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A Huge Leap Backwards, Then Small Steps Forward: Profile of a Rett Syndrome Multidisciplinary Management Clinic John Christodoulou Rett Syndrome Multidisciplinary.

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Presentation on theme: "A Huge Leap Backwards, Then Small Steps Forward: Profile of a Rett Syndrome Multidisciplinary Management Clinic John Christodoulou Rett Syndrome Multidisciplinary."— Presentation transcript:

1 A Huge Leap Backwards, Then Small Steps Forward: Profile of a Rett Syndrome Multidisciplinary Management Clinic John Christodoulou Rett Syndrome Multidisciplinary Management Clinic, Childrens Hospital at Westmead Disciplines of Paediatrics & Child Health and Medical Genetics, University of Sydney, AUSTRALIA

2 Outline of presentation background to the Rett Syndrome (RTT) Multidisciplinary Management Clinicbackground to the Rett Syndrome (RTT) Multidisciplinary Management Clinic roles and responsibilities of team membersroles and responsibilities of team members

3 Profile of RTT Multidisciplinary Management Clinic started in February 2000started in February 2000 aim was to provide a comprehensive service to patients with Rett Syndrome and their familiesaim was to provide a comprehensive service to patients with Rett Syndrome and their families close links with the Rett Syndrome Australian Research Fundclose links with the Rett Syndrome Australian Research Fund February 2000 – March 2008February 2000 – March families have attended the clinic98 families have attended the clinic 84% have returned for subsequent reviews84% have returned for subsequent reviews 9 new families seen since August new families seen since August 2007

4 Profile of the Clinic Health Professionals Clinical geneticistClinical geneticist Genetic counsellorGenetic counsellor DietitianDietitian PhysiotherapistPhysiotherapist Occupational therapistOccupational therapist Speech pathologistSpeech pathologist DentistDentist Music TherapistMusic Therapist Previously: Education Specialist Medical Team Therapy Team

5 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

6 OCCUPATIONAL THERAPY

7 Occupational therapy Role in the Clinic General focusGeneral focus personal care needspersonal care needs equipmentequipment routine activitiesroutine activities seatingseating wheelchair / pramwheelchair / pram pressure carepressure care car seatscar seats positioning throughout daypositioning throughout day

8 Occupational therapy Role in the Clinic Rett Syndrome specific focusRett Syndrome specific focus hand stereotypieshand stereotypies dyspraxiadyspraxia How these affect functional hand useHow these affect functional hand use Options to dampen their influenceOptions to dampen their influence Ways to increase engagement Ways to increase engagement in activities and functional hand use in activities and functional hand use potential for using upper limb skills for communication and leisure taskspotential for using upper limb skills for communication and leisure tasks Use of switchesUse of switches Use of other augmentative devices and technologyUse of other augmentative devices and technology

9 Occupational therapy Role in the Clinic Frequently provided information:Frequently provided information: suggestions for extending use of switchessuggestions for extending use of switches independent Living Centreindependent Living Centre Technical Aid for the DisabledTechnical Aid for the Disabled Northcotts Computer and Assistive Technology ServicesNorthcotts Computer and Assistive Technology Services Common interventions: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

10 SPEECH PATHOLOGY

11 Speech Pathology Speech Pathologists Role AssessAssess feedingfeeding communicationcommunication Communication intentionsCommunication intentions requesting (objects, actions)requesting (objects, actions) rejecting/protestingrejecting/protesting social conventionssocial conventions attention to selfattention to self commentcomment choice makingchoice making comprehension - yes/no, requestscomprehension - yes/no, requests

12 Speech Pathology How do the girls communicate? eye gazeeye gaze reachingreaching body movements - turning away, clamping mouthbody movements - turning away, clamping mouth vocal noisesvocal noises smiling, cryingsmiling, crying hyperventilatinghyperventilating self injurious behaviourself injurious behaviour

13 DIETETICS

14 Dietetics Dietitians Role in Rett Syndrome Assessment of Growth and weight gain height can be difficult to measure due to scoliosis, poor ambulatory ability and contracturesGrowth and weight gain height can be difficult to measure due to scoliosis, poor ambulatory ability and contractures Food and fluid intakeFood and fluid intake Nutritional Support Recommendations on types of food and fluid offeredRecommendations on types of food and fluid offered

