Motor Disabilities in the Rett Syndrome and Physical Therapy Strategies Susan B Hanks, BS
A chart review of 23 girls diagnosed with the Rett syndrome (RS), seen at Oregon Health Sciences University-Child Development and Rehabilitation Center was conducted to identify specific motor problems. Hypotonia, loss of transitional movements, ataxia, motor apraxia, spasticity, kyphoscoliosis, and foot deformities proved to be characteristics of this syndrome. Clinical experience of the author and other therapists involved in the treatment of girls with RS suggests that physical therapy is useful in the management of these patients to maintain or increase motor skills and control deformities. Therapy techniques the author has found useful are presented and responses unique to RS patients are described. Key words: Rett syndrome, physical therapy, ataxia, spasticity. Hanks SB. Motor disabilities in the Rett syndrome and physical therapy strategies. Brain Dev 1990;12:157-61
The Rett syndrome (RS) is a disorder so far found only in females. The girls appear normal for the first 6 -12 months of life; then their development plateaus in all areas followed by a rapid, progressive loss of cognitive, language, and motor skills. Deterioration follows a generally set sequence with four distinct stages [1]. There is a period of inappropriate social interaction, notably avoidance of eye contact which is later replaced by intense eye contact. There is weight loss and a deceleration of head growth. Small hands and feet accompany vasomotor instability in all extremities. A most prominent symptom is hand wringing or washing and hand mouthing behavior. Seizures are common. Early hypotonia progresses to later spasticity. Ataxia and apraxia [1-3] are typical. Kyphoscoliosis and foot deformities are seen in later stages. Motor disabilities and gait abnormalities are characteristic of the disease, yet are quite variable in their manifestation and severity [1-5]. Oral motor dysfunction with feeding problems has been seen. MATERIALS AND METHODS
A retrospective chart review was done at Oregon Health
From the Oregon Health Sciences University, Child Development and Rehabilitation Center, Portland, Oregon. Correspondence address: Mrs. Susan B Hanks, Oregon Health Sciences University, Child Development and Rehabilitation Center, PO Box 574, Portland, Oregon 97207, USA.
Sciences University-Child Development and Rehabilitation Center and data retrieved on 23 girls 2-21 years of age with RS who met diagnostic criteria [1]. Since most of the older girls were diagnosed years after they had first been seen and before the diagnosis of RS and the concept of staging was developed, no attempt was made to separate the data by staglis of the disease. RESULTS
Our series found no correlation between age of onset and severity of motor disability. There is a well defined progression of motor symptoms in RS. All girls were reported to be hypotonic in the first year of life. Ataxia or motor apraxia developed in 73% of our cases. There was a gradual increase in muscle tone for most girls with eventual development of spasticity and increased deep tendon reflexes. While spasticity in RS usually seems to increase with age, three of our girls (ages fifteen, nineteen, and twenty years) do not exhibit spasticity. The other four who are not spastic are between the ages of 2 and 6 years. The youngest girl was 2 years old and the oldest was 15 years when spasticity was first documented. Spasticity is first seen in the gastrocnemius-soleus muscles, and is evidenced by toe walking in ambulatory girls. Clonus is usually present. Sixty five percent of our population learned to walk independently and 47% maintain it. Four girls who had lost the ability to walk regained it with treatment. Our sample suggests that independent ambulation will be attained before age 3 years. Two girls have lost all transi-
tional skills but continue independent walking when placed on their feet. The stereotypic hand movements characteristic of RS were observed in all cases. Seventy four percent had some degree of kyphosis or scoliosis and all of these exhibited spasticity and/or ataxia. DISCUSSION Hypotonia interferes with postural stability. To achieve stability, compensatory increased tone develops resulting in abnormal movement patterns. As muscle tone increases there is a period of normal tone, but normal movement patterns do not develop or return, because of the habitual compensatory motor behaviors and developing motor apraxia. As spasticity and apraxia increase and hand stereotypies persist, the girls lose those functional gross motor skills they had achieved. Transitional skills (rolling, getting to sit, pulling to stand, etc.) seem especially vulnerable. Voluntary spinal rigidity occurs as a compensatory mechanism for loss of truncal stability. Static skills (sitting when placed, and standing) are retained longer. Righting reactions and equilibrium