Role of Physiotherapy in Role of Physiotherapy in Rett SyndromeRett Syndrome

Jackie HarrisJackie Harris

DevelopmentDevelopment

Normal early development? (up to 6 Normal early development? (up to 6 –– 18 18 months of age)months of age)

Evidence to show that early development Evidence to show that early development is not always normal is not always normal Burford, Kerr & Macleod 2002 & Einspieler et al Burford, Kerr & Macleod 2002 & Einspieler et al 20052005

DevelopmentDevelopment

Retrospective video analysis has shown Retrospective video analysis has shown the Rett baby is usually placid, can have the Rett baby is usually placid, can have unusual muscle tone, posture and unusual muscle tone, posture and movement, and displays repetitive movement, and displays repetitive movements of the upper limbmovements of the upper limb

Implications for earlier detection/diagnosisImplications for earlier detection/diagnosis

DevelopmentDevelopmentDevelopment arrests, onset between 6 Development arrests, onset between 6 ––18 months of age18 months of age

Development then regresses, between 1 Development then regresses, between 1 ––4 years of age (if they have achieved 4 years of age (if they have achieved walking, they may stop doing this) walking, they may stop doing this) Charman et al 2002Charman et al 2002

DevelopmentDevelopment

Condition stabilizes at about 4 Condition stabilizes at about 4 –– 5 years of 5 years of age, some kids don’t walk till about 4 age, some kids don’t walk till about 4 years of age years of age Kerr & Ravine 2003Kerr & Ravine 2003

Many girls become wheelchair bound with Many girls become wheelchair bound with ageage

GaitGait

AtaxicAtaxicWide BOSWide BOSSmall step lengthSmall step lengthTruncal ataxiaTruncal ataxiaSide to side rockingSide to side rockingGeneralised slow movementsGeneralised slow movements

GaitGait

Gait disturbance may not be due to ataxia Gait disturbance may not be due to ataxia but a failure of interbut a failure of inter--limb colimb co--ordination (as ordination (as seen in crawling too)seen in crawling too)Rocking of the trunk from side to side may Rocking of the trunk from side to side may not be due to truncal ataxia but a not be due to truncal ataxia but a spontaneous or voluntary movement to spontaneous or voluntary movement to induce a step forwardinduce a step forward

GaitGait

Improvement of locomotive movement of Improvement of locomotive movement of the leg by tipthe leg by tip--toetoe--walking explained as walking explained as provocation of the intraspinal circuit in the provocation of the intraspinal circuit in the spinal cord. spinal cord. Lack of tonic innervation from the Lack of tonic innervation from the supraspinal segment to the supraspinal segment to the lumbarsacrallumbarsacralstepping generator is the cause of failure stepping generator is the cause of failure of locomotion. of locomotion. SegawaSegawa 20012001

Clinical FeaturesClinical Features

Decline in gross motor function & standing Decline in gross motor function & standing ambulationambulationLoss of transitional movementsLoss of transitional movementsPoor postural controlPoor postural controlDystoniaDystoniaReduced purposeful hand use/ jerky unReduced purposeful hand use/ jerky un--coordinated movementcoordinated movementGeneralised slowness of movementsGeneralised slowness of movements

Other ComplicationsOther Complications

Joint/muscle contracturesJoint/muscle contracturesMuscle wastingMuscle wastingScoliosisScoliosis

Associated with immobility & inability to climb Associated with immobility & inability to climb stairsstairsCan affect posture, mobility, digestion & Can affect posture, mobility, digestion & respiratory function respiratory function Kerr et al 2003Kerr et al 2003

Other ComplicationsOther Complications

OsteoporosisOsteoporosisSedentary lifestyle diseasesSedentary lifestyle diseasesConstipation (can be positively affected by Constipation (can be positively affected by physical activity)physical activity)

AssessmentAssessment

Joint ROM & muscle lengthJoint ROM & muscle lengthMuscle toneMuscle toneFunctional abilitiesFunctional abilitiesTransitional movementsTransitional movementsGAIT/mobilityGAIT/mobilityPosturePostureSeatingSeating

TreatmentTreatment

Prevent deformity such as joint & muscle Prevent deformity such as joint & muscle contractures, foot deformities & scoliosis:contractures, foot deformities & scoliosis:

Maintain a good foot positionMaintain a good foot positionAFO’sAFO’s & splints& splintsSerial castingSerial castingPostioningPostioning –– prone lying, long sittingprone lying, long sittingStanding frameStanding frameUpright position, seatingUpright position, seating

TreatmentTreatment

Prevent deformity such as joint & muscle Prevent deformity such as joint & muscle contractures, foot deformities & scoliosis:contractures, foot deformities & scoliosis:

Care with handling Care with handling –– lifting from shoulders lifting from shoulders with hip flexion contractures increases lumbar with hip flexion contractures increases lumbar lordosis lordosis Kerr et al 2003Kerr et al 2003Brace treatment of scoliosis can buy time, but Brace treatment of scoliosis can buy time, but becomes less affective & more restrictive as becomes less affective & more restrictive as scoliosis worsens scoliosis worsens Kerr et al 2003Kerr et al 2003

TreatmentTreatment

Maintain/improve walking abilityMaintain/improve walking ability

Daily walking programDaily walking programUse of standing and walking framesUse of standing and walking framesUse of Use of AFO’sAFO’s, wrap, wrap--aroundsaroundsWalking can be retrained after it has been lostWalking can be retrained after it has been lostLarsson & Larsson & EngerstromEngerstrom 20012001

