Neuro Peds - 03 - DS, MMC, DMD, PDD Flashcards
general definition of Down Syndrome:
leading chromosomal cause of mental retardation
most frequently reported birth defect
trisomy 21
extra chromosome
three causes of Down Syndrome are:
trisomy 21 - extra copy on 21
mosaicism - some trisomy 21, some regular
translocation - some bits of c21 are attached in wrong place
incidence of Down Syndrome
1 in 691
more than 400,000 in US
characteristics of Down Syndrome
head - small ears - small neck - extra fold eyes - upward slant, epicanthal folds face - flat joint laxity AAI - between C1 and C2 Congenital Heart Defects - no chambers Impaired Respiratory Functions - due to poor posture
developmental milestones of Down Syndrome
later than for typical developing child
example - walking at 30 months instead of 12
goals of PT for Down Syndrome
Balance Training Strength Training Endurance Training
Decrease the development of abnormal compensatory movement patterns that children with DS are likely to develop
attend to joint laxity
- which means attend to posture, gait
- which means attend to hip, patellar instability, decreased ROM
- which means attend to pes planus, genu recurvatum
What are common sitting postures for a child with Down Syndrome?
due to low tone, child will
- substitute positional stability for muscular stability
- W sit
- prop sit
- exhibit kyphosis, posterior pelvic tilt, head resting on shoulders
- avoid activating trunk to move from prone to sit by moving through widely abducted LE
what about standing postures in Down Syndrome?
due to low tone, child will exhibit
- pes planus
- genu recurvatum
- hip, patellar instability
what about gait patterns in Down Syndrome?
due to ligament laxity and low tone, ''Chaplinesque'' pattern with external rotation of the hips, increased knee flexion and valgus and external rotation of the tibia. flat feet contribute to deviations (vague, ugh) ROM is limited, apparently
what about learning styles of children with Down Syndrome?
takes longer to get it will do what everyone else is doing awesome mimic give them time to process be patient with repetition
general definition of Spina Bifida
the bony defect that occurs when the posterior vertebral arches fail to close in the midline to form a spinous process
three kinds of Spina Bifiida
Spina Bifida Occulta
Spina Bifida Cystica Meningocele
Spina Bifidia Cystica Myelomeningocele or MMC
describe Spina Bifida Occulta
vertebral defect in which posterior elements of the vertebral arch fail to close; no sac; vertebral defect usually not associated with an abnormality of the spinal cord; tuft of hair
describe Spina Bifidia Cystica Meningocele
vertebral defect with a protruding cyst of meninges
cyst containing cerebrospinal fluid and meninges and usually covered with epithelium
clinical symptoms variable
describe MMC (spina bifida cystica myelomeningocele)
- vertebral defect with a protruding cyst of spinal cord and meninges
- cyst containing cerebrospinal fluid, meninges, spinal cord, (and nerve roots)
- cord incompletely formed or malformed
- most common in lumbar area
- higher the lesion, the more deficits
incidence of MMC
1-2 in 1000 births in US
10 in 1000 births in China
if sibling had it, then 2-3% chance of recurrence
1 in 1000 all types neural tube defect
etiology of MMC
mostly don’t really know
genetic predisposition
exposure to alchohol
lack of folic acid
combination, genetic, environmental, nutritional
characteristics of MMC
hydrocephalus - shunts - be vigilant for malfunction Arnold Chiari Malformation scoliosis club foot leg paralysis/parasthesia tethering cord UTIs renal failure hip dislocations/sublux/dysplasia latex allergy - look for alert bracelet osteoporosis - not enough weight bearing obesity autonomic dysreflexia
describe Tethered Cord Syndrome
scarring from surgical repair of the lesion can produce adhesions which may anchor the spinal cord
as child grows, spinal cord is stuck
- This can cause progressive neurologic dysfunction such as motor and sensory function decline, pain, loss of bladder and bowel control, scoliosis, and changes in gait.
