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Care of Pediatric Down Syndrome
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Care of Pediatric Down Syndrome

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Regis College Master of Science in Nursing Family Nurse Practitioner Spring 2011

Regis College Master of Science in Nursing Family Nurse Practitioner Spring 2011

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  • Heinzman, D. and Khan, S (July 2010). Down Syndrome. Accessed via MDConsult on February 4, 2011 at http://phstwlp1.partners.org:2872/das/pdxmd/body/235051741-11/1114849877?type=med&eid=9-u1.0-_1_mt_1014362#Contributors
  • Chen H. (Feb 20110). Down Syndrome. Accessed via eMedicine on February 6, 2011 from http://emedicine.medscape.com/article/943216-overview
  • Chen H. (Feb 20110). Down Syndrome. Accessed via eMedicine on February 6, 2011 from http://emedicine.medscape.com/article/943216-overview
  • 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
  • Families weigh this decision individually 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
  • The actual risk for the patient is provided in the report (eg, Down syndrome risk 1 in 900) and this number should be given to the patient. 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
  • 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
  • NST, BPP, antepartum tests: It is reasonable to use these tests for the usual obstetrical indications (eg, fetal growth restriction, oligohydramnios, preeclampsia, decreased fetal movement).
  • The baby is born, the NP needs to provide anticipatory guidance and emotional support. Goal at this time is to encourage a healthy bond. This is an emotional time for families whether it was prenatally diagnosed or not. There are terms to recognize in the physical presentation of DS but certainly these are more academic purposes, I don’t think parents want to hear upslanting palpebral fissures. They may have health promotion inquiries regarding their baby’s vision health instead. Physical Characteristics: Dysmorphic Features Brachycephaly Upslanting palpebral fissures Epicanthic folds Brushfield spots – small white/graying brown spots on periphery of the iris Flat nasal bridge Folded or dysplastic ears Small ears Open mouth Protruding tongue Furrowed tongue Narrow palate Abnormal teeth Short neck Excessive skin at nape of the neck
  • Protruded tongue, epicanthal folds, slanted palpebral fissures
  • Physical Characteristics: Dysmorphic Features Affecting the Extremities Short broad hands Hypoplastic mid phalanx of fifth finger Incurved fifth finger Transverse palmar crease Space between the first and second toes (sandal gap deformity) Hyperflexibility of joints
  • A picture to depict common areas of concern which we’ll go over.
  • 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
  • The profile of cognitive impairment in DS appears to differ from other forms of intellectual disability. Impairment in expressive language was noted in another study of children with DS, who had fewer different and total words and decreased mean length of utterance compared to controls matched for nonverbal mental age. Vocabulary skills accelerated more rapidly than syntax (average sentence length and structure) and surpassed mental age in adolescence. Similar findings of increasing differences in comprehension with age were noted in another report, in which children with DS developed relatively stronger skills in vocabulary compared to syntax. Other selective deficits have been described, such as greater difficulty understanding sequences or grammatical rules. 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
  • The cause of DS-associated growth retardation remains unknown; low circulating levels of IGF-1 and diminished provoked and spontaneous secretion of GH have been reported in some patients [ 36,37 ]. Serum GH levels are not low in children with DS [ 38,39 ], but suboptimal endogenous GH production as a result of hypothalamic dysfunction has been demonstrated [ 40 ]. Selective deficiency of IGF-1, but not IGF-II, has been seen in Down syndrome patients who are older than two years [ 41,42 ]. IGF-1 receptors are present in brain cells from fetuses with trisomy 21 [ 42 ]. This is thought to result from the reduced resting metabolic rate in children and adults with DS [ 43,44 ]. In general, weight is less than expected for length in infants with DS, and then increases disproportionally so [ 8 ]. 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
  • This and the following information will help the NP provide good anticipatory guidance. Educate the parents that the growth and development growth charts available is standardized to capture average children without Down Syndrome, their baby will have their own growth chart 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
  • American Academy of Pediatrics http://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/2/442
  • 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
  • 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
  • The characteristics of hearing loss were illustrated by a study of 47 children with DS, two months to 3.5 years of age, evaluated by auditory brainstem response testing. Monitoring for this condition is important to preserve hearing.
  • In a Dutch study in children up to 14 years of age, the risk of type I diabetes is 3x greater in DS than in the general population
  • Height & weight are to be obtained since since the combination of slow of linear growth associated with weight gain is a sensitive indicator of hypothyroidism
  • The mechanism is thought to be because of alterations in mouth flora, with a higher frequency of Actinobacillus actinomycetemcomitans compared to controls Anticipate that the cooperation necessary for many orthodontic procedures may make them impractical in this population.
  • 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

Transcript

  • 1. Down Syndrome Johana Seminiano, RN, BSN Regis College Spring 2011 NU665B
  • 2. 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
  • 3. 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
  • 4. 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
  • 5. 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.
  • 6. Anticipatory Guidance: Patients Considering Screening
    • NP 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
  • 7. Anticipatory Guidance: Management of Screening Results
    • Screen 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.
  • 8. Anticipatory Guidance: Diagnostic Test
    • For (+) screening results- anticipate patients will obtain further definitive tests for diagnosis include:
    • 1 st trimester- fetal karyotype determination obtained via CVS
    • 2 nd 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).
  • 9. 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.
  • 10.  
  • 11.  
  • 12.  
  • 13.  
  • 14.  
  • 15.  
  • 16. Age Evaluate Anticipatory Guidance Newborn Feeding, Vision (strabismus, cataracts, nystagmus), congenital hearing loss, respiratrory heart defects, constipation
  • 17. 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
  • 18.  
  • 19. 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
  • 20. 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
  • 21. 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
  • 22.  
  • 23.  
  • 24. 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
  • 25.  
  • 26. 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
  • 27. 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
  • 28. 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.
  • 29. 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
  • 30. 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.
  • 31. 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
  • 32. 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
  • 33. 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
  • 34. 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
  • 35. 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
  • 36. 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
  • 37. 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
  • 38. Atlantoaxial Instability
  • 39. 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
  • 40.  
  • 41. 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
  • 42. 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
  • 43. References
    • March of Dimes Birth Defects Foundation www.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 )
  • 44. 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