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Health Conditions to Monitor in Down Syndrome

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Children with Down syndrome benefit from proactive health monitoring to ensure healthy development. Key guidelines include a postnatal echocardiogram for heart defects, early blood tests, regular thyroid screening, and a sleep study by age 4 to check for sleep apnea.

Key Takeaways

  • • Every newborn with Down syndrome should receive a postnatal echocardiogram to screen for heart defects.
  • • A complete blood count (CBC) should be performed within the first month of life to screen for a pre-leukemic condition called TAM.
  • • Routine monitoring of thyroid-stimulating hormone (TSH) is critical to prevent developmental delays.
  • • A formal sleep study is recommended for all children with Down syndrome by age 4 to detect obstructive sleep apnea.
  • • Regular hearing and vision screenings are necessary, as sensory issues like conductive hearing loss and refractive errors are highly common.

Children with Down syndrome are more likely to experience certain health challenges, but modern medicine has transformed how we manage them. By using a “proactive” rather than “reactive” approach—monitoring for issues before they cause symptoms—we can ensure that children lead healthy, vibrant lives. The following is a system-by-system guide to the most common conditions to monitor.

The Heart (Cardiovascular)

Approximately 30% to 60% of babies with Down syndrome are born with a heart defect [1][2].

  • Atrioventricular Septal Defect (AVSD): This is one of the most common heart conditions in this population, involving a “hole” in the center of the heart [1].
  • Monitoring: The American Academy of Pediatrics (AAP) recommends that every newborn with Down syndrome receive a postnatal echocardiogram (an ultrasound of the heart), even if no heart murmur is heard [1][3]. Early detection allows for surgical correction, which has been a primary driver in the dramatic increase in life expectancy for individuals with Down syndrome [4].

The Blood (Hematology)

Babies with Down syndrome have a unique blood profile that requires specialized monitoring in the first months and years of life.

  • Transient Abnormal Myelopoiesis (TAM/TMD): This is a unique “pre-leukemic” condition affecting between 5% and up to 30% of newborns with Down syndrome [5][6]. While it often resolves spontaneously, it must be monitored because, for the infants who actually have TAM, there is a 10% to 30% risk of it progressing to leukemia before age 5 [7][8]. (The overall risk of childhood leukemia for all children with Down syndrome is much lower, around 1% to 3% [9]).
  • Monitoring: A Complete Blood Count (CBC) should be performed within the first month of life to screen for TAM [10][11]. Rather than continuous blood draws, ongoing monitoring simply involves you and your pediatrician watching for physical signs of leukemia (like persistent fevers, bone pain, or easy bruising) during routine checkups [12][13].

Digestion and Metabolism

  • Gastrointestinal Issues: Approximately 5% to 10% of infants with Down syndrome are born with gastrointestinal malformations [14]. Common issues include duodenal atresia or stenosis (a blockage in the small intestine) and Hirschsprung disease (a condition affecting the large intestine) [15][16]. Signs of a blockage include bilious (green) vomiting shortly after birth.
  • Thyroid Function: Thyroid dysfunction is highly prevalent, and monitoring is critical to prevent developmental delays [17][18].
  • Monitoring: Thyroid-stimulating hormone (TSH) should be checked at birth, 6 months, 12 months, and then annually thereafter [17][18][19].

Sleep and Breathing

Obstructive Sleep Apnea (OSA) is extremely common, affecting approximately 61% to 94% of children with Down syndrome [20][21][22]. This is often due to hypotonia (low muscle tone) and a larger tongue (macroglossia) that can partially block the airway during sleep [23][21].

  • Monitoring: Because nighttime symptoms alone cannot reliably predict OSA, the AAP recommends a formal sleep study (polysomnography) for all children with Down syndrome by age 4 [23][24][25].

Vision and Hearing

Sensory issues can significantly impact a child’s development and learning if left untreated.

