Therapies and Education in Rett Syndrome
Table of Contents
While no therapy can cure Rett Syndrome, a variety of interventions exists that can improve the quality of life and assuage some of the complications. Therapies can include “mainstream” ones like physical, occupational and speech therapy as well as more “alternative” therapy such as massage, music, craniosacral, chiropractic care and snoezelen among others.
Unlike the explosion seen in biomedical research on RTT the same cannot be said for therapeutic research. Without evidence-based research parents are unfortunately left to decide which therapies to undertake with their children and at what intensity levels.
What therapies are made available to a child with RTT will depend on a myriad of circumstances including availability of therapies within the given community and/or school district, economic means, philosophy of parents and physical and emotional state of the child. Of utmost importance is to take your child’s cues in determining the nature and pace of treatment. Avoiding stressful situations in children with RTT, especially during the regression years, is important.
In the last few years it has become evident that the brain is malleable well into adulthood. This fact has torn down decades-old dogma and has opened up the possibility that with correct treatment the brain can forge new molecular pathways. This is evidenced in the ability of women with RTT who re-learned to walk or regained some hand function with aggressive therapies after years of limited interventions.
Following are some examples of therapies commonly used in RTT and resources that may be of help.
Physical Therapy
The broad goals of physical therapy are the prevention, diagnosis, and treatment of movement dysfunctions and the enhancement of the physical health and functional abilities of a person with a disability. This outcome may be addressed through helping an individual to develop, maintain or improve gross motor skills and/or transitional skills (the ability to move oneself), as well as preventing or reducing deformities and alleviating discomfort, leading to improved independence. Specifically physical therapy can help a girl with RTT who experiences the following changes often associated with the diagnosis: apraxia (inability to initiate and complete a smooth, voluntary movement), decreased coordination, loss of balance, changes in posture and skeletal alignment, decreased range of motion and a decline in independent mobility.,/p>
Specific examples of how a therapist might achieve the above goals include:
- Assessment of the integrity of muscle tissue along with muscle strength and joint range of motion. As RTT progresses, girls typically experience a loss of muscle control and movement. When typical movement does not take place over a long period of time, muscle tissue wastes away (atrophy) and the muscle shortens, making it impossible for joints to open up all the way and move to their full extent. Over time this condition may become permanent and physiological changes occur in the joints, making it impossible to extend them fully. This condition is known as a contracture and can lead to complications such as skin breakdown (sores) or other health problems if internal organs receive pressure from permanently fused joints. Physical therapy can monitor this condition and help preserve full movement at the joints by engaging girls in therapeutic activities and exercises to build muscle strength and keep muscle tissue elongated, reducing the possibility of permanent contractures. As motor control diminishes through loss of muscle mass and neurological changes associated with the progression of RTT, apraxia, or the inability to conduct controlled motor movements, increases.
Balance and coordination are necessary for independent mobility and remaining upright against gravity. This is seen not only in walking but also in sitting and during transitional movement such as changing positions from sitting to lying down and back up to standing. Maintaining one's balance involves coordination of not only muscles and joints but the visual system and the vestibular system as well. Some physical therapists specialize in the area of promoting/preserving balance and coordination and can provide skilled intervention in this area.
Posture and skeletal alignment are necessary for the preservation of mobility, balance and transitional movement necessary to support all activities. Physical therapists are uniquely qualified to assess the integrity and function of muscles of the back and spine necessary to maintain optimal skeletal alignment. As the muscles of the back and spine deteriorate the force that they exert on the spine becomes uneven, as a result, many girls with RTT develop scoliosis, a condition where the spine is pulled out of balance and curves. Physical therapy can help to stop or slow the progression of this condition that often accelerates during puberty when children typically experience more rapid growth in the spine and long bones of the body.
- Bone density often decreases (osteoporosis) as the result of a reduction in weight bearing associated with a decrease in the ability to stand and walk independently. Physical therapy often incorporates weight-bearing exercises necessary to slow the progression of bone loss. As bone density diminishes, bones become brittle, increasing the risk of fractures from simple, everyday activities (stress fractures).
