This document provides information on setting goals and achieving function for children with Rett Syndrome. It discusses common motor difficulties associated with Rett Syndrome and therapeutic approaches. It identifies how to assess hand function and establish treatment goals. It also identifies common feeding difficulties and how to establish goals. Finally, it provides examples of adaptive community activities. The overall goal is to improve quality of life and find ways for children to participate in their daily environment.

1. 1
Setting Goals and Achieving Function:
Margaret Spring, MS OTR/L
Occupational Therapist
Childrens Hospital Colorado

2. I have no financial relationship or
any commercial interest related to
the content of this presentation.
Disclosures

3. 3
Inspiration
“When you have exhausted all
possibilities, remember this:
You haven’t.”
-Thomas Edison

4. • Children with Rett Syndrome (RS) have:
• severe intellectual disability
• progressive decline of adaptive behaviors
• withdrawal, isolation, and passivity
• minimal positive interactions with their environment
• reduced sensory stimulation and deprivation
• This negatively affects quality of life.
• In 3 girls with RS, assistive technology aids:
• increased occupational opportunities, engagement and choice
strategies
• reduced stereotypic behaviors
• improved self-control on environmental inputs
• provided a variety of preferred stimuli
• positively affected patient moods
Why we are here…
Stasolla F, Res Dev Disabil, 2015; 36:36

5. 5
It’s all about quality of life and finding ways for
each child to participate in their environment on
a daily basis.
So how do we go about doing this?
TRUTH!

6. • Identify common motor difficulties associated with
RS and the best therapeutic approach
• Identify how to assess hand function to help establish
treatment goals
• Identify common feeding difficulties associated with
RS and how to establish goals for feeding
• Identify adaptive community activities for your child
Objectives

7. Gross Motor Development
Specific Motor Challenges:
• Hypotonia (low muscle tone)
• Ataxia (limited coordination of voluntary muscle
movements)
• Apraxia (difficulty performing learned purposeful
movements)
• Spasticity
• Difficulty developing or the loss of transitional
movements
• Loss of hand function
• Scoliosis (asymmetrical spinal posture)
• Seizures
• Alterations in foot postures
• Low cardiovascular capacity
• Spatial disorientation

8. Therapy Approach
• Paradigm shift: Having a relatively clear picture including clinical features
and course carries the inherent risk that we would limit our expectations
and, in turn, our investments. It is vital to invest in the strengths of
individuals with RS and aim toward their highest potentials.
• What is the game plan? Ongoing and multidisciplinary treatment
interventions are important.
 Know your opponent – RS imposes neuro-motor obstacles (ataxia, apraxia,
dyspraxia, altered tone, etc.), which disrupt the progression and retention of
motor development.
 Practice – Motor development is driven by practice and meaningful repetition is
key.
 Keep practicing – Regression is a risk.
 The ball is always in play – Every environment which an individual engages is an
opportunity for meaningful practice. Every individual, with whom your child
interacts with on a consistent basis, is a potential team member.
 You are the coach – Communication is vital to create and implement an effective
plan.
• The clinical picture is dynamic: Some individuals demonstrate the ability
to regain skills, which appeared previously to be lost.

9. Therapy Approach
• The individual with RS is, in some ways, controlled by
her or his body instead of being in control of the body.
 Fear can be a significant obstacle to movement.
 Building and supporting trust as a foundation for treatment is
vital.
• Psychologist Abraham Maslow suggested, “Therapy
may be conceived as a miniature ideal society of two.”
 Therapies seek to create a miniature ideal environment for
success in achieving specific movements.
 Clinical treatment offers the opportunity to practice the
successful movements and create strategies for generalizing
these to a variety of environments.
 Invite community team members (i.e., teachers or caregivers)
to attend therapy sessions; therapists to visit the home or
community environment

