Wednesday, November 14, 2012

FPWR Conference - Dr. Harold Van Bosse and Janice Agarwal, PT


Here are my notes from a joint presentation by a noted PWS orthopedist and a physical therapist who is very familiar with PWS (and has a son with PWS!). Enjoy!


Get it Going and Growing
Harold Van Bosse, M.D. and Janice Agarwal, PT, CNDT

Sitting 12 months average
Walking 24 months average
à delays are ok because it gives time for strength in the trunk and spine to develop

Infant PWS presents differently than PWS

Kids with PWS develop from their hands into their trunks instead of from the trunk out

Document what our children need so that there are standards developed for therapy

Risk of osteoporosis decreases with growth hormone therapy
à decreased bone mineral density
à 9-45% of adults in PWS with osteoporosis
à because of decreased pain sensitivity, people with PWS could be walking around with a bone fracture for a while without even knowing it

Kids with PWS start to hunch over usually before getting full-blown scoliosis (this is different from how it occurs in typical children)

40-90% of kids with PWS end up with curve >10%
15% with significant curves requiring bracing or surgery

Idiopathic scoliosis occurs in 1-4% of the population

Obesity does not make a difference with curves; does not cause curve
50% of curves happen before onset of obesity
2/3 of severe curves start before obesity

Curves probably a combination of obesity and hypotonia

Kids with PWS tend to hide their curves more à might look fine on physical exam, but still have significant curve on x-ray

Females have a ~10% higher chance of developing scoliosis; but both genders equal for risk of curve progression

UPD appears to have a slightly lower risk of developing scoliosis, but no type has a higher risk of progression

Age of diagnosis
-before 4th birthday, good prognosis à only 15% go on to surgery; some curves appear anecdotally to resolve
-after 4th birthday, mixed outcome à 41% go on to surgery
-probably represents “bimodal curve”

Infantile curves – birth to 3yo
à often can improve spontaneously
à some present relentlessly
à may be related to hypotonia and its improvement
Juvenile – 3 to 10 years of age


Treatment Rationale
-cardiopulmonary compromise in curves over 80-90 degrees, and pulmonary insufficiency, cor pulmonale (heart overworking)
-difficult to draw conclusions
-only few reported operative cases in literature
-treatment is PWS, and then the scoliosis

Physical therapy
-trunk strengthening
-sensory integration
-keep the young child down to develop normal gross motor skills

Screening
-yearly screening/radiographs starting once the child start sitting

theratogs and casting for patients under 3 years of age

bracing for curves larger than 20 degrees; prevents curve progression when upright, does not correct the curve

Surgery for curves larger than 45 degrees; Dr. Van Bosse tends to wait longer than that if possible

Therasuits
-soft proprioceptive orthotic à primarily used to restore alignment; proper function of postural muscles
-allow child to relearn proper motor patterns for functional movement

Casting
-old technique reborn à derotate chest, correct curve
-for children under 3 years old; cast under anesthesia
-casting schedule
            -under 2 yo, change every 2 months
            -over 2yo, change every 3 months
-finish when reach goal, reach plateau

Bracing
-for curves over 20-25 degrees
-for older kids
-and for infants to get curves down small enough
-prevent curve progression, do not make curve smaller
-ability to prevent progression changes from child to child and during different growth stages
-difficult to fit on obese children
-open brace in front à good brace (Boston brace)

Surgery
-for curves larger than 40-50 degrees
-align vertebrae
-holds in position with rods, hooks/wires/screws
-high rate of complications à infections, anesthetic, hardware failure/pseudoarthrosis
-growth rods: non fusion spinal instrumentation
            -only get about 5 years of hardware in them à use other techniques to bide time so that you don’t have to do this earlier and stop too long before growth plates close
-VEPTR à NOT for PWS, too many problems

Spinal fusion
-for curves over 50 degrees at maturity
-avoid anterior approach à high complication rate
-newer pedicle screw instrumentation à better in osteropenic bone

Surgery and PWS
-pulmonology workup à sleep study for apnea- possible ENT evaluation
-try to clean out with Miralax before surgery so that reduces changes of GI issues post-surgery
-anesthesia evaluation à assess airway management, ability to intubate, thickened saliva (avoid atropine), IV access (may need central line)
-have a phone number to call if things go wrong
-make sure they prophylactically treat child with meds because of low pain threshold and the child might not report pain to you
-skin picking à infections
-GI complications à gastro-mobility slows down (ileus); don’t feed them until hear some good gurgling in their stomachs, make sure they poop first before discharge

Cervico-thoracic kyphosis
-characteristic of PWS posture
-can be single problem
-can worsen after spinal surgery
Growth Hormone and Scoliosis
-concerns of worsening scoliosis with GH
            -this does happen with Turner’s syndrome and so people think same for PWS à not true
-scoliosis will progress comparative to amount of growth, regardless of how fast
-other orthopedic issues
            -hip dysplasia
            -foot deformities à pronation, laxity in ligaments and musculature
            -knock knees
            -bowlegs
            -limb length discrepancy

1 comment:

Isaac's Mom said...

Thanks so much for summarizing all of these!