responses are retained, but may be slowed and their range decreased so they become ineffective. Immature and abnormal reflexes and responses (such as the tonic labyrinthine response & asymmetrical tone neck reflex) do not reemerge. Additionally, the girls also exhibit spatial disorientation. Their perception of an upright posture produces a forward, backward or lateral leaning. Loss of ambulation in 2 girls was due to inability to shift weight forward to initiate steps. This was accompanied by very poor tolerance for the prone position. For those girls orientated too far forward, less interference with walking is seen, but they may be kyphotic and intolerant of being supine. The typical gait pattern seen in this syndrome reflects effects from spasticity, ataxia, apraxia, and compensatory spinal rigidity as well as spatial disorientation. Toe walking appears gradually as their gait slows, the base of support widens, and weight shift is achieved by lateral rocking while trunk rotation disappears. Asymmetries develop, one leg being stiffer or weaker; often rocking is seen with one foot forward, the other behind (always the same one in front) and stepping may consist of bringing the foot behind only up to the other foot, never in front of it. The stress of ambulation or therapy to elicit transition skills often increases hand wringing, hyperventilation, and teeth grinding. Loss of transitional skills also seems concomitant with a disruption in kinesthetic and proprioceptive awareness. When asked to sit down from standing, the girls seem to lack the concept of spatial awareness and often exhibit agitation suggesting that their perception of distance down is impaired.
158 Brain & Deveiopment, Vol 12, Nol, 1990
The initiation of movement is particularly difficult for these girls. Often the harder they try to move, the more the movement seems blocked. Development of scoliosis and kyphosis is common [2,6] and closely related to the general motor problems. The inability to accurately perceive an upright posture, as well as the compensatory spinal rigidity, appear to contribute to these deformities. As motor capabilities decrease, agitation and resistance on being moved increases perhaps as a protective mechanism. The stereotypic hand movements are not self stimulatory behavior, but involuntary movement which increases with intent. At times they successfully reach but failing that, they will try to activate a toy with their head, elbow or foot. Not only manipulative skills, but gross motor skills are disrupted by hand wringing. Protective extension is delayed or blocked, and upper extremity weight bearing is unreliable. Program In developing a physical therapy program for a girl with RS we must not only evaluate her present state, but anticipate future problems from what we know about the usual course of the disease. A program must be individually tailored and based on a careful analysis of what factors are interfering with functional movement or causing deformities. Treatment should be more frequent during periods of loss of transitional skills. Generally, treatment goals will include the following: 1. Develop or maintain ambulation, 2. Develop or maintain transitional skills, 3. Prevent or reduce deformities, 4. Alleviate discomfort & irritability, 5. Improve independence. Movement analysis and functional evaluation are done within a neurodevelopmental framework. Early treatment with the young child generally follows a developmental sequence. With older girls while this normal sequence must be considered, working on isolated skills may be more successful because of the extreme difficulty in getting generalization of rotational patterns. Tone reduction techniques used with cerebral palsy and stroke patients reduce spasticity and improve range, but efforts to facilitate normal movement while maintaining reduced tone are usually unsuccessful. The girls strongly resist being moved, but will still require physical assistance to perform movements. This assistance must be slow, firm, and graded to diminish the child's anxiety and reduce her resistance. Close physical contact provides security, as well as guidance. Most important is giving verbal direction and encouragement and waiting for a response. Girls with RS have a very long response latency. The time between a direction given and a girl's response may