  • Hearing: Conductive hearing loss is found in 48% to 72% of children, often caused by fluid in the ear or frequent infections [26][27].
  • Vision: Over 70% of children will have refractive errors like astigmatism or farsightedness that require glasses [28][29].
  • Monitoring: AAP guidelines suggest annual hearing tests and regular vision screenings (starting between 6 and 12 months) to ensure timely intervention [26][29][30].

By staying on top of this “checklist,” you are giving your child the strongest possible foundation for growth and development.

Frequently Asked Questions

Why does my baby need an echocardiogram if they don't have a heart murmur?
All newborns with Down syndrome should receive a postnatal echocardiogram, even if no heart murmur is heard. This ensures early detection of common issues like Atrioventricular Septal Defects, allowing for timely surgical correction if needed.
What is TAM and why is my baby's blood being tested for it?
TAM, or Transient Abnormal Myelopoiesis, is a unique pre-leukemic blood condition that affects up to 30% of newborns with Down syndrome. A complete blood count in the first month helps identify it so doctors can monitor for any signs of progression.
How often should my child's thyroid be checked?
Thyroid-stimulating hormone (TSH) should be tested at birth, at 6 months, at 12 months, and then once every year. Consistent monitoring is critical to catch thyroid dysfunction early and prevent developmental delays.
Does my child really need a sleep study if they seem to sleep fine?
Yes. Obstructive sleep apnea affects the majority of children with Down syndrome due to low muscle tone and airway anatomy. Because symptoms during sleep aren't always obvious to parents, a formal sleep study is recommended for all children by age 4.

Questions for Your Doctor

  • • Has a postnatal echocardiogram been performed to screen for Atrioventricular Septal Defects (AVSD) and other heart issues?
  • • Can we review the results of the CBC and blood smear performed during the first month to check for Transient Myeloproliferative Disorder (TMD)?
  • • Are we following the AAP schedule for thyroid (TSH) monitoring—at birth, 6 months, 12 months, and then annually?
  • • When should we schedule our first formal hearing and vision screenings this year?
  • • Since Obstructive Sleep Apnea (OSA) is so common, when is the best time for my child to have a screening sleep study?

Questions for You

  • • Have I noticed any "red flags" like green-tinted vomiting, extreme floppiness, or gasping during sleep?
  • • Do I have a copy of the specific Down Syndrome Growth Charts to track my child's height and weight accurately?
  • • Which specialist on our care team is coordinating these various health screenings?

Want personalized information?

Type your question below to get evidence-based answers tailored to your situation.

References

  1. 1

    Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndrome.

    Morales-Demori R

    Congenital heart disease 2017; (12(6)):820-827 doi:10.1111/chd.12521.

    PMID: 28736822
  2. 2

    Down Syndrome with Complete Atrioventricular Septal Defect, Hypertrophic Cardiomyopathy, and Pulmonary Vein Stenosis.

    Mahadevaiah G, Gupta M, Ashwath R

    Texas Heart Institute journal 2015; (42(5)):458-61 doi:10.14503/THIJ-14-4256.

    PMID: 26504441
  3. 3

    Experience of the Pediatric Department at the Mohammed VI University Hospital Center in Oujda on Trisomy 21 and Congenital Heart Defects: What Is the Reality in the Oriental Region of Morocco?

    Babakhouya A, Yechouti C, Salhi C, et al.

    Cureus 2025; (17(6)):e86689 doi:10.7759/cureus.86689.

    PMID: 40718231
  4. 4

    Cardiovascular disease in Down syndrome.

    Versacci P, Di Carlo D, Digilio MC, Marino B

    Current opinion in pediatrics 2018; (30(5)):616-622 doi:10.1097/MOP.0000000000000661.

    PMID: 30015688
  5. 5

    Down syndrome presenting with different hematological manifestations: A case series of four cases.

    Shangpliang D, Dey B, Das J, et al.

    Journal of family medicine and primary care 2020; (9(5)):2569-2572 doi:10.4103/jfmpc.jfmpc_326_20.