Mobility demonstrated through walking, crawling, creeping, scooting, or using an ambulation device falls within the domain of the physical therapist. Many girls with RTT lose or never develop the ability to walk independently; physical therapists are trained to assess a person's gait and ambulation skills and to provide intervention in this area. Often a girl with RTT may benefit from a program of intervention designed to increase independent ambulation skills. Others may benefit from treatment designed to provide a compensatory means of achieving mobility such as using an ambulation device such as a walker, a gait trainer, or a wheelchair. Often these measures are combined with the use of orthotic devices such as AFO's (ankle foot orthosis) that help to stabilize joints used in walking.
Access to physical environments can be addressed by physical therapists in the home, school and community. Physical therapists can help to identify physical barriers to entry and participation in environments based on a person’s method of mobility. Physical therapists can help families to identify needs across environments and to make choices for mobility products that will be versatile and practical across a number of environments.
Procurement of durable medical equipment such as a wheelchair, mechanical lift, transport vehicle (i.e. stroller or carseat), custom mobility aid or positioning device (stander, seating system) can be facilitated by a physical therapist. Often an insurance company requires a prescription from a physician for such a device along with an evaluation and letter of medical justification from a physical therapist for this type of equipment. Many physical therapists have received advanced training in this area; it is wise to seek a PT with expertise in the field of identifying and fitting durable medical equipment when a person’s seating, positioning, and mobility needs are significant.
Modalities such as massage, hydrotherapy, ultrasound, and superficial heat are sometimes used in physical therapy treatment to alleviate symptoms such as muscle cramping and tightness and lower back pain. These modalities may be beneficial to some individuals experiencing these types of symptoms; some physical therapists specialize in these types of treatment.
A person's need for physical therapy intervention can change across the lifespan. As an individual grows and physically matures, changes in function impacted by areas addressed by a physical therapist may change. It is therefore recommended that parents consult with their child's physician at regular intervals to determine the need for physical therapy.
Included below is a resource that may be of benefit.
American Physical Therapy Association
http://www.apta.org
Occupational Therapy
Occupational therapy is skilled treatment that helps individuals maximize their potential to be independent in all facets of their lives. It focuses on helping individuals engage in typical occupations across the lifespan. Playing, learning, socializing, and participating in family and community activities are typical occupations of childhood. An occupational therapist can help improve and/or maintain the ability of a child with Rett Syndrome to participate in childhood occupations in any or all of the following areas:
- Daily living skills such as dressing, grooming, hygiene, and eating. Girls with RTT typically have a progressive loss of hand function that impacts their ability to engage in personal care activities. Occupational therapy can help to identify residual skills and/or alternative methods that can be used to continue to offer girls the opportunity to participate in their own care to the greatest extent possible. Teaching girls with RTT aspects of self-care activities such as the sequence of daily care routines will let them know what to expect along the way. This can help to reduce anxiety about what will happen next, something that is particularly important as girls get older and may have a number of support people in their life. In addition, occupational therapists can work with care providers and girls with RTT to teach them how and when to safely shift their weight and perform surface transfers. In addition, structuring activities of daily living to include choice making in areas such as scheduling, clothing selection, and product preferences can contribute to having girls develop a sense of self. Lastly, occupational therapists can help with oral motor skills necessary for eating and preserving the structural integrity of the mouth.
Functional motor skills necessary for both fine and gross motor actions. Girls with RTT demonstrate a deterioration of motor skills affecting both upper and lower extremities. Loss of motor function is typically accompanied by an increase in the resting tension of muscles in both the arms and legs. This increased muscle tension or “tone” may be persistent, causing muscle spasticity or tightness. When muscles are spastic for prolonged periods of time they may become permanently shortened and prevent joints at the fingers, elbows, shoulders and knees from extending to their full range. This condition can also occur in the trunk and impact respiration and skeletal alignment. Occupational therapists are trained to assess and treat muscle function and range of motion. Depending on the progression of the muscle tightness, occupational therapist’ can monitor and prescribe activities and exercises that can be carried out across the day that will help preserve the integrity of the muscles and the joints they support. As girls get older occupational therapists can recommend and fabricate splints or other means of limiting damage to the joints, preserving functional capabilities to the greatest extent possible. Occupational therapists can also provide assistance in recommending positioning and postural alignment options that can be used throughout the day to ensure comfort and preserve and enhance skeletal alignment. In addition, occupational therapists have training in occulomotor skills and can provide insight into the use of eye pointing as a functional communication skill.
