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Down SyndromeJohana Seminiano, RN, BSNRegis CollegeSpring 2011NU665B

+Down Syndrome: Prevalence & Incidence

Most common chromosomal abnormality affecting children today

Incidence 1 in 800 to 1 in 1,000 births of all races, genders, and socioeconomic classes

Syndrome occurs from the presence of 3 copies of chromosome 21 rather than the normal 2

+Down Syndrome: Mortality & Morbidity

Approximately 75% die in utero

Approximately 85% survive to age 1 year

Approximately 50% live longer than age 50

Conditions that contribute to mortality: congenital heart disease, esophageal atresia, Hirschsprung disease, duodenal atresia, and leukemia

51% over age 35 presented with dementia

Premature aging contributes to mortality rate

+Down Syndrome: Prognosis

Life expectancy is still reduced but survival has increased

Median age of death increased from 25 yo to 49 yo from 1983 to 1997; males live longer than females

Adult patients are healthier, better integrated into society, increased longevity

+ACOG: Recommendations for Down Syndrome Screening

Incidence increases with maternal age older women have fewer children compared to younger women approximately 80% of infants with Down syndrome are born to younger

women

All pregnant women, regardless of their age, should be offered screening for Down syndrome (ACOG, 2007)

Previously, women > 35 years and older were automatically offered genetic counseling and diagnostic testing for Down syndrome by amniocentesis or chorionic villus sampling (CVS) if they were.

+Anticipatory Guidance: Patients Considering ScreeningNP role is to:

Go over the different screening and diagnostic tests (genetic counselor will discuss further details )

The psychological & emotional implications of prenatal screening and diagnosis, even if the abnormality detected is a chromosomal abnormality other than Down Syndrome

The implications of having a child with Down syndrome

Information on options surrounding current pregnancy

+Anticipatory Guidance: Management of Screening ResultsScreen negative test

 Risk less than a chosen cut-off level (eg, Down syndrome risk <1 in 250)

Does not exclude possibility of Down syndrome

No further testing is recommended

Screen positive test 

Risk of having a baby with Down syndrome is at or above a chosen cut-off level (eg, Down syndrome risk ≥1 in 250).

Refer patient to a genetic counselor to discuss diagnostic and management options, including information on the natural history of Down syndrome.

+Anticipatory Guidance: Diagnostic Test For (+) screening results- anticipate patients will obtain

further definitive tests for diagnosis include:

1st trimester- fetal karyotype determination obtained via CVS

2nd trimester- amniocytes chromosomal analysis obtained via amniocentesis

full karyotype analysis for detection of any aneuploidy (not just trisomy 21) and detection of major structural chromosomal abnormalities (eg, translocations, inversions, marker chromosomes).

+Management of Pregnancy

No guidelines for obstetrical management of pregnancies complicated by Down syndrome.

Referral to national and local support groups

Referral to local medical and educational resources for information on the variable manifestations and prognosis

There are no studies on use of nonstress testing, the biophysical profile, or other antepartum tests for fetal assessment to monitor the fetus with Down syndrome.

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Age Evaluate Anticipatory Guidance

Newborn Feeding, Vision (strabismus, cataracts, nystagmus), congenital hearing loss, respiratrory heart defects, constipation

+Developmental Characteristics: Intellectual Disability

Almost all individuals with DS have a wide range of cognitive impairment

IQ declines through the first 10 years of age, reaching a plateau in adolescence that continues into adulthood

64% of the time: Language comprehension = mental age but language production is more delayed

+Health Promotion: Intellectual Disability Educate parents to provide a conducive learning

environment

Initial referrals should be made to early intervention, parent groups, and advocacy groups.