TreatmentTreatment

Maintain/improve transitional movementsMaintain/improve transitional movementsSTSSTSFloor to stand / stand to floorFloor to stand / stand to floorIn/out of bedIn/out of bedSitting on floor to crawlSitting on floor to crawlCan be retrained if lost Can be retrained if lost Larsson & Larsson & EngerstromEngerstrom 20012001

TreatmentTreatment

Improve fitnessImprove fitnessDaily physical fitness (i.e. Daily physical fitness (i.e. –– treadmill) treadmill) improves fitness & functional ability (kneeimproves fitness & functional ability (knee--stand, get up, walk, stairs/slopes) (for girls stand, get up, walk, stairs/slopes) (for girls with independent mobility) with independent mobility) LotanLotan, , IsakovIsakov & Merrick 2004& Merrick 2004

Increasing fitness can prevent the sedentary Increasing fitness can prevent the sedentary lifestyle diseaseslifestyle diseasesWalking, swimming, riding, stairsWalking, swimming, riding, stairs

TreatmentTreatment

HydrotherapyHydrotherapyGait trainingGait trainingFitnessFitnessRecreationRecreationStretchesStretchesImprove muscle powerImprove muscle powerCore stabilityCore stability

TreatmentTreatment

Good postGood post--operative followoperative follow--up:up:Plan earlyPlan earlyEarly mobilisationEarly mobilisationCasting/splintingCasting/splintingRetrainingRetraining

TreatmentTreatment

Find out what motivates them Find out what motivates them PeoplePeopleToysToysActivities, places to visitActivities, places to visitFoodFoodEtc.Etc.

SummarySummary

Keep them as active and mobile as Keep them as active and mobile as possible!possible!

ReferencesReferencesMalhotra, Kumar, Gupta. Rett’s syndrome Malhotra, Kumar, Gupta. Rett’s syndrome –– a neurodevelopmental a neurodevelopmental disorder: report of two cases. Neurol India 2002; 50:330disorder: report of two cases. Neurol India 2002; 50:330--33Lotan, Isakov, Merrick. Improving functional skills and physicalLotan, Isakov, Merrick. Improving functional skills and physicalfitness in children with rett syndrome. J Intellect Disab Researfitness in children with rett syndrome. J Intellect Disab Research ch 2004; 48: 7302004; 48: 730--735735Larsson, Engerstrom. Gross motor ability in Rett syndrome Larsson, Engerstrom. Gross motor ability in Rett syndrome –– the the power of expectation, motivation and planning. Brain & Devel 200power of expectation, motivation and planning. Brain & Devel 2001; 1; S77 S77 –– S81S81EinspielerEinspieler, Christa, Kerr, Alison, , Christa, Kerr, Alison, PrechtlPrechtl, Heinz. Is the early , Heinz. Is the early development of girls with development of girls with rettrett disorder really normal? Ped Research disorder really normal? Ped Research 2005; 57:6962005; 57:696--700700Burford, Kerr, Macleod. Nurse recognition of early deviation in Burford, Kerr, Macleod. Nurse recognition of early deviation in development in home videos of infants with development in home videos of infants with RettRett disorder. J Intellect disorder. J Intellect DisabDisab Research 2003; 47:588Research 2003; 47:588--596596Haas, Dixon, Haas, Dixon, SartorisSartoris, Hennessy. Osteopenia in , Hennessy. Osteopenia in RettRett syndrome. The syndrome. The J J PediatricsPediatrics 1997; 131: 7711997; 131: 771--774774

ReferencesReferencesCharman, Cass, Owen, Wigram, Slonims, Weeks, Wisbeach, Reilly. Charman, Cass, Owen, Wigram, Slonims, Weeks, Wisbeach, Reilly. Regression in individuals with Rett syndrome. Brain & Devel 2002Regression in individuals with Rett syndrome. Brain & Devel 2002; ; 24:28124:281--283283Kerr, Webb, Prescott, Milne. Results of surgery for scoliosis inKerr, Webb, Prescott, Milne. Results of surgery for scoliosis in Rett Rett syndrome. J Child Neurol 2003; 18:703syndrome. J Child Neurol 2003; 18:703--708708Segawa. Pathophysiology of Rett syndrome from the stand point ofSegawa. Pathophysiology of Rett syndrome from the stand point ofclinical characteristics. Brain & Devel 2001; 23:S94clinical characteristics. Brain & Devel 2001; 23:S94--S98S98Pozzi, Rosemberg. Rett syndrome: clinical and epidemiological Pozzi, Rosemberg. Rett syndrome: clinical and epidemiological aspects in a Brazilian institution. Arq. Neuroaspects in a Brazilian institution. Arq. Neuro--Psiquiatr 2003; 61Psiquiatr 2003; 61Kerr, Ravine. Review article: Breaking new ground with Kerr, Ravine. Review article: Breaking new ground with RettRettsyndrome. J Intellect syndrome. J Intellect DisabDisab Research 2003; 47:580Research 2003; 47:580--587587SarojiniSarojini, , BuddenBudden, , GunnessGunness. Possible mechanisms of osteopenia in . Possible mechanisms of osteopenia in RettRett syndrome: Bone syndrome: Bone histomorphometrichistomorphometric studies. J Child studies. J Child NeurolNeurol2003; 18:6982003; 18:698--702702