    PMID: 32754549
  6. 6

    A case of transient abnormal myelopoiesis with trisomy 21, tetrasomy 21, and trisomy 19.

    Munakata M, Go H, Hiruta S, et al.

    Fukushima journal of medical science 2026; (72(1)):69-72 doi:10.5387/fms.24-00045.

    PMID: 40769884
  7. 7

    Transient Abnormal Myelopoiesis: An Abnormal Course and the Efficacy of Delayed Treatment.

    Mishra P, Fajrudheen M, Sahoo T, et al.

    Cureus 2024; (16(2)):e54219 doi:10.7759/cureus.54219.

    PMID: 38496060
  8. 8

    Myeloid Leukemia of Down Syndrome.

    Kosmidou A, Tragiannidis A, Gavriilaki E

    Cancers 2023; (15(13)) doi:10.3390/cancers15133265.

    PMID: 37444375
  9. 9

    Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update.

    Bhatnagar N, Nizery L, Tunstall O, et al.

    Current hematologic malignancy reports 2016; (11(5)):333-41 doi:10.1007/s11899-016-0338-x.

    PMID: 27510823
  10. 10

    Transient Abnormal Myelopoiesis: A Varied Spectrum of Clinical Presentation.

    Singh A, Mandal A, Guru V, et al.

    Journal of hematology 2017; (6(1)):25-28 doi:10.14740/jh306w.

    PMID: 32300388
  11. 11

    Transient Myeloproliferative Disorder: An Update for Neonatal Nurses.

    Gallaway L, Jnah AJ

    Neonatal network : NN 2019; (38(3)):144-150 doi:10.1891/0730-0832.38.3.144.

    PMID: 31470381
  12. 12

    A sensitive and inexpensive high-resolution melting-based testing algorithm for diagnosis of transient abnormal myelopoiesis and myeloid leukemia of Down syndrome.

    Camargo R, de Castro Moreira Dos Santos A, Cândido Guido B, et al.

    Pediatric blood & cancer 2022; (69(11)):e29866 doi:10.1002/pbc.29866.

    PMID: 35731576
  13. 13

    Transient abnormal myelopoiesis in a premature infant with Down syndrome: A case report.

    Wang J, Wang D, Tao X, et al.

    Medicine 2025; (104(29)):e43178 doi:10.1097/MD.0000000000043178.

    PMID: 40696625
  14. 14

    The impact of trisomy 21 on epidemiology, management, and outcomes of congenital duodenal obstruction: a population-based study.

    Bethell GS, Long AM, Knight M, et al.

    Pediatric surgery international 2020; (36(4)):477-483 doi:10.1007/s00383-020-04628-w.

    PMID: 32114651
  15. 15

    Atypical Presentation of Duodenal Atresia in a Newborn With Trisomy 21: A Simulated Case Report and Narrative Review.

    Tam CW, Patel S, Massoumi J, et al.

    Pediatric annals 2025; (54(4)):e139-e143 doi:10.3928/19382359-20250206-04.

    PMID: 40163714
  16. 16

    The Double Bubble Sign: Duodenal Atresia and Associated Genetic Etiologies.

    Bishop JC, McCormick B, Johnson CT, et al.

    Fetal diagnosis and therapy 2020; (47(2)):98-103 doi:10.1159/000500471.

    PMID: 31167209
  17. 17

    Prospective study of thyroid function in the first year of life in infants with Down syndrome.

    Feldman PM, Rodriguez N, Morrison E, et al.

    European journal of pediatrics 2023; (182(6)):2903-2911 doi:10.1007/s00431-023-04954-w.

    PMID: 37059961
  18. 18

    Characterization of Thyroid Abnormalities in a Large Cohort of Children with Down Syndrome
.

    Pierce MJ, LaFranchi SH, Pinter JD

    Hormone research in paediatrics 2017; (87(3)):170-178 doi:10.1159/000457952.