Assess areas surrounding the child’s learning including presentation of vision or hearing impairments so as to maximize child’s learning process and develop interpersonal & language skills

+Health Promotion: Intellectual Disability In the early teen years, discussion and plans for

transition to adulthood should include employment, place of residence, and leisure activities

+Presentation: Growth

Growth rate is reduced in DS compared to typical children

In adults with DS, on average: Males 5’2” tall 157 lb (BMI overweight) Females 4’9” tall 140 lb (BMI obese)

The prevalence of obesity is greater in down syndrome than in the general population with the majority of children obese by the age of three to four years

Published growth charts for children with down syndrome

Monitor growth to detect growth-related disturbances as in hypothyroidism or celiac disease

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Health Promotion: Obesity prevention

At 24 months of age- counsel on healthy diet and promote physical activity

Monitor calcium and vitamin D intake to minimize bone loss in that adults with DS have lower bone mineral density

+Presentation: Heart Disease

Approximately one-half of individuals with DS have congenital heart disease.

The Atlanta Down Syndrome Project is the largest population-based study. This study shows that 44% had congenital heart defects in which 45% had atrioventricular septal defect and 35% had ventricular septal defect.

It’s been found that some asymptomatic adolescents & adults without structural heart disease go on to develop valve abnormalities. 46% developed mitral valve prolapse in one study and 17% developed mitral valve regurgitation in another study.

Ongoing evaluation for CHD in consultation with a pediatric cardiologist

Health Promotion/Disease Prevention: nutrition, exercise, cardiac health

+Presentation: GI Abnormalities

There’s an increased risk for GI anomalies, (approximately 5% of case)

Duodenal atresia or stenosis occurred in 2.5 percent of cases found.

Hirschsprung disease is more common in DS than in the general population, although the risk is less than 1 percent.

A strong association appears to exist between DS and celiac disease. The prevalence of biopsy-proven celiac disease being 5 to 16%.

Health Promotion/Disease Prevention: Healthy Diet, screen for celiac at age 2

+Presentation: Eye Problems

Ophthalmologic disorders affect the majority of children with DS

Refractive errors (myopia, hyperopia, astigmatism) are common, 50% occur between age 3 to 5

Strabismus make up 25 to 57 %

Nystagmus make up 18 to 22 %

The frequency of ocular disorders increases with age.

+Health Promotion: Eye Problems Health Promotion/Disease Prevention: regular

ophthalmology visits, check vision each visit

Complete ophthalmologic assessment should be performed: in the newborn period or at least before six months of age

Detect for strabismus, nystagmus, and cataracts.

Affected children q2y vision check before age 5 then annually after age 5

Make appropriate referrals including pediatric ophthalmologist or ophthalmologist with expertise in infants with disabilities

+Presentation: Hearing Loss

 Hearing impairment affects 38 to 78% of individuals with DS.

The loss was unilateral 28% or bilateral 38%

Otitis media is a frequent problem, affecting 50 to 70 percent of DS children.

+Health Promotion: Hearing

 Ensure newborn hearing screen completed

If not passed, a full hearing evaluation by brainstem auditory evoked response and otoacoustic emission

Hearing should be evaluated regularly throughout childhood

Evaluate and treat otitis media, which occurs commonly

+Presentation: Hematologic Disorders Hematologic abnormalities affecting red cells,

white cells, and platelets are common in DS. The risk of leukemia in DS is 1 to 1.5 percent.

Approximately 65 percent of newborns with trisomy 21 have polycythemia.

White blood cell counts are decreased in DS.

Thrombocytosis is common in infancy

+Health Promotion: Hematologic Disorders CBC with diff at birth

Infants with transient myeloproliferative disorders should be followed with a CBC and diff q3mo until age 3 then q6mo until age 6.

Vigilant in assessing for signs of leukemia such as anemia, increased infections, and excessive bruising.

Encourage good infection control, good hand hygiene, adequate hydration, intake of iron-rich food, careful with sharps

+Presentation: Thyroid Disease

Thyroid disorders are common in DS.

Hypothyroidism occurred 3 to 54 %

Hyperthyroidism occurred 2.5 %

The risk of type I diabetes is 3x greater in DS than in the general population

Health Promotion/Disease Prevention: Monitor growth & development, watch for SXS of DM

+Health Promotion: Thyroid function

Thyroid function testing should be obtained in the newborn period.

