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Land and Aquatic Based Physical Therapy Interventions to Improve Mobility and Strength
on a 53 month old child with Charcot Marie Tooth Type 1a and Seizure Disorder: A Case
Report
A Capstone Project for PTY 768
Presented to the Faculty of the Physical Therapy Department
The Sage Colleges
School of Health Sciences
In Partial Fulfillment
of the Requirements for the Degree of
Doctor of Physical Therapy
Kimberly Snyder, SPT, LMT
May 2011
Approved:
_________________________________
Gabriele Moriello, PT, PhD, MS, GCS
Research Advisor
_________________________________
Patricia Pohl, PT, PhD
Program Director and Chair, Doctor of Physical Therapy Program
SAGE GRADUATE SCHOOLS
I hereby give permission to Sage Graduate Schools to use my work,
Land and Aquatic Based Physical Therapy Interventions to Improve Mobility and Strength
on a 53 month old child with Charcot Marie Tooth Type 1a and Seizure Disorder: A Case
Report
For the following purposes:
- Place in the Sage Colleges Library collection and reproduce for Interlibrary
Loan.
- Keep in the Program office or library for use by students, faculty,
or staff.
- Reproduce for distribution to other students, faculty, or staff.
- Show to other students, faculty or outside individuals, such as accreditors
or licensing agencies, as an example of student work.
- Use as a resource for professional or academic work by faculty or staff.
Kimberly Snyder, SPT, LMT Date
I represent to The Sage Colleges that this project and abstract are the original work of the
author, and do not infringe on the copyright or other rights of others.
Land and Aquatic Based Physical Therapy Interventions to Improve Mobility and Strength
on a 53 month old child with Charcot Marie Tooth Type 1a and Seizure Disorder: A Case
Report
________________________________________________________________________
Kimberly Snyder, SPT, LMT Date
Land and Aquatic Based Physical Therapy Interventions
to Improve Mobility and Strength on a 53 month old child with Charcot Marie Tooth Type
1a and Seizure Disorder: A Case Report
Kimberly Snyder, SPT, LMT
Abstract
Background and Purpose: There is a lack of research regarding the effect of a combination
of land and aquatic therapy program in those with Charcot Marie Tooth (CMT). The
purpose of this case study was to document functional outcomes of a combination of land
and aquatic therapy on a child with CMT type 1a. Case Description: The participant was a
53 month old boy with CMT type 1a and seizure disorder. In the fall of 2009, he required
maximal to moderate assistance in all transfers, sitting balance and in a gait trainer for
ambulation. He received physical therapy land sessions 3x/week for 30 minutes and
aquatic therapy 2x/week for 30 minute sessions. Therapy sessions focused on gait training,
transfers, standing balance, sitting balance and sitting tolerance. Outcomes: By 2010 the
participant made significant improvements in his gait, transfers, sitting balance and sitting
tolerance. His biggest accomplishment was his ability to ambulate in the Rifton Pacer with
decreased assistance. Another gain he made was actively standing up from a child‟s chair
given only moderate to minimal support. He also improved his sitting balance and sitting
tolerance both on a chair and on a mat. Discussion: The results of this case report
demonstrated that the combination of land and aquatic therapy may result in successful
outcomes for a child with CMT type 1a. Therapeutic interventions focused on repetition
and variety of environment changes to encourage motor. Although there were threats to the
internal and external validity, this case study still offers implications for clinicians working
with a child with type 1a CMT.
