Down Syndrome Part II CSHCN

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Down Syndrome Part II CSHCN

• Tressia Shaw, M.D.

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Down Syndrome

• Trisomy 21
• Incidence 1/650 1/1000 live births
• 80 survive to age 30 or greater
• Characteristic findings on physical exam
• Common set of complications found during lifetime

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Case 1

• 1 month old male with Down syndrome diagnosed at
  birth presents to your office
• The parents report being unsatisfied with their
  experience in the hospital, specifically
  communication by the pediatrician.
• There is a history of VSD being followed by
  cardiology
• Newborn screen was normal

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Case 1 cont.

• What are the common problems that should be
  screened for in the newborn period?
• What specific physical exam findings (besides
  those that define the diagnosis) should you look
  for?

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Case 1 cont.

• What referrals should be made?
• What resources might be useful to these new
  parents?
• If you had been the pediatrician to break the new
  to these parents, what techniques could you use
  to improve their satisfaction?
• What kind of anticipatory guidance should you
  give this family?

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Small Group Discussion

• What are the common problems that should be
  screened for in the newborn period?
• What specific physical exam findings (besides
  those that define the diagnosis) should you look
  for?

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Down Syndrome - Infants

• Congenital Heart Disease 50
• EKG, CXR, Echo, and cards c/s by 1 month
• Even if no murmur on exam still need eval!
• Screen at each visit for signs of CHF
• Keep in contact with cardiology

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Down Syndrome - Infants

• GI often related to hypotonia
• Obstruction usually presents in first 48 hrs
• TEF, Meckels, Hirschbrungs may present later
• Feeding difficulties may need speech c/s
• Constipation 30

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Down Syndrome Infants

• Hypothyriodism
• 1 risk congenital, 15-20 risk lifetime
• Follow-up on newborn screen
• If any question, repeat
• Repeat again at 6 and 12 months, then yearly

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Down Syndrome - Infants

• Eyes
• Strabismus and refractory errors - 50-60
• Cataracts 15
• Refer to optho by 4-6 months
• Should be followed at least yearly

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Down Syndrome - Infants

• Ears
• Hearing impairment 50-70
• Usually conductive
• Formal audiology evaluation by 6 months
• Repeat annually
• Counsel about risk of recurrent OM

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Down Syndrome - Infants

• Heme
• Neonatal leukemoid reaction 18
• Leukemia 10-20 increase risk over general
  population
• 75 of leukemias occur before age 3
• Obtain CBC

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Down Syndrome - Infants

• Ortho
• Increase risk of hip dysplasia due to hypotonia
• GU
• Hypospadias 5
• Undescended testis 25-50

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Down Syndrome - Infants

• Growth and Development
• Hypotonia Nearly 100
• Improves with maturity
• Early PT, OT important
• Always chart on Down Syndrome specific chart
• If falling off on growth, be suspicious of
  thyroid and heart complications

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Down Syndrome - Infants

• Growth and Development
• Average IQ 50 (normal average child 100)
• Wide variability
• MANY become productive, contributing members of
  society
• Early intervention is key!
• Vaccines can be given as scheduled

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Small Group Discussion

• What referrals should be made?
• What resources might be useful to these new
  parents?
• If you had been the pediatrician to break the new
  to these parents, what techniques could you use
  to improve their satisfaction?
• What kind of anticipatory guidance should you
  give this family?

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Summary of Referrals

• Cardiology
• Ophthalmology
• Audiology
• Genetics
• PT/OT/speech AZIEP
• DDD
• AZEIP
• CRS

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Do you remember the referral alphabet soup??
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Start with A

• AZEIP Arizona Early Intervention
• Age 0-3 for developmental delay
• Referral by phone, mail, or in person
• By PCP, parent, or other caregiver
• www.de.state.az.us/azeip
• 480-820-3605
• Evaluation begins after referral

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Small Group Discussion

• What referrals should be made?
• What resources might be useful to these new
  parents?
• If you had been the pediatrician to break the new
  to these parents, what techniques could you use
  to improve their satisfaction?
• What kind of anticipatory guidance should you
  give this family?

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Parent Resources

• Raising AZ Special Kids www.raisingspecialkids.co
  m
• National Association for Down Syndrome
• www.nads.org
• National Down Syndrome Society
• www.ndss.org
• Exceptional Parent
• www.eparent.com

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Small Group Discussion

• What referrals should be made?
• What resources might be useful to these new
  parents?
• If you had been the pediatrician to break the new
  to these parents, what techniques could you use
  to improve their satisfaction?
• What kind of anticipatory guidance should you
  give this family?

