Spina Bifida Part III CSHCN

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Spina BifidaPart III CSHCN

• Tressia Shaw, M.D.

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Spina Bifida

• Meningomyelocele, meningocele, other neural tube
  defects
• Incidence 1/1000 live births
• Incomplete closure of the spinal cord at various
  levels

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Spina Bifida

• Multifactorial determination
• Folic acid found to play a role
• 90 survive into adulthood with early surgical
  intervention
• Known set of complications associated with the
  diagnosis

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Case 1

• 4 month old female with meningomyelocele at the
  level of L3 presents to your office
• Meningomyelocele closure and VP shunt placement
  were performed shortly after birth
• Mom would like to know if her child will walk

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Case 1

• For what other secondary conditions should you
  screen?
• What referrals should be made?
• How do you answer moms question?
• What anticipatory guidance should you give this
  family?
• What other resources are available to the family?

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Case 1

• For what other secondary conditions should you
  screen?
• What referrals should be made?
• How do you answer moms question?
• What anticipatory guidance should you give this
  family?
• What other resources are available to the family

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Secondary Conditions

• Hydrocephalus - 90
• Due to Chiari malformation
• Early placement of shunt improves outcome
• Important to screen for shunt dysfunction or
  signs of infection at each visit
• Several different types of shunts

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Secondary Conditions

• Bladder dysfunction nearly 100
• Incontinence
• Reflux
• Hydronephrosis
• Infection

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Secondary Conditions

• Urology referral should be done early
• Renal US, VCUG, urodynamic studies needed
• Intermittent cath often needed, even in infancy
• Early evaluation key to preventing long term
  renal scarring and dysfunction

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Secondary Conditions

• Hip dislocation, club foot, scoliosis 90 will
  have at least one
• Careful physical examination warranted
• Early orthopedic referral
• Bracing, surgical intervention often needed

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Secondary Conditions

• Strabismus 20
• Careful physical examination
• Refer to ophthalmology for screening by age 1,
  earlier if exam indicates

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Secondary Conditions

• Developmental delay
• Motor skills uniformly affected
• Early intervention is important
• AZEIP, DDD, CRS referrals should be made

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Case 1

• For what other secondary conditions should you
  screen?
• What referrals should be made?
• How do you answer moms question?
• What anticipatory guidance should you give this
  family?
• What other resources are available to the family?

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Referrals

• Neurosurgery
• Urology
• Orthopedics
• Ophthalmology
• Genetics
• AZEIP, DDD, CRS
• Many of these referrals done through CRS
  multidisciplinary team
• It is still your responsibility to follow-up!

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Its time for more Alphabet Soup

• CRS Childrens Rehabilitative Services
• Qualification based on diagnosis and financial
  need
• Age 0-21

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Alphabet Soup

• Doctors, nurses, parents or friends may refer
• Pediatric History and Referral Form and the CRS
  Financial Application
• Onlinewww.hs.state.az.us/phs/ocshcn/crs/ or
• Call 800-392-2222

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Case 1

• For what other secondary conditions should you
  screen?
• What referrals should be made?
• How do you answer moms question?
• What anticipatory guidance should you give this
  family?
• What other resources are available to the family?

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Functional Impairment

• Children with Spina Bifida may have a wide range
  of outcomes
• Typically cognitive development is minimally
  affected
• Some known associated learning disabilities

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Functional Impairment

• Level of lesion determines ambulation
• L1, L2 requires extensive bracing and
  crutches/walker
• L3 moderate bracing with crutches
• L4, L5 minimal bracing may need crutches
• S1, S2 minimal assist with crutches or bracing

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Functional Impairment

• Good communication is important!
• Be honest and cover the range of possibilities
• Each child is different
• Remember to point out the childs strengths
• Empower the family to have a positive impact on
  the childs therapies and care

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Case 1

• For what other secondary conditions should you
  screen?
• What referrals should be made?
• How do you answer moms question?
• What anticipatory guidance should you give this
  family?
• What other resources are available to the family?

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Anticipatory Guidance

• Usual anticipatory guidance should be given for
  childs age
• Vaccinations can be given as scheduled
• Review high risk of latex allergy
• Review signs of shunt failure/infection
• Review importance of early intervention

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Anticipatory Guidance

• Review signs/symptoms of UTI
• Discuss navigating the health care system,
  involvement of multiple specialists
• Encourage parent to be the childs advocate

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Case 1

• For what other secondary conditions should you
  screen?
• What referrals should be made?
• How do you answer moms question?
• What anticipatory guidance should you give this
  family?
• What other resources are available to the family?

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Resources

• Spina Bifida Association of America (SBA)
  www.sbaa.org
• Association for Spina Bifida and Hydrocephalus
  www.asbah.demon.co.uk
• March of Dimes www.modimes.org
• Raising AZ Special Kids www.raisingspecialkids.com
  

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Case 2

• 3 year old female with spina bifida presents for
  a well child check
• History is significant for VP shunt
• She does not ambulate and has some mild
  developmental delays
• Mom is concerned about starting preschool

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Case 2

• Are there any additional secondary conditions for
  which you should screen?
• How should you address moms concerns about
  starting preschool?
• What referrals should be made?
• What other anticipatory guidance should be given?

