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Transcript of Rett Syndrome
What is Rett Syndrome? Rett Syndrome (RS) is a unique developmental disorder that is first recognized in infancy and seen almost always in girls. It is found in all racial and ethnic groups throughout the world, and in every socioeconomic class.
Rett syndrome is a disorder of the nervous system that leads to developmental reversals, especially in the areas of expressive language and hand use.
Rett syndrome has been most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. Causes
Studies have linked many Rett syndrome cases to a defect in the methl-CpG-binding protein 2 (MeCP2) gene.
This gene is on the X chromosome.
Males born with this defective gene do not have a second X chromosome to make up for the problem.
The defect usually results in miscarriage, stillbirth, or very early death.
The condition affects about 1 out of 10,000 children. Groups of the disease have appeared within families and certain geographic regions, including Norway, Sweden, and northern Italy. Characteristics
Characteristics of RS can range from mild to severe and may include:
Breathing problems -- problems tend to get worse with stress; breathing is usually normal during sleep and abnormal while awake
Change in development
Excessive saliva and drooling
Floppy arms and legs -- frequently the first sign
Intellectual disabilities and learning difficulties (assessing cognitive skills in those with Rett syndrome, however, is difficult because of the speech and hand motion abnormalities)
Shaky, unsteady, or stiff gait; or toe walking
Slowing head growth beginning at approximately 5 - 6 months of age
Loss of normal sleep patterns
Loss of purposeful hand movements; for example, the grasp used to pick up small objects is replaced by repetitive hand motions like hand wringing or constant placement of hands in mouth
Loss of social engagement
Ongoing, severe constipation and gastroesophageal reflux (GERD)
Poor circulation that can lead to cold and bluish arms and legs
Severe language development problems By: Renee Bucci, Student Occupational Therapist Expectations The disease slowly progresses until the patient is a teenager. Then, symptoms may improve.
Developmental regression or delays vary.
Life expectancies are not well studied, although survival at least until the mid-20s is likely. The average life expectancy of a girl with Rett syndrome may be mid-40s.
Death is often related to seizure, aspiration pneumonia, malnutrition, and accidents. Therapeutic Avenues Occupational therapy (OT) is important in addressing problems girls often have with functional and purposeful performance. OT provides ways to help increase use of body, particularly hands. Since girls with RS have difficulty using hands, OT is essential for most of ADLs.
Increasing hand use gives more satisfaction, confidence, and great joy.
Important areas for OT concentration:
eating and feeding skills
use of adaptive equipment and switches
augmentative and alternative communication
Therapy Ideas Look for potential.
Keep in mind the affect of dyspraxia. Often times there is a marked delay between a prompt and reaction.
Progress is often very slow, if not absent.
Ideas to encourage functional hand use:
Sensory input for hands (e.g. massage, exposure to a variety of textures, etc.)
For apraxia and ataxia:
Weighted vests can be calming and decrease ataxia in some girls
Use of a therapy ball
Rotation and weight-shift activities
Vestibular movement activities (if tolerated)
Positioning for safety (eg during mealtimes) and tone reduction
Tone reduction activities such as rotation, weight-shift, vibration can temporarily reduce spasticity
Positioning to ensure a symmetrical and erect posture in sitting (as far as possible) Examples of Goals Identify and encourage use of head, elbows, or other body parts over which she may have better control.
Maximize hand use for functional activities.
Develop ability to access communication devices.
Develop ability to access a variety of assistive technology.
Improve ability to assist with dressing.
Improve ability to perform independent feeding skills.
Improve ability to assist with grooming activities.
Improve ability to tolerate sensory input in school setting.
Focus on enjoyable hand activities during the regression phase (rather than on fine-motor skills).
Provide physical assistance.
Support Groups International Rett Syndrome Association www.rettsyndrome.org
Hunter, K. 2007. The Rett Syndrome Handbook, 2nd ed. International Rett Syndrome Association: Clinton, MD.
Lawton, M., & Gutierrez, B. (2005). Role of occupational therapy in Rett Syndrome. Occupational Therapists, Children’s Hospital at Westmead.
http://www.rettsyndrome.org/content/view/818/1130 Teachers Family and Child Therapist Working Together Child's Peers Orthoses and Assistive Devices to Consider Splints can position thumb for grasp
Adapt materials to make easier to grasp
Switches for independence and leisure/pleasure
Augmentative and Alternative Communication (AAC) Most girls will benefit from Augmentative and Alternative Communication (AAC), which includes any methods used in place of speech.
Everyone uses AAC through written language, body language and facial expression.
These avenues may be difficult for the girl with RS, so she may need to use eye-gaze, head pointing, communication boards, switches and voice output communication devices.
Methods for AAC could be divided into three levels of technology complexity.
No tech methods
Low tech methods
High tech methods
Case example of high tech method:
Video of client trialing Tobii with eye-gaze to communicate her preferences. Questions? Comments?