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PubMed This is a summary of 18 peer-reviewed journal articles Updated
Pediatric Genetics

Building Your Child's Care Team

At a Glance

Children with 1p36 deletion syndrome require a multidisciplinary care team, including a geneticist, cardiologist, and neurologist, alongside early intervention therapies. Crucially, any behavioral medications must be cleared by a cardiologist due to severe cardiac risks.

Assembling a care team for a child with 1p36 deletion syndrome is like building a support structure for a complex project. Because this condition involves multiple systems in the body, your child will need a variety of experts working together [1][2].

The Core Multidisciplinary Team

For 1p36 deletion syndrome, the following specialists are often considered essential:

  • Pediatric Geneticist: They interpret the genetic report and help you understand the specific missing genes (like SKI or RERE) and what they might mean for your child’s future [3][4].
  • Pediatric Cardiologist: Essential for monitoring the risk of dilated cardiomyopathy or left ventricular non-compaction (LVNC) [5][6].
  • Pediatric Neurologist: Focuses on brain development and the management of epilepsy or infantile spasms [7][8].
  • Pediatric Ophthalmologist: Screens for eye movement issues like Duane retraction syndrome [9].
  • Endocrinologist: Monitors growth, thyroid function, and blood sugar levels [10][11].

The Therapy Team: Early Intervention

Outside of the doctor’s office, your child’s most frequent “team members” will be their therapists. Early intervention is the standard of care to help your child navigate developmental delays [12][2]. In many places, these Early Intervention services are provided through state-funded programs for children under age three.

  1. Physical Therapy (PT): Focuses on managing hypotonia (low muscle tone) and helping your child reach motor milestones [13].
  2. Occupational Therapy (OT): Works on fine motor skills and sensory processing [2].
  3. Speech-Language Pathology (SLP): Addresses communication delays and is also vital if your child has dysphagia (difficulty swallowing) [13][14].

Preparing for the First Appointment

Specialist appointments can be fast-paced. Coming prepared ensures you get the most out of your time. Create a “Medical Home” binder that includes:

  • The Full Genetic Report: Specifically the Chromosomal Microarray (CMA) results [3][15].
  • Imaging Reports: CD or digital access to any MRIs or echocardiograms [16][6].
  • Developmental Log: A list of milestones your child has reached and any concerns about behavior, sleep, or feeding [12][13].
  • Family History: Information about any relatives with known chromosomal rearrangements [17][18].

Navigating Sleep and Behavior: A Crucial Warning

As your child grows, your team may discuss pharmacological support if behavioral therapies are not enough. For example, melatonin is sometimes discussed for insomnia [12].

However, there is a severe medical risk you must be aware of: If your child is evaluated for ADHD-like symptoms, any use of stimulant medications (like methylphenidate) must be rigorously cleared and monitored by your child’s pediatric cardiologist. Because children with 1p36 deletion syndrome are at high risk for structural heart defects and cardiomyopathy, the use of stimulants poses a severe risk of adverse cardiac events [12][6]. Never start a behavioral medication without your cardiologist’s explicit approval.

Return to Home

Common questions in this guide

Which specialists does a child with 1p36 deletion syndrome need to see?
Children with 1p36 deletion syndrome typically need a pediatric geneticist, cardiologist, neurologist, ophthalmologist, and endocrinologist. These specialists monitor and manage the complex, multi-system aspects of the condition.
Why is early intervention important for 1p36 deletion syndrome?
Early intervention provides essential physical, occupational, and speech-language therapy. These therapies help manage low muscle tone and swallowing difficulties while supporting your child's developmental milestones.
What should I bring to my child's specialist appointments?
You should bring a medical binder containing your child's full genetic report, specifically the Chromosomal Microarray results. Also include imaging reports like MRIs or echocardiograms, a developmental log, and family history.
Is it safe for my child with 1p36 deletion syndrome to take ADHD medication?
Any stimulant medications for behavior must be strictly cleared by a pediatric cardiologist. Because children with this syndrome have a high risk for structural heart defects and cardiomyopathy, these medications pose a severe medical risk.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How many other children with rare chromosome deletions do you currently manage?
  2. 2.Which of the specialists you are referring us to have experience specifically with 1p36?
  3. 3.Can you help me understand which of my child's current symptoms are typical and which need a different investigation?
  4. 4.Who on your team will be our primary point of contact for coordinating all these different specialist reports?
  5. 5.Are there specific milestones you expect my child to hit in the next six months?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (18)
  1. 1

    1p36 deletion syndrome: first case report in Morocco detected by fluorescence in situ hybridization.

