Building Your Care Team and Surveillance Schedule
At a Glance
Proximal 18q Deletion Syndrome requires a multidisciplinary care team including a geneticist, cardiologist, endocrinologist, and neurologist. Regular surveillance tests like echocardiograms, growth charting, and immune panels are crucial for catching and managing complications early.
Because Proximal 18q Deletion Syndrome affects multiple systems in the body, a multidisciplinary team—a group of specialists working together—is required to provide comprehensive care [1][2]. Managing a rare diagnosis can feel overwhelming; having a clear roadmap for who should be on the team and what screenings are needed can help reduce that burden.
Your Core Medical Team
Building this team early ensures that common risks are monitored before they become complications [3].
- Medical Geneticist: The “architect” of care. They interpret the microarray report and help other doctors understand which missing genes (like TCF4, GATA6, or SETBP1) drive specific risks [3][4].
- Cardiologist: Responsible for the initial and ongoing health of the heart. They look for specific “conotruncal” defects linked to the proximal region [3][5].
- Endocrinologist: Monitors growth and hormone levels. They are the primary contact for managing growth hormone deficiency and screening for thyroid issues or Type 1 Diabetes [6][7].
- Neurologist: Monitors for seizures (particularly focal seizures) and oversees any developmental or neurological concerns [8].
- Immunologist: Checks how well the body can fight infections to rule out “hidden” immune deficiencies [9].
Recommended Surveillance Schedule
While the schedule will be personalized, research suggests several “baseline” and ongoing tests to ensure nothing is missed [9][1].
| System | Test/Evaluation | Frequency | Why it’s needed | Questions to Ask the Specialist |
|---|---|---|---|---|
| Heart | Echocardiogram | At Diagnosis (Baseline) | To rule out conotruncal defects or valve issues [3][5]. | Did you check the outflow tracts specifically? |
| Growth | Growth Charting | Every 3–6 Months | To monitor for growth hormone deficiency and determine if rhGH therapy is needed [1]. | Is a growth hormone stimulation test necessary yet? |
| Thyroid | Blood Panel (TSH/T4) | Annually (or as directed) | To screen for hypothyroidism or autoimmune thyroiditis [7]. | Are the thyroid levels stable enough to avoid fatigue? |
| Immune | Immunoglobulin Panel | At Diagnosis & Ongoing | To check levels of IgG, IgA, and IgM for signs of hypogammaglobulinemia [9]. | Are extra vaccines or prophylactic antibiotics required? |
| Brain | Neurology Exam | As indicated by symptoms | To investigate suspected seizure activity [8]. | What do focal seizures look like so I know what to watch for? |
| Development | PT/OT/Speech Eval | At Diagnosis & Ongoing | To create an intervention plan for hypotonia and speech delays [1]. | Which specific therapies will yield the most immediate benefit? |
Tips for Care Coordination
Managing multiple specialists is a complex task. To stay organized:
- The Microarray is Key: Always bring a copy of the actual Chromosomal Microarray (CMA) report to every new specialist. They need the exact “breakpoints” and genes to understand the specific risks [3].
- Low Threshold for Investigation: If persistent symptoms arise (like recurring infections or unexplained fatigue), research suggests maintaining a “low threshold” for repeating tests like an echocardiogram or immune panel, as some issues can develop over time [5][9].
- Transitioning to Adult Care: As individuals approach their late teens or twenties, the care team will begin transitioning from pediatric to adult specialists. During this time, it is important to incorporate mental health screenings into the regular routine, as psychiatric symptoms like psychosis can occasionally emerge in adulthood [10].
Early and consistent monitoring empowers patients and families, ensuring the right support is available to thrive [1].
Common questions in this guide
Which specialists are needed for Proximal 18q Deletion Syndrome?
What routine screenings are recommended for a proximal 18q deletion?
Why do I need to show doctors the microarray (CMA) report?
How often should growth be monitored?
Questions to Ask Your Doctor
Curated prompts to bring to your next appointment.
- 1.Are you familiar with the specific difference between proximal and distal 18q deletions, especially regarding the GATA6 gene and conotruncal heart defects?
- 2.What experience do you have managing patients with rare 'copy number variants' or chromosome deletions?
- 3.How will our team coordinate communication? Who will be the 'lead' physician for multisystem care?
- 4.Can we establish a direct way to contact you if a sudden change in development or health is noticed?
- 5.Based on the specific breakpoints, which specialists should we prioritize for appointments this month?
Questions For You
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References
References (10)
- 1
Growth hormone treatment in a patient with deletion of the long arm of chromosome 18: An 8-year observation.
Jackowski T, Petriczko E, Horodnicka-Jozwa A, et al.
Neuro endocrinology letters 2019; (40(4)):169-174.
PMID: 32087092 - 2
Oral Care in a Patient with Long Arm Deletion Syndrome of Chromosome 18: A Narrative Review and Case Presentation.
Pisano M, Sangiovanni G, D'Ambrosio F, et al.
The American journal of case reports 2022; (23()):e936142 doi:10.12659/AJCR.936142.
PMID: 35746851 - 3
Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.
Rojnueangnit K, Charalsawadi C, Thammachote W, et al.
Molecular genetics & genomic medicine 2019; (7(9)):e896 doi:10.1002/mgg3.896.
PMID: 31390163 - 4
SALL3 mediates the loss of neuroectodermal differentiation potential in human embryonic stem cells with chromosome 18q loss.
Lei Y, Al Delbany D, Krivec N, et al.
Stem cell reports 2024; (19(4)):562-578 doi:10.1016/j.stemcr.2024.03.001.
PMID: 38552632 - 5
Atrial septal defect can be easily missed in chromosome 18q deletion syndrome.
Sabouni MA, Benedict D, Alom MS, et al.
Oxford medical case reports 2018; (2018(10)):omy076 doi:10.1093/omcr/omy076.
PMID: 30263129 - 6
Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review.
Liu S, Chen M, Yang H, et al.
Frontiers in endocrinology 2021; (12()):776835 doi:10.3389/fendo.2021.776835.
PMID: 34956087 - 7
Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes.
Hogendorf A, Szadkowska A, Michalak A, et al.
International journal of immunopathology and pharmacology 2021; (35()):20587384211039400 doi:10.1177/20587384211039400.
PMID: 34514903 - 8
Epilepsy and chromosome 18 abnormalities: A review.
Verrotti A, Carelli A, di Genova L, Striano P
Seizure 2015; (32()):78-83.
PMID: 26552569 - 9
18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency.
Hashiguchi S, Tomomasa D, Nishikawa T, et al.
Journal of clinical immunology 2024; (44(7)):154 doi:10.1007/s10875-024-01751-4.
PMID: 38896123 - 10
18q Deletion Syndrome-Associated Schizophrenia: A Case Report.
Colijn MA, Crockford DN
Neuropsychobiology 2024; (83(3-4)):179-182 doi:10.1159/000538693.
PMID: 38684151
This information on care teams and surveillance schedules is for educational purposes only. Always consult with a medical geneticist and your specialized healthcare team for a personalized medical plan.
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