Functional communication skills necessary for participating in social activities. Occupational therapists can contribute to the development of functional communication skills in girls with RTT by introducing simple augmentative communication strategies such as eye gaze, picture cards, visual symbols, or the use of body language to indicate a choice or communicate a need. Occupational therapists can also contribute information to a more comprehensive interdisciplinary communication assessment.
- Access and participation in community and school activities including extracurricular activities. Occupational therapists specialize in finding innovative solutions to issues of access and participation. Access issues can be physical such as how to complete a writing assignment in school or where to place academic materials for optimal viewing; environmental such as how to participate in a field trip, or they can reside in other people’s expectations. Participation may be optimized by the expertise of an occupational therapist through adapting aspects of typical occupations that allow access for persons with disabilities. In most cases access and participation are achieved in one of two ways, either through remediation, an approach that “fixes” a deficit, or through compensation, which means finding another way to make access and participation possible. Occupational therapists have the training necessary to determine when a specific approach is most appropriate.
Participation in leisure activities. RTT is diagnosed in most girls within the first few years of life. These are the years in which children spend the majority of their day involved in play activities. As children grow into adolescents and adulthood, their need for play and leisure changes, but remains a critical component of a healthy, balanced life. Occupational therapists are trained in the pursuit of leisure occupations and understand the importance of leisure activities in the development of the roles that human beings engage in across the lifespan. Occupational therapists can work with girls with RTT and their families and care givers to ensure that leisure activities remain an integral part of the individual’s repertoire of interests. Occupational therapist can facilitate engagement in age-appropriate activities that bring satisfaction and enjoyment to girls as they mature. Activities such as listening to music, hearing stories, watching movies, playing games, participating in extracurricular activities and going places with family and friends are important to the development of all children.
- Understanding and processing sensory information. Many girls with RTT have difficulty with the processing of sensory information. Occupational therapists are trained to identify sensory needs as well as to provide strategies, modifications and intervention in the area of sensory integration. In some instances strategies that assist with the regulation of sensory processing can be beneficial in reducing anxiety and promoting self-regulating behaviors. Often times, sensory problems can be addressed through environmental modifications well known to occupational therapists such as regulating temperature, lighting and sound in busy environments.
Adaptive equipment. Occupational therapists are well trained in the area of adaptive equipment. As girls with RTT grow up, their need for adaptive equipment will change and in most instances increase. Typically, adaptive equipment includes items that support personal care, positioning, transportation and mobility. Some of the most common items are listed in each category below.
- Personal care: toilet seats, bath seats, mat tables, rolling shower chairs, lift systems, adaptive beds.
- Positioning: adaptive seating systems (i.e. Tumbleforms, corner chairs, positioning chairs with trays), standing frames, side lying bases, feeding chairs.
- Transportation: adaptive strollers, transport strollers, car seats or positioning vests, accessible vehicles.
- Mobility: walkers, gait trainers, wheelchairs.
Home and environmental modifications. Occupational therapists have training in identifying the need for home and environmental modifications. As girls grow up they will most likely need some level of modifications made to their residence. The most common types of modification consist of those necessary to promote access such as ramps and the structuring of the space to support the use of a wheelchair. Other typical modifications include a method to safely lift and move the person from one surface to another, such as in and out of a wheelchair, as well as a method for safely showering, using the toilet and sleeping.
Assistive technology. Occupational therapists have training in the use of assistive technology to promote functional outcomes in people with physical and cognitive disabilities. Girls with RTT can benefit from the use of assistive technology across the range of low-tech devices such as eye gaze systems to mid-range devices such as switches to activate a toy or a cause and effect program on a computer to higher level devices that provide computer access to the general education curriculum or provide a means of voice output communication.
