CARING FOR THE CHILD WITH EHLERS-DANLOS SYNDROME

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CARING FOR THE CHILD WITH EHLERS-DANLOS SYNDROME

• Tamison Jewett, M.D.
• Associate Professor
• Department of Pediatrics
• Director, Clinical Genetics Services
• Wake Forest University Health Sciences
• Winston-Salem, NC

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EDS

• Occurs in 1/5000 individuals (all types
  combined)much more common than once thought
• Can be highly variable within families
• Is diagnosed based on family history, symptoms,
  and physical exam findings
• Laboratory confirmation is available in the
  minority of cases

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How is EDS inherited?

• Most forms are autosomal dominant
• Some forms are autosomal recessive

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A quick genetics lesson
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p-arm
lt centromere
q-arm
autosomes
lt Xp21
NOR, gt acrocentic
Sex chromosomes
Ideogram of the human chromosomes
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Autosomal dominant inheritance
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Autosomal recessive inheritance
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A gene or genes may change for the first time in
anyone. Therefore, a child with EDS may not have
a parent with EDS.
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When should the diagnosis of EDS be considered in
a child?

• When there is/are
• A positive family history of EDS in a first
  degree relative (mother, father, sister or
  brother)
• The classical triad of hyperextensible joints,
  hyperextensible skin, and poor wound healing
• Hypotonia (sometimes severe) in an infant/child
  of otherwise unknown cause
• Recurrent joint dislocations

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When should the diagnosis of EDS be considered in
a child? (cont.)

• When there is/are
• Easy bruising
• Early onset and/or rapidly progressive scoliosis
• Spontaneous pneumothorax
• Arterial rupture
• Intestinal rupture
• Aortic root dilatation

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How do we define joint hypermobility?

• By using the Beighton criteria, as follows
• 1 point for passive dorsiflexion of each 5th
  finger greater than 90 degrees
• 1 point for apposition of each thumb to the
  flexor surface of the forearm
• 1 point for hyperextension of each elbow greater
  than 10 degrees
• 1 point for hyperextension of each knee greater
  than 10 degrees
• 1 point for the ability to place the palms on the
  floor with the knees fully extended
• A score of 5/9 or greater is consistent with
  joint hypermobility.

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Case 1 EDS, Classic Type

• Lilly is a 3 yo girl who has had multiple
  trips to the emergency department (ED) because of
  lacerations to her face, elbows, and knees after
  seemingly minor falls. The sutures often do not
  hold, and Lilly has taken longer to heal than
  expected. When she does heal, her scars are wide
  and thin. After one of her trips to the ED, her
  parents were reported to Social Services because
  Lilly had lots of bruises. Her parents say they
  dont know what causes most of them.

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Case 1 (cont.)

• On examination, Lilly has
• soft, velvety, hyperextensible skin
• joint hypermobility (7/9 on the Beighton scale)
• wide, paper-thin scars on her elbows and knees
• large bruises in various stages of healing over
  her shins

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Case 1 (cont.)

• Furthermore,
• Lilly was born prematurely at 30 weeks gestation
  after spontaneous rupture of membranes
• Lilly sat, crawled, and walked later than
  expected
• Lillys dad has a similar medical history and
  physical findings
• There is no abnormality of collagen found in
  Lillys cultured skin cells

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Management of the Child with EDS, Classic Type

• MedicAlert tag
• Pads/bandages over sites of frequent trauma
• Wounds requiring stitches can be closed in 2
  layers and with the help of steri-strips or tape
  consider leaving stitches in place longer
• Local anesthetics may not be very effective
  consider waiting a longer time after
  administration to do procedure
• Consult with Plastic Surgery for repair of facial
  wounds
• Physical therapy to improve muscle strength

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Management (cont.)

• Avoidance of heavy lifting
• Avoidance of contact sports
• Echocardiogram(s) to look for floppy valve(s)
  and/or aortic root dilatation
• Anticipatory guidance regarding potential
  pregnancy complications, surgical complications,
  pain management, psychological implications
• Vitamin C supplementation

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Case 2 EDS, Hypermobility Type

• Jordan is a 5 yo boy who was noted on his
  pre-kindergarten physical exam to be unusually
  double-jointed. His parents say that he is
  generally healthy, but he has had nursemaids
  elbow repeatedly, and he can pop his shoulders
  out of joint at will. When asked, Jordan shows
  you his entire repertoire of stunts, which
  includes stepping through his clasped hands and
  bringing them all the way around his back and
  over his head without un-clasping them.

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Case 2 (cont.)

• On examination, Jordan has
• joint hypermobility (9/9 on the Beighton scale)
• soft, mildly hyperextensible skin
• normal scar formation

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Case 2 (cont.)

• Furthermore,
• Jordans mother and maternal grandfather have a
  history of frequent joint dislocations throughout
  childhood and adulthood and now suffer from
  multiple painful joints
• There is no abnormality of collagen found in
  Jordans cultured skin cells

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Management of the Child with EDS, Hypermobility
Type

• MedicAlert tag
• Avoidance of activities that promote dislocation
• Avoidance of heavy lifting
• Physical/occupational therapies to promote
  strengthening of muscles and improve fine motor
  skills non-weight-bearing exercises and
  hydrotherapy
• Pain management (pain is a major complication of
  this type of EDS)
• Psychological intervention as needed
• Echocardiogram(s)
• Vitamin C supplementation

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Case 3 EDS, Vascular Fragility Type

• Ellie is a 7 yo girl who was born with a
  clubfoot. When Ellie was 2 yo, her mom noticed a
  lump in Ellies groin while changing her diaper,
  and she was diagnosed with a hernia, which
  required surgical repair. Ellie has a history of
  frequent, easy bruising. She has very flexible
  fingers, and she receives occupational therapy in
  school due to difficulty with writing, buttoning
  her shirts, and snapping her pants.