10. • Successful treatment interventions:
 Invest time in bonding initially to build trust.
 Develop familiar routines and emphasize the beginning and end of
sessions.
 Verbal direction should precede/accompany physical guidance.
 Encourage the individual with RS to guide the session.
 Allow for a delayed response time. Patience is key!
 Praise for all attempts at functional movement and respond to
vocalizations.
 Be aware that an individual’s ability to perform motor tasks will fluctuate
based on time and environment.
 Employ task analysis to break down challenging motor skills into
manageable components.
 Repetition is key.
 Pair positive experiences with practice sessions.
 Be actively aware of how you as a therapist or parent are feeling and
recognize the impact of your nonverbal communication.
 Siblings are natural therapists!
Therapy Approach

11. • Objectives of therapy interventions:
 Monitor and advance joint range of motion; bracing may be beneficial
 Counter the effects of apraxia with repetitive functional practice
activities
 Promote effective balance strategies
 Improve body awareness through deep proprioceptive input
 Promote stability in transitional postures or those which require
midrange control
 Promote functional hand use and provide opportunities for practice
 Support optimal foot position to limit deformity and retain functional
mobility
 Promote trunk strength and postural awareness to limit the
progression of scoliosis
 Promote volitional mobility as a priority
Therapy Approach

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Dyspraxia - Difficulty motor planning new and unfamiliar
activities
Apraxia - Inability to coordinate thoughts and movements
Ideation - Knowing what to do-requires goal directed sequence
of movement
Stereotypical Hand Movements - There are a variety of
stereotypical hand movements that interfere with participation
in activities
Handedness - Know which hand is the dominant hand of the
child to get the best function
Mutation - Correlation between mutation and hand function
Motivation - Know what motivates the child. You can build skills
from this.
Factors Impacting Fine Motor Skills

13. Assessing Hand Stereotypies
Downs J, Dev Neurorehab, 2014; 17:210

14. Assessing Hand Function
Downs J, Dev Neurorehab, 2014; 17:210

15. Algorithm for the Management of Hand Stereotypies
Downs J, Dev Neurorehab, 2014; 17:210

16. Motor Learning Therapy to Improve Hand Function
Downs J, Dev Neurorehab, 2014; 17:210

17. • Get a baseline of function and stereotypical
hand movements before beginning treatment
to make sure your treatment and use of
equipment are truly effective.
• Start with what motivates the child.
Research shows feeding/eating is extremely
motivating to children with RS.
• Use a variety of strategies including
behavioral/learning theory, hand over hand
assistance/guidance, adaptive equipment,
and splints.
Ways to Facilitate Functional Hand Use

18. Goal Example Strategies
• Hope will participate in 50% of the mealtime with use of adaptive
equipment and guided eating strategies in 4/4 sessions
 The goal of guided eating is to improve participation and engagement
of the child during mealtime.
 Guided eating includes verbal and physical prompting by the person
assisting with the meal.
 The child with RS is an active participant in the process.
• Adaptive equipment
 Examples: mother’s third arm to hold drinks; cup with straw; adaptive
utensils (e.g., universal cuff, wrap around spoon/fork); Kinesio tape to
facilitate wrist extension; scoop bowls/plates; suction cup bowls/
plates; curved utensils; built-up handled utensils
 Arm bracing: research shows minor improvements in finger feeding
with placement of an elbow splint on the non dominant arm.
 Restraining decreases stereotypic movements.
 Assistive technology: to help make choices during meals

19. Use of Hand and/or Arm Splints

20. Guided Eating

22. Modifying/Adapting the Task
• Decrease the motor requirements necessary
• Begin by working on maintaining grasp on an object
• Gradually increase the amount of time the child needs to hold the
item

23. Transfer of One Skill to Another Skill
• Limited research on transfer of skills from
feeding to other fine motor tasks
• Best to find one component of the task that
is similar to feeding and work on that part
first
• Example: If the child is able to maintain a
gross grasp on an object, transfer this to
maintaining grasp on a swing.
• Keep handedness in mind.