be 10-60 seconds or more. Often a girl will be able to give only a partial response. A therapist may feel a slight movement in the requested direction or a softening of resistance. Verbal encouragement and reinforcement at this point will often help the child to complete the movement, or reduce her resistance to the therapist's manipulation. While it is true that the expressive language of girls with RS is severely impaired, and their inability to initiate voluntary movement blocks or delays their response to verbal directions, there have been many incidents in therapy where it has been clear that the girls do understand directions and attempt to comply. In treatment planning it is important to remember the stereotypic behaviors are not self stimulatory or voluntary movements hence behavior modification technique, especially those including aversive consequences, do not alter these behaviors and may actually increase them by increasing the girls' anxiety. Techniques that reinforce behaviors incompatible with the stereotypic movements have better success. The girls seem to fmd it relaxing and quieting to have the hand wringing behavior stopped, either by being placed prone, or by holding one hand. Use of elbow splints prevents the hand-to-mouth behavior and increases purposeful use of the hands [7]. The following are examples of physical therapy techniques that have worked successfully for various problems. in RS. This is not intended as a complete therapy program, but only examples of what may be done. Ambulation Independent ambulation is a realistic therapy goal for most girls, especially in the early years. Many of the girls who are not independent can walk with the aid of another person. This should be encouraged as it allows the girl the physiological and psychological benefits of walking as well as making her care easier. It is also important for prevention of deformities. Hip flexion contractu res and a dramatic increase in scoliosis [2] are seen once a girl is confined to a wheelchair. Ambulation aids can be useful if the hand gestures are disallowed. One child successfully uses a walker if she has elbow splints on to interrupt her hand-to-mouth behavior. Patient 8 in our group showed a gradual decline in her abilities from age 2 1/2 to 3 1/2 years, at which point she could stand independently and walk when pulled along, but could not shift her weight forward to initiate walking [Fig 1]. The problem was not due to spasticity, but to an increase in spinal and lower limb extension and a disturbance of her orientation in space. She could not tolerate the prone position. Treatment included working prone on a large therapy ball until agitation decreased (Fig 2) and then standing leaning forward on the ball and weight shifting (Fig 3) to attempt to alter her perception of being upright. Many activities requiring spinal flexion, rotation and hip and knee flexion, were also done both
passively and actively. Within two weeks this child was able to initiate independent walking again, and with continued therapy, has maintained this skill for three years. A similar approach was successful with an older' girl not included in this review. For gait asymmetry, weight shifting in a stride position (putting child's non-preferred leg first) resulted in more equal stride length. Transition Transitions are as important as ambulation. Movement components that are missing or are overactive must be identified and modified. Interfering factors seen are strong extensor activity in legs and back, spinal rigidity,
Fig 1 Disturbance in her spatial orientation causes this child to lean backward when attempting to walk.
Fig 2 Working supported in prone improves the child's tolerance of a more forward orientation.
Fig 3 Leaning forward on the ball to practice weight shifting overcorrects the child's walking posture.
Hanks: Rett syndrome physical therapy
159
lack of upper extremity weight bearing, and a disturbance in spatial orientation. There is often an inability to grade movement. One approach to altering these movement components is eliciting righting and equilibrium responses from the child while she is sitting on a therapy ball (Fig 4). The therapist can control the speed, direction, duration and excursion of the movement to encourage active responses into flexion, and rotation, carefully grading the activity to the girls' tolerance. This develops range of motion, strength, and tolerance for these postures. Direct practice of functional transition activities utilizing verbal direction and physical assistance from the therapist is also useful. Assuming a quadruped position may be achieved even with a girl who has a strong aversion to prone if she is reassured that the therapist will provide protection for her face in case she cannot maintain weight bearing on her hands because of the hand wringing. Leaning forward to stand up can be very difficult for a girl who fears falling forward. Assisting the girl by pushing her forward, reinforces her pushing backward. Seating the child on a bench then tipping the bench back, to elicit equilibrium reactions to get hip flexion, then assisting the child to stay flexed as the bench returns to an upright position, helps the child tolerate that forward orientation made so inaccessible by the disruption of her spatial awareness (Fig 5). Once tolerance is increased, the
Fig 4 Utilizing equilibrium responses on the ball to increase trunk mobility.
Fig 5 Using a tipping bench to develop a tolerance for leaning forward.