    Dafir K, Bouzid FZ, Mansouri M, Aboussair N

    The Pan African medical journal 2020; (37()):349 doi:10.11604/pamj.2020.37.349.26166.

    PMID: 33738037
  2. 2

    Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay.

    Seo GH, Kim JH, Cho JH, et al.

    Korean journal of pediatrics 2016; (59(1)):16-23 doi:10.3345/kjp.2016.59.1.16.

    PMID: 26893599
  3. 3

    [An updated review of 1p36 deletion (monosomy) syndrome].

    Bello S, Rodríguez-Moreno A

    Revista chilena de pediatria 2016; (87(5)):411-421 doi:10.1016/j.rchipe.2015.12.004.

    PMID: 26875550
  4. 4

    Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2.

    Miranda-Fernández MC, Ramírez-Oyaga S, Restrepo CM, et al.

    Molecular syndromology 2018; (9(3)):164-169 doi:10.1159/000488820.

    PMID: 29928183
  5. 5

    1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy-Two Cases Report.

    Jang S, Taber A, Bateman MG, et al.

    Frontiers in pediatrics 2021; (9()):653633 doi:10.3389/fped.2021.653633.

    PMID: 34164357
  6. 6

    Cardiovascular Phenotypic Spectrum of 1p36 Deletion Syndrome.

    Kaur T, Sriram CS, Prasanna P, Kohli U

    Journal of pediatric genetics 2023; (12(4)):329-334 doi:10.1055/s-0041-1732473.

    PMID: 38162160
  7. 7

    Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review.

    Greco M, Ferrara P, Farello G, et al.

    Epilepsy research 2018; (139()):92-101 doi:10.1016/j.eplepsyres.2017.11.016.

    PMID: 29212048
  8. 8

    Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.

    Verrotti A, Greco M, Varriale G, et al.

    Acta neurologica Scandinavica 2018; (138(6)):523-530 doi:10.1111/ane.13006.

    PMID: 30109707
  9. 9

    Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review.

    Yokoyama E, Villarroel CE, Diaz S, et al.

    Molecular cytogenetics 2020; (13()):42 doi:10.1186/s13039-020-00510-5.

    PMID: 32939224
  10. 10

    A Rare Case of an Infant With 1p36 Deletion Syndrome Presenting With Systolic Heart Failure Secondary to Severe Dilated Cardiomyopathy.

    Ogbuji CO, Ortega LE, Ward H, et al.

    Cureus 2023; (15(9)):e45746 doi:10.7759/cureus.45746.

    PMID: 37872928
  11. 11

    Noninsulinoma Pancreatogenous Hypoglycemia Syndrome in a Patient With 1p36 Deletion Syndrome.

    Auckley ED, Arosemena M, Philipson LH

    JCEM case reports 2024; (2(2)):luae003 doi:10.1210/jcemcr/luae003.

    PMID: 38304011
  12. 12

    Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment-A Case Report.

    Briegel W

    International journal of environmental research and public health 2021; (18(22)) doi:10.3390/ijerph182212064.

    PMID: 34831818
  13. 13

    1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis.

    Kang DS, Shin E, Yu J

    Korean journal of pediatrics 2016; (59(Suppl 1)):S14-S18 doi:10.3345/kjp.2016.59.11.S14.

    PMID: 28018437
  14. 14

    A Novel Case of Biliary Atresia in a Premature Neonate With 1p36 Deletion Syndrome.

    Chawla V, Anagnost MR, Eldemerdash AE, et al.

    Journal of investigative medicine high impact case reports 2018; (6()):2324709618790613 doi:10.1177/2324709618790613.

    PMID: 30057923
  15. 15

    The Growing Complexity of the Monosomy 1p36 Syndrome.

    Poot M

    Molecular syndromology 2016; (7(2)):49-50 doi:10.1159/000445138.

    PMID: 27385960
  16. 16

    The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series.

    Conway KS, Ghafoor F, Gottschalk AC, et al.

    Journal of neuropathology and experimental neurology 2021; (80(9)):856-860 doi:10.1093/jnen/nlab072.

    PMID: 34363665
  17. 17

    Genetic Analysis of 1p36 Deletions for Six Aborted Fetuses.

    Shen Y, Zhang W, Hua P, Qian F

    Alternative therapies in health and medicine 2024; (30(10)):384-390.

    PMID: 38401069
  18. 18

    First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat.

    Chen CP, Weng SL, Wu FT, et al.

    Taiwanese journal of obstetrics & gynecology 2024; (63(6)):909-912 doi:10.1016/j.tjog.2024.09.009.

    PMID: 39482002

This page provides educational information about building a care team for 1p36 deletion syndrome. Always consult your child's pediatric specialists and cardiologist before starting new treatments or medications.

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