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Understanding Down Syndrome

Dr. Laura Nielsen

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Today’s Outline

• Physical Assessment Findings in the Newborn Period

• Medical Management in the Newborn Period and Common Complications /Co-morbidities

• Medical Management After Hospital Discharge

• Opportunities and Challenges in Providing Excellent Nursing Care and Advice /Resources

• Areas of New Research

Physical Assessment Findings

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New England Journal of Medicine, 6/11/2020

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Medical Management in the Newborn Period

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Cincinnati Children’s Study on what is driving need for ICU care This study looked at 129 live born infants

with Down syndrome over a one-year period who sought care at Cincinnati Children’s in the first year of life from 2013-2014.

• 65% required NICU care• Mean length of stay 29-30 days• 20% were premature but neither BW or GA

were significantly associated with need for ICU admission

• 62% of term infants required admission to NICU

• The most common non-cardiac reasons for admission were poor feeding (39%), respiratory distress (34%), jaundice (16%), infection (9%)

Congenital Heart Disease in Down Syndrome

• The burden for CHD in this study was 68%, significantly greater than the approximately 50% risk reported typically

• Complex CHD or AV Canal Defect had a 90% admission rate even though most did not require surgery in the neonatal period

• Pulmonary hypertension and heart failure had a 90-100% admission rate

• The only variable associated with prenatal diagnosis status was the presence of a structural heart defect in utero. In this study, 50% of the patients with Down syndrome were not diagnosed prenatally.

Cincinnati Children’s Study

Neonatal Complications in Infants with Down Syndrome

• Congenital heart disease

• Poor feeding +/- hypoglycemia

• Respiratory distress (obst. apnea/anomalies)

• Hyperbilirubinemia +/- polycythemia

• GI atresia (duodenal atresia/hirschrungs)

• Hypothyroidism

• Hematologic problems (low plt, TMD)

• Infections

• Kidney/GU anomalies

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Nursing Care during the hospital stay:

• Notify MD after birth of known or suspected infant with Down syndrome

• Monitor feedings closely for adequate suck, color changes, apnea, coughing/choking or increase work of breathing

• Monitor blood sugars and temperature

• Watch for abdominal distension, bilious vomiting and passage of stool within 24 hrs

Medical Evaluation during the hospital stay:

• Cardiac Echo

• Consult Genetics

• TSH (do not wait for newborn screen)

• CBC

• Hearing assessment

• Car seat study

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Medical Management After Hospital Discharge

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Condition %Hearing problems 75

Vision problems 60

Cataracts 15

Refractive errors 50

Obstructive sleep apnea 50–75

Otitis media 50–70

Congenital heart disease 40–50

Hypodontia and delayed dental eruption 23

Gastrointestinal atresias 12

Thyroid disease 4–18

Seizures 1–13

Hematologic problems

Anemia 3

Iron deficiency 10

Transient myeloproliferative disorder 10

Leukemia 1

Celiac disease 5

Atlantoaxial instability 1–2

Autism 1

Hirschsprung disease <1

KEY POINTS

• Echocardiogram at birth

• Referral to Genetics and Early Intervention

• Referral to Support Groups

• Thyroid screening at birth, 6 months, 12 months then yearly

• Audiology at birth, 6 months and then every 6 months until age 5 years and then yearly

• Eye exams between 6-12 months of age and then yearly

• Sleep study by age 4

• Hemoglobin / Iron studies yearly

• Education for parents about feeding problems, infantile spasms, symptoms of atlantoaxial subluxation

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Infantile Spasms

• https://youtu.be/nWfWwoWBCGY

• https://youtu.be/KaZhg0NK5Dg

Opportunities and Challenges in Providing Excellent Nursing Care and Advice /Resources

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• Parent as ”expert” of their child

• Changes in behavior may be the first and only sign

of a medical problem

• People- first language

WHAT ABOUT SIBLINGS?

