Abstract
Background and Purpose Familial dysautonomia (FD) is a rare genetic autosomal recessive disease that impairs vital functions and causes neural and motor deficiency. These motor deficits often are characterized by static and dynamic instability and an ataxic gait. As a result, people with FD are at risk for significant physical impairment and falls and pose unique challenges for delivering rehabilitation exercise. Consequently, there is a need for challenging ways to safely and feasibly deliver active exercise rehabilitation to these individuals.
Case Description This case report describes 3 people with FD (ages 11, 12, and 22 years) with gait and stability problems who attended rehabilitation exercises augmented by the use of an iPhone application specifically developed for the program.
Outcomes The Berg Balance Scale and the Four Square Step Test were conducted prior to training, after training, and after 2 months of follow-up without training. Two patients showed improvements on both measures at the posttest, which were maintained throughout follow-up testing.
Discussion Although greater experience is needed to more fully evaluate the efficiency of the iPhone application used in this program for people with FD, the results of these initial cases are encouraging. Systematically and prospectively tracking motor abilities and other functional outcomes during rehabilitation of individuals with FD who use the suggested application in balance training is recommended in order to provide greater evidence in this area.
Familial dysautonomia (FD) is a rare genetic autosomal recessive disorder. It is chronic, progressive, and life threatening, as it involves impairment of vital systems such as the cardiovascular, respiratory, renal, and gastrointestinal systems.1 There are approximately 360 known cases of FD in the world. The vast majority of them (99%) are due to a mutation in the IKBKAP gene.2 This mutation results in a reduction of normal IKA protein, which may influence neural cell migration. The disorder is expressed in fewer and smaller peripheral and autonomic neural cells.1–5
Two typical phenomena of autonomic dysfunction in people with FD are orthostatic blood pressure changes and “crisis attack,” appearing in reaction to anxiety, disease, or an unknown trigger. This autonomic reaction is characterized by rapid changes in heart rhythm and blood pressure, nausea, and a general feeling of malaise. Red blotches may appear on the skin. The attack requires medication and monitoring and may lead to complications.1–4
In addition to autonomic disorders, FD is characterized by impaired skeletal, muscular, and sensory-motor neural systems, resulting in ataxia, stumbles, and falls.1,6,7 The impairment found in the skeletal system includes osteopenia and osteoporosis, as well as scoliosis, kyphosis, and kyphoscoliosis.6,8 Muscle tone is low (hypotonia), with asymmetry of muscle length (eg, short pectoralis muscles with long rhomboid muscles).6
Results of studies about ataxic gait in FD revealed white matter loss in the middle of the cerebellar peduncle1,7,9 and a faulty stretch reflex mechanism.7 Cells related to the peripheral sensory system, such as proprioception, vibration, pain, and temperature, are few, small, and fragile. Their number decreases with age; thus, sensory information is deficient and lessening.1–3 In addition, the vestibular system is known to be bilaterally impaired.10 A positive Romberg test in people with FD indicates proprioceptive or vestibular impairment,11 which becomes more pronounced with age.1,7,10 Deep tendon reflexes are weak or absent in people with FD, and there is increased instability with aging, as expressed by a wider ataxic walk.1,7
Vision is often affected, as a typical lack of tears, combined with a faulty sensation of touch and pain, endangers the cornea.1–3 The optic nerve is often deficient and deteriorates with age.1–3
People with FD have difficulty with participation in life activities at school and in the workplace. As they are at increased risk of osteopenia and osteoporosis, there is a greater danger that stumbling and falling will result in fractures, requiring additional medical care and reducing their quality of life.8 Thus, therapists as well as researchers are seeking methods to help individuals with FD strengthen their bones and prevent falling. These methods must consider the unique needs and limitations of the person with FD, such as the “crisis attack” and orthostatic blood pressure. Changes of position, such as sitting to standing, must be done gradually to avoid the pervasive problem of postural hypotension.1 Stress and anxiety may trigger a crisis attack and should be kept to a minimum during training and tests.1–4
