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Building Your Care Team

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Managing 22q11.2 deletion syndrome requires a multidisciplinary care team, typically including a geneticist, cardiologist, immunologist, and endocrinologist. Following a diagnosis, baseline tests like an echocardiogram and immune blood work are essential to guide personalized patient care.

Key Takeaways

  • • The gold standard for managing 22q11.2 deletion syndrome is a collaborative, multidisciplinary care team.
  • • Immediate baseline tests, such as an echocardiogram and renal ultrasound, are required to identify which body systems are affected.
  • • An immunologist must evaluate T-cell counts and immune function before a patient can safely receive live vaccines.
  • • Patients or caregivers should bring a physical copy of the genetic report and international clinical guidelines to their first specialist visits.

Because 22q11.2 deletion syndrome can affect so many different parts of the body, no single doctor can manage it alone. The “gold standard” for care is a multidisciplinary approach, where a team of specialists works together to monitor your or your child’s health [1][2].

If you live near a major hospital, you may find a dedicated 22q Clinic where all these specialists are under one roof. If not, you will need to build your own “virtual team” of doctors who are willing to collaborate [2][3].

The Core Care Team

While not every specialist is needed right away, these are the providers who typically form the “core” of a 22q care team:

  • Geneticist / Genetic Counselor: Explains the genetic report, guides family testing, and coordinates care [4].
  • Cardiologist: Monitors for heart defects and manages any necessary surgeries or long-term heart health [2][5].
  • Immunologist: Checks T-cell counts and immune function, crucially clearing the use of live vaccines [6].
  • Endocrinologist: Monitors calcium levels and checks for thyroid or growth hormone issues [7][2].
  • ENT & Speech-Language Pathologist: Evaluate the palate for VPI and monitor for hearing loss or ear infections [8][9].
  • Psychiatrist / Psychologist: Provides baseline testing and monitors for anxiety, ADHD, or later psychiatric risks [10][11].

Initial “Baseline” Evaluations

International clinical guidelines recommend several “baseline” tests immediately upon diagnosis to identify which systems are affected [2][12]. These usually include:

  1. Echocardiogram: An ultrasound of the heart [5].
  2. Blood Work: To check calcium, parathyroid hormone, and T-cell (immune) levels [7][6].
  3. Renal Ultrasound: To ensure the kidneys are present and shaped correctly [13].
  4. Audiology (Hearing Test): To check for hearing loss [9].
  5. Cervical Spine X-Ray: To screen for cervical spine anomalies before participating in certain high-impact physical activities [12].

First Visit Prep Checklist

To make the most of specialist appointments, be sure to bring:

  • [ ] The Genetic Report: A full, physical copy of the CMA or FISH results [14].
  • [ ] Medical History: Records of height, weight, prior surgeries, and medication lists.
  • [ ] Symptom Log: A list of any recurring infections, muscle cramps, or behavioral concerns.
  • [ ] The Guidelines: A printed copy of the clinical practice guidelines for 22q11.2DS to share with new doctors [2].

Frequently Asked Questions

What specialists are needed for a 22q11.2 deletion syndrome care team?
The core care team typically includes a geneticist, cardiologist, immunologist, endocrinologist, ENT specialist, speech-language pathologist, and a psychiatrist or psychologist. Because the syndrome affects multiple body systems, a multidisciplinary approach is the gold standard for care.
What baseline tests are recommended after a 22q diagnosis?
International clinical guidelines recommend several immediate tests to see which body systems are affected. These usually include an echocardiogram, blood work for calcium and immune function, a renal ultrasound, a hearing test, and a cervical spine X-ray.
Why do I need to see an immunologist for 22q11.2 deletion syndrome?
An immunologist checks your T-cell counts and overall immune function. This is critical for monitoring your risk of recurring infections and is strictly required to clear the use of live vaccines.
What should I bring to my first specialist appointment?
You should bring a physical copy of your genetic report, complete medical history and medication lists, a log of any recurring symptoms, and a printed copy of the clinical practice guidelines for 22q11.2 deletion syndrome.

Questions for Your Doctor

  • • Are you familiar with the international clinical practice guidelines for the management of 22q11.2 Deletion Syndrome?
  • • How will you coordinate and share information with the other specialists on my (or my child's) care team?
  • • What specific risks are you most concerned about right now based on the current age and health status?
  • • If there is a medical emergency or upcoming surgery, what 22q-specific precautions (like checking calcium) must be taken?

