A Huge Leap Backwards, Then Small Steps Forward:

1. 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

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

3. 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

4. Clinical geneticist Genetic counsellor Dietitian Physiotherapist Occupational therapist Speech pathologist Dentist Music Therapist Profile of the ClinicHealth Professionals Medical Team Therapy Team Previously: Education Specialist

5. Profile of the Clinic:Structure

6. OCCUPATIONAL THERAPY

7. Occupational therapyRole in the Clinic • General focus • personal care needs • equipment • routine activities • seating • wheelchair / pram • pressure care • car seats • positioning throughout day

8. Occupational therapyRole 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

9. 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 Occupational therapyRole in the Clinic

10. SPEECH PATHOLOGY

11. Speech Pathology Speech Pathologist’s Role • Assess • feeding • communication • Communication intentions • requesting (objects, actions) • rejecting/protesting • social conventions • attention to self • comment • choice making • comprehension - yes/no, requests

12. Speech Pathology How do the girls communicate? • eye gaze • reaching • body movements - turning away, clamping mouth • vocal noises • smiling, crying • hyperventilating • self injurious behaviour

13. DIETETICS

14. Assessment of Growth and weight gainheight 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 DieteticsDietitian’s Role in Rett Syndrome

15. DieteticsGirls 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

16. DieteticsDietitian’s Role in Rett Syndrome

17. DENTISTRY

18. DentistryFrequent dental findings: • digit/hand sucking or biting • bruxing • mouth breathing • sialhorroea • tongue thrusting

19. DentistryAnterior open bite:

20. DentistryBruxing/attrition

21. DentistryOral motor function appliance • Roll device

22. DentistryOral motor function appliance: • Bead

23. PHYSIOTHERAPY

24. PhysiotherapyPhysiotherapy 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

25. 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 PhysiotherapyPhysiotherapy Assessment and typical findings

26. PhysiotherapyPhysiotherapy 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

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

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

29. Acknowledgments • the families of RTT individuals • Rett Syndrome Australian Research Fund