Postural control and balance require a complex neuromuscular process, demanding vestibular, somatosensory, and visual perception of information in reference to the environment, to keep the body upright and the line of gravity within the boundaries of the base of support.12–15 This is a dynamic, adaptive process that includes both proactive (self-initiated) and reactive (to unexpected, external perturbations) balance control actions. Each system contributes according to demand and the availability of the information. When one system is deficient, the other systems may compensate.14
Balance training is strongly encouraged in people with neurological disorders and has demonstrated reduced falling incidence across a variety of impairment conditions.16–18 Training should be specific and dynamic and thus should be performed in multiple situations with a gradual decrease of support and an upgrade of challenge.14,19 However, most balance training interventions are performed under proactive conditions, whereas falls typically occur due to inadequate reactive responses to external stimuli.19 Moreover, due to their impairment, people with FD primarily rely on visual information for postural control, as indicated by their positive Romberg reaction, even while standing on firm, stable surfaces. Training on soft, unstable surfaces will reduce the information from the proprioceptive origin, so that optic and vestibular receptors will be under demand to collect information that is necessary for the optic reflex function, the stabilization of head on trunk, and sustaining an upright trunk position, as well as for communication in descending pathways associated with postural control.14,20 Therefore, narrowing the base of support and challenging the limits of stability on soft, unstable surfaces continues to allow full use of the visual system. Training should challenge the proprioceptive and vestibular systems to contribute to the reactive control component12 while the visual system is occupied with an additional task.
During the last decade, smartphones have become a very common device, utilized primarily by young people throughout the world. Audiovisual applications are commonly programmed for smartphones with the purpose of functional improvement across a variety of tasks. One of the industry's leading labels is the iPhone (Apple Inc, Cupertino, California), which was selected for developing a balance application for the current program, called iPhone Balance Application (IBA).
The IBA was designed to attract the user's attention, combining a bright colorful game with the balance training. During practice, utilizing visual and audio cues, the user maintains his or her eyes on the game stimuli and away from the surroundings (yet is provided with information regarding verticality). Therefore, by suppressing the surrounding visual input, the individual focuses on improving the vestibular as well as the proprioceptive functions while practicing reactive balance control. Further details about the IBA are provided in the “Intervention” section.
The purpose of this case report is to describe the feasibility of an innovative IBA assisted balance training program for improving postural control in young people with FD.
Patient History and Review of Systems
The patients were 3 individuals diagnosed with FD during their first years of life (2 females and 1 male, aged 11, 12, and 22 years, respectively). All 3 patients exhibited substantial skeletal, muscular, neural, and neuromuscular impairments. All patients were familiar with physical therapy, having undergone treatments once a week for 7 years (patient 1), twice a week for 7 years (patient 2), and 3 times a week for 21 years (patient 3). Written informed consent was obtained from the patients and their parents. A detailed description of their demographic and clinical characteristics is presented in Table 1.
Demographic and Clinical Characteristics of Patients
Clinical Impression
As depicted in Table 1, the patients exhibited positive Romberg test signs, their medical records reported osteoporosis, and each of them reported the incidence of 3 or 4 falls with injury in the previous year, as well as 2 or 3 stumbles without injury every day.
Examination
Balance Tests
The outcome measures for the program were selected to test static and dynamic balance while minimizing any stress that might trigger a crisis attack and cause anxiety, thus allowing continued cooperation following the balance training period, as people with FD tend to avoid situations in which they feel anxiety.
The Berg Balance Scale (BBS)21 was found suitable for measuring both static and dynamic balance, as it gradually increases challenges while testing the boundaries of postural control, with less rapid position changes, so that dizziness, anxiety, and a crisis attack were less likely to occur in people with FD. In addition, the Four Square Step Test (FSST)22 was selected as a dynamic measure, as it does not require changes in postural positions, so as to avoid orthostatic blood pressure changes.