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Improving Communication

• Breaking the News
• Allow enough time
• Bring family and child into the room
• Refer to child by name
• Use positive language
• Discuss future and prognosis in a realistic, yet
  empowering manner
• Schedule a time for follow-up

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Improving Communication

• Breaking the News
• Allow time for questions
• Encourage family to write down questions as they
  come up
• Validate emotions
• Put the family in contact with other families or
  support groups - ASAP

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Small Group Discussion

• What referrals should be made?
• What resources might be useful to these new
  parents?
• If you had been the pediatrician to break the new
  to these parents, what techniques could you use
  to improve their satisfaction?
• What kind of anticipatory guidance should you
  give this family?

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Anticipatory Guidance

• Discuss the importance of early intervention
• Discuss risk of recurrent OM, increase risk for
  URI
• Discuss family support system, telling other
  family members/friends

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Anticipatory Guidance

• If child will need surgery discuss need for
  neck films
• Review need for genetic counseling
• Hopefully, by following the checklist you have
  discussed all other systems involved.

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Case 2

• 4 year old female with Down Syndrome presents to
  your clinic
• They have just moved from Iowa
• She has a history of repaired AV canal defect,
  speech, developmental delay, and recurrent OM
• Mom is unsure about services available in Arizona

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Case 2

• In addition to the the clinical concerns already
  discussed, what new concerns arise in a preschool
  age child?
• What screening should be done on this 4 year old
  with Down syndrome?
• What referrals should be made?
• How can you answer moms question about services
  available?
• Is there any additional anticipatory guidance
  that should be given?

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Small Group Discussion

• In addition to the the clinical concerns already
  discussed, what new concerns arise in a preschool
  age child?
• What screening should be done on this 4 year old
  with Down syndrome?
• What referrals should be made?
• How can you answer moms question about services
  available?
• Is there any additional anticipatory guidance
  that should be given?

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Additional Clinical Concerns

• Obstructive Sleep Apnea
• Atlantoaxial instability
• Obesity
• Recurrent OM
• Eczema
• School progress and development

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Small Group Discussion

• In addition to the the clinical concerns already
  discussed, what new concerns arise in a preschool
  age child?
• What screening should be done on this 4 year old
  with Down syndrome?
• What referrals should be made?
• How can you answer moms question about services
  available?
• Is there any additional anticipatory guidance
  that should be given?

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Screening- Preschool age

• Cardiac Continue to monitor symptoms,
  communicate with cards
• Endocrine Yearly TSH, T4
• GI Screen for constipation and treat
  appropriately
• Vision Yearly evaluation by Optho
• Hearing Yearly evaluation by Audiology

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Screening Preschool age

• ENT
• Recurrent OM (50-70)
• OSA
• refer to ENT if needed
• Antlanto-axial instability (5) Neck films by
  age 3, repeat once per decade
• Screen for behavioral problems
• Dental Care

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Small Group Discussion

• In addition to the the clinical concerns already
  discussed, what new concerns arise in a preschool
  age child?
• What screening should be done on this 4 year old
  with Down syndrome?
• What referrals should be made?
• How can you answer moms question about services
  available?
• Is there any additional anticipatory guidance
  that should be given?

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Referrals

• Cardiology
• ENT
• Ophthalmology
• Audiology
• Dental
• DDD
• CRS

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Small Group Discussion

• In addition to the the clinical concerns already
  discussed, what new concerns arise in a preschool
  age child?
• What screening should be done on this 4 year old
  with Down syndrome?
• What referrals should be made?
• How can you answer moms question about services
  available?
• Is there any additional anticipatory guidance
  that should be given?

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Services Available

• Age 3 or greater services received through school
  system
• Parent must request an evaluation in writing
• Child should receive an IEP
• DDD evaluation should also be completed

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What more alphabet soup?!

• Division of Developmental Disabilities
• Many services provided
• Family completes application
• Pediatrician completes medical documentation
• Apply at DDD office [phone]
• www.de.state.az.us/ddd

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More alphabet soup

• IEP Individualized Education Program
• Developed by team involved in childs education,
  therapies, and care providers
• Required by law to be provided for those that
  qualify
• Progress reviewed yearly or at parents request

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Small Group Discussion

• In addition to the the clinical concerns already
  discussed, what new concerns arise in a preschool
  age child?
• What screening should be done on this 4 year old
  with Down syndrome?
• What referrals should be made?
• How can you answer moms question about services
  available?
• Is there any additional anticipatory guidance
  that should be given?