describe Arnold Chiari Malformation
- malformation of cerebellum, medulla, cervical bit of spinal cord
- CSF is obstructed, causing build up in the ventricles, leading to hydrocephalus
Spinal Cord Levels and Function
T6-9: Upper trunk functional, LE not functional
T9-T12: Abs + paraspinals, some pelvic control
L1: complete trunk function, weak hip flexors
L2: hip flexors, hip abductors
L3: knee extensors
L4: medial knee flexors, ankle dorsiflexors
L5: hip abductors (weak), lateral knee flexors, ankle invertors, long toe extensors
S1: hip abductors, weak hip extensors, weak plantar flexors
S2: hip extensors, plantar flexors, Toe flexors
general PT for MMC
ROM
Weight bearing
Gait training
note that while PT will seem similar to SCI, these patients are not relearning, they are learning for the first time. body is still developing
Three Stages
First Stage PT Goals for MMC
- birth to ambulation *
1. Prevent secondary complications - (Contractures, deformities, and skin breakdown)
2. Promote age appropriate sensorimotor development
3. Prepare child for ambulation
4. Educate the family about appropriate strategies to manage the child’s condition
What is the most important PT in stage one for MMC?
educate parent how to interact with the child!
First Stage PT for MMC
ROM - to prevent contractures
Casting to stretch foot soft tissues
Adduction Splint - hip dysplasia, legs to neutral
Upright weight bearing with weight shifting - for ambulate
Treadmill training
Skin maintenance
Sensory precautions - tickle to find dead spots
Prone positioning for facilitating head control
Prone on Therapy ball for weight shift and righting reactions
Quadruped for UE strength
Second Stage PT Goals for MMC
- toddler - school years *
1. Ambulation and independent mobility.
2. Continued improvements in flexibility, strength, and endurance.
3. Independence in pressure relief, self-care, and ADL’s.
4. Promotion of ongoing cognitive and social-emotional development.
5. Identification of perceptual problems that may interfere with learning.
6. Collaboration with family, school, and health care providers for total management.
Second Stage MMC PT interventions for Ambulation
12-18 months - parapodium for weight bearing/shifting, UE movement
24-36 months - RGO
36 months - school years - HKAFO and reverse walker
Second Stage MMC PT interventions for Strength
LE - e-stim over night - lumbar trunk - glutes UE activities (as for SCI) - lifting weighted balls, tug of war, push up blocks for press ups
Second Stage MMC PT interventions for Endurance
aerobics swimming dance ball games scooter-ing
Second Stage MMC PT interventions for Pressure Relief
patient education
(already did parent/family ed ages ago)
implement schedule for child to become independent in pressure relief management
Second Stage MMC PT interventions for Promotion of Cognitive and Social Emotional Growth
Scooter boards
- allow Jacob to explore his surroundings
as well as
- receive vestibular input
- allow for weight bearing through his UE’s
Third Stage MMC goals for PT
- school years - adolescence - adult *
1. Reevaluation of ambulation potential
2. Mobility for home, school, and community distances
3. Continued improvements in flexibility, strength, and endurance
4. Independence in ADLs
5. Physical fitness and participation in recreational activities
Third Stage MMC PT interventions
re-evaluate ambulation potential - there may be losses in mobility
strength, endurance, flexibility (as with SCI) - strategy to keep patient interest (video game), continue community exercise (swim, ball, aerobics)
weight management - prevent obesity
driver education - transfer car<>chair
bladder/bowel program - adherence to avoid skin breakdown, stinky, incontinence
BADLs/IADLs - looking forward to Independent living
What are some of the changes that could contribute to loss of mobility by Third Stage MMC?
- Changes in bone length
- Changes in body composition and biomechanics of movement
- Progression of neurologic defect
- Immobilization resulting from skin breakdown or surgery
- Progression of spinal deformity
- Joint pain or ligamentous laxity
What is the difference between a Complete SCI and an Incomplete SCI?