The BBS comprises 14 tasks requiring static and dynamic standing balance control and is scored with a graded scale ranging from 1 to 4 for each task. The total scoring range is between 14 and 56 points, with a score of less than 45 being associated with a risk for falls in elderly people.21 The BBS has been found valid in people with neurological impairments,13 and more specifically in those with vestibular disorders.23
The FSST measures the ability to step over four 2.5-cm-high sticks (forward, sideways, backward, and sideways), first clockwise and then back again, while facing forward.22 The test was found to be valid in people with vestibular lesions.23
No specific cutoff values were established for young adults in these tests, and no data were established for adults with vestibular disorders in the BBS.24 However, according to published data,23 12 seconds in the FSST is the cutoff value for an increased risk for falling in adults with vestibular disorders.
At initial testing, patient 1 scored 50 points on the BBS and performed the FSST in 13.3 seconds, patient 2 scored 50 points on the BBS and performed the FSST in 12.8 seconds, and patient 3 scored 48 points on the BBS and performed the FSST in 20.3 seconds.
Muscle Strength and Range-of-Motion (ROM) Measures
Although not the focus of this program, the major impairments in strength and ROM in the hip, knee, and ankle joints were examined during the pretest, as they exhibit the key joints in ankle, hip and stepping strategies for controlling balance.20 Muscle strength was measured by manual muscle testing (MMT).25 Range of motion was measured using the Baseline Digital Absolute + Axis goniometer no. 12-1027 (Sammons Preston, Bolingbrook, Illinois). The Thomas test26 was used to assess hip capsular restriction and flexor muscle tightness.
All participants exhibited ataxia, kyphoscoliosis, and reduced values of hip, knee, and ankle MMT. Individual outcomes are reported in Table 1.
Clinical Impression
Based on the preliminary examination, all 3 individuals were at a high risk for falling during their daily activities. Although all patients participated in physical therapy treatments for a long period of time, their previous training had focused on strength and flexibility rather than on balance training. Therefore, they were appropriate candidates for using the IBA-assisted balance intervention. We hypothesized that they would demonstrate an increased BBS score and decreased FSST time after 2 months of IBA training.
Intervention
Based on exercise recommendations,14,16–18 the program was planned to last 2 months, 3 times per week. However, due to individual constraints, the total number of sessions and their frequency varied across patients, thus providing a range of exercise exposures. Patient 1 practiced with the IBA protocol once a week, patient 2 practiced with the protocol twice a week, and patient 3 practiced with the protocol times a week. The total number of sessions per patient is shown in Table 2.
Description of the IBA
The IBA was designed to train balance by interfering with the anticipatory processing of visual information. Instead of focusing their attention on visual environmental cues for keeping their vertical position, the patients focused their vision on the game and had to control their vertical position using mainly the proprioceptive and vestibular systems in addition to peripheral vision. During practice of the IBA game, the patients were instructed to flex their shoulders at a 90-degree angle so that the device was held stable, vertical, and parallel to the trunk position (Fig. 1). Data from the phone gyroscope were used, and the game was programmed to provide audiovisual rewards when the phone was kept at a vertical position. The application was programmed to play a game and to stop it when the vertical position of the phone was lost, or when sway increased. The game consisted of a line of candies moved in accordance with the phone position, kept by the flexed arms (ie, the body inclination), thus providing feedback about body verticality. The purpose was to feed an illustrated face at the top of the screen with as many candies as possible. A winning signal sound was heard as a candy was aimed and entered into the mouth of this character without losing the vertical position. During the game, distractions (consisting of images of broccoli and food cans) horizontally crossed the screen at a random sequence. Points scored indicated completing as many sequences as possible while maintaining the vertical position of the phone (and the trunk).
An example of one screenshot of the game, and a patient performing the intervention.
An example of one screenshot of the game and a participant performing the intervention are presented in Figure 1. An example of part of the IBA session is shown in the video clip below.
A video clip of part of the iPhone Balance Application (IBA) balance training session.