A person’s need for occupational therapy services can vary across the lifespan. Changes caused by physical development and maturation as well as those brought on by a change in medical status can require therapeutic intervention. It is recommended that the need for medically-based occupational therapy services be discussed with the physician on a regular basis as well as when specific medical intervention has occurred. Additionally, girls with RTT who require occupational therapy services to benefit from a free and appropriate public education are entitled to those services under the Individuals with Disabilities Education Act.
Included below are some resources that may be of benefit.
American Occupational Therapy Association
http://www.aota.org/
Assistive Technology Industry Association
http://www.atia.org/
The Alliance for Technology Access
http://www.ataccess.org/
New England Assistive Technology Marketplace
www.neatmarketplace.org
Speech Therapy
In reality speech therapy for children with Rett Syndrome should be called communication therapy. The goal of speech therapy is to expand communication via any available means. Rett Syndrome affects expressive language, meaning verbal speech, much more then receptive language, meaning the understanding of language. Individuals with RTT often attempt to communicate via their eyes and body language. A knowledgeable speech therapist will thoroughly, over a period of time, evaluate a child’s ability to understand, as well as her movement patterns to determine what techniques are best suited. Low tech options include eye gaze response using flashcards, eye gaze frames, picture boards, head pointers while high tech devices may include voice output devices and computer systems equipped with special software and operated via switches.
A speech therapist will often collaborate with an occupational therapist with regards to oral motor work and positioning.
The most important point to remember is that individuals with Rett may have lost their ability to speak but they have not lost their desire to communicate.
Included below are some resources that may be of benefit.
AbleNet, Inc.
www.ablenetinc.com
Closing the Gap
www.closingthegap.com
Creative Communicating
www.creativecommunicating.com
DynaVox Systems
www.dynavoxsys.com
Enabling Devices
www.enablingdevices.com
IntelliTools
www.intellitools.com
Laureate
www.laureatelearning.com
Mayer-Johnson
www.mayer-johnson.com
R.J. Cooper
www.rjcooper.com
Alternative Therapies
Sensory integration is the ability to take in information through the senses and integrate and organize this information in the brain. Children with RTT may have a dysfunctional sensory system in which one or more senses overreact or under react to stimulation from the environment. Sensory integration therapy focuses primarily on three basic senses-tactile (touch), vestibular (sense of movement), and proprioceptive (body position). The goal is to help the individual organize or modulate the sensory information in order to have a more organized response to sensory stimuli.
Aquatic therapy, also known as hydrotherapy, is another form of physical therapy that is typically enjoyed by children with RTT. Water provides a non-weight bearing medium with hydrostatic pressure to give sensory input. It is an ideal environment for passive range of motion and sensory regulation. The warm temperature prompts muscle relaxation, facilitates stretching and generally reduces stress.
Yet another modality is therapeutic horseback riding or hippotherapy. Children ride with supervision in a variety of positions on the horse to promote increased balance and coordination, muscle strength, mobility, gait and head control.
Massage therapy can be very beneficial to increase flexibility, improve circulation, relax muscles, influence scoliosis, counteract spasticity as well as provide sensory stimulation.
Anecdotally, craniosacral therapy is purported to assist girls with RTT in overall function. Practitioners, who may also be physical therapists or other medical professionals, use gentle ‘manipulation’ to ostensibly alter the neurological structures of their clients. In contrast, chiropractors are often utilized to prevent the musculoskeletal complications, most importantly, scoliosis.
The use of a Snoezelen environment may offer a mode of relaxation for individuals experiencing anxiety. Snoezelen is a sensory stimulation concept that was developed in Holland. It uses lights, sounds and sensations to assist persons with sensory regulation. Snoezelen rooms may have water mattresses, alternative lighting, visual image projection and auditory stimulation.
Music therapy uses music to address physical, emotional, cognitive and social skills of individuals. Music therapy interventions can be designed to promote wellness, manage stress, alleviate pain, express feelings, improve communication and promote physical rehabilitation.
Music is of significance interest and motivation to individuals with RTT and can decrease agitation, improve hand use, facilitate learning, increase vocalizations, convey feelings and facilitate interactions. It can also improve visual focusing and encourage physical activity. The ability of the therapist and child to communicate without words but through music makes this type of therapy unique and enjoyable.
