Transcript A Huge Leap Backwards, Then Small Steps Forward:

A Huge Leap Backwards,
Then Small Steps Forward:
Profile of a Rett Syndrome
Multidisciplinary Management Clinic
John Christodoulou
Rett Syndrome Multidisciplinary Management Clinic,
Children’s Hospital at Westmead
Disciplines of Paediatrics & Child Health and Medical Genetics,
University of Sydney, AUSTRALIA
Outline of presentation
• background to the Rett Syndrome (RTT)
Multidisciplinary Management Clinic
• roles and responsibilities of team
members
Profile of RTT Multidisciplinary
Management Clinic
• started in February 2000
• aim was to provide a comprehensive
service to patients with Rett Syndrome
and their families
• close links with the Rett Syndrome
Australian Research Fund
• February 2000 – March 2008
− 98 families have attended the clinic
− 84% have returned for subsequent reviews
− 9 new families seen since August 2007
Profile of the Clinic
Health Professionals
Medical Team
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Clinical geneticist
Genetic counsellor
Dietitian
Physiotherapist
Therapy Team
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Occupational therapist
Speech pathologist
Dentist
Music Therapist
Previously:
Education Specialist
Profile of the Clinic:
Structure
Initial Contact:
Genetic Counsellor
Diagnostic Clinic
Day of clinic:
Staff pre-clinic meeting
Each patient
and her family sees:
Dentist
"Medical" Team
Staff Post-Clinic
meeting
After end of clinic
Individual Team Member
follow up and
report preparation
Collation and
distribution of
report
"Therapy" Team
OCCUPATIONAL THERAPY
Occupational therapy
Role in the Clinic
• General focus
− personal care needs
− equipment
− routine activities
− seating
− wheelchair / pram
− pressure care
− car seats
− positioning throughout day
Occupational therapy
Role in the Clinic
• Rett Syndrome specific focus
− hand stereotypies
− dyspraxia
− How these affect functional hand use
− Options to dampen their influence
 Ways to increase engagement
in activities and functional hand use
− potential for using upper limb skills for
communication and leisure tasks
− Use of switches
− Use of other augmentative devices and technology
Occupational therapy
Role in the Clinic
• Frequently provided
information:
− suggestions for extending
use of switches
− independent Living Centre
− Technical Aid for the
Disabled
− Northcott’s Computer and
Assistive Technology
Services
• Common interventions:
− positioning child or holding
hand / arm to dampen
stereotypies
− wrap-around arm splints,
hand splints (as requested)
and lycra gloves
− bathing equipment
− referral for wheelchair or
seating review
SPEECH PATHOLOGY
Speech Pathology
Speech Pathologist’s Role
• Assess
− feeding
− communication
• Communication intentions
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requesting (objects, actions)
rejecting/protesting
social conventions
attention to self
comment
choice making
comprehension - yes/no, requests
Speech Pathology
How do the girls communicate?
• eye gaze
• reaching
• body movements - turning away, clamping
mouth
• vocal noises
• smiling, crying
• hyperventilating
• self injurious behaviour
DIETETICS
Dietetics
Dietitian’s Role in Rett Syndrome
Assessment of
• Growth and weight
gain
height can be difficult
to measure due to
scoliosis, poor
ambulatory ability and
contractures
• Food and fluid
intake
Nutritional Support
• Recommendations
on types of food and
fluid offered
Dietetics
Girls with Rett Syndrome are
often small and thin…
• …but often have good appetite and a well
balanced diet.
• periods of poor food and fluid intake are
common but usually resolve spontaneously
Diagnosis of poor nutritional status needs to be
based on weight history, weight change, diet
assessment and general health of the girl
• some girls are overweight for their height
Dietetics
Dietitian’s Role in Rett Syndrome
Assessment of:
Nutritional support:
Food textures and
feeding skills
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modification of
texture if needed
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advice on sources of
particular nutrients eg
calcium
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increased fibre intake,
although medical
management often
necessary
Nutrient intake
Constipation
DENTISTRY
Dentistry
Frequent dental findings:
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digit/hand sucking or biting
bruxing
mouth breathing
sialhorroea
tongue thrusting
Dentistry
Anterior open bite:
Dentistry
Bruxing/attrition
Dentistry
Oral motor function appliance
• Roll device
Dentistry
Oral motor function appliance:
• Bead
PHYSIOTHERAPY
Physiotherapy
Physiotherapy and Rett Clinic
• Goals: maintain maximal mobility, joint
and muscle ranges
− assessment for each child
− communication with the parents about current
physiotherapy program
− recommendations for any changes in therapy eg
splints, other equipment, activities, positioning
− liaise with local therapy services
− follow up appointment for specialised treatment
eg serial casting for contractures
Physiotherapy
Physiotherapy Assessment
and typical findings
Muscle tone and joint range
• minimal to moderate
increased tone in limbs
• decreased tone in trunk
• secondary shortening of
muscles
• valgoid feet, short calf
muscles, tight hamstrings
and hip flexors
• scoliosis 50%
Mobility and gross motor
• some walk with stiff legs,
apraxic gait
• more walk with assistance
• many become non walkers
• poor balance in all positions
• perseverating movements eg
rocking
• gross motor restricted by
cognitive ability
Physiotherapy
Physiotherapy Interventions
• keep interventions realistic for
girls and family whilst maximising
outcome
• walking aids
• standing program
• stretching and positioning
• serial casting for shortened
muscles
• splints, often ankle foot orthosis
• advice on appropriate activities
for independently mobile girls
Current Clinic Members
• Dr Carolyn Ellaway
• Zoe Horton
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Sue Thompson
Jeanette Cowell
Dr Emma Jay
Joannna Newsom
Robyn Kirkland
Maria Lopes
- Head of Clinic, Medical
Geneticist
- Genetic Counsellor, Clinic
Coordinator
- Paediatric Dietician
- Speech Therapist
- Dentist
- Physiotherapist
- Occupational Therapist
- Music Therapist
In summary
• RTT syndrome patients have many complex
needs
• a multidisciplinary approach, with input from
doctors, nurses, and allied health
professionals is essential
Acknowledgments
• the families of RTT individuals
• Rett Syndrome Australian Research Fund