160 Brain & Development, Vol 12, No 1, 1990
child will then actively shift forward to come to standing. If the child is unable to perform transitions independently, caretakers should lead her through the movements with verbal and physical assistance. This will help her maintain mobility and reduce the amount of lifting the caretaker must do. For girls who have retained their transitions, opportunity to practice these should be provided as part of their daily routine. Deformities The major deformities in RS are of the spine and feet, although any joint may show contractures as spasticity worsens. Initially, scoliosis or kyphosis are tone induced and can be corrected through tone reduction activities, gentle lengthening of the concave side, and activation of the convex side through elicitation of equilibrium reactions. It may also be necessary to alter the girl's perception of her position in space. To achieve an upright position, over-correction is attempted by placing the girl in side lying with the apex of the curve down. Proper seating, especially in a wheelchair or stroller, is essential in reducing the risk of scoliosis. A solid seat and solid back must be used to achieve proper pelvic and spinal alignment. In the advanced stages where a ftxed scoliosis is present, treatment is directed at maintaining as much range as possible and providing supportive seating. Toe-walking may progress to a strong characteristic pattern of plantar flexion at the ankle, inversion of the fore foot, and curling of the toes. On weight bearing the foot is usually pronated. A polypropylene ankle-foot orthosis, hinged to allow dorsiflexion, corrects the foot position and can prevent or delay the development of a fixed plantar flexion contracture. Attempts to correct pronation with below-ankle orthoses seem to destablize the child's gait and have not proved successful. Active weight shifting in controlled standing with heels down, gentle manual stretching, and night splints have all been useful but must be started before actual contractures are present for best results. Discomfort & irritability Occasionally girls with RS have periods of extreme irritability and anxiety often seen during the rapid deterioration. They may also experience discomfort due to increased tone, voluntary tightness or actual muscle spasm_ Hydrotherapy in a whirlpool, or in a warm swimming pool, and massage seem to bring them some relief. Music during therapy often soothes their agitation. Music therapy is very valuable to help a girl maintain contact with people and her environment, especially during irritable times. Independence Fostering independence is any parent's, or therapist's goal. Clinical experience suggests that loss of some skills may be
slowed, and that some skills can be regained, or even learned for the first time. Four girls who lost independent walking regained this ability with therapy. One girl has learned to stand up from a high sofa after 3 years of not being able to do this without help. For maximum independence, movements practiced in therapy should be incorporated in the activities at home. Therapy activities should have a clear functional goal. One area of independence sometimes neglected until it becomes a crisis is that of independent chewing and swallowing. Problems are common and the speech therapist should evaluate these skills periodically. To maximize these skills proper seating in an upright position is mandatory. Treatment to improve mobility & posture and reduce tone also improves feeding.
CONCLUSION As with many other progressive diseases, physical therapy cannot affect the degenerative process that occurs in RS, but therapy can directly alter many of the symptoms by maintaining function, slowing deformities, reducing irritability and providing comfort, to improve the quality of life for the girls and their caregivers.
ACKNOWLEDGMENTS I thank Cindy Carol for her assistance with the chart review and Dr. S. Budden for her encouragement and support. REFERENCES 1. Hagberg B. Witt Engerstrom I. Rett syndrome: A suggested staging system for describing impairment profile with increasing age toward adolescence. Am J Med Genet 1986;24: 47-59. 2. Naidu S, Murphy M, Moser HW. Rett syndrome-Natural history in 70 cases. Am J Med Genet 1986;24:61-72. 3. Philippart M. Clinical recognition of Rett syndrome. Am J Med Genet 1986;24:111-8. 4. Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome. Report of 35 cases. Ann Neuro11983;14:471-9. 5. Kerr AM, Stephenson lBP. A study of the natural history of Rett syndrome in 23 girls. Am J Med Genet 1986;24:77-83. 6. Adkins WN Jr. Rett syndrome at Central Wisconsin Center. AmJ Med Genet 1986;24:85-97. 7. Aron M. The use and effectiveness of elbow splints in Rett syndrome. Brain Dev (Tokyo). This issue.