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Background and Purpose
Charcot Marie Tooth (CMT) is one of the most common hereditary neurological
disorders in the United States. CMT affects 1 out of every 2500 people. It is predominantly
diagnosed in adolescents and young adults1,2
and affects men, women and all races equally.3
Life expectancy for this population in general is normal although those who are more disabled
tend to have a shorter life span.1 There are 7 types of CMT, the most prevalent being type
1a/CMT1. Thomas and colleagues found that 5% of people with type 1a CMT develop clinical
evidence of the disease before the age of 10, and 85% before the age of 20.3
Type 1a is caused by a duplication of the PMP22 gene on Chromosome 17. PMP22 is a
peripheral myelin protein. Instead of having two copies of the gene (one on each paired
chromosome), there are three copies, two on one chromosome and one on the other. The
PMP-22 protein is a critical component of the myelin sheath which is responsible for Schwann
cell growth and differentiation. The overabundance of the protein PMP-22 impairs the ability
to have normal myelin stability and turnover.1,4
Demyelization of the sensory and motor tracts results in sensory and motor
impairments. These impairments present themselves during the first or second decades of life
and progress throughout life. The first signs of the disease include clumsiness in gait, foot
deformities (high arch), foot drop, decreased strength and an inverted champagne bottle of the
lower extremities.4,5
As the disease progresses, there are further decreases in strength in the
distal lower extremities and intrinsic hand muscles, which can cause hammer toes. Sensory
losses occur as the disease progresses, and with increased nerve dysfunction there are
impairments in vibratory and proprioception which can result in impairments in balance.5
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The severity of CMT ranges from delayed motor milestones to severe skeletal
deformities like scoliosis and hip dysplasia.1,2
Parsons found that 44% of people with type 1a
CMT were significantly disabled and 18% were depressed. In rare cases severe disability
occurs and people with CMT require a wheelchair for mobility.3 Electromyography (EMG)
and nerve conduction tests are often used to find specific abnormalities associated with CMT
such as axon degeneration and/or slow nerve conduction. In some cases, nerve biopsies are
performed to confirm a CMT type 1a diagnosis.1,4,6
Physical therapy, occupational therapy, orthopedic devices, medications and surgery
are often used in the treatment of CMT.6 Physical therapy interventions focus on strength
training, stretching, functional training and increasing aerobic capacity for endurance in
activities.1,6
Increasing strength in people with CMT may help deter further atrophy of the
muscles and can help decrease fatigue. Focus for strengthening exercises is on the distal
muscles in the lower extremities; but as CMT progresses, therapy may require strengthening of
the hands and forearm.6,8
Although exercise is helpful for people with CMT, overexertion must
be avoided so the fragile muscles and joints are not injured.3 Stretching helps to decrease the
strain that is placed on the joints which can help decrease pain and decrease tendon
retraction.3,6
People with CMT also have shown to have reduced peak oxygen consumption
and decreased functional aerobic capacity. By adding aerobic activities to their rehabilitation
program, it can increase aerobic capacity.4,9
Chetlin et al8 evaluated the effect of therapeutic exercises, (strength, power, endurance)
and functional activities such as sitting, walking and stair climbing on functional limitations in
people with type 1a and type 2 CMT. Functional training focuses on what people do on a daily
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basis so they can perform ADLs more easily and without injury. Exercises are targeted to
improve core muscles of the abdomen and lower back. The researchers concluded that
resistance training improves strength and ADLs in people with type 1a and type 2 CMT. They
recommend that optimal resistance training intensity and duration for these individuals should
be further investigated.8,9
The physical properties of water have been used therapeutically for years to aid in
healing and improve function in people with various conditions. The properties of water are
buoyancy, viscosity, hydrostatic pressure, and temperature. Each of these properties offer
different benefits for several diagnoses. For people with CMT, the important properties to
utilize are viscosity and hydrostatic pressure. As stated earlier, resistance exercises can
improve function in people with CMT, and resistance exercises can be performed in the water
without the use of weights. The resistance and buoyancy of water allow a person to strengthen
muscle groups without increasing stress on the joints. People with CMT have decreased
proprioception and the hydrostatic pressure may help to improve joint position awareness by
producing forces perpendicular to the body‟s surface. The potential benefits of aquatic therapy
for people with CMT are improvements in postural alignment, trunk control, balance, spatial
awareness, muscle strength, endurance, and decreased pain.10,11
Although no research was found specifically in people with CMT, the effects of aquatic
therapy has been evaluated in infants and toddlers with hemiplegia, hemiparesis, specific
delays in development and spina bifida.12
The researchers evaluated how aquatic therapy can
improve balance, gait, motor function, postural control, transfers, stair climbing, and running.