Questions for You

  • • Do I feel that this specialist listens to me and views the patient as a whole person, rather than just a symptom?
  • • What are the most urgent health needs right now, and which specialist appointment should be prioritized?
  • • Have I compiled a complete 'binder' or digital file of all medical records, symptom logs, and the genetic report?

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References

  1. 1

    Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).

    Kuo CY, Signer R, Saitta SC

    Current allergy and asthma reports 2018; (18(12)):75 doi:10.1007/s11882-018-0823-5.

    PMID: 30377837
  2. 2

    Clinical characteristics and immunological status of patients with 22q11.2 deletion syndrome in Northern Thailand.

    Ua-Areechit T, Varnado P, Tengsujaritkul M, et al.

    Asian Pacific journal of allergy and immunology 2023; (41(1)):89-95 doi:10.12932/AP-241019-0671.

    PMID: 32416666
  3. 3

    Impact of Interdisciplinary Team Care for Children With 22q11.2 Deletion Syndrome.

    Hickey SE, Kellogg B, O'Brien M, et al.

    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2020; (57(12)):1362-1369 doi:10.1177/1055665620947985.

    PMID: 32787583
  4. 4

    Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome.

    Schindewolf E, Khalek N, Johnson MP, et al.

    American journal of medical genetics. Part A 2018; (176(8)):1735-1741 doi:10.1002/ajmg.a.38665.

    PMID: 30055034
  5. 5

    22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease management.

    Ozen S, Akcal O, Taskirdi I, et al.

    Allergologia et immunopathologia 2021; (49(1)):95-100 doi:10.15586/aei.v49i1.24.

    PMID: 33528935
  6. 6

    Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France.

    Mahé P, Nagot N, Portales P, et al.

    American journal of medical genetics. Part A 2019; (179(11)):2207-2213 doi:10.1002/ajmg.a.61336.

    PMID: 31471951
  7. 7

    Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult.

    van der Meijs ME, Schweitzer DH, Boom H

    European journal of case reports in internal medicine 2021; (8(4)):002411 doi:10.12890/2021_002411.

    PMID: 33987118
  8. 8

    Otologic and audiologic findings in 22q11.2 deletion syndrome.

    Verheij E, Kist AL, Mink van der Molen AB, et al.

    European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2017; (274(2)):765-771 doi:10.1007/s00405-016-4365-y.

    PMID: 27837421
  9. 9

    Comparative Study of Pharyngeal Flap Outcomes between Children with 22q11.2 Deletion Syndrome and Nonsyndromic Cleft Lip and Palate.

    Wang AT, Hseu AF, Staffa SJ, et al.

    Plastic and reconstructive surgery 2024; (154(1)):151-160 doi:10.1097/PRS.0000000000010854.

    PMID: 37337330
  10. 10

    The emergence of psychotic experiences in the early adolescence of 22q11.2 Deletion Syndrome.

    Chawner SJRA, Niarchou M, Doherty JL, et al.

    Journal of psychiatric research 2019; (109()):10-17 doi:10.1016/j.jpsychires.2018.11.002.

    PMID: 30458299
  11. 11

    Recent developments in understanding the relationship between 22q11.2 deletion syndrome and psychosis.

    O'Rourke L, Murphy KC

    Current opinion in psychiatry 2019; (32(2)):67-72 doi:10.1097/YCO.0000000000000466.

    PMID: 30394904
  12. 12

    Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.

    Óskarsdóttir S, Boot E, Crowley TB, et al.

    Genetics in medicine : official journal of the American College of Medical Genetics 2023; (25(3)):100338 doi:10.1016/j.gim.2022.11.006.

    PMID: 36729053
  13. 13

    22q11.2 deletion syndrome.

    McDonald-McGinn DM, Sullivan KE, Marino B, et al.

    Nature reviews. Disease primers 2015; (1()):15071 doi:10.1038/nrdp.2015.71.

    PMID: 27189754
  14. 14

    22q and two: 22q11.2 deletion syndrome and coexisting conditions.

    Cohen JL, Crowley TB, McGinn DE, et al.

    American journal of medical genetics. Part A 2018; (176(10)):2203-2214 doi:10.1002/ajmg.a.40494.

    PMID: 30244528

This guide to building a 22q11.2 deletion syndrome care team is for educational purposes only. Always work with your geneticist and primary care provider to determine the specific specialists and tests required for your situation.

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