Hanks: Rett syndrome physical therapy 161
A chart review of 23 girls diagnosed with the Rett syndrome (RS), seen at Oregon Health Sciences University-Child Development and Rehabilitation Center was conducted to identify specific motor problems. Hypotonia, loss of transitional movements, ataxia, motor apraxia, spasticity, kyphoscoliosis, and foot deformities proved to be characteristics of this syndrome. Clinical experience of the author and other therapists involved in the treatment of girls with RS suggests that physical therapy is useful in the management of these patients to maintain or increase motor skills and control deformities. Therapy techniques the author has found useful are presented and responses unique to RS patients are described. Key words: Rett syndrome, physical therapy, ataxia, spasticity. Hanks SB. Motor disabilities in the Rett syndrome and physical therapy strategies. Brain Dev 1990;12:157-61
The Rett syndrome (RS) is a disorder so far found only in females. The girls appear normal for the first 6 -12 months of life; then their development plateaus in all areas followed by a rapid, progressive loss of cognitive, language, and motor skills. Deterioration follows a generally set sequence with four distinct stages [1]. There is a period of inappropriate social interaction, notably avoidance of eye contact which is later replaced by intense eye contact. There is weight loss and a deceleration of head growth. Small hands and feet accompany vasomotor instability in all extremities. A most prominent symptom is hand wringing or washing and hand mouthing behavior. Seizures are common. Early hypotonia progresses to later spasticity. Ataxia and apraxia [1-3] are typical. Kyphoscoliosis and foot deformities are seen in later stages. Motor disabilities and gait abnormalities are characteristic of the disease, yet are quite variable in their manifestation and severity [1-5]. Oral motor dysfunction with feeding problems has been seen. MATERIALS AND METHODS
A retrospective chart review was done at Oregon Health
From the Oregon Health Sciences University, Child Development and Rehabilitation Center, Portland, Oregon. Correspondence address: Mrs. Susan B Hanks, Oregon Health Sciences University, Child Development and Rehabilitation Center, PO Box 574, Portland, Oregon 97207, USA.
Sciences University-Child Development and Rehabilitation Center and data retrieved on 23 girls 2-21 years of age with RS who met diagnostic criteria [1]. Since most of the older girls were diagnosed years after they had first been seen and before the diagnosis of RS and the concept of staging was developed, no attempt was made to separate the data by staglis of the disease. RESULTS
Our series found no correlation between age of onset and severity of motor disability. There is a well defined progression of motor symptoms in RS. All girls were reported to be hypotonic in the first year of life. Ataxia or motor apraxia developed in 73% of our cases. There was a gradual increase in muscle tone for most girls with eventual development of spasticity and increased deep tendon reflexes. While spasticity in RS usually seems to increase with age, three of our girls (ages fifteen, nineteen, and twenty years) do not exhibit spasticity. The other four who are not spastic are between the ages of 2 and 6 years. The youngest girl was 2 years old and the oldest was 15 years when spasticity was first documented. Spasticity is first seen in the gastrocnemius-soleus muscles, and is evidenced by toe walking in ambulatory girls. Clonus is usually present. Sixty five percent of our population learned to walk independently and 47% maintain it. Four girls who had lost the ability to walk regained it with treatment. Our sample suggests that independent ambulation will be attained before age 3 years. Two girls have lost all transi-
tional skills but continue independent walking when placed on their feet. The stereotypic hand movements characteristic of RS were observed in all cases. Seventy four percent had some degree of kyphosis or scoliosis and all of these exhibited spasticity and/or ataxia. DISCUSSION Hypotonia interferes with postural stability. To achieve stability, compensatory increased tone develops resulting in abnormal movement patterns. As muscle tone increases there is a period of normal tone, but normal movement patterns do not develop or return, because of the habitual compensatory motor behaviors and developing motor apraxia. As spasticity and apraxia increase and hand stereotypies persist, the girls lose those functional gross motor skills they had achieved. Transitional skills (rolling, getting to sit, pulling to stand, etc.) seem especially vulnerable. Voluntary spinal rigidity occurs as a compensatory mechanism for loss of truncal stability. Static skills (sitting when placed, and standing) are retained longer. Righting reactions and equilibrium responses are retained, but