26. Rett Syndrome: Feeding Concerns
Oddy W, J Pediatr Gastroenterol Nutr, 2007; 45:582

27. Rett Syndrome: Feeding Difficulties
Things to consider:
• Reduced muscle tone can affect head and neck
control
• Breathing disturbances which may interfere with
swallowing ability
• Seizure activity requiring medications which may
affect appetite, increase oral secretions, and cause
sedation
• Possible need for enteral nutrition support via
gastrostomy or nasogastric tube as well as
supplemental formulas to boost calorie
consumption
• Difficulties with growth, hydration and nutrition

28. • Oromotor and oropharyngeal dysfunction
• Sensory deficits
• Reduced tongue mobility
• Difficulty with higher food textures
• One or all phases of swallow may be impacted
• Oral apraxia
• Movement of tongue: rapid, repetitive - can
disrupt or interfere with oral preparation,
transport, transfer of bolus
• Incomplete or nonexistent bolus manipulation
Common Feeding Difficulties

29. Rett Syndrome: Recommendations
• May benefit from an individual treatment plan that
describes food and beverage consistencies and
portion sizes
• Consult with nutrition about how to get the most
calories in the least amount of effort
• Consult on positioning during feeding,
• Use of selected utensils and adaptive equipment
• Consider need for alternative feeding methods.
• Assessment of swallowing function at onset of the
following symptoms- choking, decreased control of
secretions, upper or lower respiratory tract
infections, weight loss

30. Strategies for Prolonged Meal Times (30+ min):
• Offer most advanced texture that matches oral motor
skills at the beginning of the meal
• Make sure foods match oral motor skills
• Offer lower texture foods to get volume and variety of
intake (easier textures should result in shorter meal
times)
• Boost calories of foods offered (work wort your
dietician to sort out how)
• Offer high calorie alternatives to food
Common Feeding Difficulties

31. Strategies for Sensory Deficits:
• Provide a couple of minutes of sensory warm up
(alerting activities) prior to the meal time
• Can change temperature of foods (such as make
colder to provide more input)
• Add high contrast flavors to foods -you can do this
with the addition of dips or spices (ranch, BBQ, honey
mustard, ketchup)
• Can offer very crunchy high flavor meltable solids
(freeze dried strawberries or raspberries), veggie
straws (variety of flavors), Pirates Booty (a variety of
flavors).
Common Feeding Difficulties

32. Common Feeding Difficulties
Strategies for Poor Muscle Tone:
• Consider positioning needs (hips and knees
at 90 degrees and feet fully supported)
• Head neck and trunk in midline
• Head and neck in slight chin tuck position
• Upright and fully supported
• Child should not be fed lying down unless an
infant and is developmentally appropriate

33. Strategies for Difficulty with Higher Food
Textures:
• Modify textures to match oral motor skills
• Start slow and work on quality of skill with the
just rite challenge. Work on skill for 5 minutes
at a time. If child is not at a level to work on
more advanced textures due to oral motor
impairments and risk for choking there is no
pressure to do this.
Common Feeding Difficulties

34. Additional Treatment Strategies
• Work on the actual task of feeding
• Focus on quality not quantity
• A dietitian will help to increase caloric
density of foods consumed to decrease
meal length
Common Feeding Difficulties

35. Mealtime Recommendations
• Have child participate in family meal times
• If g-tube fed, can have tube feeds during family
meal times
• Can pair g tube feedings with oral feedings
• Make sure child is properly positioned
• Limit meal times to 20-30 minutes
• Offer choices during meal time for best
participation

36. • Colorado Therapeutic Horseback Riding
• 11968 Mineral Road Longmont Co
• 303-652-9131
• Safe Splash Swim School
• 4151 E Colfax, Denver, CO 80220
• 303-799-1885 ext. 700
• Sera School Music
• Music Therapy-(866) 611-7558
• Access Gallery
• 909 Santa Fe Drive, Denver CO 80204
• 303-777-0797
Therapeutic Community Activities

