Transcript CARING FOR THE CHILD WITH EHLERS

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
EDS
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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
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Laboratory confirmation is available in the minority
of cases
How is EDS inherited?
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Most forms are autosomal dominant
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Some forms are autosomal recessive
A quick genetics
lesson…
p-arm
<= centromere
q-arm
autosomes
NOR, ==>
acrocentic
Ideogram of the human chromosomes
<= Xp21
Sex chromosomes
Autosomal dominant inheritance
Dd x dd
Dd
dd
Dd
dd
Autosomal recessive inheritance
Rr x Rr
RR
rR
Rr
rr
A gene or genes may
change for the first time in
anyone. Therefore, a child
with EDS may not have a
parent with EDS.
When should the diagnosis of EDS
be considered in a child?
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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.)
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When there is/are:
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Easy bruising
Early onset and/or rapidly progressive scoliosis
Spontaneous pneumothorax
Arterial rupture
Intestinal rupture
Aortic root dilatation
How do we define joint
hypermobility?
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By using the Beighton criteria, as follows:
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1 point for passive dorsiflexion of each 5th finger greater than 90 degrees
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1 point for apposition of each thumb to the flexor surface of the forearm
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1 point for hyperextension of each elbow greater than 10 degrees
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1 point for hyperextension of each knee greater than 10 degrees
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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.
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 don’t know what causes most of them.
Case 1 (cont.)
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On examination, Lilly has:
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soft, velvety, hyperextensible skin
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joint hypermobility (7/9 on the Beighton scale)
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wide, paper-thin scars on her elbows and knees
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large bruises in various stages of healing over her
shins
Case 1 (cont.)
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Furthermore,
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Lilly was born prematurely at 30 weeks’ gestation after
spontaneous rupture of membranes
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Lilly sat, crawled, and walked later than expected
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Lilly’s dad has a similar medical history and physical findings
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There is no abnormality of collagen found in Lilly’s cultured
skin cells
Management of the Child with EDS,
Classic Type
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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
Management (cont.)
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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
Case 2: EDS, Hypermobility Type
Jordan is a 5 yo boy who was noted on his prekindergarten physical exam to be unusually
“double-jointed.” His parents say that he is
generally healthy, but he has had nursemaid’s
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.
Case 2 (cont.)
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On examination, Jordan has
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joint hypermobility (9/9 on the Beighton scale)
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soft, mildly hyperextensible skin
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normal scar formation
Case 2 (cont.)
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Furthermore,
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Jordan’s mother and maternal grandfather have a
history of frequent joint dislocations throughout
childhood and adulthood and now suffer from
multiple painful joints
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There is no abnormality of collagen found in
Jordan’s cultured skin cells
Management of the Child with EDS,
Hypermobility Type
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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
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
Ellie’s 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.
Case 3 (cont.)
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On examination, Ellie has
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a round face, delicate nose, and prominent eyes
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translucent skin with easily visualized veins, especially on the
trunk
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delicate fingers that are markedly hypermobile
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multiple bruises, in various stages of healing, on the arms and
legs
Case 3 (cont.)
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Furthermore,
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Ellie’s maternal grandmother died at age 27 from
complications of an arterial aneurysm
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Ellie’s mother has similar physical features to Ellie and has a
history of intestinal rupture
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Ellie has laboratory findings consistent with EDS, Vascular
Fragility Type, in cultured skin cells
Management of the Child with EDS,
Vascular Fragility Type
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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
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 nursemaid’s elbow, and
recently, he dislocated his knee when walking
down stairs. He wears glasses for
nearsightedness, which has progressed rapidly.
Case 4 (cont.)
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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.)
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Furthermore, Sam has
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no family history of similar features
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lysyl hydroxylase deficiency on biochemical testing
of cultured skin cells
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a mildly dilated aortic root detected by
echocardiogram
Management of the Child with EDS,
Kyphoscoliosis Type
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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
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 “doublejointed” and has had multiple joint dislocations.
Recently, she was diagnosed with scoliosis.
Case 5 (cont.)
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On examination, Anna has
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hypermobile joints with painful, and reduced, range
of motion of the hips
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mildly stretchy skin with some widened scars
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scoliosis
Case 5 (cont.)
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Furthermore, Anna has
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no family history of similar features
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an abnormality of collagen detected on biochemical
analysis of cultured skin cells consistent with EDS,
arthrochalasia type
Management of the Child with EDS,
Arthrochalasia Type
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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
Adjustments in the Home for
Children with EDS
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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!)
Adjustments at School for Children
with EDS
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Discuss, as you feel appropriate, your child’s
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 child’s diagnosis, and
provide documentation as necessary
Adjustments at School (cont.)
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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/occupational
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
Friends of the Child with EDS
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Don’t need to know everything but do need to
know “activity rules” and to report serious
injury
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Are likely to ask questions; answer them simply
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SHOULD BE ENCOURAGED AND
NURTURED; normalcy is important
Who Manages the Child with EDS?
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Pediatrician
Orthopedist
Physical and/or occupational therapist
Dentist
Pediatric surgeon
Dermatologist
Plastic surgeon
Geneticist/genetic counselor
Nutritionist
Who Manages? (cont.)
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Ophthalmologist
Vascular surgeon
Pediatric cardiologist
Psychologist/psychiatrist
Gynecologist
Obstetrician
Pain management specialist
Pediatric rheumatologist
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.