may be slowed and their range decreased so they become ineffective. Immature and abnormal reflexes and responses (such as the tonic labyrinthine response & asymmetrical tone neck reflex) do not reemerge. Additionally, the girls also exhibit spatial disorientation. Their perception of an upright posture produces a forward, backward or lateral leaning. Loss of ambulation in 2 girls was due to inability to shift weight forward to initiate steps. This was accompanied by very poor tolerance for the prone position. For those girls orientated too far forward, less interference with walking is seen, but they may be kyphotic and intolerant of being supine. The typical gait pattern seen in this syndrome reflects effects from spasticity, ataxia, apraxia, and compensatory spinal rigidity as well as spatial disorientation. Toe walking appears gradually as their gait slows, the base of support widens, and weight shift is achieved by lateral rocking while trunk rotation disappears. Asymmetries develop, one leg being stiffer or weaker; often rocking is seen with one foot forward, the other behind (always the same one in front) and stepping may consist of bringing the foot behind only up to the other foot, never in front of it. The stress of ambulation or therapy to elicit transition skills often increases hand wringing, hyperventilation, and teeth grinding. Loss of transitional skills also seems concomitant with a disruption in kinesthetic and proprioceptive awareness. When asked to sit down from standing, the girls seem to lack the concept of spatial awareness and often exhibit agitation suggesting that their perception of distance down is impaired.
158 Brain & Deveiopment, Vol 12, Nol, 1990
The initiation of movement is particularly difficult for these girls. Often the harder they try to move, the more the movement seems blocked. Development of scoliosis and kyphosis is common [2,6] and closely related to the general motor problems. The inability to accurately perceive an upright posture, as well as the compensatory spinal rigidity, appear to contribute to these deformities. As motor capabilities decrease, agitation and resistance on being moved increases perhaps as a protective mechanism. The stereotypic hand movements are not self stimulatory behavior, but involuntary movement which increases with intent. At times they successfully reach but failing that, they will try to activate a toy with their head, elbow or foot. Not only manipulative skills, but gross motor skills are disrupted by hand wringing. Protective extension is delayed or blocked, and upper extremity weight bearing is unreliable. Program In developing a physical therapy program for a girl with RS we must not only evaluate her present state, but anticipate future problems from what we know about the usual course of the disease. A program must be individually tailored and based on a careful analysis of what factors are interfering with functional movement or causing deformities. Treatment should be more frequent during periods of loss of transitional skills. Generally, treatment goals will include the following: 1. Develop or maintain ambulation, 2. Develop or maintain transitional skills, 3. Prevent or reduce deformities, 4. Alleviate discomfort & irritability, 5. Improve independence. Movement analysis and functional evaluation are done within a neurodevelopmental framework. Early treatment with the young child generally follows a developmental sequence. With older girls while this normal sequence must be considered, working on isolated skills may be more successful because of the extreme difficulty in getting generalization of rotational patterns. Tone reduction techniques used with cerebral palsy and stroke patients reduce spasticity and improve range, but efforts to facilitate normal movement while maintaining reduced tone are usually unsuccessful. The girls strongly resist being moved, but will still require physical assistance to perform movements. This assistance must be slow, firm, and graded to diminish the child's anxiety and reduce her resistance. Close physical contact provides security, as well as guidance. Most important is giving verbal direction and encouragement and waiting for a response. Girls with RS have a very long response latency. The time between a direction given and a girl's response may
