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Caring for the Adult with Trisomy 21

Micaela Robb Bowers, MD and Neda Frayha, MD
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Many of us are comfortable with caring for children with Trisomy 21, but what about adults? Neda sits down with Dr. Micaela Bowers to discuss the care of adults with Trisomy 21.

Pearls:

  • Adults with Trisomy 21 are at increased risk for a number of different diseases (ie: heart disease, OSA, Alzheimers) which necessitates different screening than the general population.

  • Social history is an important place to start to get an understanding of cognitive impairment and the social support for the patient that will be critical to caring for them.

 

  • Assess cognitive impairment and lead with a social history:

    • Patient with trisomy 21 will have have a widely varying degree of cognitive impairment

    • A great deal of clues can be gathered in conversation and social history:

      • Living situation - independent, group

      • Support people

      • Job

      • Communication

      • Guardianship

      • Sexual activity

        • Up to ⅓ of women with trisomy 21 are capable of getting pregnant

  • Medical history: head-to-toe approach to ensure you’re no missing anything

    • Heart:

      • Congenital heart disease - half of children with Trisomy 21 have it

        • Repair

        • Need for antibiotics before dental work

      • Valvular abnormalities - mitral valve prolapse or aortic regurgitation - is a risk for those with Trisomy even without congenital heart history

    • Pulmonary:

      • Obstructive sleep apnea - almost 80% have OSA. Should have a sleep study by the time they are 40

        • OSA risk from low tone and anatomy

    • Hematology:

      • Myelodysplastic syndromes

      • Iron deficiency anemia related to often restricted diets

      • Leukemia

      • Pearl: increased risk of cancer in childhood does not carry into adulthood

  • Screening: (see Global Down Syndrome Foundation link below)

    • Annual screening:

      • Symptoms of celiac disease (history only, no labs)

      • Symptoms of cervical myelopathy that could be a tip off for atlantoaxial instability (history of cervical radiculopathy symptoms)

      • Weight

      • Diabetes

      • Alzheimer’s disease starting at 40 (askin support people about changes in baseline function)

    • Other issues to be on the lookout for:

      • Thyroid disease, diabetes, hearing loss, atlantoaxial subluxation, depression

 

References:

  1. Global Down Syndrome Foundation. Global Medical Care Guidelines for Adults with Down Syndrome Checklist. Accessed February 10, 2021.  Link 

  2.  P, Capone G, Chicoine B, et al. GLOBAL Medical Care Guidelines for Adults with Down Syndrome.; 2020. Accessed February 3, 2021. Link 

  3. Tsou AY, et al. Medical Care of Adults With Down Syndrome: A Clinical Guideline. JAMA. 2020;324(15):1543-1556. PMID: 33079159

  4. Bull MJ; Committee on Genetics. Health supervision for children with Down syndrome [published correction appears in Pediatrics. 2011 Dec;128(6):1212]. Pediatrics. 2011;128(2):393-406. PMID: 21788214

  5. Ostermaier K. Down syndrome: Management. In: Firth HV, Drutz JE, eds. UpToDate. Waltham, MA; 2020. Accessed February 3, 2021. Link 

  6. Smith DS. Health care management of adults with Down syndrome. Am Fam Physician. 2001;64(6):1031-1038. PMID: 11578024

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