“complete” spinal cord injuries refer to any injury that results in the complete loss of function below the point of injury.
“incomplete” injury refers to a spinal cord injury in which some feeling or movement is still evident below the point of injury.
What is Muscular Dystrophy?
Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.
different kinds: Becker muscular dystrophy Duchenne muscular dystrophy Emery-Dreifuss muscular dystrophy Facioscapulohumeral muscular dystrophy Limb-girdle muscular dystrophy Oculopharyngeal muscular dystrophy
What is Duchenne Muscular Dystrophy?
DMD
x-linked recessive, affects mainly boys, rarely girls
missing Dystrophin - a protein needed for muscles to work
progressive muscle degeneration and weakness
(one of nine types of MD)
tell me about Dystrophin:
This protein is located primarily in muscles used for movement (skeletal muscles) and in heart (cardiac) muscle. Small amounts of dystrophin are present in nerve cells in the brain.
In skeletal and cardiac muscles, dystrophin is part of a group of proteins (a protein complex) that work together to strengthen muscle fibers and protect them from injury as muscles contract and relax. The dystrophin complex acts as an anchor, connecting each muscle cell’s structural framework (cytoskeleton) with the lattice of proteins and other molecules outside the cell (extracellular matrix). The dystrophin complex may also play a role in cell signaling by interacting with proteins that send and receive chemical signals.
What is the incidence of DMD?
- Annual Incidence rate worldwide is 1 in 3,000 males
- Incidence rate in the United States: ~1 in 6,000 or .02% or 45,333 children - 3,777 children per month - 871 children per week - 125 children per day - 5 children per hour
- 2/3 of cases are inherited
- 1/3 or cases result from spontaneous mutation
When do you start to see signs of DMD?
When is DMD typically diagnosed?
- 2.5 years– average age first symptoms are noticed
- 3.6 years– average age that concerns about symptoms result in a primary care provider examining the child
- 4.7 years– average age the first creatine kinase (CK) test is done
- 4.6 years– average age of DMD diagnosis
What signs may indicate DMD?
- Difficulty jumping/hopping
- Trouble with running
- Unable to climb the stairs
- Walking on tiptoes
- Frequent Falls
describe Gower’s Sign/Maneuver
first get on hands and knees,
then elevate the posterior,
then “walk” hands up the legs to raise the upper body.
what are the characteristics of DMD?
i. Children start out at typical development
ii. Weakness starts in legs and pelvis
iii. Gower’s sign
iv. Muscle weakness (know what mm primarily affected)
v. Difficulty with motor skills
vi. Muscles may appear large (know which mm primarily)
vii. Progressive disease
viii. Lots of falls
ix. Ability to walk usually lost by age 12
x. Know standing and walking pattern: great pic in presentation
xi. Know functional limitations at the different stages
xii. Gait compensations
xiii. Scoliosis
xiv. Heart Dilated and Hypertrophic Cardiomyopathy
Which muscles will show pseudohypertrophy in boys with DMD?
primarly the calf muscles
muscle fiber is replaced with fat and connective tissue
Which muscles will primarily be affected by weakness in boys with DMD?
Ankle dorsiflexors Hip extensors (gluteus maximus) Hip abductors (gluteus medius) Hip adductors Abdominals Neck flexors (sternocleidomastoid) Shoulder depressors & extensors (lower traps & lats) Shoulder abductors (deltoids) Elbow extensors (triceps)
How will a boy with DMD compensate for weak muscles in his gait?
- Increased lumbar lordosis
- Lack of heelstrike
- Increased hip flexion during swing to clear foot
- Pronation and Eversion
- Cadence decreases
- Waddling gait as he does not get adequate forward weight shift
- Increase UE abduction and lateral trunk sway
- Gower’s Maneuver
- Neck and UE weakness not usually noticeable functionally but apparent with testing
What are the PT guidelines for DMD?