After 36 weeks of aquatic therapy (30 minute sessions) and/or home base therapy (PT and/or
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OT), the group that had both therapies had better outcomes in functional mobility. The control
group (home based therapy only) initially had higher scores at baseline but after the study
researchers found the group had a decrease in functional mobility.12
Although CMT is a common neurological disorder, there is little research on the
effectiveness of rehabilitation which includes a combination of land and aquatic therapy. The
purpose of this case report was to document functional outcomes following a program
consisting of both land and aquatic therapy on a child with type 1a CMT. Outcomes will be
based on improving functional mobility, improve sitting balance and sitting tolerance.
Methods
Case Description
The participant selected for this retrospective case study was a 53 month-old boy
diagnosed with CMT syndrome and seizure disorder. His seizures began at 4 months of age
and he was diagnosed with infantile spasms. He was not diagnosed with CMT until 36 months
of age. He had daily breakthrough seizures and was given Diastat (Valium, 5mg) when his
seizure activity lasted longer than 5 minutes. Medications taken on a daily basis included
Keppra (500mg) two times a day, Vitamin B6 (100mg) two times a day, Zonagran (150mg)
two times a day, and one Clonidine (.2mg) at night. He used oxygen therapy at 2-6L/min for
respiratory distress, Tylenol for pain or fever, and Benadryl 1-.1% for topical use for bug bites
and/or itching when necessary (PRN). Vitamin B6 was used to decrease his seizure activity
and Clonidine was used for maintenance of blood pressure. Keppra and Zonagran are both
anticonvulsant medications recommended for children under 16 years of age.
His past medical history was unremarkable expect for CMT, seizures and a
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hospitalization in 2009 for respiratory syncytial virus (RSV). In 2008, he was admitted for
evaluations which included a PET scan, SPECT, LTM with video and 3T MRI. The medical
doctors at the Children‟s Hospital in Boston were trying to rule out other possible diagnoses
such as atypical Retts, Prader Willi/angelmon and Fragile X syndromes. During his EEG
monitoring they captured 13 „spasms‟ and 7 tonic seizures. A PET scan implicated right
temporal activity and an interictal SPECT showed low perfusions in the right temporal lobe but
no specific focus was located. 3T MRI was performed to look for dysphasia with special
interest in the right hemisphere. He had genetic testing done which confirmed his diagnosis of
CMT.
Along with physical therapy he received occupational therapy, speech therapy and
special educational services. He was unable to verbally communicate, but given low-tech
assistive technologies with maximal assistance he used the Big Mac Switch or rocker switches
with recorded comments or phrases. This assistive device was used primarily in group
activities in the classroom so all students could participate and during speech therapy. When
not in these settings his means of communication were facial expressions, body movements,
eye gaze, vocalizations and some sign language. He was given a Rossetti Infant - Toddler
Language Scale and scored at 18 months for expressive language and 21 months for receptive
language. An Early Learning Accomplishment Profile was given at 41 months of age and he
scored up to 8 months in his developmental skills. Human subject‟s approval was obtained
from The Sage College‟s Institutional Review Board.
Examination
The current physical therapy evaluation was completed when the student was 41
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months of age. He was 34 lbs and 41” tall, which is slightly above average for both height and
weight.13
His blood pressure was 80/68, and his heart rate was 84 bpm. The student was graded
with a GRAD Level IIII on the Movement Opportunities via Education (MOVE) assessment.
His range of motion (ROM) for both upper and lower extremities was within normal limits to
hypermobile. He presented with decreased muscle tone giving his extremities a ‟floppy‟
appearance. His left side was slightly more affected which was more noticeable during
standing and a left foot drop was noted during gait. He presented with decreased postural
stability when in an upright position and he was unable to maintain balance longer than 10
minutes seated in a child's chair. He had difficulty activating his muscles in a coordinated
manner in order to provide stability to his joints while weight bearing or weight shifting.