AAP recommends repeat screening at 6 and 12 months, and then annually.

Height and weight should be measured annually

+Presentation: Periodontal Disease  common, involves inflammation, periods of

acute infection, and pain

Overlapping teeth, poor oral hygiene, and immune deficiency may also play a role

Health Promotion: encourage daily regimen of good dental hygiene, recommend q6mo dental visits, and refer patient for evaluation of orthodontic problems

+Presentation: Atlantoaxial Instabilitiy AAI with or without subluxation has been reported in as many as 10-

30% of individuals with Down syndrome

Symptomatic AAI is relatively uncommon, occurring in only 2.6 percent of patients with Down syndrome in one study

AAP Committee on Sports Medicine and Fitness recommends annual neuro evals for SXS consistent with spinal cord injury such as loss of motor skills, loss of bowel or bladder control, neck pain, neck stiffness

Symptomatic children need to have: an MRI to assess degree of spinal cord compression appropriate surgical consultation for definitive diagnosis and management

Side note: Special Olympics requires screening neck radiographs in children with DS before participation

+Atlantoaxial Instability

+Presentation: Sleep Apnea

 Increased risk of OSA due to soft tissue and skeletal alterations that lead to upper airway obstruction.

Assess for symptoms r/t OSA such as snoring, restless sleep, and sleep position beginning at age 1 and continuing throughout childhood.

Symptomatic children- refer, anticipate need for polysomnography; obesity may contribute so address appropiately

+References

American Academy of Pediatrics: Committee on Genetics (2007). Health Supervision for Children With Down Syndrome.Pediatrics, 107 (2), pp. 442-449. http://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/2/442

American Congress of Obstetrics & Gynecology (2007). New Recommendations for Down Syndrome: Screening Should Be Offered to All Pregnant Women. Accessed on February 4, 2011 from http://www.acog.org/from_home/publications/press_releases/nr01-02-07-1.cfm

Barss, V.A., Messerlian, G.M., & Canick, J.A. (2009). Overview of prenatal screening and diagnosis of Down syndrome. Accessed via UptoDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=antenatl/16784&source=see_link&anchor=H4#H4

+References

Association for Children with Down Syndrome www.acds.org

Davidson, M.A. (October 2008). Primary Care for Children and Adolescents with Down Syndrome Pediatric Clinics of North America - Volume 55, Issue 5  -  DOI: 10.1016/j.pcl.2008.07.001

Heinzman, D. and Khan, S. (July 2010). Down Syndrome. Accessed via FirstConsult on January 31, 2011 from http://phstwlp1.partners.org:2872/das/pdxmd/body/234610672-3/0?type=med&eid=9-u1.0-_1_mt_1014362

+References

March of Dimes Birth Defects Foundationwww.nichd.nih.gov/health/topics/Down_Syndrome.cfm

Murray, J., Ryan-Krause, P. (2010). Obesity in Children with Down Syndrome: Background and Recommendations for Management. Pediatric Nursing, 36(6):314-319. Accessed via Medscape on Feb. 2, 2011 from http://www.medscape.com/viewarticle/734672_4

National Association for Down Syndrome (www.nads.org)

National Down Syndrome Congress (www.ndsccenter.org)

National Down Syndrome Society (www.ndss.org)

+References

National Institute of Child Health and Human Development  (www.nichd.nih.gov/health/topics/Down_Syndrome.cfm)

National Library of Medicine www.nlm.nih.gov/medlineplus/downsyndrome.html

Roizen, N.J. and Stark, A.R. (Oct. 2009). Management of Down syndrome. Accessed via UpToDate on January 31, 2011 from http://www.uptodate.com/online/content/topic.do?topicKey=dis_chld/7271&source=related_link

Van Cleve, S.N., and Cohen, W.I. (2006). Part I: Clinical Practice Guidelines With Down Syndrome From Birth to 12 Years. Journal of Pediatric Health Care, 20 (1):47-54. Retrieved on January 31, 2011 from http://www.medscape.com/viewarticle/521906