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Management

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General Management Issues

  • Early detection of complications
  • All routine pediatric and adult screenings should be conducted
  • Provide extra services for developmental support

First Steps After Confirming Diagnosis

  • As soon as the diagnosis is suspected (while karyotype is pending), review the syndrome, cause, phenotype ranges, and support resources with BOTH parents
    • Level 2 evidence: systematic review of observational studies, 18 retrospective case studies and 1 non-randomized trial. Reference: (Skotko, Capone et al. 2009)
  • Test parents if patient has a translocation or other chromosomal rearrangement
    • Parental testing not indicated if the patient has a complete extra copy of chromosome 21 without a translocation (free trisomy 21)
  • Echocardiogram for structural defects
    • If prenatal diagnosis: fetal echocardiogram
  • Evaluate for hearing loss
  • Ophthalmologic examination
  • CBC to evaluate for TMD or leukemia
  • Assess for feeding difficulties
    • Consider Occupational Therapy referral

Diet, Exercise, and Lifestyle Interventions

  • All will be mentally impaired and will need continuing care as adults in a family or community setting
  • Financial planning and guardianship issues should be addressed
  • No specific dietary or exercise precautions
  • Minimize obesity: increased risk of obstructive sleep apnea

Longitudinal Care

All patients should have a continuing relationship with a primary care provider, to ensure health care needs are met and coordinate other care services.

Follow-up Testing/Screening/Monitoring

SystemComplicationsTests/InterventionsFrequency
References: (2001; Smith 2001; Van Cleve and Cohen 2006; Hunter 2010
Growth Short stature Consider using DS-specific growth charts (now endorsed by CDC) Childhood
Eyes Visual refractive errors, strabismus, nystagmus, Congenital or acquired cataracts Vision screening No consensus on frequency
ENT Increased serous otitis media and conductive hearing loss; dental problems Hearing screening; Dental exam by age 2 years No consensus on frequency; Dental exam by age 2 years
Endocrine Thyroid disease (usually hypothyroidism; may be congenital) Diabetes mellitus (types 1 and 2) Thyroid function tests No consensus on frequency

Care Team Members

Recommended

  • Geneticist
  • Early intervention and early education specialists
  • Psychologist or social worker to help manage family stress

Optional, depending upon clinical manifestations

  • Cardiologist
  • Dentist
  • Endocrinologist
  • Gastroenterologist
  • Neurologist
  • Otolaryngologist
  • Ophthalmologist
  • Orthopedist
  • Hematologist/oncologist

Physical/Occupational/Speech/Developmental Therapies

Early intervention in all of these areas is recommended

Psychology/Counseling

This is optional, but should be supported when needed

Medications

 Usual medical care is the rule for medications in a patient with Down syndrome.

Exceptions

  • Cancer chemotherapy toxicities are more frequent and more severe
  • Methotrexate should be avoided

    See more information.>>

    • Anthracycline related cardiotoxicity 3.4X more frequent than in general population
    • A gene for a cellular transporter of methotrexate is on chromosome 21, leading to higher intracellular methotrexate concentration

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References: (Zipursky 2003)

Surgery and/or Procedures

Usual indications for surgery apply

Anesthesia risks include possible difficult airway related to short neck and atlantoaxial instability

Other Inverventions

None needed

Treatments and Interventions to Avoid

No need to repeat echocardiogram unless an abnormality is identified

Reproductive Implications

  • Most males with Down syndrome are infertile
  • Most females with Down syndrome are fertile
  • Pregnancy has no direct effect on Down Syndrome manifestations
  • Refer to pregnant Down Syndrome females to high-risk obstetrician because of increased pregnancy risk

Prognosis

  • Specific manifestations and severity highly variable
  • Social functioning often exceeds intellectual functioning
  • Many are able to hold jobs and live independently with support
  • Average life expectancy is about 60
  • Infant/childhood mortality more likely with congenital heart disease and/or leukemia
References: (Ranweiler 2009; Vis, Duffels et al. 2009)

Penetrance

Likelihood of having clinical manifestations (penetrance0: Include any known factors affecting this liklihood.

Factors Affecting Expression (Variable Expressivity)

Describe clinically relevant factors that affect expression of specific manifestations, such as age, sex, family history, environmental exposures, etc.

EFFECT ON LONGEVITY/LIFESPAN
EFFECT ON FUNCTION AND QUALITY OF LIFE
EXPECTED RESPONSE TO THERAPY
HOW DO GENETIC TEST RESULTS ALTER PROGNOSIS?

Presymptomatic or Asymptomatic Patients

N/A

Consensus Statements and Guidelines

Health Supervision for Children with Down Syndrome. Pediatrics 2001. 107: 442-9 (2001)