be 10-60 seconds or more. Often a girl will be able to give only a partial response. A therapist may feel a slight movement in the requested direction or a softening of resistance. Verbal encouragement and reinforcement at this point will often help the child to complete the movement, or reduce her resistance to the therapist's manipulation. While it is true that the expressive language of girls with RS is severely impaired, and their inability to initiate voluntary movement blocks or delays their response to verbal directions, there have been many incidents in therapy where it has been clear that the girls do understand directions and attempt to comply. In treatment planning it is important to remember the stereotypic behaviors are not self stimulatory or voluntary movements hence behavior modification technique, especially those including aversive consequences, do not alter these behaviors and may actually increase them by increasing the girls' anxiety. Techniques that reinforce behaviors incompatible with the stereotypic movements have better success. The girls seem to fmd it relaxing and quieting to have the hand wringing behavior stopped, either by being placed prone, or by holding one hand. Use of elbow splints prevents the hand-to-mouth behavior and increases purposeful use of the hands [7]. The following are examples of physical therapy techniques that have worked successfully for various problems. in RS. This is not intended as a complete therapy program, but only examples of what may be done. Ambulation Independent ambulation is a realistic therapy goal for most girls, especially in the early years. Many of the girls who are not independent can walk with the aid of another person. This should be encouraged as it allows the girl the physiological and psychological benefits of walking as well as making her care easier. It is also important for prevention of deformities. Hip flexion contractu res and a dramatic increase in scoliosis [2] are seen once a girl is confined to a wheelchair. Ambulation aids can be useful if the hand gestures are disallowed. One child successfully uses a walker if she has elbow splints on to interrupt her hand-to-mouth behavior. Patient 8 in our group showed a gradual decline in her abilities from age 2 1/2 to 3 1/2 years, at which point she could stand independently and walk when pulled along, but could not shift her weight forward to initiate walking [Fig 1]. The problem was not due to spasticity, but to an increase in spinal and lower limb extension and a disturbance of her orientation in space. She could not tolerate the prone position. Treatment included working prone on a large therapy ball until agitation decreased (Fig 2) and then standing leaning forward on the ball and weight shifting (Fig 3) to attempt to alter her perception of being upright. Many activities requiring spinal flexion, rotation and hip and knee flexion, were also done both
passively and actively. Within two weeks this child was able to initiate independent walking again, and with continued therapy, has maintained this skill for three years. A similar approach was successful with an older' girl not included in this review. For gait asymmetry, weight shifting in a stride position (putting child's non-preferred leg first) resulted in more equal stride length. Transition Transitions are as important as ambulation. Movement components that are missing or are overactive must be identified and modified. Interfering factors seen are strong extensor activity in legs and back, spinal rigidity,
Fig 1 Disturbance in her spatial orientation causes this child to lean backward when attempting to walk.
Fig 2 Working supported in prone improves the child's tolerance of a more forward orientation.
Fig 3 Leaning forward on the ball to practice weight shifting overcorrects the child's walking posture.
Hanks: Rett syndrome physical therapy
159
lack of upper extremity weight bearing, and a disturbance in spatial orientation. There is often an inability to grade movement. One approach to altering these movement components is eliciting righting and equilibrium responses from the child while she is sitting on a therapy ball (Fig 4). The therapist can control the speed, direction, duration and excursion of the movement to encourage active responses into flexion, and rotation, carefully grading the activity to the girls' tolerance. This develops range of motion, strength, and tolerance for these postures. Direct practice of functional transition activities utilizing verbal direction and physical assistance from the therapist is also useful. Assuming a quadruped position may be achieved even with a girl who has a strong aversion to prone if she is reassured that the therapist will provide protection for her face in case she cannot maintain weight bearing on her hands because of the hand wringing. Leaning forward to stand up can be very difficult for a girl who fears falling forward. Assisting the girl by pushing her forward, reinforces her pushing backward. Seating the child on a bench then tipping the bench back, to elicit equilibrium reactions to get hip flexion, then assisting the child to stay flexed as the bench returns to an upright position, helps the child tolerate that forward orientation made so inaccessible by the disruption of her spatial awareness (Fig 5). Once tolerance is increased, the
Fig 4 Utilizing equilibrium responses on the ball to increase trunk mobility.
Fig 5 Using a tipping bench to develop a tolerance for leaning forward.
