Peds Unit 4: Progressive conditions, oncology, ASD, and SPD

what are the two most common types of muscular dystrophy

Duchenne

Beckers

what types of muscular dystrophy are Duchennes and Beckers

limb girdle

what is a key difference in Beckers muscular dystrophy compared to duchennes

beckers has a slower progression

what type of disease is Duchenne muscular dystrophy (DMD)

an X-linked recessive disease where the females are the carriers and males express the disease

what occurs in the cells in DMD

the mutated gene leads to abnormal or missing dystrophin within the muscle cell and leads to muscle cell damage with contraction

what occurs in the muscles with DMD

recurrent ischemia leading to progressive weakness

what occurs to the muscle cells and fibers once injured in DMD

they do not regenerate or heal

how is DMD diagnosed geneticlly

a genetic test is done early of there is a history of DMD or knowledge hat mother is a carrier

how is DMD diagnosed if it is unknown if the mother is a carrier

the condition usually isn't diagnosed until the child is 3-4 years old

what are some of the first signs of DMD (4)

weakness in the hip musculature

difficulty standing from the floor with Gowers maneuver

decreased ability to go up and down the stairs

clumsy

what is Gowers maneuver

when a child goes up into a bear position and walks their hands up their thigs until standing

when does death typically occur with DMD

around the third or fourth decade of life mostly due to respiratory issues or cardiac issues

how does DMD present

insidious muscle weakness starting in neck flexors, abdominals, interscapular muscles, and hip extensors

what muscles does DMD affect

the muscles of the shoulder and hip girdles

do pts with DMD maintain distal strength

up until the late stages

when is walking ability lost with DMD

in the early adolescent years eventually progressing to dependence with all mobility

why might muscle groups in DMD look well developed and msucular

pseudohypertrophy which is fat deposited in place of muscle fibers

are cognitive impairments seen in DMD

occasionally yes but most of the time the pts are fully aware of the progression of disease

what are DMD pts prone to due to skeletal muscle weakness in the trunk

scoliosis which can impact lung function

what is often required by early adulthood with DMD

they often need assisted ventilation to extend their life

where are contractures seen in DMD (4)

hip flexors

hamstrings

PF

IT band

why might pts with DMD be obese

due to being sedentary and taking steroids long term

what additional conditions may be seen with DMD (3)

fatigue

oral motor dysfunction

impaired GI mobility

what are the goals of using prolonged steroids (3)

prolonged walking

improved strength

improved pulmonary function

what are the side effects of prolonged steroid use (4)

weight gain

growth suppression

cataracts

osteoporosis

what surgeries may be done for DMD (2)

surgery for LE contractures

spinal stabilization surgery for scoliosis

what exercise is beneficial for DMD

submaximal exercise

what is the goal of PT once significant weakness sets in with PT (3)

minimize muscle contracture to maintain standing

manage DME

breathing exercises/postural drainage

what are the benefits of standing for DMD (4)

decrease contractures

keep the bones as strong as possible

decrease scoliosis

improve pulmonary function

what medical equipment can be used for DMD (3)

night splints to minimize contractures

mobile arm supports for feeding

mobility equipment

when should a wheelchair be ordered for pts with DMD

earlier since we know their endurance will decrease

what exercise should be avoided with DMD

high resistance exercise

eccentric strengthening

exercise to fatigue

what is the best way to assess loss of function with DMD

handheld dynamometry for objective strength measures

when can the termination of walking be predicted (3)

when they demonstrate 50% reduction in LE strength

hip extensor strength falls below a 3

ankle dorsiflexors strength below 4

what is used to assess endurance in DMD

6 min walk test

what tests can be used to predict gait cessation and progress through their disease

timed gowers

timed up and down four stair

times 10 meter run or walk

what is the North star ambulatory assessment

a DMD diagnosis specific measure to monitor progression of the disease and treatment affects

what type of disorder is SMA

an autosomal recessive disorder which results from the degeneration of the anterior horn cells and leads to progressive weakness

what is the anterior horn

the gray matter containing the motor neurons which innervate the skeletal muscles

how can SMA be diagnosed (5)

a newborn screen

electromyography

muscle US

muscle biopsy

genetic testing

what symptoms are seen in SMA

symmetrical weakness if skeletal muscles with the most weakness in the proximal musculature of the neck, trunk, pelvis, and shoulder girdles

what muscles experience the most weakness (4)

triceps

deltoids

iliopsoas

quadriceps

what muscles are typically preserved in SMA (3)

hand muscles

biceps

hamstrings

how does SMA present (4)

progressive wasting of voluntary muscle overtime

hypo or areflexia

hypotonia

fasciculations or tremors

what are fasciculations

brief contractions of the muscles commonly seen in the tongue and may not be observed with the naked eye

when are tremors or fasciculations seen with SMA

when the child is fatigues often indicating the intensity or load needs to be decreased

how may breathing and feeding be impacted with SMA

they may have difficulty with both

how is sensation impacted by SMA

children will have intact sensation

what is type I SMA

infantile onset diagnosed between 0-4 months that is rapidly progressive and presents wit severe weakness

