Rett Syndrome is a neurological disorder that mostly affects the girls.1 Its characteristics include normal early development followed by slowing down of the distinctive and purposeful hand movements, seizures, problems in walking, intellectual disability, and severe language delay. One in every 10,000 – 15,000 infant girls develops Rett syndrome. It has an ethnic as well as the racial prevalence. Though, this syndrome is assumed to be a neurodegenerative disorder, it is actually a neurodevelopmental disorder.
Occupational Therapy for Rett Syndrome
Rett syndrome impacts the nervous system and results in developmental delays. It causes problems in the functioning of the brain, which is responsible for the sensory, cognitive, motor, emotional, and autonomic function. The problems experienced are varied and hence, the child needs multiple therapies to lead a better and productive life.
Occupational therapy is one such rehabilitation therapy which helps a child with Rett’s syndrome to improve on the skills they lag. Prior to the onset of occupational therapy, a child with Rett syndrome should be assessed regarding their needs and accordingly a treatment plan is devised. Before understanding the ways in which occupational therapy helps a child with Rett’s syndrome, let us first see the different problems that a child suffers from.
Role of Occupational Therapy for Rett Syndrome Occupational Issues
Rett syndrome can greatly impact a child’s functional abilities. Although it may sound simple, but children with Rett syndrome are unable to perform their day to day tasks, which can make them feel embarrassed and even frustrated. Also, some of the inabilities to perform necessary actions can affect their health too. This is where occupation therapy for Rett syndrome comes into picture.
The following features of Rett syndrome can impact a child’s day-to-day activities. Children with Rett syndrome go through the following occupational performance issues:
- Complete or partial loss of acquired hand skills
- Complete or partial loss of acquired spoken language
- Gait abnormalities
- Stereotyped hand movements include wringing, clapping, squeezing, tapping, hand-wash, and mouth movements
- Impaired sleep
- Breathing disturbances while awake
- Tooth grinding while awake
- Abnormal muscle tone
- Reduced sensitivity to pain
- Screaming spells
- Intense eye communication.
Issues Related to Day-to-day Activities at Home
- Tying shoelaces
- Carrying objects
- Listening to instructions
- Making drink and food
- Brushing teeth
- Personal hygiene
Issues Related to Academic Performances at School
- Poor handwriting
- Moving between the classes
- Communicating with peers
- Difficulty in cutting
- Intolerance in sitting
Behavioral/Social Issues in Rett Syndrome
- Difficulty in making friends
- Understanding boundaries
- Understanding social cues
The primary objective of occupational therapy is enabling people to participate in the activities of the daily lives of people. Occupational therapy assists the patients to overcome the performance issues by working together with communities and people for enhancing their ability so that they can engage themselves in the occupations they need to or want to either by modifying the environment or the occupation.
The objective of occupational therapy is helping to improve the ability of a person to perform the various tasks and activities in their daily lives. The therapy assesses the client for performing a wide range of routine activities. These include the basic skills like washing, feeding, toileting, and the skills required for work. Occupational therapy is to help a person learn the skills they require for the purpose of living. Depending on the assessment, an occupational therapist shall make recommendations and suggestions regarding Assistive Technologies, which can help in daily living. It includes walkers, wheelchairs, seating, beds, communication devices etc. They make suggestions to adapt to the physical environment wherein the person stays.
Occupational Therapy Assessments for Rett Syndrome
Reliable and accurate evaluation is a difficult job regarding a child but the occupational therapists offer it. For gathering all kinds of important information, occupational therapists use different methods for the decision-making process. A combination of interviews, standardized as well as non-standardized tests, and skilled observations can determine the status of a child with Rett Syndrome.
Skilled Observation for Rett Syndrome:
The ability to observe keenly and recording the behavior of the child accurately is an important skill in Occupational Therapy or OT. It is tough to administer a test. A skilled observation can be more tolerable. When you use the skilled observations, the therapists should have an object to record and the process should be systematic in order for the data collection to be trustworthy.