160 Brain & Development, Vol 12, No 1, 1990
child will then actively shift forward to come to standing. If the child is unable to perform transitions independently, caretakers should lead her through the movements with verbal and physical assistance. This will help her maintain mobility and reduce the amount of lifting the caretaker must do. For girls who have retained their transitions, opportunity to practice these should be provided as part of their daily routine. Deformities The major deformities in RS are of the spine and feet, although any joint may show contractures as spasticity worsens. Initially, scoliosis or kyphosis are tone induced and can be corrected through tone reduction activities, gentle lengthening of the concave side, and activation of the convex side through elicitation of equilibrium reactions. It may also be necessary to alter the girl's perception of her position in space. To achieve an upright position, over-correction is attempted by placing the girl in side lying with the apex of the curve down. Proper seating, especially in a wheelchair or stroller, is essential in reducing the risk of scoliosis. A solid seat and solid back must be used to achieve proper pelvic and spinal alignment. In the advanced stages where a ftxed scoliosis is present, treatment is directed at maintaining as much range as possible and providing supportive seating. Toe-walking may progress to a strong characteristic pattern of plantar flexion at the ankle, inversion of the fore foot, and curling of the toes. On weight bearing the foot is usually pronated. A polypropylene ankle-foot orthosis, hinged to allow dorsiflexion, corrects the foot position and can prevent or delay the development of a fixed plantar flexion contracture. Attempts to correct pronation with below-ankle orthoses seem to destablize the child's gait and have not proved successful. Active weight shifting in controlled standing with heels down, gentle manual stretching, and night splints have all been useful but must be started before actual contractures are present for best results. Discomfort & irritability Occasionally girls with RS have periods of extreme irritability and anxiety often seen during the rapid deterioration. They may also experience discomfort due to increased tone, voluntary tightness or actual muscle spasm_ Hydrotherapy in a whirlpool, or in a warm swimming pool, and massage seem to bring them some relief. Music during therapy often soothes their agitation. Music therapy is very valuable to help a girl maintain contact with people and her environment, especially during irritable times. Independence Fostering independence is any parent's, or therapist's goal. Clinical experience suggests that loss of some skills may be
slowed, and that some skills can be regained, or even learned for the first time. Four girls who lost independent walking regained this ability with therapy. One girl has learned to stand up from a high sofa after 3 years of not being able to do this without help. For maximum independence, movements practiced in therapy should be incorporated in the activities at home. Therapy activities should have a clear functional goal. One area of independence sometimes neglected until it becomes a crisis is that of independent chewing and swallowing. Problems are common and the speech therapist should evaluate these skills periodically. To maximize these skills proper seating in an upright position is mandatory. Treatment to improve mobility & posture and reduce tone also improves feeding.
CONCLUSION As with many other progressive diseases, physical therapy cannot affect the degenerative process that occurs in RS, but therapy can directly alter many of the symptoms by maintaining function, slowing deformities, reducing irritability and providing comfort, to improve the quality of life for the girls and their caregivers.
ACKNOWLEDGMENTS I thank Cindy Carol for her assistance with the chart review and Dr. S. Budden for her encouragement and support. REFERENCES 1. Hagberg B. Witt Engerstrom I. Rett syndrome: A suggested staging system for describing impairment profile with increasing age toward adolescence. Am J Med Genet 1986;24: 47-59. 2. Naidu S, Murphy M, Moser HW. Rett syndrome-Natural history in 70 cases. Am J Med Genet 1986;24:61-72. 3. Philippart M. Clinical recognition of Rett syndrome. Am J Med Genet 1986;24:111-8. 4. Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome. Report of 35 cases. Ann Neuro11983;14:471-9. 5. Kerr AM, Stephenson lBP. A study of the natural history of Rett syndrome in 23 girls. Am J Med Genet 1986;24:77-83. 6. Adkins WN Jr. Rett syndrome at Central Wisconsin Center. AmJ Med Genet 1986;24:85-97. 7. Aron M. The use and effectiveness of elbow splints in Rett syndrome. Brain Dev (Tokyo). This issue.
Hanks: Rett syndrome physical therapy 161