Training Protocol
A typical training session lasted 45 minutes, including about 25 to 30 minutes of strengthening and stretching exercises. Target muscles for stretching and strengthening, as in the routine program for people with FD, were: hip, knee, and ankle flexors and extensors, as well as the erector spinae and abdominal muscles, as these are the prime movers involved in balance strategies.20
In the modified training schedule utilized in this program (Fig. 2), the strengthening and stretching times were reduced to 10 minutes only, and 15 minutes of IBA-based balance training and 5 minutes of non-IBA balance training were included. Balance sessions with the IBA commenced on firm and stable surfaces and with a wide base of support, while keeping the center of mass relatively still, and advanced to soft and unstable surfaces (foam) with a narrow base as the person showed fewer body sways. As training advanced, the person was requested to close his or her eyes, hold the devise as before, and try aiming the candy to the mouth by keeping both his or her body and the device positioned vertically. Because the application was programmed to make a winning noise “yes” for success, the person could evaluate his or her performance.
A flowchart describing the components of a training session and the time scheduled for each component is presented in Figure 2.
Time schedule and components of a training session. IBA=iPhone Balance Application.
While performing the IBA-assisted balance training, short active breaks lasting about 1 minute were provided every 2 minutes to reduce stiffness and relax the whole body, with emphasis on the neck, shoulders, arms, lower extremities, and eyes. Monitoring for changes in autonomic system symptoms is of high importance among people with FD, as they can indicate a crisis attack.1–4 Special attention was given to signs of discomfort and changes in well-being, such as changes of facial expression indicating stress, or a change in skin coloring (ie, pallor or reddening). In cases of such facial expression or color change, training was discontinued. An additional precaution during training was the gradual change of body positions to avoid postural hypotension. Training was discontinued on request if discomfort was reported. No crisis attacks or other adverse effects were encountered during the training. A therapist stood beside the patient throughout training, at arms' reach. All patients continued receiving routine treatments as indicated by their medical and physical situation throughout the program. Balance measurements were completed prior to the intervention, immediately following it, and 2 months after its cessation.
Outcome
Feasibility
All intended sessions were performed without any complaints during the IBA practice sessions. All 3 patients quickly understood the game instructions and adhered to the protocol. Patient 1, whose health was unstable at the time of the intervention period, missed several sessions, which she later made up (8 changes in the schedule out of 9 sessions due to FD “crisis attacks” and complications throughout the period of the study). Patient 2 had 6 changes out of 18 sessions, and patient 3 had 5 changes out of 27 sessions. A summary of the patients' responses to the treatment is presented in Table 2. The patients appeared to enjoy using the IBA and deliberately provided feedback and ideas so as to increase their satisfaction during the practice with the device. No falls or other safety incidences occurred during any of the training sessions.
Patients' Responses to Treatment
Effects
Scores on the BBS during the 3 testing sessions are shown in Figure 3. Patient 3, who trained 3 times per week, improved by 4 points from pretest to posttest, and he sustained his score after 2 months without balance training. Patient 2, who trained twice per week, improved by 3 points from pretest to posttest and lost 1 point after 2 months without balance training. Patient 1, who trained only once per week, showed no change in all test sessions.
Berg Balance Scale scores during 3 testing sessions: preintervention test, postintervention test (after 2 months of intervention period), and follow-up test (conducted 2 months after cessation of the intervention).
Scores of the FSST during the 3 testing sessions are shown in Figure 4. Patient 3 reduced the time to complete the FSST by 3.1 seconds from pretest to posttest and reduced an additional 1.6 seconds after 2 months without training. Patient 2 reduced the time to complete the FSST by 2.5 seconds from pretest to posttest and increased the time to complete the test by 0.1 second after 3 months without training. Patient 1's time to complete the test worsened (ie, increased) by 1.6 seconds from pretest to posttest, and the time decreased by 2 seconds after 2 months without training.
Four Square Step Test scores during 3 testing sessions: preintervention test, postintervention test (after 2 months of intervention period), and follow-up test (conducted 2 months after cessation of the intervention).
Discussion
The purpose of this case series was to explore the feasibility and effects of a hybrid intervention incorporating an innovative device utilizing an iPhone application, along with therapeutic exercise, in 3 patients with FD. The outcomes of this pilot project are relevant for the FD population, who can be identified as particularly balance challenged, as well as for other populations who have an elevated falling incidence and balance disorders. Previous research has indicated that balance training could be effective in reducing the number of falls in patients with neurological conditions27 when performed specifically in accordance with their impairments.14
Based on the findings of this pilot project, it may be suggested that those individuals who trained 2 or 3 times per week for 9 consecutive weeks with the IBA implemented in a traditional training protocol improved in both measures that represent postural stability: the BBS and the FSST.
