CARING FOR THE CARING FOR THE CHILD WITH CHILD WITH

EHLERS-DANLOS EHLERS-DANLOS SYNDROMESYNDROME

Tamison Jewett, M.D.Tamison Jewett, M.D.Associate ProfessorAssociate Professor

Department of PediatricsDepartment of PediatricsDirector, Clinical Genetics ServicesDirector, Clinical Genetics Services

Wake Forest University Health SciencesWake Forest University Health SciencesWinston-Salem, NCWinston-Salem, NC

EDSEDS

Occurs in ~1/5000 individuals (all Occurs in ~1/5000 individuals (all types combined)—much more common types combined)—much more common than once thoughtthan once thought

Can be highly variable within familiesCan be highly variable within families Is diagnosed based on family history, Is diagnosed based on family history,

symptoms, and physical exam findingssymptoms, and physical exam findings Laboratory confirmation is available in Laboratory confirmation is available in

the minority of casesthe minority of cases

How is EDS inherited?How is EDS inherited?

Most forms are autosomal dominantMost forms are autosomal dominant

Some forms are autosomal recessiveSome forms are autosomal recessive

A quick genetics A quick genetics lesson…lesson…

Ideogram of the human chromosomes

p-arm

q-arm<= centromere

autosomes

Sex chromosomes

NOR, ==>acrocentic

<= Xp21

Autosomal dominant Autosomal dominant inheritanceinheritance

Dd x dd

Dd dd Dd dd

Autosomal recessive Autosomal recessive inheritanceinheritance

Rr x Rr

RR rR Rr rr

A gene or genes may A gene or genes may change for the first change for the first

time in anyone. time in anyone. Therefore, a child Therefore, a child with EDS may not with EDS may not have a parent with have a parent with

EDS.EDS.

When should the diagnosis When should the diagnosis of EDS be considered in a of EDS be considered in a

child?child? When there is/are:When there is/are:

A positive family history of EDS in a first A positive family history of EDS in a first degree relative (mother, father, sister or degree relative (mother, father, sister or brother)brother)

The classical triad of hyperextensible joints, The classical triad of hyperextensible joints, hyperextensible skin, and poor wound hyperextensible skin, and poor wound healinghealing

Hypotonia (sometimes severe) in an Hypotonia (sometimes severe) in an infant/child of otherwise unknown causeinfant/child of otherwise unknown cause

Recurrent joint dislocationsRecurrent joint dislocations

When should the diagnosis When should the diagnosis of EDS be considered in a of EDS be considered in a

child? (cont.)child? (cont.) When there is/are:When there is/are:

Easy bruisingEasy bruising Early onset and/or rapidly progressive scoliosisEarly onset and/or rapidly progressive scoliosis Spontaneous pneumothoraxSpontaneous pneumothorax Arterial ruptureArterial rupture Intestinal ruptureIntestinal rupture Aortic root dilatationAortic root dilatation

How do we define joint How do we define joint hypermobility?hypermobility?

By using the Beighton criteria, as follows:By using the Beighton criteria, as follows:

1 point for passive dorsiflexion of each 51 point for passive dorsiflexion of each 5 thth finger greater than finger greater than 90 degrees90 degrees

1 point for apposition of each thumb to the flexor surface of 1 point for apposition of each thumb to the flexor surface of the forearmthe forearm

1 point for hyperextension of each elbow greater than 10 1 point for hyperextension of each elbow greater than 10 degreesdegrees

1 point for hyperextension of each knee greater than 10 1 point for hyperextension of each knee greater than 10 degreesdegrees

1 point for the ability to place the palms on the floor with the 1 point for the ability to place the palms on the floor with the knees fully extendedknees fully extended

A score of 5/9 or greater is consistent with joint hypermobility.A score of 5/9 or greater is consistent with joint hypermobility.