how common is type I SMA

60% of SMA cases

when is death seen with type I SMA

death is secondary to pneumonia or other respiratory complication n the absence of medical care within a few months or years

what is type 2 SMA

the childhood onset where kids demonstrate symptom onset between 6-12 months with slow progression of weakness

what are the benefits of SMN modulation therpapy

gain of motor skills

what is seen in type 3 SMA

diagnosis between 1-10 years with a slower progression and mild impairments

what is type 4 SMA

SMA diagnosed in adulthood after the age of 35 presenting with mild weakness and live a normal lifespan

what function is seen with type I SMA (4)

children who wont be able to sit

significant impairment of head control

significant breathing and swallowing difficulty

muscle fasciculation of tongue

what function is seen in type II SMA (2)

children can sit but need significant support to stand

no functional ambulation

what is seen in function with type IIIA SMA (2)

50% can walk past age of 12

tongue fasciculations in 50%

what is seen in function in type IIIB SMA (2)

50% retain ability to walk past 44th birthday

tongue fasciculations in 50%

what secondary impairments are seen in SMA (2)

contractures

scoliosis

what muscles are common to get contractures in SMA (3)

hip flexors

hamstrings

PFs

why does scoliosis occur with SMA

postural compensations made due to excessive trunk weakness

how does gene modulation therapy help SMA

they target one of the two SMN1 or SMN2 genes to enhance the function in making the protein and changing the progression of the disease

what treatments are used with SMA

gene replacement therapy

SMN modulation therapy

neuroprotection of motor neurons or muscle protection

what is the focus of intervention in SMA type I (3)

positioning for flexibility

promote respiratory care

developmental activities

what is the focus of intervention with type II SMA (4)

challenging siting posture

promote developmental activities (standing between 12-18 months)

fitting for KAFOs to promote standing

mobility and respiratory care

what is the focus of intervention for type III SMA (3)

exercise

strengthening

endurance training

what is the most common type of childhood cancer

leukemia

what is leukemia

cancer of the blood forming cells and is found in the bone marrow

what are the types of leukemia (2)

acute lymphoblastic leukemia

acute myelocytic leukemia

what leukemia type has a better prognosis

ALL

what population is impacted by acute lymphoblastic leukemia (ALL)

2-5 year olds

what population is impacted by acute myelocytic leukemia (AML)

0-2 year olds

what is the treatment for leukemia (2)

long term chemotherapy

potential bone marrow or stem cell transplantation

how are brain and CNS tumors names

for the type of cell they originate

what are examples of brain or CNS tumors (3)

astrocytoma

medulloblastoma

ependymoma

what is the treatment for brain and CNS tumors

combination of chemo, radiation, and resection

what are the types of lymphomas

Hodgkin's

Non hodgkins

what does lymphoma impact

the blood

how is lymphoma treated (2)

chemotherapy and potentially bone marrow or stem cell transplant

occasionally radiation

what are sarcomas

solid tumors that arise in connective tissue such as muscle, bone, cartilage, and fat

what are the most common sarcomas (2)

osteosarcomas (bones)

Ewing sarcoma (bone and soft tissue around them)

what can happen with sarcomas

they may metastasize to the lungs, other bones, and bone marrow

what treatments are used for sarcomas (2)

chemo to shrink the tumor

surgery to remove the tumor followed by chemo

what is included in the treatment protocol made by the physician

type of treatment, length, and the doses

what should PTs understand about pediatric cancer treatment

when the child is immunocompromised or when they might undergo surgery

what are the acute side effects of radiation therapy (8)

nausea and vomiting

diarrhea

hair loss

mucositis

fatigue

pain

cognitive deficits

skin issues

what are the late side effects of radiation therapy (6)

fibrosis and tissue injury

infertility

cognitive deficits

osteoporosis

cardiac and pulmonary disease

increased risk for development of other cancer

what is chemotherapy

use of drugs to eradicate a tumor or slow tumor growth

how does chemotherapy work

they disrupt DNA structure inhibiting DNA and RNA synthesis or preventing cell division

what is the impact of chemo induced peripheral neuropathy (4)

foot drop

sensory changes

decreased hand or grip strength

impaired DTR

what are the acute side effects of chemo (7)

anemia

damage to bone marrow

loss of appetite

nausea and vomiting

constipation/diarrhea

mucositis

hair loss

what late effects are seen with chemo (4)

pulmonary, cardiac, endocrine, and reproductive dysfunction

peripheral neuropathy

osteonecrosis

myelosuppression

what is in the conditioning phase of a bone marrow or stem cell transplant

whole body radiation or short term high dose chemo

what is seen in the conditioning phase of bone marrow or stem cell transplants

significant myelosuppression and immunosuppression

what does a stem cell transplant do

they are infused and repopulate the bone marrow to give rise to the array of mature blood cells found in the circulation

what occurs after an infusion

the child stays in the hospital 28-35 days to see if the immune system starts to recover

what is graft versus host disease

the body rejects the transplantation

what WBC values should be considered for pediatric cancer and activity (2)

what platelet values should be considered for pediatric cancer and activity (3)