Improved results on the BBS have been linked with a lower tendency to fall.28 Improvement of 1 point was translated by research into a 6% to 8% smaller tendency to fall.28 According to this logic, patient 3, who trained 3 times a week and improved by 4 points after training, potentially had a 24% to 32% smaller tendency to fall after training with the IBA. By the same logic, patient 2, who trained twice a week and improved by 3 points, potentially had an 18% to 24% smaller tendency to fall after training with the IBA. These improvements were retained almost completely after 2 months without training. The results for these patients are encouraging and suggest the potential beneficial uses of the IBA for training both static and dynamic balance control in individuals with FD.
Patient 1, who trained only once a week, exhibited no change in the BBS in all 3 tests. Based on our findings, it may be suggested that the minimal IBA training frequency needed for improvement is at least twice a week.
In relation to the FSST, patient 3, who trained 3 times per week and began his performance with a score higher than 20 seconds, improved after training and continued to improve after 2 months without training, but stayed above 15 seconds (15.6 seconds). In accordance with previous research,22,23 this result still places him at risk of the tendency to fall; however, the results, taken together with his improved scores on the BBS, suggest a decreased tendency. It should be noted that the improvement of patient 3, who was 10 to 11 years older than patients 1 and 2, may have additional significance, as the neurological impairment increases with age.1–3
Patient 2 trained twice a week and improved on the FSST from 12.8 seconds before training to 10.3 seconds after training, which, according to Whitney et al,23 lowered her risk for falling. This improvement was maintained after 2 months without training. Patient 1, who trained only once a week, had a lower score after training and achieved her best score after the 2 months without training. In this case, relative to the results of both the BBS and the FSST, it is possible that training with the IBA had no effect on her performance and that her scores were affected by other parameters that were not related to the intervention. It should be noted that her health was unstable at the time of the intervention period (frequent crisis attacks) and she missed several sessions, which she later made up. Her unstable health situation may have contributed to the results.
It should be noted that the IBA was implemented within a traditional training protocol for people with FD, which, in addition to training postural control, included muscle strengthening and stretching. Therefore, it may be suggested that some of the improvements found in the case series could be related to additional improvements in the strength or ROM of specific joints. However, our patients were already familiar with strength and flexibility training, and for longer periods of time. Therefore, it is less likely that a reduction in this training modality would improve function. Also, it has been noted that, in several clinical populations, the relationship between balance and measures of ankle strength30 and ROM31 was found to be small. Therefore, it appears less likely that the changes in balance performance observed in our patients were related to an improvement in their strength or ROM.
In addition, this is a case report of patients who varied in age and impairment level. This variability was inevitable due to the small number of individuals with FD. Adding a baseline period to the time series might have added to the rigor of this project. We expected the patients' adherence to vary across phases of the time series and, therefore, removed this phase. However, this factor should be included in any further study of the IBA in individuals with FD.
In this case report on 3 individuals with FD, we changed a traditional program focusing on strength and flexibility training to one focusing on balance training with a specialized IBA device. The feasibility of safely training with this device was established, and positive effects were presented in the patients who trained twice a week or more. Due to the small number of patients, these findings should be interpreted with caution, and additional studies with a larger number of participants and additional functional measures, such as frequency of falling or stumbling, are needed.
Footnotes
Mrs Gefen and Dr Hutzler provided concept/idea/project design and project management. All authors provided writing. Mrs Gefen provided data collection, patients, facilities/equipment, and consultation (including review of manuscript before submission). Mrs Gefen and Dr Dunsky provided data analysis.
The program was approved by the Wingate Academic College's Ethical Review Board.
- Received October 27, 2013.
- Accepted November 25, 2014.
- © 2015 American Physical Therapy Association
References
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