surgery may be required. Consult a plastic surgeon experienced in treating velopharyngeal incompetence (VPI). Cleft palate, if present, can be repaired as well. Adenoidectomy may worsen the VPI.
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Consultations

Multidisciplinary follow-up care is usually necessary to ensure that these patients receive optimal medical care; the following specialists can be consulted:

  • Geneticist for initial evaluation and genetic counseling: Periodic follow-up consultations are recommended to apprise the family of new developments, to reinforce the counseling and recurrence risk assessment, and to direct the family to resources in the community.
  • Pediatric cardiologist for evaluation and management of cardiac disease
  • Pediatric cardiothoracic surgeons when patient requires cardiac surgery
  • Craniofacial specialist for treatment of patients with cleft palate and feeding difficulties
  • Otolaryngologist when recurrent otitis media occurs
  • Immunologist for evaluation of immune function
  • Pediatric endocrinologist for evaluation and management of hypocalcemia
  • Psychologist and other specialists based on the organ system involved
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Diet

No special diet is indicated. Tube feeding may be indicated when feeding problems are severe.

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Activity

Activity restrictions depend on the nature and severity of the cardiac defect.

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Contributor Information and Disclosures
Author

Erawati V Bawle, MD, FAAP, FACMG  Retired Professor, Department of Pediatrics, Wayne State University School of Medicine

Erawati V Bawle, MD, FAAP, FACMG is a member of the following medical societies: American College of Medical Genetics and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

C Lucy Park, MD  Head, Division of Allergy, Immunology, and Pulmonology, Associate Professor, Department of Pediatrics, University of Illinois at Chicago

C Lucy Park, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Medical Association, Chicago Medical Society, Clinical Immunology Society, and Illinois State Medical Society

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

John Wilson Georgitis, MD  Consulting Staff, Lafayette Allergy Services

John Wilson Georgitis, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association for the Advancement of Science, American College of Chest Physicians, American Lung Association, American Medical Writers Association, and American Thoracic Society

Disclosure: Nothing to disclose.

David Pallares, MD  Clinical Assistant Professor, Department of Pediatrics, Division of Allergy and Immunology, University of Louisville

David Pallares, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology

Disclosure: Nothing to disclose.

Chief Editor

Harumi Jyonouchi, MD  Associate Professor, Division of Pulmonary Allergy/Immunology and Infectious Diseases, Department of Pediatrics, UMDNJ-New Jersey Medical School

Harumi Jyonouchi, MD is a member of the following medical societies: American Academy of Allergy Asthma and Immunology, American Academy of Pediatrics, American Association of Immunologists, American Medical Association, Clinical Immunology Society, New York Academy of Sciences, Society for Experimental Biology and Medicine, Society for Mucosal Immunology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

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