He was able to rise to sitting from supine by rolling to his side and pushing up into a
seated position independently. He required minimal to moderate assistance to return to supine
or prone. In sitting without support, he was able to cross midline to reach and touch toys with
either hand (R>L) with minimal weight shifts without losing his balance. He could sit in a
variety of positions while on the floor including long sitting, tailor sitting and “W” sitting for
short periods of time independently. He was able maintain a sitting position up to 5 minutes on
the floor with his legs crossed with direct supervision. He relied more on protective reactions
when he lost his balance due to delays in his righting and balance reactions.
Given moderate to maximal assistance he was able to rise to a standing position from
the floor. He was unable to transfer from the floor to a chair without given maximal assistance.
In a standard child chair he was able to stand with minimal assistance given to his upper trunk.
Even, with maximal support at his pelvis, he was unable to maintain standing for longer than
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30 seconds due to trunk instability and muscle weakness. With direct supervision and
occasional contact guarding he was able to sit on a standard child sized chair up to 10 minutes
while playing with toys directly in front of him or within arms reach.
He required maximal assistance to assume and maintain other developmental positions
such as quadruped, tall kneeling and standing. He tends to hyperextend his elbows and/or
knees to maintain various developmental positions. In the Rifton Pacer he needed hip/pelvic,
trunk, and forearm prompts to maintain an upright position. During ambulation in order to
maintain a straight path and take reciprocal steps he needed verbal and physical prompts.
Prompting was focused more on his left leg and foot due to left foot drop and would propel
with both feet or dominantly lead with his right foot. Given full prompts in the Rifton Pacer he
was able to move around in his classroom for 30-45 minutes.
Outcome Measures
The child was reevaluated every year by his treating physical therapist, who had over
20 years of experience with this population. Outcome measures utilized were his gait, sit to
stand transfers, sitting balance and tolerance. Due to his significant physical involvement
standardized testing like the Peabody, PEDI, Weefim and SFA would not accurately reflect his
abilities or needs.
Balance is needed for everyday tasks such as sitting, standing, walking, reaching for
objects and performing ADLs. Children with disabilities often have decreased postural
stability making it difficult to be independent, because having postural control plays a big role
in all motor abilities. To assess postural stability three systems need to be evaluated: the
sensory system, the motor system and the biomechanical system. These systems together give
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the child cues or feedback to respond to changes in environment, maintain posture given
various dynamic and static positions.14,15,16
For this participant his sitting balance and tolerance was measured by how well he was
able to maintain the position, assistance needed, time, and if he was relying on the mechanics
of his joints (hyperextending) or actively using his muscles. Postural stability plays an
important role in sitting balance. In order to maintain balance one must have good trunk
control. Sit to stand transfers were measured by the use of assistance needed to perform tasks,
and how long he took to complete the task.
Gait training is an essential component to weight bearing activities. Weight bearing
activities have shown to increase bone density and improve muscle strength.16,17
With the use
of Rifton Pacer it allows a person to be able to weight bear given support from prompts (pelvic,
trunk, forearm etc) The support given can be decreased as the person progresses. In the Rifton
Pacer the child is able to walk without therapist facilitation and support. Without the therapist‟s
support the therapist is able to provide facilitation during gait. In the Pacer the child can
experience walking with a decreased risk of injury.18
In the gait trainer a therapist can observe the participants gait without providing the
support. Gait was measured by observation, which documented distance in feet, the amount of
verbal and manual cues needed (minimal, moderate, maximal) to complete the task and
prompts used on the trainer.
Evaluation
The participant presented with hypotonia, decreased muscle strength, and postural
instability, which limited his ability to perform functional skills independently and be able to
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go through developmental positions without assistance. He required assistance in all ADL‟s,
positioning and transfers. He had difficulty maintaining upright positions in sitting due to his
decreased postural stability, and strength. One position the participant used to prefer to sit in
the “W” position which is common for children with decreased muscle tone to do due to added
stability.19
When he lost his balance in sitting he relied on protective extension reactions since he
was delayed in his righting and balance reactions. During sit to stand transfers from a standard
chair he could actively pull to stand with minimal assistance given to his upper trunk.
Assistance was needed due to decreased strength throughout his trunk and extremities and to
be able to perform the task safely. This assistance allowed the participant to perform skills and
improve his function as less assistance is needed.
