Q&A: What Are The Basic Features Of Rett Syndrome?
By: Ingrid Harding
Founder and President
Girl Power 2 Cure, Inc.
Rett Syndrome is a neurological/movement disorder which predominantly affects girls (approximately 1 in 10,000). Many attain developmental milestones from birth to age two or three, but then begin to regress. Others are slow to develop from birth. It affects all aspects of motor control. In addition, there are cardiac, respiratory, gastrointestinal and orthopedic concerns. Rett is considered a “full-spectrum” disorder with varying severity and phenotypes depending on the child’s unique genetic makeup, specific mutation, and/or percentage of cells skewed to use the mutated vs. the healthy copy of the Rett gene.
Most girls have repetitive hand wringing and/or mouthing, although the age of onset varies. Another common symptom is disordered breathing to include hyperventilating, breath holding and shallow breathing. Teeth grinding is also prevalent.
From the Rett Syndrome Research Trust Website (http://www.rsrt.org
- Rett Syndrome is the most physically disabling of the autism spectrum disorders.
- It strikes at random in early childhood, affecting little girls almost exclusively.
- Many girls live into adulthood, requiring total, 24-hour-a-day care.
- There is no treatment beyond supportive, and often ineffective, measures such as feeding tubes, bracing, orthopedic and GI surgeries, and medications for anxiety and seizures.
- First recognized only 25 years ago, the prevalence of Rett Syndrome equals that of Cystic Fibrosis, Huntingtons and ALS.
- Loss of speech and motor control
- Functional hand use replaced by compulsive hand movements
- Disordered breathing
- Severe digestive problems
- Orthopedic abnormalities including scoliosis, hip problems, rigidity, contractures, fractures
- Disrupted sleep patterns
- Extreme anxiety
- Impaired cardiac and circulatory function
- Parkinsonian tremor
What skills/strengths do these children have?
- Rett patients are generally social and respond favorably to touch and interaction.
- They have a strong eye gaze which remains consistent despite motor issues which can be leveraged for communication and computer access
- They are capable of learning both physically and academically.
- They are able to communicate basic emotions through body language and vocalizations.
- Their receptive learning/understanding level is high.
- Given a way to communicate they can indicate higher level reasoning and learning.
- Usually love books and the computer
- Able to persevere past the apraxia in a supportive, encouraging environment
What key things impede their ability to progress?
- Lack of stimulating environment (physical and academic)
- Severe apraxia
- People thinking it is more of a cognitive issue than an apraxic issue
- Poor balance
- Poor sensory integration
- Erratic breathing
- Disruptive, uncontrollable hand movements
- Extreme anxiety
- Seizure activity
What should I take into account when presenting tasks to the child?
- Assume competence cognitively
- Look for things that are highly motivating to incorporate into the task or into the “reward” for participating. (Food, music, favorite book)
- Expect anxiety when presented with new things. Keep first exposure short and then increase time at each subsequent session.
- Communicate with child what your expectations are.
- To lessen anxiety, have a way for the child to communicate with you.
- Read their communication first – be a “meaning maker” to all their attempts
- Give fun ways to communicate: real comments, expressions, arguing, etc. — not just requesting.
- Give them choices.
- Be sure they are properly/securely positioned.
- It helps to move items you want them to attend to in order to recapture attention
- Do not necessarily take non-response or frustration as a sign the child cannot do the activity. Often, these girls are bored and unmotivated at the cognitive level being presented.
- Try not to “undershoot” the girls for example by putting them in repeated demand situations (look at …., point to…)
What kind of pace is beneficial?
It is important to break down tasks into very small steps and stretch out over a long period of time with a lot of repetition. Each step should provide an opportunity for success.
Example: Learning to use a light switch.
- Stage One: Approach switch with child and verbally talk about the switch and turn it off for them.
- Stage Two: After verbal prompt, use hand-over-hand to model.
- Stage Three: Approach light, give verbal prompt, but wait for ANY reaction (head turn, hand jerk, etc) before using hand-over-hand.
- Stage Four: Follow above, but wait for increased reaction (hand touching anywhere on the wall).
- Stage Five: Follow above, but wait for increased more precise reaction (hand touching general vicinity of switch)
- ETC ETC ETC.
