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A Huge Leap Backwards, A Huge Leap Backwards, Then Small Steps Forward:Then Small Steps Forward:

Profile of a Rett Syndrome Profile of a Rett Syndrome Multidisciplinary Management ClinicMultidisciplinary Management Clinic

John ChristodoulouJohn Christodoulou

Rett Syndrome Multidisciplinary Management Clinic, Rett Syndrome Multidisciplinary Management Clinic,

Children’s Hospital at WestmeadChildren’s Hospital at Westmead

Disciplines of Paediatrics & Child Health and Medical Genetics, Disciplines of Paediatrics & Child Health and Medical Genetics, University of Sydney, AUSTRALIAUniversity of Sydney, AUSTRALIA

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Outline of presentationOutline of presentation

• background to the Rett Syndrome (RTT) background to the Rett Syndrome (RTT) Multidisciplinary Management ClinicMultidisciplinary Management Clinic

• roles and responsibilities of team roles and responsibilities of team membersmembers

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Profile of RTT Multidisciplinary Profile of RTT Multidisciplinary Management ClinicManagement Clinic

• started in February 2000started in February 2000• aim was to provide a comprehensive aim was to provide a comprehensive

service to patients with Rett Syndrome service to patients with Rett Syndrome and their familiesand their families

• close links with the Rett Syndrome close links with the Rett Syndrome Australian Research FundAustralian Research Fund

• February 2000 – February 2000 – March 2008March 2008− 98 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 20079 new families seen since August 2007

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Profile of the ClinicProfile of the Clinic

Health ProfessionalsHealth Professionals

• Clinical geneticistClinical geneticist• Genetic counsellorGenetic counsellor• DietitianDietitian• PhysiotherapistPhysiotherapist

• Occupational therapistOccupational therapist• Speech pathologistSpeech pathologist• DentistDentist• Music TherapistMusic Therapist

Previously: Previously:

Education SpecialistEducation Specialist

Medical TeamMedical Team Therapy TeamTherapy Team

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Profile of the ClinicProfile of the Clinic::

StructureStructureInitial Contact:

Genetic CounsellorDiagnostic Clinic

Day of clinic:Staff pre-clinic meeting

Each patientand her family sees:

Dentist "Medical" Team "Therapy" Team

Staff Post-Clinicmeeting

After end of clinicIndividual Team Member

follow up andreport preparation

Collation anddistribution of

report

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OCCUPATIONAL THERAPYOCCUPATIONAL THERAPY

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OOccupational therapyccupational therapy

Role in the ClinicRole in the Clinic

• General focusGeneral focus− personal care needspersonal care needs

− equipmentequipment− routine activities routine activities

− seatingseating− wheelchair / pramwheelchair / pram− pressure carepressure care− car seatscar seats− positioning throughout daypositioning throughout day

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OOccupational therapyccupational therapy

Role in the ClinicRole 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 usein activities and functional hand use

− potential for using upper limb skills for potential for using upper limb skills for communication and leisure taskscommunication and leisure tasks

− Use of switchesUse of switches− Use of other augmentative devices and technologyUse of other augmentative devices and technology

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OOccupational therapyccupational therapy

Role in the ClinicRole in the Clinic

• Frequently provided Frequently provided information:information:− suggestions for extending suggestions for extending

use of switchesuse of switches− independent Living Centreindependent Living Centre− Technical Aid for the Technical Aid for the

DisabledDisabled− Northcott’s Computer and Northcott’s Computer and

Assistive Technology Assistive Technology ServicesServices

• Common interventions:Common interventions:− positioning child or holding positioning child or holding

hand / arm to dampen hand / arm to dampen stereotypiesstereotypies

− wrap-around arm splints, wrap-around arm splints, hand splints (as requested) hand splints (as requested) and lycra gloves and lycra gloves

− bathing equipmentbathing equipment− referral for wheelchair or referral for wheelchair or

seating reviewseating review

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SPEECH PATHOLOGYSPEECH PATHOLOGY

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Speech Pathology Speech Pathology

Speech Pathologist’s RoleSpeech Pathologist’s 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

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Speech Pathology Speech Pathology

How do the girls communicate?How do the girls communicate?

• eeye gazeye gaze• reachingreaching• body movements - turning away, clamping body movements - turning away, clamping

mouthmouth• vocal noisesvocal noises• smiling, cryingsmiling, crying• hyperventilatinghyperventilating• self injurious behaviourself injurious behaviour

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DIETETICSDIETETICS

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DieteticsDietetics

Dietitian’s Role in Rett SyndromeDietitian’s Role in Rett Syndrome

Assessment ofAssessment of • Growth and weight Growth and weight

gaingainheight can be difficult height can be difficult to measure due to to measure due to scoliosis, poor scoliosis, poor ambulatory ability and ambulatory ability and contracturescontractures

• Food and fluid Food and fluid intakeintake

Nutritional SupportNutritional Support• Recommendations Recommendations

on types of food and on types of food and fluid offeredfluid offered

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DieteticsDietetics

Girls with Rett Syndrome are Girls with Rett Syndrome are often small and thin…often small and thin…

• ……but often have good appetite and a well but often have good appetite and a well balanced diet.balanced diet.