When in standing he hyperextended his knees as he relied on joint mechanics to gain
stability due to decreased strength. When in a Rifton Pacer, he required prompts because he
had difficulty taking reciprocal steps and tended to move both feet forward at the same time.
During gait he hyperextended both knees and had a left foot drop due to increased weakness in
his extremities. He also demonstrated increased subtalar motion in his left ankle joint making it
more difficult to maintain stability. His left sided weakness is not only due to his diagnosis of
CMT but during his seizures his right hemisphere has shown to be more affected which will
impair his left side.
Diagnosis and Prognosis
According to The Guide to Physical Therapist Practice, his primary preferred practice
pattern was 5 C: Impaired Motor Function and Sensory Integrity Associated with
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Nonprogressive Disorders of the Central Nervous System - Congenital Origin or Acquired in
Infancy or Childhood. He also fell into a secondary preferred practice pattern in the
musculoskeletal pattern 4 C: Impaired Muscle Performance.20
Prognosis for this child was good because he has been accomplishing his goals,
especially in his functional mobility skills, up to this point. His progress in other therapies and
positive effects to his medications also improved his prognosis. He also lived with his family
who were very supportive and provided him with optimal care. However, there were some
limitations to progress including his seizures. When he experienced grand-mal seizures, it set
him back and each time, he needed to relearn skills due to brain damage that can occur. He
experienced petite-mal seizures daily which were less severe and mainly caused mild to severe
exhaustion. The exhaustion after a seizure episode would at times last all day and he would
sleep all day to recover. This would effect him receiving any type of therapy because he would
not respond and therapy could not be performed. When this occurred a few days in a row there
were small to moderate loses to his functional ability.
Plan of care/Intervention
The participant received physical therapy 5 times a week for 30 minute sessions.
Therapy was in a school setting and he received therapy throughout the school year, along with
a summer program that focused on maintenance. Physical therapy interventions were
performed by the same therapist or physical therapist assistant; both whom have over 20 years
of experience working with this population. Two of these sessions occurred in the pool for
aquatic therapy. Land therapy sessions occurred three times a week for 30 minutes and focused
on gait training, transfers, standing balance, postural stability in sitting on a mat and on a
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standard child‟s chair. His goals were to improve postural stability, sit to stand with hand held
assist and sit in a standard child sized chair for 20 minutes with direct supervision with 75%
success out of 10 trials.
Since he presented at GRAD level four, his accomplished skills should improve bone
health and functioning of internal organs which decrease the risk of joint deformities and
pain.17,21
Working at this level can help individuals who are non-ambulatory improve their
abilities to sit, stand and walk. These skills help benefit the body by increasing bone strength
and improve functioning in the body‟s systems. In the cardiovascular system it can potentially
improve circulation when being upright and increase oxygen in the blood during activity.
When weight bearing, the bones become stronger from the pressure which helps to prevent
osteoporosis and other deformities.22,23
To accomplish these skills most of the time verbal and tactile prompts were used to
help assist the person. Prompts ranged from verbal, tactile, and the use of equipment.
Whenever prompts were used, the goal was to fade the prompt as soon as possible to aid in
progression.24
As stated earlier he was hypotonic and during sitting he would “W” sit to increase his
stability. This position can cause laxity in the knee and hip joints making them unstable.19,25
While in the school setting he was not allowed to sit this way. The following equipment was
used to allow him to participate in the classroom and during therapy sessions; a medium Rifton
Pacer (k521) with full prompts, a standard Rifton chair with foot plates and tray, a
Tumbleforms Corner Chair with tray and Tumbleforms Floor sitter.
Treatment sessions included challenging his sitting balance on a mat by having him
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reach for toys with minimal to moderate weight shifts with direct supervision. The goal of
these tasks was to improve his balance by strengthening his postural muscles and increasing
his sitting tolerance. Sit to stand transfers were performed from various heights with
moderate/maximal assistance given at shoulders and/or pelvis. Sit to stand transfers would
occur 5 to 10 times at each varied heights to work on function and strengthen his lower
extremity muscles.