Mobility and Seating Assessment:
Due to the nature of Rett Syndrome, the majority of the girls are not able to ambulate independently. Using a wheelchair or a mobility aid is needed for making the right match. There are several methods to assess the seating and wheelchair needs. You need to consider the other attachments and devices that accompany a wheelchair like communication, boards, switches, etc. The objective of mobility/seating assessment is analyzing and gathering information while recommending the equipment for the complicated clients. Occupational therapy for Rett syndrome includes this as well.
The areas that should be addressed during the evaluation are as follows:
- General information and goals of the family/clients
- Wheelchair mobility
- Perceptual-cognitive status
- Communication needs
- Spinal alignment
- Cushion/Seating for comfort and skin integrity.
Fine Motor/Hand Focus in Children with Rett Syndrome:
Loss of the hand function skills at the time of early childhood to a lower level is a symptom of Rett syndrome. Poor functioning of hand is a core diagnostic criterion, an informative sign to diagnose Rett syndrome. Occupational therapy for Rett syndrome gives special attention to this area and also works on improving the function.
Sensory Profile for Rett Syndrome:
The sensory profiles are collected as:
- Questionnaire completed by teachers or caregivers
- Evaluates the way sensory needs affects the child’s functional activities
- Identifies triggers, which may result in sensory distress to a child.
Cognitive Assessments for Rett Syndrome:
The signs which are looked for are:
Cognitive function cannot be assessed in Rett syndrome effectively because of the inability of the girls to show effective communication and purposeful hand skills.
Advances in the computer-based technologies using the eye gaze tracking have provided communication that suggests interaction level that was not recognized earlier. The slow response time of the child when you ask them to answer needs to be noted. Usually, more than some seconds to almost half a minute are needed for eliciting a response from a child.
Assessing cognitive function is extremely problematic in children with Rett syndrome and will need objective assessment.
Occupational Therapy and other Associated Therapy for Rett Syndrome
There are several methods that can help in reducing Rett syndrome. Most of the treatments are supportive and they aim to address the specific symptoms of this syndrome instead of curing the disorder entirely. The objective of the treatment is to discontinue its decline, maintain or enhance movement, and support communication and social contact. Most physicians and families have found out that the treatment works best when an interdisciplinary approach including the diverse range of therapies are used.
The therapies range from the traditional approaches to the experimental and the new ones including the following:
Occupational therapy defines the interventions and goals for optimizing the basic skills like chewing, dressing, brushing teeth, drinking, and self-directed activities like recreational and play activities. Occupational therapists offer the children suffering from Rett syndrome more control over the involuntary movements. It can improve the hand movements and can prevent the hands from contracting.
Physical therapy helps in improving or maintaining balance and mobility, address reduced motor skills, strengthening muscles, and maintaining flexibility. Physical therapy is directed towards prevention of deformities like reducing the joint contractures. Weight-bearing exercise is helpful for the health of bones. Maintaining a good postural alignment as well as bracing can help in the slow growth of scoliosis.
Speech-language therapy can help in communication developing skills that include using non-verbal communication forms and other augmentative communication methods. Music therapy is also popularly practiced for children with Rett syndrome and can show positive results.2 This has also been an important part of occupation therapy for Rett syndrome.
The other health care professionals include orthopedic surgeons, pulmonologists, gastroenterologists, neurologists, cardiologists, developmental pediatricians, developmental specialists, nurses, and special education providers. They are important members of this team who can help in treating a child with Rett syndrome effectively.
Rett syndrome is a genetic disorder but it rarely passes from one generation to the other. Modern genetic testing is available to detect whether a family member is carrying the responsible gene or not. The disease can be detected at early childhood observing the symptoms and through some diagnostic processes. The disease is not curable; doctors can undertake only symptomatic treatments. Since the disease is really rare, no specific assessment of its prognosis is available. Though the symptoms can create complications, many women lead active life even after the 40s and 50s with the help of supportive treatments. Occupational therapy for Rett syndrome is useful in the assessment of the illness and finding dependable remedies. However, occupational therapies are also symptomatic management and depend a lot on observation.