*It is important to give enough time and wait for initiation of response from child. Sometimes their bodies are not able to react for 30-60 seconds or more. If they look toward the item accept that as communication and build on it.
What is the best environment to work in?
- The ideal setting would be a quiet place with little distraction or sudden noise.
- Avoid bright lights or shiny objects which can be very distracting.
- Keep the surroundings predictable for each session.
- Incorporating a sensory rich environment can increase success (music, rhythm, deep pressure/weighted vest, etc)
- Incorporating a consistent mode of interactive communication for the activity
What do these children tend to enjoy?
Music, water, face-to-face contact, weight/pressure/massage, swinging, small group or one-on-one interaction with normal peers. People who are fun, funny, engaging, exciting, and those who wait for them and believe in them.
What generally causes stress in these children?
- Not being able to communicate
- Change / new things
- Sudden noise
- Physical pain from gas pains, air swallowing, constipation and other issues.
- People who don’t talk to them like they are people
- Remember: Avoid negative comments/commentary in their presence – they understand and will internalize the information.
What kind of communication can I expect/work towards with a child with Rett?
Many of the Rett patients have had success with the following:
- Big Mac and Step-by-Step switches
- Yes/ No cards
- Boardmaker icons
- Talkers like the Tango, Dynavox
- Fairly new: Eye gaze computer systems: EchoPoint, Dynavox EyeMax, MyTobii
If they are not capable of “swatting” at a switch with their hand, consider other placements for access with their head or cheek.
- Look for every opportunity to assign meaning to their movements and vocalizations.
- Eye gaze systems (hi and lo tech) will be the most consistent over time.
- They are capable of symbol recognition as well as learning to spell/read.
Which key classroom/therapy supports may be needed?
- Positioning: chair with proper back and foot support with tray for feeding and activities, stander with activity tray
- Communication: Various switches, eye gaze system (low tech boards and hi tech infared computer systems are available)
- Sensory: Weighted vest, weights for wrists and ankles, swing, music player
- Arm braces to give hands a break from mouthing and wringing
- Small bite-size snacks and water should be available throughout the day
- Laminated materials
- Slant board for easier reading
What would be helpful in writing their IEP goals?
Progression in their learning follows the same patterns as “normal” children, it is the timeline that is extended to a great degree.
What is the long-term prognosis?
While many patients with Rett Syndrome live into their 40s and 50s, they require total, 24-hour-a-day care. Ongoing therapy is critical to their well-being.
What is the research outlook?
Rett Syndrome is most often caused by a sporadic mutation in the MECP2 gene, causing underproduction or misproduction of a protein that plays a key role in turning on and off other genes. In 2007, researchers were able to reverse the symptoms of Rett in fully mature mice only days from death by reestablishing normal protein levels in the brain. It is possible that Rett Syndrome will be the first curable childhood neurological disorder.
This Month’s Featured Author: Ingrid Harding
We thank Ingrid Harding for preparing this Q&A for our newsletter.
Ingrid Harding, certified teacher and mother of a daughter with Rett Syndrome, founded the nonprofit organization Girl Power 2 Cure, Inc.(http://www.girlpower2cure.org/) in May 2006. She wanted to find a way to engage young girls with their special needs peers after watching wonderful bonds form between her own daughter and her classmates in school.
Girl Power 2 Cure has been a successful mainstream avenue for raising awareness and research funds for Rett Syndrome. Since its founding, the group has engaged tens of thousands of supporters and volunteers around the country. Two main programs of GP2C are a “Girl Power” music therapy CD as well as a resource website for parents called RettGirl.org.
Ingrid has worked with dozens of therapists, met with countless physicians and attended many conferences and workshops on Rett Syndrome.
Ingrid is also the co-founder and a Trustee of the Rett Syndrome Research Trust, an organization focused solely on research towards treatments and a cure for Rett Syndrome.
Prior to Girl Power 2 Cure, Inc., Ingrid was CEO & Program Director for PlayhouseRadio.com, an Internet children’s music station.
Ingrid works from her home in Florida with her husband Peter, an internal medicine physician, and three children: Pierce (12), Sarah (9) and Gretchen (7).
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