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.

3

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

4

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

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

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

14

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

15

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

16

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

17

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

18

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

19

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

20

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

References:

1. Howcroft DWJ, Kumar S, Makwana N. Charcot Marie Tooth Disease. Orthop

Trauma.2009;23(4):274-277.

2. Norreel JC, Vinay L, Fontes M, Clarac F. Close relationship between motor

impairments and loss of functional motoneurons in a Charcot–Marie–Tooth type 1A

model. Neurosci.2003;116(3):695-703.

3. Parsons TC, Brannagan TH, Quan D, Talavera F, Busis NA, Benbadis

SR.Charcot-Marie-Tooth and other hereditary motor and sensory neuropathies.

http://emedicine.medscape.com/article/1173104-overview-parsons. Updated

November 5, 2009. Accessed November 20th

2010.

4. Banchs I, Casasnovas C, Alberti A, et el. Diagnosis of Charcot-Marie-Tooth disease. J

Biomed Biotechnol.2009;8:doi: 10.1155/2009/985415

5. Pareyson D, Marchesi C. Diagnosis, natural history, and management of

Charcot-Marie-Tooth disease. The Lancet Neurology.2009;8(7):654-667.

6. National Institute of Neurological Disorders and Stroke. Charcot-Marie-Tooth

Disorder.

http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.

htm. Accessed September 2, 2011.

7. Martel J, Mierau D, Donat J. Charcot-Marie-Tooth disease. J Manipulative Physiol

Ther.1995;18(3):168-171

8. Chetlin RD, Gutmann L, Tarnopolsky M, Ullrich IH, Yeater RA. Resistance training

24

effectiveness in patients with Charcot-Marie-Tooth disease: recommendations for

exercise prescription.Arch Phys Med Rehabil.2004;85(8):1217-1223

9. Ouvrier RA, McLeod JG,Pollard JD. Peripheral neuropathies in the young child.

Cambridge, MA: Cambridge University Press;1999.

10. Hall J, Swinkels A, Briddon J, McCabe CS.Does Aquatic Exercise Relieve Pain in

Adults With Neurologic or Musculoskeletal Disease? A Systematic Review and

Meta-Analysis of Randomized Controlled Trials Arch Phys Med Rehabil.

2008;89(5):873-883

11. Hillier S, McIntyre A, Plummer L. Aquatic physical therapy for children with

developmental coordination disorder: a pilot randomized controlled trial. Phys Occup

Ther Pediatr.2010; 30(2):111-124

12. McManus BM, Kotelchuck M.The effect of aquatic therapy on functional mobility of

infants and toddlers in early intervention. Pediatr Phys Ther.2007;19(4):275-282

13. Long TM, Toscano K. Handbook of Pediatric Physical Therapy.2nd

edition.

Phiadelphia,PA: Lippincott Williams & Wilkins;2002.

14. Westcott SL. Lowes LP, Richardson PK. Evaluation of postural stability in children:

current theories and assessment tools. Phys Ther.1997;77(6):629-645

15. Britton E, Harris N, Turton A. An exploratory randomized controlled trial of assisted

practice for improving sit to stand in stroke patients in the hospital setting. Clin

Rehabil.2008;22(5):458-468

16. Mak MK, Chan CW. Cued task-specific training is better than exercise in improving

sit-to-stand in patients with Parkinson's disease: a randomized controlled trial. Mov

25

Disord.2008;23(4):501-509.

17. Chad KE, Bailey DA, McKay HA, Zello GA, Snyder RE. The effect of a

weight-bearing physical activity program on bone mineral content and estimated

volumetric density in children with spastic cerebral palsy. J Pediatr.1999; 135(1):

115-117.

18. Rifton Equipment. http://www.rifton.com/products/mobility/pacergaittrainers/.

Accessed October 12, 2010.

19. Advance for Physical Therapy & Rehab Medicine. Greco D.

http://physical-therapy.advanceweb.com/Article/does-your-child-w-sit.aspx

Accessed October 12, 2010.

20. American Physical Therapy Association. Guide to Physical Therapist Practice. 2nd

ed.

Alexandria, VA: American Physical Therapy Association; 2003

21. Eng JJ, Levins SM, Townson AF, Mah-Jones D, Bremner J, Huston G. Use of

prolonged standing for individuals with spinal cord injuries. Phys

Ther.2001;81(8):1392-1399.

22. Alekna V, Tamulaitiene M, Sinevicius T, Juocevicius. Effect of weight-bearing

activities on bone mineral density in spinal cord injured patients during the period of

the first two years. Spinal Cord.2008;46(11):727-732.

23. Butler PB. A preliminary report on the effectiveness of trunk targeting in achieving

independent sitting balance in children with cerebral palsy. Clin

Rehabil.1998;12(4):281-293.

24. MOVE International. http://www.move-international.org. Accessed November 1,

26

2010.

25. Pediatric Services. McNamara J. http://www.pediatricservices.com/parents/pc-22.htm.

Accessed October 30, 2010.

26. Stiller C, Marcoux BC, Olson RE. The effect of conductive education, intensive

therapy, and special education services on motor skills in children with cerebral palsy.

Phys Occup Ther Pediatr.2003;23(3):31-50.

27. Orlowska K. Changes in bone mechanical strength in response to physical therapy. Pol

Arch Med.2010;120(9):368-73. Review.

28. Luiz Alfredo L, Ferreira B , Pereira WM et el,.Analysis of electromyographic activity

of ankle muscles on stable and unstable surfaces with eyes open and closed . JBMT. In

Press, Corrected Proof, November 2010

29. Madureira MM, Takayama L, Gallinaro AL, Caparbo VF, Costa RA, Pereira RM.

Balance training program is highly effective in improving functional status and

reducing the risk of falls in elderly women with osteoporosis: a randomized controlled

trial. Osteoporos Int.2007;18(4):419-425.

30. Haynes W. Core stability and the unstable platform device. JBMT.2004;8:88-103.

31. O‟Sullivan SB, Schmitz TJ. Physical Rehabilitation. 5th edition. Philadelphia, PA:

F.A. Davis Company;2007.

32. Hikosaka O, Nakamura K, Sakai K, Nakahara H. Central mechanisms of motor skill

learning.Curr. Opin. Neurobiol.2002;12(2):217-222

33. Shepherd RB. Exercise and trainging to optimize functional motor performance in

stroke: driving neural reorganization? Neural Plast.2002;8(1-2):121-129.

27

34. Ekman LL. Neuroscience: Fundamentals for Rehabilitation. 3rd

edition. St.

Louis,MO;2007.

35. Clinical Assessment. Pediatric Evaluation of Disability Inventory PEDI.

http://www.pearsonassessments.com/HAIWEB/Cultures/en-us/Productdetail.htm?Pid

=076-1617-647&Mode=summary. Accessed April 5, 2011.

36. Domholdt E. Rehabilitation Research: Principles and Applications. 3rd

edition. St.

Louis, MO;2005.

28