Case 1: EDS, Classic Case 1: EDS, Classic TypeType

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

Case 1 (cont.)Case 1 (cont.) On examination, Lilly has:On examination, Lilly has:

soft, velvety, hyperextensible skinsoft, velvety, hyperextensible skin

joint hypermobility (7/9 on the Beighton joint hypermobility (7/9 on the Beighton scale)scale)

wide, paper-thin scars on her elbows and wide, paper-thin scars on her elbows and kneesknees

large bruises in various stages of healing large bruises in various stages of healing over her shinsover her shins

Case 1 (cont.)Case 1 (cont.) Furthermore,Furthermore,

Lilly was born prematurely at 30 weeks’ gestation Lilly was born prematurely at 30 weeks’ gestation after spontaneous rupture of membranesafter spontaneous rupture of membranes

Lilly sat, crawled, and walked later than expectedLilly sat, crawled, and walked later than expected

Lilly’s dad has a similar medical history and Lilly’s dad has a similar medical history and physical findingsphysical findings

There is no abnormality of collagen found in There is no abnormality of collagen found in Lilly’s cultured skin cellsLilly’s cultured skin cells

Management of the Child Management of the Child with EDS, Classic Typewith EDS, Classic Type

MedicAlert tagMedicAlert tag Pads/bandages over sites of frequent traumaPads/bandages over sites of frequent trauma Wounds requiring stitches can be closed in 2 Wounds requiring stitches can be closed in 2

layers and with the help of steri-strips or layers and with the help of steri-strips or tape; consider leaving stitches in place longertape; consider leaving stitches in place longer

Local anesthetics may not be very effective; Local anesthetics may not be very effective; consider waiting a longer time after consider waiting a longer time after administration to do procedureadministration to do procedure

Consult with Plastic Surgery for repair of Consult with Plastic Surgery for repair of facial woundsfacial wounds

Physical therapy to improve muscle strengthPhysical therapy to improve muscle strength

Management (cont.)Management (cont.)

Avoidance of heavy liftingAvoidance of heavy lifting Avoidance of contact sportsAvoidance of contact sports Echocardiogram(s) to look for “floppy” Echocardiogram(s) to look for “floppy”

valve(s) and/or aortic root dilatationvalve(s) and/or aortic root dilatation Anticipatory guidance regarding Anticipatory guidance regarding

potential pregnancy complications, potential pregnancy complications, surgical complications, pain surgical complications, pain management, psychological implicationsmanagement, psychological implications

Vitamin C supplementation Vitamin C supplementation

Case 2: EDS, Hypermobility Case 2: EDS, Hypermobility TypeType

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

Case 2 (cont.)Case 2 (cont.)

On examination, Jordan hasOn examination, Jordan has

joint hypermobility (9/9 on the Beighton joint hypermobility (9/9 on the Beighton scale)scale)

soft, mildly hyperextensible skinsoft, mildly hyperextensible skin

normal scar formationnormal scar formation

Case 2 (cont.)Case 2 (cont.)

Furthermore,Furthermore,

Jordan’s mother and maternal Jordan’s mother and maternal grandfather have a history of frequent grandfather have a history of frequent joint dislocations throughout childhood joint dislocations throughout childhood and adulthood and now suffer from and adulthood and now suffer from multiple painful jointsmultiple painful joints

There is no abnormality of collagen found There is no abnormality of collagen found in Jordan’s cultured skin cellsin Jordan’s cultured skin cells

Management of the Child Management of the Child with EDS, Hypermobility with EDS, Hypermobility

TypeType MedicAlert tagMedicAlert tag Avoidance of activities that promote Avoidance of activities that promote

dislocationdislocation Avoidance of heavy liftingAvoidance of heavy lifting Physical/occupational therapies to promote Physical/occupational therapies to promote

strengthening of muscles and improve fine strengthening of muscles and improve fine motor skills; non-weight-bearing exercises and motor skills; non-weight-bearing exercises and hydrotherapyhydrotherapy

Pain management (pain is a major Pain management (pain is a major complication of this type of EDS)complication of this type of EDS)

Psychological intervention as neededPsychological intervention as needed Echocardiogram(s)Echocardiogram(s) Vitamin C supplementationVitamin C supplementation

Case 3: EDS, Vascular Case 3: EDS, Vascular Fragility TypeFragility Type

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

Case 3 (cont.)Case 3 (cont.) On examination, Ellie hasOn examination, Ellie has

a round face, delicate nose, and prominent eyesa round face, delicate nose, and prominent eyes

translucent skin with easily visualized veins, translucent skin with easily visualized veins, especially on the trunkespecially on the trunk

delicate fingers that are markedly hypermobiledelicate fingers that are markedly hypermobile

multiple bruises, in various stages of healing, on multiple bruises, in various stages of healing, on the arms and legsthe arms and legs

Case 3 (cont.)Case 3 (cont.)