The use of making each task repetitive was to promote motor learning; which improves
motor skills and helps make them automatic. Motor skills become stronger, more coordinated
and fluid with repetition.26
To increase the difficulty of these tasks less assistance was used. He
started from needing maximal assistance at the upper trunk and/or pelvis to minimal to
moderate assistance at upper trunk.
Static standing balance activities were performed with moderate/maximal assistance at
trunk and/or hips to maintain an upright position without lose of balance. Weight bearing
during static standing can make bones and joints stronger, as well as strengthen muscles.17,27,29
Gait training was performed in a Rifton Pacer with hip/pelvic, trunk and forearm prompts to
provide postural support. Ambulation would occur once during one session due to having 30
minute sessions. With verbal and tactile cues, he was able to ambulate reciprocally in a straight
path 50‟ two times. Verbal cues included cues such as “step forward” and “keep going!”.
Manual cues were mainly used to help facilitate his left foot forward due to his increased
weakness in his left lower extremity and foot drop.
As he progressed, he started to respond to tapping on the top of his left foot to step
forward. He stopped ambulating after 20‟ gaze around the room or hallway. He was progressed
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by ambulating further with decreased verbal and tactile prompting. Walking in this manner
worked on strengthening his bones and muscles, improving his postural control, balance,
coordination and increasing his endurance. Being in the gait trainer with prompts also provided
the participant to weight bear independently and potentially improve his body awareness and
alignment.
In the pool, he required use of a life jacket to help support him. During aquatic therapy,
the participant required less assistance due to the properties of water. Sessions in the pool
focused on the same goals as stated earlier with emphasis on weight bearing through his lower
extremities. To work on postural stability, his balance was challenged in standing and sitting in
various positions using different types of equipment, including a floating mat, a water noodle
and 1 pound ankle weights.
The floating mat was used to challenge his sitting balance and to work on sitting on an
unstable surface to make the task more challenging. When the body is on an unstable surface
different muscles are activated to provide support and stability.29,30,21
Given minimal/moderate
support at his pelvis and trunk, he was able to maintain sitting on a floating mat in the water up
to five minutes.
The noodle was also used for sitting and for use as upper extremity support during
standing. He needed minimal to contact assistance to hold the noodle for support in standing
activities. When using the noodle he was able to stand longer (3 minutes) than just having the
support from the therapist‟s hands.
Another standing activity was done by the side of the pool where he played with toys
within an arm reach away given minimal to contact guard at his pelvis. In this activity he was
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actively reaching for toys for 1-2 minutes. To help increase proprioception in his lower
extremities and foot placement he donned a 1 pound ankle weights during standing activities.
The added weight to his ankles helped to keep his lower extremities in the water. Without
weights his legs would float to the surface and made it harder for him to maintain standing in
the pool without added assistance.
Gait was also an activity performed in the pool. The participant was able to ambulate
3-5 steps with moderate to maximal support at his trunk. This also required the participant to
don a 1 pound ankle weights on each ankle. This activity was a new task added during his third
quarter.
To increase strength in his trunk he was placed on a therapist‟s lap (in sitting) and his
balance was challenged by forcing weight shifts to occur. Moderate support was given at his
pelvis to help him maintain his balance. During weight shifts different muscles are activated
and contracted to help him maintain his balance in these positions. He was able to tolerate
various weight shifts in different directions up to 1 minute.
Outcomes
In 2010, the participant made major gains in his gait, sit to stand transfers, sitting
balance and tolerance. One of his biggest accomplishments was his ability to ambulate using a
Rifton Pacer over 50‟ with decreased prompting. During the first quarter, he needed full
prompts at the ankle, pelvis/hip, trunk and forearm along with maximal verbal and manual
cues. Initially, maximal manual techniques were used at his left ankle and above the knee to
bring the leg forward. Towards the end of the third quarter he was able to ambulate 20‟ without
ankle prompts and moderate verbal and manual cueing while ambulating in the gait trainer. He
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required minimal manual and verbal cues to start ambulation; once he gained momentum there
was decreased need for assistance. After ambulating 20-30‟ feet he would stop and needed
minimal assistance to start again. He also started to stay in the trainer in the classroom and was
able to move and step reciprocally 30% of the time throughout the room up to 45 minutes.
