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CARING FOR THE CHILD WITH EHLERS-DANLOS SYNDROME

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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CARING FOR THE CHILD WITH EHLERS-DANLOS SYNDROME

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  1. 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

  2. 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

  3. How is EDS inherited? • Most forms are autosomal dominant • Some forms are autosomal recessive

  4. A quick genetics lesson…

  5. p-arm <= centromere q-arm autosomes <= Xp21 NOR, ==> acrocentic Sex chromosomes Ideogram of the human chromosomes

  6. Autosomal dominant inheritance

  7. Autosomal recessive inheritance

  8. A gene or genes may change for the first time in anyone. Therefore, a child with EDS may not have a parent with EDS.

  9. 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

  10. 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

  11. 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.

  12. 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.

  13. 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

  14. 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 • Lilly’s dad has a similar medical history and physical findings • There is no abnormality of collagen found in Lilly’s cultured skin cells

  15. 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

  16. 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

  17. 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 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.

  18. Case 2 (cont.) • On examination, Jordan has • joint hypermobility (9/9 on the Beighton scale) • soft, mildly hyperextensible skin • normal scar formation

  19. Case 2 (cont.) • Furthermore, • Jordan’s 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 Jordan’s cultured skin cells

  20. 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

  21. 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.

  22. 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

  23. Case 3 (cont.) • Furthermore, • Ellie’s maternal grandmother died at age 27 from complications of an arterial aneurysm • Ellie’s 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

  24. 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

  25. 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.

  26. 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

  27. 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

  28. 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

  29. 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.

  30. 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

  31. 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

  32. 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

  33. 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!)

  34. Adjustments at School for Children with EDS • 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

  35. 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/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

  36. Friends of the Child with EDS • Don’t 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

  37. Who Manages the Child with EDS? • Pediatrician • Orthopedist • Physical and/or occupational therapist • Dentist • Pediatric surgeon • Dermatologist • Plastic surgeon • Geneticist/genetic counselor • Nutritionist

  38. Who Manages? (cont.) • Ophthalmologist • Vascular surgeon • Pediatric cardiologist • Psychologist/psychiatrist • Gynecologist • Obstetrician • Pain management specialist • Pediatric rheumatologist

  39. 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.

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