COMMON BEHAVIORS IN CHILDREN WITH DOWN SYNDROME

• Temper tantrums

• Imitation

• Stubbornness / The Groove

• Getting Stuck

• Obsessions with particular shows /movies

• Self talk

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THE DOWN SYNDROME CLINIC AT CHILDREN’S HOSPITAL AND MEDICAL

CENTER AND OTHER RESOURCES

THE MISSION OF THE DOWN SYNDROME PROGRAM IS TO PROVIDE

COMPREHENSIVE MEDICAL AND PROFESSIONAL SERVICES TO CHILDREN

WITH DOWN SYNDROME AND TO INCREASE THE QUALITY OF LIFE FOR CHILDREN WITH DOWN SYNDROME AND THEIR FAMILIES, AS WELL AS TO PROVIDE ACCESS TO COMMUNITY

RESOURCES AND PROGRAMS.

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THE DOWN SYNDROME CLINIC IS A MULTIDISCIPLINARY CLINIC WITH THE

FOLLOWING PROVIDERS:

REGISTERED NURSE/COORDINATORPEDIATRICIAN

DIETICIANSOCIAL WORKERPSYCHOLOGIST

OCCUPATIONAL THERAPISTPHYSICAL THERAPIST

SPEECH THERAPIST

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Areas of New Research

References

Bahr, T. M., Henry, E., Hulse, W., Baer, V. L., Prchal, J. T., Bhutani, V. K., & Christensen, R. D. (2020). Early hyperbilirubinemia in neonates with down syndrome. The Journal of Pediatrics, 219, 140-145. Doi: 10.1016/j.jpeds.2019.12.039.

Bull, M. J. (2020). Down Syndrome. The New England Journal of Medicine, 382, 2344-2352. Doi: 10.1056/NEJMra1706537.

Bull, M. J. & the Committee on Genetics (2011). Health supervision for children with down syndrome. Pediatrics, 128(2), 393-406. Doi: 10.1542/peds.2011-1605.

Clauss, S. B., Gidding, S. S., Cochrane, C. I., Walega, R., Zemel, B. S., Pipan, M. E., Magge, S. N., Kelly, A., & Cohen, M. S. (2019). Prevalence of unsuspected abnormal echocardiograms in adolescents with down syndrome. American Journal of Medical Genetics, 179(12), 2420-2424. Doi: 10.1002/ajmg.a.61367.

Foley, C. M., Deely, D. A., MacDermott, E. J., & Killeen, O. G. (2019). Arthropathy of down syndrome: An under-diagnosed inflammatory joint disease that warrants a name change. RMD Open, 5(1), e000890. Doi: 10.1136/rmdopen-2018-000890.

Froehlke, M. & Zaborek, R. (2012). When down syndrome and autism intersect. Woodbine House.

Gray, C. (2015). The new social story book (15th ed.). Future Horizons.

Kats, D. J., Roche, K. J., & Skotko, B. G. (2020). Epileptic spasms in individuals with down syndrome: A review of the current literature. Epilepsia Open, 5(3), 344-353. Doi: 10.1002/epi4.12412.

Langkamp, D. L., Dusseau, A., & Brown, M. F. (2020). Vaccine hesitancy and low immunization rates in children with down syndrome. The Journal of Pediatrics, 223, 64-67. Doi: 10.1016/j.jpeds.2020.03.025.

Mittal, S., Boan, A. D., Pereira-Smith, S., & LaRosa, A. (2020). Screening for anemia in children with down syndrome. Journal of Development and Behavioral Pediatrics, 41(2), 141-144. Doi: 10.1097/DBP.0000000000000731

Narawane, A., Eng, J., Rappazzo, C., Sfeir, J., King, K., Musso, M. F., & Ongkasuwan, J. (2016). Airway protection & patterns of dysphagia in infants with down syndrome: Videofluoroscopic swallow study findings & correlations. International Journal of Pediatric Otorhinolaryngology, 132, 109908. Doi: https://doi.org/10.1016/j.ijporl.2020.109908

Poskanzer, S. A., Hobensack, V. L., Ciciora, S. L., & Santoro, S. L. (2020). Feeding difficulty and gastrostomy tube placement in infants with down syndrome. European Journal of Pediatrics, 179(6), 909-917. Doi: 10.1007/s00431-020-03591-x

Skotko, B. & Levine, S. (2009). Fasten your seatbelt: A crash course on down syndrome for brothers and sisters. Woodbine House.