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Anticipatory Guidance

• Discuss transition to preschool, school
  performance, interaction with peers
• Its never too early to talk about the future!
• Help parents begin to foster appropriate amount
  of independence early
• Discuss nutrition and activity

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Case 3

• 13 year old female with Down Syndrome here for
  Well Child Exam
• Her last year has been unremarkable
• She plans to participate in Special Olympics
• Mom has questions regarding puberty

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Case 3

• What routine screening should be done in this 13
  year old?
• What should you tell mom regarding pubertal
  development?
• What anticipatory guidance should you give at
  this visit?

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Small Group Discussion

• What routine screening should be done in this 13
  year old?
• What should you tell mom regarding pubertal
  development?
• What anticipatory guidance should you give at
  this visit?

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Screening Age 13-21

• Annual hearing exam
• Annual eye exam
• Annual thyroid studies
• Screen for constipation
• Screen for OSA
• Review nutrition and activity

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Screening Age 13-21

• Review school progress
• Review growth and development
• Review behavioral issues
• Follow-up on any other consults that have been
  needed

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Small Group Discussion

• What routine screening should be done in this 13
  year old?
• What should you tell mom regarding pubertal
  development?
• What anticipatory guidance should you give at
  this visit?

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Sexual Development

• Usually normal sexual development when compared
  to peers
• Males are usually sterile, may have low
  testosterone
• Approximately 40 of females ovulate

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Sexual Development

• Issues of GYN care and reproduction should be
  addressed early
• Adolescent should be involved in discussions of
  development and birth control if appropriate

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Small Group Discussion

• What routine screening should be done in this 13
  year old?
• What should you tell mom regarding pubertal
  development?
• What anticipatory guidance should you give at
  this visit?

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Anticipatory Guidance

• Discuss school performance
• Discuss sexuality and socialization
• Discuss transition to adulthood and adult care
• Discuss risk for early onset Alzheimers

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Transition To Adulthood

• Vocational planning
• Living arrangements
• Transfer to adult medical care
• Degree of supervision, guardianship

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Vocational Planning

• Many adults with Down Syndrome hold steady jobs
• Preparation for this can start during high school
• Adolescent should be assessed for appropriate job
  options
• Adolescent should be involved in this decisions!

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Living Arrangements

• Institutionalization once the norm
• Now most live with parents, in groups homes, or
  other independent living situations
• Begin to explore possible options early and
  discuss with the patient and family

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Transition to Adult Care

• Identify adult health care provider
• Establish an uninterrupted flow of care
• Provide a brief and complete health care summary
  to the patient and new provider

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Transition to Adult Care

• Provide list of specialists, medications,
  equipment, and other services
• Educate the patient regarding their own health
  issues and empower them to make decisions if
  appropriate

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Take Home Points

• Use of Down Syndrome specific screening
  guidelines can improve care
• Provide support to your patient and family by
  referrals for services, contacts, and effective
  communication
• Always keep in mind the next transition your
  patient will be making

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References

• AAP Policy Statement Health Supervision for
  Children with Down Syndrome. Pediatrics. Feb
  2001.
• AAP Policy Statement. The Medical Home.
  Pediatrics, 110(1), 184-186.
• Girgus A., Sanson-Fisher, R.W. (1995). Breaking
  Bad News Consensus Guidelines for Medical
  Practitioners. Journal of Clinical Oncology, 13,
  2449-56.
• Nickel, Robert E. Desch, Larry W. (2000) The
  Physicians Guide to Caring for Children with
  Disabilities and Chronic Conditions. Paul H.
  Brookes Publishing Company. (www.pbrookes.com)
• Northouse, P.G., Northouse, L.L. (1992). Health
  communication strategies for health
  professionals, 2nd Ed. Norwalk, CT Appleton
  Lange, pp. 73-117.
• Pantell, R. H., Stewart, T.J., Dias, J.K., Wells,
  P., Ross, A.W. (1982). Physician Communication
  with Children and Parents. Pediatrics, 70(3),
  396-402.
• Wilson, Golder and Cooley, Carl. Preventive
  Management of Children with Congenital Anomalies
  and Syndromes 2000