15 Dietetics Girls with Rett Syndrome are often small and thin… …but often have good appetite and a well balanced diet.…but often have good appetite and a well balanced diet. periods of poor food and fluid intake are common but usually resolve spontaneouslyperiods 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 heightsome girls are overweight for their height

16 Dietetics Dietitians Role in Rett Syndrome Assessment of: Nutritional support: Food textures and feeding skills modification of texture if needed Nutrient intake advice on sources of particular nutrients eg calcium Constipation increased fibre intake, although medical management often necessary

17 DENTISTRY

18 Dentistry Frequent dental findings: digit/hand sucking or bitingdigit/hand sucking or biting bruxingbruxing mouth breathingmouth breathing sialhorroeasialhorroea tongue thrustingtongue thrusting

19 Dentistry Anterior open bite:

20 Dentistry Bruxing/attrition

21 Dentistry Oral motor function appliance Roll deviceRoll device

22 Dentistry Oral motor function appliance: BeadBead

23 PHYSIOTHERAPY

24 Physiotherapy Physiotherapy and Rett Clinic Goals: maintain maximal mobility, joint and muscle rangesGoals: maintain maximal mobility, joint and muscle ranges assessment for each childassessment for each child communication with the parents about current physiotherapy programcommunication with the parents about current physiotherapy program recommendations for any changes in therapy eg splints, other equipment, activities, positioningrecommendations for any changes in therapy eg splints, other equipment, activities, positioning liaise with local therapy servicesliaise with local therapy services follow up appointment for specialised treatment eg serial casting for contracturesfollow up appointment for specialised treatment eg serial casting for contractures

25 Physiotherapy Physiotherapy Assessment and typical findings Muscle tone and joint range minimal to moderate increased tone in limbsminimal to moderate increased tone in limbs decreased tone in trunkdecreased tone in trunk secondary shortening of musclessecondary shortening of muscles valgoid feet, short calf muscles, tight hamstrings and hip flexorsvalgoid feet, short calf muscles, tight hamstrings and hip flexors scoliosis 50%scoliosis 50% Mobility and gross motor some walk with stiff legs, apraxic gaitsome walk with stiff legs, apraxic gait more walk with assistancemore walk with assistance many become non walkersmany become non walkers poor balance in all positionspoor balance in all positions perseverating movements eg rockingperseverating movements eg rocking gross motor restricted by cognitive abilitygross motor restricted by cognitive ability

26 Physiotherapy Physiotherapy Interventions keep interventions realistic for girls and family whilst maximising outcomekeep interventions realistic for girls and family whilst maximising outcome walking aidswalking aids standing programstanding program stretching and positioningstretching and positioning serial casting for shortened musclesserial casting for shortened muscles splints, often ankle foot orthosissplints, often ankle foot orthosis advice on appropriate activities for independently mobile girlsadvice on appropriate activities for independently mobile girls

27 Current Clinic Members Dr Carolyn Ellaway- Head of Clinic, Medical GeneticistDr Carolyn Ellaway- Head of Clinic, Medical Geneticist Zoe Horton- Genetic Counsellor, Clinic CoordinatorZoe Horton- Genetic Counsellor, Clinic Coordinator Sue Thompson- Paediatric DieticianSue Thompson- Paediatric Dietician Jeanette Cowell- Speech TherapistJeanette Cowell- Speech Therapist Dr Emma Jay- DentistDr Emma Jay- Dentist Joannna Newsom- PhysiotherapistJoannna Newsom- Physiotherapist Robyn Kirkland- Occupational TherapistRobyn Kirkland- Occupational Therapist Maria Lopes- Music TherapistMaria Lopes- Music Therapist

28 In summary RTT syndrome patients have many complex needsRTT syndrome patients have many complex needs a multidisciplinary approach, with input from doctors, nurses, and allied health professionals is essentiala multidisciplinary approach, with input from doctors, nurses, and allied health professionals is essential

29 Acknowledgments the families of RTT individualsthe families of RTT individuals Rett Syndrome Australian Research FundRett Syndrome Australian Research Fund


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