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Case 2

• Are there any additional secondary conditions for
  which you should screen?
• How should you address moms concerns about
  starting preschool?
• What referrals should be made?
• What other anticipatory guidance should be given?

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Secondary Conditions

• Continued concerns
• Hydrocephalus, shunt function
• Bladder function, renal function
• Development and growth
• Orthopedic conditions
• Vision and Hearing

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Secondary Conditions

• Additional Concerns
• Tethered cord
• Renal function
• Learning disorders
• Behavior disorders

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Tethered Cord

• Occurs in 10 of patients
• More common in lower lesions
• Scarring/adhesions at surgical site
• Back pain, leg pain, worsening gait, worsening
  bowel, bladder function
• Surgical evaluation is needed

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Renal Function

• May develop impaired renal function due to
  reflux, recurrent infection, hydronephrosis
  causing scarring
• Decrease with early screening and intervention
• Screen with blood pressure
• Urology follow-up

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Cognitive Function

• IQ not greatly affected
• Early shunting can improve outcome

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Cognitive Function

• Strengths include verbal, reading, spelling
• Difficulties math, visual, perceptual skills
• BUT every child is different!
• Formal evaluation should be pursued

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Behavioral Issues

• May be increased risk for behavioral problems and
  psych issues
• Screen for and treat as early as possible

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Case 2

• Are there any additional secondary conditions for
  which you should screen?
• How should you address moms concerns about
  starting preschool?
• What referrals should be made?
• What other anticipatory guidance should be given?

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Transition to Preschool

• Great opportunity to begin to foster childs
  independence
• School is required to provide services both
  medical and academic
• IEP should be completed

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Back to the 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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Case 2

• Are there any additional secondary conditions for
  which you should screen?
• How should you address moms concerns about
  starting preschool?
• What referrals should be made?
• What other anticipatory guidance should be given?

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Referrals

• Neurosurgery
• Urology
• Orthopedics
• Ophthalmology
• Genetics
• DDD, CRS
• Many of these referrals done through CRS
  multidisciplinary team
• It is still your responsibility to follow-up!

43
Case 2

• Are there any additional secondary conditions for
  which you should screen?
• How should you address moms concerns about
  starting preschool?
• What referrals should be made?
• What other anticipatory guidance should be given?

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Anticipatory Guidance

• Review latex allergy risk
• Review growth and development
• Review orthopedic options available to assist
  ambulation
• Review transition to preschool
• Review signs of shunt dysfunction/infection

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Case 3

• A 15 year old female with Spina Bifida (L2 level)
  and a VP shunt presents for a routine well check
• She is in a wheelchair and no longer uses bracing
  for assisted ambulation
• She is at grade level in school
• She asks you what the chances are she will have a
  child with spina bifida

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Case 3

• What additional screening should be done
• How do you answer the patients question?
• What anticipatory guidance should be given?

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Case 3

• What additional screening should be done?
• How do you answer the patients question?
• What anticipatory guidance should be given?

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Screening

• Growth and development
• Annual hearing and vision exam
• Review school progress
• Obtain BP at each visit

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Screening

• Screen for shunt dysfunction/infection
• Screen for symptoms of tethered cord
• Review any orthopedic issues
• Assess bowel and bladder care
• Screen for skin breakdown and wheelchair fit

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Wheelchair Assessment

• Appropriate fit
• Signs of use, wear and tear
• Position and setting in the chair
• Distribution of weight
• Restraints/safety features

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Skin Assessment

• Take patient out of wheelchair
• Check pressure points for decubitus ulcers, skin
  breakdown
• Examine for any orthopedic abnormalities

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Growth and Development

• Risk of obesity
• Good nutrition and activity should be encouraged
• Normal pubertal development

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Case 3

• What additional screening should be done
• How do you answer the patients question?
• What anticipatory guidance should be given?

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High Recurrence Risk

• Either parent has neural tube defect
• Previously affected pregnancy
• First degree relative with neural tube defect
• Risk 2-4
• Should receive 4 mg folic acid daily PRIOR to
  conception

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And now for a public service announcement

• ALL women of planning to become pregnant should
  be taking 0.4 mg of folic acid daily
• Neural tube closes at 28 days, waiting until you
  know is TOO LATE!

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Case 3

• What additional screening should be done
• How do you answer the patients question?
• What anticipatory guidance should be given?

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Anticipatory Guidance

• Review latex allergy risk
• Issues of adolescence should be addressed peer
  interactions, sexuality, drugs, school
  performance
• Independence should be fostered and encouraged as
  much as possible
• Transition to adulthood and adult care

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Transition to Adulthood

• Begin to identify barriers to this transition
  early
• Start to explore educational, vocational, and
  living options available to the adolescent
• Empower the adolescent to assume control of their
  own health care and decision making

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Transition to Adulthood

• Identify an adult care provider
• Establish an uninterrupted flow of care
• Provide the adolescent and family with a concise
  record of care
• Facilitate transfer of care

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Take Home Points

• Use of disease 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. The Medical Home.
  Pediatrics, 110(1), 184-186.
• 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)
• Wilson, Golder and Cooley, Carl. Preventive
  Management of Children with Congenital Anomalies
  and Syndromes 2000
• Dr. David Hirsch and Dr. Kevin Berger of Phoenix
  Pediatrics
• Southwest Institute for Families and Children
  with Special Needs