37. Downs et al. (2009) Guidelines for Management of Scoliosis in Rett Syndrome Patinets
Based on Expert Consensus and Clinical Evidence. Spine. 34(17) 607-617.
Horsha et al. (2009) Brain Metabolism in Rett Syndrome: Age, Clinical and Genotype
Correlations. Annals of Neurology, 65(1) 90-96.
Larsson, G., Engerstrom, I. (2001) Gross motor ability in Rett syndrome – the power of
expectation, motivation and planning. Brain and Development. 23, S77-S81.
Lotan, M., Isakov, E., & Merrick, J. (2004) Improving functional skills and physical
fitness in children with Rett syndrome. Journal of Intellectual Disability Research
48(8), 730-735.
Lotan, M. (2006) Rett Syndrome. Guidelines for Individual Intervention. The Scientific
World Journal. 6, 1504-1516.
Percy, A. (2008) Rett Syndrome: Recent Research Progress. Journal of Child
Neurology. 23(5) 543-549.
Rossin, L (1997) Effectiveness of therapeutic and surgical intervention in the treatment
of scoliosis in Rett syndrome. Thesis. University of Duquesne, Pittsburg, PA.
Volkmar, F., Cook, E.H., Jr., Pomeroy, J., Realmuto, G., and Tanguay, P. (1999)
Practice parameters of the assessment of children, adolescents, and adults with
autism an dother pervasive developmental disorders. J, Am. Acad. Child Adolesc.
Psychiatry 38(12 Suppl), 32S-54S.
Works Cited

38. Works Cited
Budden S, Meek M, Henighan C. Communication and oral motor function in Rett
syndrome. Developmental Medicine and Child Neurology. (1990) 32(1):51-55.
Carter P., Downs, J., Bebbington, A., Williams, S., Jacoby, P., Kaufmann., Leonard, H.
Stereotypical hand movements in 144 subjects with Rett syndrome from the population-
based Australian database. Movement Disorders. (2009) Vol 00., No. 00.
Downs, J., Bebbington, A., Jacoby, P., Williams, A., Ghosh, S.,Kaufmann, W., Leaonard,H.
Level of purposeful hand function as a marker of clinical severity in Rett syndrome.
Developmental Medicine and Child Neurology. (2010). 1-7.
Piazza C, Anderson C, Fisher W. Teaching self-feeding to patients with Rett syndrome.
Developmental Medicine and Child Neurology. (1993). 35: 991-996.
Qvarfordt I, Engerstrom I, Eliasson A. Guided eating or feeding :three girls with Rett
syndrome. Scandanavian Journal of Occupational Therapy. (2009). 16:33-39.

39. 39
Thank you very
much for joining
us.

40. Intervention Strategies By Stage
• Stage one – “Onset” (6-18 months)
 Characteristics include:
• Delayed progress in developing motor milestones
• Reduction in volitional hand function with possible hand wringing
• Reduced play skills and diminished communication.
 Therapeutic emphasis: Maximize progress, especially regarding transitional skills,
standing and upright mobility. Individuals who attain walking in stage one often retain
the ability for some time.
• Stage two – “The rapid destructive phase” (1-4 years old)
 Characteristics include:
• Loss of some acquired motor milestones
• Stereotypical hand movements fully present
• Possible onset of medical concerns including: seizures, irregular breathing and
spinal asymmetry.
 Therapeutic emphasis: Employ relaxation techniques with gentle handling to support
mobility and gross motor skills. Important to establish training for all possible team
members to improve understanding of RS and strategies to promote function.

41. • Stage three – “Plateau” (2-10 years old)
 Characteristics include:
• Relatively calm period with limited progression of the existing symptoms
• Apraxia is present and interferes with purposeful movement
• Concern for development of contractures and postural deviations (feet and spine)
 Therapeutic emphasis: Reasonable to aim toward building transitional, mobility and
gross motor skills. Implement strategies, including equipment, to limit postural
deviations, promote standing activities and, if possible, walking.
• Stage four – “Late motor deterioration”
 Characteristics include:
• Reduction in mobility
• Weakness with increased muscle tone and rigidity
• Concern for the development of postural deviations and circulatory changes
 Therapeutic emphasis: Provide support for improving range of motion, transfer skills
and positioning (seated and upright as able) as well as provide resources for families
to assist in care and transfers.
Intervention Strategies By Stage