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Down Syndrome

Michele Roberts, MD, PhD and Brian G. Skotko, MD, MPP Reviewed 06/2018
 


BASICS

DESCRIPTION

  • Down syndrome (DS) is a congenital condition associated with intellectual disability and an increased risk of multisystem medical problems.

  • System(s) affected: neurologic (100%), card...

DIAGNOSIS

HISTORY

~85% of mothers of infants with DS learn of the diagnosis postnatally, although this is changing with the availability of NIPS. 

PHYSICAL EXAM

  • In November 2015, DS-specific growth chart...

TREATMENT

GENERAL MEASURES

Genetic evaluation and counseling 

ISSUES FOR REFERRAL

  • Infant stimulation programs (early intervention)

  • Lactation consultant

  • Physical/occupational/speech therapy

  • Educational inclu...

ONGOING CARE

FOLLOW UP RECOMMENDATIONS

Patient Monitoring

The American Academy of Pediatrics recommends ongoing assessment and review, at least annually, the following surveillance: 
  • Vision: Assess for s...

REFERENCES

1
1 Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics...

ADDITIONAL READING

  • For more information: http://brianskotko.com/publications/

  • University of Kentucky’s Human Development Institute. National Center for Prenatal and Postnatal Down Syndrome Resources. ...

SEE ALSO

Algorithm: Intellectual Disability 

CODES

ICD10

  • Q90.9 Down syndrome, unspecified

  • Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)

  • Q90.0 Trisomy 21, nonmosaicism (meiotic nondisjunction)

  • Q90.2 Trisomy 21, translocation

ICD9

758.0 Down’s sy...

CLINICAL PEARLS

  • 99% of young adults/adults with DS report being happy with their lives.

  • DS specialty clinics can improve medical outcomes.

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