Furthermore,Furthermore,

Ellie’s maternal grandmother died at age 27 Ellie’s maternal grandmother died at age 27 from complications of an arterial aneurysmfrom complications of an arterial aneurysm

Ellie’s mother has similar physical features to Ellie’s mother has similar physical features to Ellie and has a history of intestinal ruptureEllie and has a history of intestinal rupture

Ellie has laboratory findings consistent with Ellie has laboratory findings consistent with EDS, Vascular Fragility Type, in cultured skin EDS, Vascular Fragility Type, in cultured skin cellscells

Management of the Child Management of the Child with EDS, Vascular Fragility with EDS, Vascular Fragility

TypeType MedicAlert tagMedicAlert tag Avoidance of contact sports, heavy liftingAvoidance of contact sports, heavy lifting Careful attention to complaints of Careful attention to complaints of

headache, chest pain, abdominal painheadache, chest pain, abdominal pain Physical/occupational therapy as needed Physical/occupational therapy as needed Psychological intervention as neededPsychological intervention as needed Echocardiogram(s)Echocardiogram(s) Anticipatory guidance for surgery, Anticipatory guidance for surgery,

pregnancy/conservative management of pregnancy/conservative management of vascular complicationsvascular complications

Case 4: EDS, Kyphoscoliotic Case 4: EDS, Kyphoscoliotic TypeType

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

Case 4 (cont.)Case 4 (cont.)

On examination, Sam hasOn examination, Sam has

A slender buildA slender build Joint hypermobility (8/9 on the Beighton Joint hypermobility (8/9 on the Beighton

scale)scale) Soft, stretchy skinSoft, stretchy skin Evidence for scoliosis repair with some Evidence for scoliosis repair with some

scoliosis remainingscoliosis remaining Widened, paper-like scarsWidened, paper-like scars Thick glassesThick glasses

Case 4 (cont.)Case 4 (cont.)

Furthermore, Sam hasFurthermore, Sam has

no family history of similar featuresno family history of similar features

lysyl hydroxylase deficiency on lysyl hydroxylase deficiency on biochemical testing of cultured skin biochemical testing of cultured skin cellscells

a mildly dilated aortic root detected by a mildly dilated aortic root detected by echocardiogramechocardiogram

Management of the Child Management of the Child with EDS, Kyphoscoliosis with EDS, Kyphoscoliosis

TypeType MedicAlert tagMedicAlert tag Early identification of scoliosis with close Early identification of scoliosis with close

monitoring by an orthopedistmonitoring by an orthopedist Regular ophthalmologic examsRegular ophthalmologic exams Avoidance of heavy lifting/contact sportsAvoidance of heavy lifting/contact sports Physical/occupational therapy beginning in Physical/occupational therapy beginning in

infancyinfancy Echocardiogram(s)Echocardiogram(s) Vitamin C supplementationVitamin C supplementation Maintaining good fluid intakeMaintaining good fluid intake Psychological intervention as neededPsychological intervention as needed

Case 5: EDS, Case 5: EDS, Arthrochalasia TypeArthrochalasia Type

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

Case 5 (cont.)Case 5 (cont.)

On examination, Anna hasOn examination, Anna has

hypermobile joints with painful, and hypermobile joints with painful, and reduced, range of motion of the hipsreduced, range of motion of the hips

mildly stretchy skin with some widened mildly stretchy skin with some widened scarsscars

scoliosisscoliosis

Case 5 (cont.)Case 5 (cont.)