Another gain he made was actively standing up from a child‟s chair given moderate to
minimal support at his shoulders. Prior to this gain he required maximal assistance at his trunk
and/or pelvis to stand. He initially did not attempt to actively stand himself and was not able to
stay in this static position any longer than a few seconds. Now, he starts to reach for an adult
when he was transferring sit to stand. This is important because it shows that he wanted to
stand and participate. When beginning the program less than a year ago he was not sociable
and would not make eye contact. Now he enjoys being around other peers and makes eye
contact and smiles.
He also showed improvement in his sitting balance and tolerance. In a chair he can now
sit for 10 minutes with contact guard and/or direct supervision. This was a big accomplishment
because he would constantly move by rocking back and forth and move his upper and lower
extremities to help maintain his balance. This was also shown when sitting on a mat, which he
can now sit for five minutes without moving with contact guarding and/or direct supervision.
Before he could only maintain sitting positions no longer than a few minutes then would start
“flopping” around and lose his balance. Another sign of improved sitting balance was he was
able to play and cross midline with minimal weight shifts and no loss of balance.
Discussion
Pediatric physical therapy focuses on treating children with special needs by enhancing
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capabilities and encouraging independence with high quality care. The purpose of this case
report was to document functional outcomes from the combination of land and aquatic therapy
on a child with type 1a CMT. From the outcomes there were positive findings possible due to
the benefits of combining these two therapies. The participant made incredible gains in his
functional abilities and strength.
He made significant gains in his gait, sit to stand transfers, and sitting balance which we
feel is a result of combining land and aquatic therapy. Land therapy focused on sit to stand
transfers, sitting balance, static standing and gait. Research has shown that the use of
therapeutic exercises and functional activities in children with CMT type 1a helps to improve
strength and performance in ADL‟s.8 Aquatic therapy focused on postural stability, sitting
balance, standing and gait. Research has shown improvements in functional mobility when
aquatic therapy is used to improve balance, gait, motor function, postural control, and
transfers.12
Some of this success could be attributed to the use of motor learning principles. Motor
learning is defined as “a set of internal processes associated with practice or experience leading
to relatively permanent changes in the capability for skilled behavior.” 32 p74
The internal
changes occur throughout the cortex and as motor skills are acquired structural, neuroplastic
changes occur in the neuronal elements (synapses, dendrites etc).33,34
When one first learns a new task many areas in the brain are activated. By repeating
desired tasks, the skills improve and only small distant areas in the brain are stimulated. In
order for a task to become more automatic there needs to be repetition which allows for these
stronger synaptic changes.35
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Motor learning also occurs in stages which include cognitive, associated and
autonomous stages. These stages allow therapists to follow frameworks of the learning process
and provide appropriate training techniques for each stage.32
The cognitive stage is when an individual is first learning the new skill and develops an
overall understanding of the task. It is important in this phase to provide guidance by
physically assisting the learner in the movement which provides tactile and kinesthetic inputs,
which improves intrinsic and extrinsic feedback. In our case, we gave the participant maximal
assistance which helped him to „feel‟ the movement. As assistance decreased, he had to
perform more of the activity which provides internal feedback by producing the movement to
complete the task. Providing external feedback verbal cues allowed the learner to know the
overall outcome and quality of movement as it is being produced. During gait training verbal
cues were used to encourage him to ambulate further and reciprocally.32
The associative stage is when the skill becomes refined from the learner. Feedback is
still given at this stage but as the learner acquires the skill feedback becomes faded,
bandwidthed and delayed. It is important in this stage that the learner uses self-monitoring,
analysis and self-correction when performing tasks. In this case, as participant began to
improve his skills less assistance was given, both manually and verbally. Another important
aspect of this stage is to challenge the learner in different environments. This was practiced in
many skills such as gait training was performed in tile hallways, carpet, outside on the
sidewalk and in aquatic therapy. Performing skills in different environments improves
adaptability and enhances learning.32
The final stage of learning is the autonomous stage; this is the goal of therapy. Given
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enough practice the skill is still being refined with minimal to no errors. At this stage there
should be occasional feedback given to the learner and the learner should be ready for home
and community with the use of varying environments.32,34
The participant in this study did not
reach this stage given the time frame but his goals continue to come more independent in all
functional activities.