Safe Exercise
- flexibility exercise (passive/active)
- low-impact aerobic exercise (cycling or swimming)
- Isokinetic
- uni-directional strength exercise (concentric-only or eccentric-only)
- exercise prescription should be tailored to meet the demands of each individual to avoid possible adverse effects of exercise.
- should NOT exercise until the point of fatigue
What is the PT goal for DMD?
to allow greater motion in the joints
to prevent contractures and scoliosis
What are the PT contraindications for DMD?
- Muscle damaging eccentric exercise (i.e. downhill running or walking)
- Ballistic Stretching
- Sitting or lying for extended periods of time
What is PDD?
Pervasive Development Disorders
a group of disorderscharacterized by delays in thedevelopmentof multiple basic functions including socialization and communication
Name the 5 disorders included in the PDD group:
Autism Spectrum Asperger Syndrome Rett Syndrome Childhood Disintegrative Disorder (CDD) PDD-NOS (not otherwise specified)
Know the different ideas on the spectrum:
There is considerable overlap among the different forms of autism. The wide variation in symptoms among children with autism, however, has led to the concept of autism spectrum disorder, or ASD.
The new diagnostic manual has made some major changes in this list of disorders. It’s unclear, though, how these changes will affect the way health professionals define exactly what is an autistic spectrum disorder.
What is Rett Syndrome?
Rare disorder
General PDD Symptoms with physical development problems
Loss of motor movement skills i.e.. Walking and use of their hands
Poor coordination
Linked to defect on X chromosome
What are the characteristics of Rett Syndrome?
neurodevelopmental disorder, possibly X-linked mental retardation ataxia growth retardation hypotonia, then hypertonia loss of acquired skills loss of purposeful use of hands - wringing, rubbing decreased ability to communicate seizure activity scoliosis
What is Asperger Syndrome?
Asperger’s syndrome, also called Asperger’s disorder, is a type of pervasive developmental disorder (PDD). PDDs are a group of conditions that involve delays in the development of many basic skills, most notably the ability to socialize with others, to communicate, and to use imagination.
Although Asperger’s syndrome is similar in some ways to autism, there are some important differences. Children with Asperger’s syndrome typically function better than do those with autism. In addition, children with Asperger’s syndrome generally have normal intelligence and near-normal language development, although they may develop problems communicating as they get older.
What are the characteristics of Asperger Syndrome?
- Difficulty socializing and communication (like Autism)
- Narrow range of interests
- Average or above average intelligence
- Develop normally in language & cognition
- Difficulty concentrating
- May have poor coordination
- Appears when language skills appear and children have limited focus and unusual patterns of speech
What is Autism?
The word “autism,” which has been in use for about 100 years, comes from the Greek word “autos,” meaning “self.” The term describes conditions in which a person is removed from social interaction – hence, an isolated self
Autism belongs to a group of developmental disabilities called autism spectrum disorders. The name “spectrum “ stems from the fact that these disorders affect each child differently. These disorders involve delays in the development of many basic skills, including the abilities to socialize or form relationships with others and to communicate effectively. Children with autism may also have intellectual disabilities and behavioral challenges.
In what three areas are the characteristics of Autism most visible?
What are some other characteristics or symptoms of Autism?
Behavior
Communication
Social Interaction - most common
Does not respond in a typical way to all sensations
Under or Over react to pain or loud noise
May eat dirt or rocks ( Pica)
Aggression
Harm to oneself
Temper tantrums
What is the etiology of Autism?
There is no known single cause for autism spectrum disorder, but it is generally accepted that it is caused by abnormalities in brain structure or function. Brain scans show differences in the shape and structure of the brain in children with autism compared to in neurotypical children. Researchers do not know the exact cause of autism but are investigating a number of theories, including the links among heredity, genetics and medical problems.
http://www.autism-society.org/what-is/causes/
What are the functional limitations of Autism?