• periods of poor food and fluid intake are periods of poor food and fluid intake are common but usually resolve spontaneouslycommon but usually resolve spontaneously

Diagnosis of poor nutritional status needs to be Diagnosis of poor nutritional status needs to be based on weight history, weight change, diet based on weight history, weight change, diet assessment and general health of the girlassessment and general health of the girl

• some girls are overweight for their heightsome girls are overweight for their height

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DieteticsDietetics

Dietitian’s Role in Rett SyndromeDietitian’s Role in Rett Syndrome

Assessment of:Assessment of: Nutritional support:Nutritional support:

Food textures and Food textures and

feeding skillsfeeding skills modification of texture modification of texture

if neededif needed

Nutrient intakeNutrient intake advice on sources of advice on sources of

particular nutrients eg particular nutrients eg calciumcalcium

ConstipationConstipation increased fibre intake, increased fibre intake,

although medical although medical management often management often

necessarynecessary

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DENTISTRYDENTISTRY

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DentistryDentistry

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

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DentistryDentistry

Anterior open bite:Anterior open bite:

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DentistryDentistry

Bruxing/attritionBruxing/attrition

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DentistryDentistry

Oral motor function applianceOral motor function appliance

• Roll deviceRoll device

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DentistryDentistry

Oral motor function appliance:Oral motor function appliance:

• BeadBead

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PHYSIOTHERAPYPHYSIOTHERAPY

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PhysiotherapyPhysiotherapy

Physiotherapy and Rett ClinicPhysiotherapy and Rett Clinic

• Goals: maintain maximal mobility, joint Goals: maintain maximal mobility, joint and muscle rangesand muscle ranges− assessment for each childassessment for each child− communication with the parents about current communication with the parents about current

physiophysiotherapytherapy program program− recommendations for any changes in therapy eg recommendations for any changes in therapy eg

splints, other equipment, activities, positioningsplints, other equipment, activities, positioning− liaise with local therapy services liaise with local therapy services − follow up appfollow up appointmentointment for specialised treatment for specialised treatment

eg serial casting for contractureseg serial casting for contractures

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PhysiotherapyPhysiotherapy Physiotherapy Assessment Physiotherapy Assessment

and typical findingsand typical findings

Muscle tone and joint rangeMuscle tone and joint range• minimal to moderate minimal to moderate

increased tone in limbsincreased tone in limbs• decreased tone in trunkdecreased tone in trunk• secondary shortening of secondary shortening of

musclesmuscles• valgoid feet, short calf valgoid feet, short calf

muscles, tight hamstrings muscles, tight hamstrings and hip flexorsand hip flexors

• scoliosis 50% scoliosis 50%

Mobility and gross motorMobility and gross motor• some walk with stiff legs, some walk with stiff legs,

apraxic gaitapraxic gait• more walk with assistancemore walk with assistance• many become non walkers many become non walkers • poor balance in all positionspoor balance in all positions• perseverating movements eg perseverating movements eg

rockingrocking• gross motor restricted by gross motor restricted by

cognitive abilitycognitive ability

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PhysiotherapyPhysiotherapy Physiotherapy InterventionsPhysiotherapy Interventions

• keep interventions realistic for keep interventions realistic for girls and family whilst maximising girls and family whilst maximising outcomeoutcome

• walking aidswalking aids• standing programstanding program• stretching and positioningstretching and positioning• serial casting for shortened serial casting for shortened

musclesmuscles• splints, often ankle foot orthosissplints, often ankle foot orthosis• advice on appropriate activities advice on appropriate activities

for independently mobile girlsfor independently mobile girls

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Current Clinic MembersCurrent Clinic Members

• Dr Carolyn EllawayDr Carolyn Ellaway - Head of Clinic, Medical - Head of Clinic, Medical GeneticistGeneticist

• Zoe HortonZoe Horton - Genetic Counsellor, Clinic - Genetic Counsellor, Clinic CoordinatorCoordinator

• Sue ThompsonSue Thompson - Paediatric Dietician- Paediatric Dietician• Jeanette CowellJeanette Cowell - Speech Therapist- Speech Therapist• Dr Emma JayDr Emma Jay - Dentist- Dentist• Joannna NewsomJoannna Newsom - Physiotherapist- Physiotherapist• Robyn KirklandRobyn Kirkland - Occupational Therapist- Occupational Therapist• Maria LopesMaria Lopes - Music Therapist- Music Therapist

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In summaryIn summary

• RTT syndrome patients have many complex RTT syndrome patients have many complex needsneeds

• a multidisciplinary approach, with input from a multidisciplinary approach, with input from doctors, nurses, and allied health doctors, nurses, and allied health professionals is essentialprofessionals is essential

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AcknowledgmentsAcknowledgments

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