Included below are some resources that may be of benefit.
Sensory Integration Resources
www.comeunity.com
Sensory Integration International
www.sensoryint.com
Aquatic Physical Therapy
www.aquaticpt.org
American Hippotherapy Association
www.americanhippotherapyassociation.org
The Pegasus Program
pegasusprogram.org
American Massage Therapy Association
http://www.amtamassage.org/
American Osteopathic Association
http://www.osteopathic.org/
International Snoezelen Association
http://www.isna.de/index2e.html
American Music Therapy Association
http://www.musictherapy.org
West Music
http://www.westmusic.com/
Education
Children with Rett Syndrome can and do continue to learn. As with all children, their learning styles and temperaments vary. The needs of your child and family, as well the resources available locally, should be considered in developing a quality educational program tailored to your child.
You can find children with RTT involved in a wide variety of school settings. They are served in specialized schools for children with disabilities and in neighborhood schools providing full inclusion in general classrooms. They may receive individually designed programs that fall somewhere between. Some children are educated at home by parents with or without additional school services.
The types of programs benefiting children vary as well. Some children with RTT progress with highly structured methods typically associated with autism. Applied Behavior Analysis (ABA) is the most commonly known program of this type. Other children thrive on naturalistic approaches. A whole language classroom provides this type of learning, as do schools offering the functional Move International curriculum (http://www.move-international.org/). Individualized programs may include elements from both ends of the continuum.
The Individuals with Disabilities Education Act (IDEA) protects the educational rights of all children. Children who are diagnosed before the age of three generally qualify for early intervention services in Birth to Three programs. Just as with later education, early intervention services should be designed to meet your child’s needs. For example, a child who is overwhelmed by group activities may receive services individually. Services may be more appropriate in a therapy center or in the home depending on your child’s needs. The Individualized Family Service Plan (IFSP) is both a collaborative process and a written plan that details the services and outcomes for your child.
www.ed.gov
www.familyvillage.wisc.edu
www.coping.org
www.zerotothree.org/
Children from age 3 to 21 are served in schools under an Individualized Education Plan (IEP). This is again both a process and a legal document that specifies your child’s learning goals and the steps for achieving them. It describes the setting and services that will allow your child to reach these goals and to participate in activities. It details any adaptations to academic methods or materials that are required to allow your child to learn, such as reduced assignments or picture symbol support. If your child needs modifications to the environment to be safe and functional, such as a wheelchair ramp or special seating, it would be included as well. A team of teachers, therapists, school administrators, and parents works together each year to create and write out the plan. Parent participation in planning the IEP is critical.
www.wrightslaw.com/
www.cec.sped.org
ericec.org/
There is a number of additional services available in the schools to help your child learn. Physical therapy, occupational therapy, communication or speech/language therapy, health-related services, and specialized transportation are some of the many services offered. If you are unclear about how any of these therapies and services might benefit your child, be sure to ask.
In planning your child’s education, remember several things. First, your child should be given ample opportunities to learn. While no one can predict the level which your child will achieve, the absence of opportunity insures that no learning will occur. Also, remember that it is challenging for children with motor planning and communication issues to demonstrate what they know. You may have to advocate strongly for your child with the schools, encouraging them to keep working to find ways to help your child express what she thinks and knows. Another thing to remember is that you know your child best and can provide great insight into your child’s learning style. Because RTT may be unfamiliar to the staff working with your child, you may need to educate and encourage them. Your importance on the IEP team cannot be stressed enough.
Above all, celebrate your child’s learning. Every accomplishment, regardless of size, represents much hard work and deserves recognition and praise. Enjoy the success with your child and let her know how proud you are!
Additional information on various educational topics:
Applied Behavior Analysis (ABA)
www.shapingbehavior.com
www.asatonline.org
www.abatherapists.com
Communication:
aac.unl.edu
atto.buffalo.edu
www.setbc.org
Inclusion:
www.projectparticipate.org
circleofinclusion.org
www.newhorizons.org
Glossary of Special Education terms:
www.fetaweb.com
www.parentpals.com
www.nea.org