    PMID: 28259872
  19. 19

    Health Surveillance in a Down Syndrome Specialty Clinic: Implementation of Electronic Health Record Integrations During the Coronavirus Disease 2019 Pandemic.

    Santoro SL, Howe YJ, Krell K, et al.

    The Journal of pediatrics 2023; (255()):58-64.e6 doi:10.1016/j.jpeds.2022.10.021.

    PMID: 37081778
  20. 20

    Sleep-Disordered Breathing and Associated Comorbidities among Preschool-Aged Children with Down Syndrome.

    Kolstad TK, DelRosso LM, Tablizo MA, et al.

    Children (Basel, Switzerland) 2024; (11(6)) doi:10.3390/children11060651.

    PMID: 38929231
  21. 21

    Caregiver knowledge of obstructive sleep apnoea in Down syndrome.

    Giménez S, Tapia IE, Fortea J, et al.

    Journal of intellectual disability research : JIDR 2023; (67(1)):77-88 doi:10.1111/jir.12990.

    PMID: 36416001
  22. 22

    Obstructing Sleep Apnea in Children with Genetic Disorders-A Special Need for Early Multidisciplinary Diagnosis and Treatment.

    Oros M, Baranga L, Plaiasu V, et al.

    Journal of clinical medicine 2021; (10(10)) doi:10.3390/jcm10102156.

    PMID: 34067548
  23. 23

    Obstructive Sleep Apnea-Hypopnea Syndrome in Children With Down Syndrome Treated at a Tertiary Care Hospital in Northeastern Colombia.

    Suarez Mantilla SN, Mora Bautista VM, Africano Leon ML, et al.

    Cureus 2026; (18(1)):e102624 doi:10.7759/cureus.102624.

    PMID: 41773098
  24. 24

    Accuracy of Parental Perception of Nighttime Breathing in Children with Down Syndrome.

    Friedman NR, Ruiz AG, Gao D, Ingram DG

    Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2018; (158(2)):364-367 doi:10.1177/0194599817726286.

    PMID: 28871845
  25. 25

    Predictors of sleep disordered breathing in children with Down syndrome: a systematic review and meta-analysis.

    Hanna N, Hanna Y, Blinder H, et al.

    European respiratory review : an official journal of the European Respiratory Society 2022; (31(164)) doi:10.1183/16000617.0026-2022.

    PMID: 35768130
  26. 26

    The prevalence of hearing impairment in infants and children with down syndrome a cross sectional study in a Tertiary Care Center.

    Yahia S, Metawea M, Megahed A, et al.

    Scientific reports 2025; (15(1)):7570 doi:10.1038/s41598-025-90500-7.

    PMID: 40038479
  27. 27

    Middle Ear Disorders in Children with Down Syndrome: The Detrimental Effect on Speech and Language Development.

    Tenenbaum A, Yaakov AB, Peled Y, et al.

    Children (Basel, Switzerland) 2025; (12(5)) doi:10.3390/children12050558.

    PMID: 40426737
  28. 28

    Prevalence of ophthalmic abnormalities and refractive changes in Taiwanese children with Down syndrome.

    Chen CP, Tsai TH, Liu YL, et al.

    PloS one 2025; (20(5)):e0324366 doi:10.1371/journal.pone.0324366.

    PMID: 40397898
  29. 29

    Challenges in Patients with Trisomy 21: A Review of Current Knowledge and Recommendations.

    Robinson J, Pompe MT, Gerth-Kahlert C

    Journal of ophthalmology 2021; (2021()):8870680 doi:10.1155/2021/8870680.

    PMID: 34123415
  30. 30

    Stakeholder Buy-In and Physician Education Improve Adherence to Guidelines for Down Syndrome.

    Santoro SL, Martin LJ, Pleatman SI, Hopkin RJ

    The Journal of pediatrics 2016; (171()):262-8.e1-2.

    PMID: 26831529

This guide provides educational information on health monitoring for children with Down syndrome. It is not medical advice; always consult your pediatrician to coordinate personalized screenings and care for your child.

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