Furthermore, Anna hasFurthermore, Anna has

no family history of similar featuresno family history of similar features

an abnormality of collagen detected on an abnormality of collagen detected on biochemical analysis of cultured skin biochemical analysis of cultured skin cells consistent with EDS, cells consistent with EDS, arthrochalasia typearthrochalasia type

Management of the Child Management of the Child with EDS, Arthrochalasia with EDS, Arthrochalasia

TypeType MedicAlert tagMedicAlert tag Ongoing orthopedic managementOngoing orthopedic management Physical therapy as neededPhysical therapy as needed Avoidance of heavy lifting/contact Avoidance of heavy lifting/contact

sportssports Pain managementPain management Psychological intervention as neededPsychological intervention as needed Echocardiogram(s)?Echocardiogram(s)? Vitamin C supplementationVitamin C supplementation

Adjustments in the Home Adjustments in the Home for Children with EDSfor Children with EDS

Avoid rugs that can slipAvoid rugs that can slip Minimize sharp corners on furniture, Minimize sharp corners on furniture,

hearth, etc.hearth, etc. Padded furniture may be preferable Padded furniture may be preferable

to wooden or metal furnitureto wooden or metal furniture A ranch-style house may be preferred A ranch-style house may be preferred

if stairs are difficultif stairs are difficult Teach children to pick up toys and Teach children to pick up toys and

minimize rough-housing (haha!)minimize rough-housing (haha!)

Adjustments at School for Adjustments at School for Children with EDSChildren with EDS

Discuss, as you feel appropriate, your Discuss, as you feel appropriate, your child’s diagnosis with the child’s diagnosis with the principal/teachers (you may wish to principal/teachers (you may wish to provide literature)provide literature)

Ask that physical activity be closely Ask that physical activity be closely monitored and that accidents/injuries be monitored and that accidents/injuries be promptly reportedpromptly reported

Create a plan in case of injuryCreate a plan in case of injury Ask that physical activity be limited as Ask that physical activity be limited as

recommended for your child’s diagnosis, recommended for your child’s diagnosis, and provide documentation as necessaryand provide documentation as necessary

Adjustments at School Adjustments at School (cont.)(cont.)

Children who must carry books to/around Children who must carry books to/around school should be allowed to have a rolling school should be allowed to have a rolling backpack and/or a separate set of books for backpack and/or a separate set of books for school and homeschool and home

Have your child evaluated for Have your child evaluated for physical/occupational therapy needs while at physical/occupational therapy needs while at schoolschool

Modifications should be made to desks, chairs, Modifications should be made to desks, chairs, writing instruments, etc. as neededwriting instruments, etc. as needed

Most children with EDS do not have learning Most children with EDS do not have learning difficulties, but if there is a learning concern, difficulties, but if there is a learning concern, this should be appropriately addressedthis should be appropriately addressed

Friends of the Child with Friends of the Child with EDSEDS

Don’t need to know everything but do need Don’t need to know everything but do need to know “activity rules” and to report to know “activity rules” and to report serious injuryserious injury

Are likely to ask questions; answer them Are likely to ask questions; answer them simplysimply

SHOULD BE ENCOURAGED AND SHOULD BE ENCOURAGED AND NURTURED; normalcy is importantNURTURED; normalcy is important

Who Manages the Child Who Manages the Child with EDS?with EDS?

PediatricianPediatrician OrthopedistOrthopedist Physical and/or occupational therapistPhysical and/or occupational therapist DentistDentist Pediatric surgeonPediatric surgeon DermatologistDermatologist Plastic surgeonPlastic surgeon Geneticist/genetic counselorGeneticist/genetic counselor NutritionistNutritionist

Who Manages? (cont.)Who Manages? (cont.)

OphthalmologistOphthalmologist Vascular surgeonVascular surgeon Pediatric cardiologistPediatric cardiologist Psychologist/psychiatristPsychologist/psychiatrist GynecologistGynecologist ObstetricianObstetrician Pain management specialistPain management specialist Pediatric rheumatologistPediatric rheumatologist

Children with EDS Children with EDS are children first. are children first. Like all children, Like all children, they should be they should be

given every given every opportunity to opportunity to reach their full reach their full potential and to potential and to

safely experience safely experience what life has to what life has to

offer.offer.