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Case 3 (cont.)

• On examination, Ellie has
• a round face, delicate nose, and prominent eyes
• translucent skin with easily visualized veins,
  especially on the trunk
• delicate fingers that are markedly hypermobile
• multiple bruises, in various stages of healing,
  on the arms and legs

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Case 3 (cont.)

• Furthermore,
• Ellies maternal grandmother died at age 27 from
  complications of an arterial aneurysm
• Ellies mother has similar physical features to
  Ellie and has a history of intestinal rupture
• Ellie has laboratory findings consistent with
  EDS, Vascular Fragility Type, in cultured skin
  cells

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Management of the Child with EDS, Vascular
Fragility Type

• MedicAlert tag
• Avoidance of contact sports, heavy lifting
• Careful attention to complaints of headache,
  chest pain, abdominal pain
• Physical/occupational therapy as needed
• Psychological intervention as needed
• Echocardiogram(s)
• Anticipatory guidance for surgery,
  pregnancy/conservative management of vascular
  complications

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Case 4 EDS, Kyphoscoliotic Type

• Sam is a 10 yo boy with severe scoliosis that
  has required surgical intervention. His
  scoliosis was first noticed when he was a
  toddler, and his orthopedist thinks it was
  probably present at birth. As a baby, Sam was
  very hypotonic he sat alone at 10 months and
  walked at 2 years. Sam has had recurrent
  nursemaids elbow, and recently, he dislocated
  his knee when walking down stairs. He wears
  glasses for nearsightedness, which has progressed
  rapidly.

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Case 4 (cont.)

• On examination, Sam has
• A slender build
• Joint hypermobility (8/9 on the Beighton scale)
• Soft, stretchy skin
• Evidence for scoliosis repair with some scoliosis
  remaining
• Widened, paper-like scars
• Thick glasses

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Case 4 (cont.)

• Furthermore, Sam has
• no family history of similar features
• lysyl hydroxylase deficiency on biochemical
  testing of cultured skin cells
• a mildly dilated aortic root detected by
  echocardiogram

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Management of the Child with EDS, Kyphoscoliosis
Type

• MedicAlert tag
• Early identification of scoliosis with close
  monitoring by an orthopedist
• Regular ophthalmologic exams
• Avoidance of heavy lifting/contact sports
• Physical/occupational therapy beginning in
  infancy
• Echocardiogram(s)
• Vitamin C supplementation
• Maintaining good fluid intake
• Psychological intervention as needed

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Case 5 EDS, Arthrochalasia Type

• Anna is a 6 yo girl who was born with bilateral
  hip dislocation. Despite surgical repair of her
  hips, she continues to have pain in her hips and
  has an unusual gait. Her orthopedist says she
  will need further hip surgery. She is
  double-jointed and has had multiple joint
  dislocations. Recently, she was diagnosed with
  scoliosis.

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Case 5 (cont.)

• On examination, Anna has
• hypermobile joints with painful, and reduced,
  range of motion of the hips
• mildly stretchy skin with some widened scars
• scoliosis

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Case 5 (cont.)

• Furthermore, Anna has
• no family history of similar features
• an abnormality of collagen detected on
  biochemical analysis of cultured skin cells
  consistent with EDS, arthrochalasia type

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Management of the Child with EDS, Arthrochalasia
Type

• MedicAlert tag
• Ongoing orthopedic management
• Physical therapy as needed
• Avoidance of heavy lifting/contact sports
• Pain management
• Psychological intervention as needed
• Echocardiogram(s)?
• Vitamin C supplementation

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Adjustments in the Home for Children with EDS

• Avoid rugs that can slip
• Minimize sharp corners on furniture, hearth, etc.
• Padded furniture may be preferable to wooden or
  metal furniture
• A ranch-style house may be preferred if stairs
  are difficult
• Teach children to pick up toys and minimize
  rough-housing (haha!)

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Adjustments at School for Children with EDS

• Discuss, as you feel appropriate, your childs
  diagnosis with the principal/teachers (you may
  wish to provide literature)
• Ask that physical activity be closely monitored
  and that accidents/injuries be promptly reported
• Create a plan in case of injury
• Ask that physical activity be limited as
  recommended for your childs diagnosis, and
  provide documentation as necessary

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Adjustments at School (cont.)

• Children who must carry books to/around school
  should be allowed to have a rolling backpack
  and/or a separate set of books for school and
  home
• Have your child evaluated for physical/occupationa
  l therapy needs while at school
• Modifications should be made to desks, chairs,
  writing instruments, etc. as needed
• Most children with EDS do not have learning
  difficulties, but if there is a learning concern,
  this should be appropriately addressed

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Friends of the Child with EDS

• Dont need to know everything but do need to know
  activity rules and to report serious injury
• Are likely to ask questions answer them simply
• SHOULD BE ENCOURAGED AND NURTURED normalcy is
  important

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Who Manages the Child with EDS?

• Pediatrician
• Orthopedist
• Physical and/or occupational therapist
• Dentist
• Pediatric surgeon
• Dermatologist
• Plastic surgeon
• Geneticist/genetic counselor
• Nutritionist

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Who Manages? (cont.)

• Ophthalmologist
• Vascular surgeon
• Pediatric cardiologist
• Psychologist/psychiatrist
• Gynecologist
• Obstetrician
• Pain management specialist
• Pediatric rheumatologist

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Children with EDS are children first. Like all
children, they should be given every opportunity
to reach their full potential and to safely
experience what life has to offer.