Land therapy allows therapeutic interventions to be performed repeatedly with the
ability to adjust the interventions by the level of the learning stage and skill. An important
aspect of motor learning is generalizability.32
It is the ability to apply the learned skilled to
similar tasks. In this case we had the participant transfer to sit to stand from various heights
which eventually reduced the time and effort he needed to perform these transfers. We also
practiced ambulating on tile in the classroom and hallways, carpet in the main lobby and
outside on the sidewalk to facilitate generalizability to real life settings.
Aquatic therapy allowed the participant to perform functional tasks in a new
environment and enhanced therapy by utilizing the therapeutic properties of water. When
performing activities in the water the participant used different muscles to complete the task.
The resistance and buoyancy of water help strengthen muscle groups and improve function.
Hydrostatic pressure helps to improve joint position awareness which can help proprioception
and internal feedback.10,11
This change in environment had added therapeutic benefits and
allowed the participant to adapt their skills and enhance procedural learning.
There were limitations that occurred during this case study which should be considered
when assessing outcomes. Standardized testing allows for consistency which makes them
reliable, valid and can be generalizable and replicable. It provides a documented assessment of
21
an individual„s skill. This participant did not have standardized testing performed due to his
significant physical involvement; and results would not have accurately reflected his abilities
or needs. One standardized test that may have been able to assess his functional capabilities
and performance is the Pediatric Evaluation of Disability Inventory (PEDI). There are three
domains: functional skills, caregiver assistance and modifications. Within these domains there
is self-care, mobility and social function which is assessed by if the participant is capable,
unable and how much assistance is needed to complete each task.35
His functional skills were
assessed using the MOVE assessment which has little to no research to show its reliability and
validity.
Other limitations that could have interfered with outcomes were if when experienced
seizures before or during treatment. When seizures occurred prior to therapy it could
completely exhaust the participant where he would sleep all day and receive no therapy. If a
seizure occurred during a session everything was done to keep the participant safe and to
document of seizure activity; which reduced session time. When this occurred a few days in a
row there were small to moderate loses to his functional ability. There were also times when
the participant was absent from school and would not receive any therapy.
Limitations to the retrospective case study include threats to both internal and external
validity. According to Domholdt36
internal validity is the extent to which results of a study
demonstrate that a casual relationship exists between the independent and dependent variables.
With threats like history, where events that are unrelated treatment occur during the study and
cannot be controlled in retrospective non-experimental study. Events that occurred in this case
were his seizures, absences, school events, receiving other therapies and classroom activities.
22
These events may have had a plausible change in the outcomes in this participant. Maturation
is another threat. The participant was a child and naturally goes through changes which can
improve their performance regardless of treatment.36
As stated earlier the instrumentation and testing was also a threat to the study. No
standardized tests were used to assess the participant. Observation was used to assess skills,
and research is still needed to assess its reliability.
This study was based on one participant with co-morbidities so it is difficult to
generalize the treatment and condition outcomes. The setting in which this participant received
therapy may not be clinically applicable in others; such as having a heated, indoor pool within
the facility. This was also a school setting where the participant received multiple therapies and
activities daily.
Although there were threats to the internal and external validity, this case study still
offers implications for clinicians working with a child with type 1a CMT. Future research on
the benefits of combined land and aquatic therapies for a child or an adult with type 1a CMT
should include a larger subject population with different age ranges, sex, participants from
different geographical areas and a stronger research design like a randomized controlled trial.
There also needs to be a thorough evaluation using appropriate tools to assess a participant‟s
functional skills and baseline measures. By using proper outcome assessments it is easier to
assess the patient‟s progress and plan of care. Many pathologies and disabilities may benefit
from a combination of land and aquatic therapy, and even progress faster than just using land
therapy alone and use of a combination therapy needs to be evaluated in these populations.
23
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