- Limited vocabulary, echolalia
- Understanding language emphasis and tone variations
- Using or understanding nonverbal means of communication e.g. eye contact, facial expressions, body language, gestures
- Difficulty understanding similes, metaphors, humorous, ironic or sarcastic remarks
- Difficulties in planning and organizing activities
- Difficulty with imagination
- Problems understanding personal space
- Trouble understanding the thoughts, feelings, and emotional distress in others and/or talking about own feelings
- Limited or no insight of self
- Indulging in repetitive and stereotypical behaviour
- Unusual eating and sleeping habits
- Maintaining rigid and inflexible routines (e.g. eating the same food every day, watching the same videos)
- Difficult, bizarre or challenging behaviour if routine is changed.
- Repetition of the same comments or question
- Problems with personal care
- Unusual reactions to the way things sound, smell, taste, look, or feel
What are the treatment techniques for a person with Autism?
Physical therapy may be an option for children with autism who need help developing age-appropriate motor skills, have low muscle tone, or have problems with physical systems such as breathing control. Older autistic children can also benefit from carefully constructed exercise programs, which may be led by a physical therapist
http://www.everydayhealth.com/autism/physical-therapy.aspx
What are the Communication characteristics of Autism?
- Delayed speech, language
- Repeat phrases
- Reverses pronouns
- Difficulty understanding
- Does not point
- Uses few or no gestures
- Talks in a flat, robot-like, or sing song voice
- about 40% do not speak at all
What are the Social Interaction characteristics of Autism?
- Does not respond to name by 12 months of age
- Avoids eye contact
- Prefers to play alone
- Does not share interests with others
- Has a flat or inappropriate facial expression
- Does not understand personal space boundaries
- Does not like to hug or be hugged
- Others can not help at times of distress
What are the Behavioral characteristics of Autism?
Self-stimulation (stimming)
- repeatedly turning light on and off
- spin the wheels of a toy car
Thrive on routine
- Lines up toys or other objects
- Plays with the same toys the same way every time
- Likes parts of objects (wheels)
- Is very organized
- Gets upset by minor changes
- Flaps hands, rocks body, or spins self in circles
Don’t forget Sternal Precautions!!
- Do not lift heavy objects
- Do not push or pull with your arms when moving in bed and getting out of bed.
- Do not flex or extend your shoulders over 90°.
- Do not hold your breath during activity.
- Avoid reaching too far across your body.
- Avoid twisting or deep bending.
- Avoid long periods of over the shoulder activity.
- Brace your chest when coughing or sneezing. This is vital during the first 2 weeks at home.
- If you feel any pulling or stretching in your chest, stop what you are doing. Do not repeat thohe motion that caused this feeling.
- Report any clicking or popping noise around your chest bone to your surgeon right away.
guidelines for treatment of DS (and mostly all of them)
- Know when to quit
- Be strategic when planning session
- Be strategic in providing support
- Skills will be learned grossly at first and then refined
- Do not interfere with established skill in which the child has achieved independently
- Minimize distractions
- Quality versus quantity
how will the therapist teach correct sitting posture?
PT must teach child proper sitting posture
- by providing support at the proper level even before the child is able to sit independently.
Therapist will provide support
- first to upper trunk,
- secondly to middle trunk,
- then between scapula and waist
- and lastly, to the pelvis.
how will the therapist teach correct standing posture?
Feet positioned under hips,
point straight ahead
with slight flexion in the knees
tell me about functional ambulation
- Community ambulator – indoors or outdoors, crutches with or without braces (innervated at L5 – S1 levels and below)
- Household or community-aided ambulator – only indoors, crutches with or without braces (innervated at L3 – L4)(Classroom ambulation is capable at the L1 – L2 level)
- Therapeutic or Nonfunctional ambulator – wheelchair, crutches, and braces, in therapy
- Nonambulator – wheelchair bound (above T12)
