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Epilepsy and Movement Disorders in Rett Syndrome
Daniel E Lumsden
Consultant Paediatric Neurologist
Honorary Clinical Senior Lecturer
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What do we mean when we talk about “Epilepsy”?
What do we mean when we talk about “Movement Disorders”?
Why is this important for Rett Syndrome?
Outline
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Breathing
Disturbances
Epilepsy
Movement
Disorder
Emotion/
Anxiety
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Epilepsy
Movement
Disorder
Different Abnormal
MovementsDifferent Causes
Different
Treatments
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Epilepsy
“A Paroxysmal
discharge of cerebral
neurones sufficient to
cause a
subjective/objective
change in behaviour
(Stephenson 1990)”
A tendency to have
unprovoked seizures
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‘..his neck turns left, his hands and feet are tense
and his eyes wide open, and from his mouth
froth is flowing without having any
consciousness”
Mesopotamian description
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Epilepsy is a
problem with the
surface of the
brain (cortex)
Movement disorders
are problems with the
deeper brain structure
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Epilepsy in Rett Syndrome
Rett Syndrome Natural History study (2006 to 2015)
1205 participants (922 typical RS)
Point prevalence of active seizures 30-44%
Life time risk estimated almost 90%
Risk of epilepsy related to more severe phenotype rather then MECP2
genotype
Seizure freedom was seen in a small number with history of epilepsy
12% of ”seizures” described by parent not seizures
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Tarquinio et al 2017
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Tarquinio et al 2017
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Tarquinio et al 2017
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There is not one type of seizure or Type of Epilepsy Which is “typical”
for RS
Children and Young People with RS can experience pretty much any
seizure type
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Treatment of Epilepsy in RS
Guided by the seizure type, EEG and other symptoms
No RS specific treatments
No RCT in RS
Commonly used AED:
Sodium valproate, lamotrigine, levetiracetam, topirimate,
carbamazepine,
Caution with benzodiazepines and phenobarbitone due to sedative
effect
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Movement
Disorder
Clinical syndromes with either
an excess of movement or a
paucity of voluntary and
involuntary movements,
unrelated to weakness or
spasticity
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Hyperkinetic Movement Disorders
(HMD) in Children
Dystonia Chorea Myoclonus Tics
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What do we know about Movement Disorders in Rett
Syndrome
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Fitzgerald et al 1990
Movement Disorder Number of Cases
Stereotypy 32/32 (100%)
Bruxism 31/32 (97%)
Oculogyric Crisis 20/32 (63%)
Dystonia 19/32 (59%)
Scoliosis 16/32 (50%)
Myoclonus 11/32 (34%)
Athetosis 4/32 (12.5%)
Hypomimia 20/32 (63%)
Rigidity 14/32 (44%)
Hypokinesia 13/32 (41%)
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Data from Temudo et al
<60 months post-regression >60 months post-regression
Movement
Problem
Missence Truncating Missence Truncating
Stereotypies 100 100 100 100
Dystonia 22.2 50 58.8 95
Rigidity 22.2 64.3 41.2 55
Tremor 55.6 42.9 47.1 50
Ataxia 44.2 42.9 47.1 15.0
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Hand Stereotypies in Rett Syndrome
Repetitive, simple movements that can
be voluntarily suppressed
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©2007 American Academy of Neurology. Published by LWW_American Academy of Neurology. 2
Temudo et L
2007
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Do Hand Stereotypies vary with and without MECP2 mutations?
Temudo et al 2007
83 patients with Rett Syndrome (53 with MECP2 mutations)
No difference in midline stereotypies between groups
Patients with MECP2 mutations more varied HS
Hair pulling HS more common with MECP2 mutation
Number of stereotypies seemed to decrease with age
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Hand Stereotypies in the Australian Database
Carter et al 2009
143 cases
60% midline wringing
Median 2 stereotypies, decreased with age
Clapping and mouthing more prevalent < 8 years
Wringing more prevalent > 19 years
Limited relationship to MECP2 mutation
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Hand Stereotypies:
Rett Syndrome versus Autism Disorder
Wong et al 2012
20 children RS, 20 children Autism Disorder
RS – Predominantly complex, continuous, midline and involving
mouthing
AD – Simple, bilateral, intermittent and involving objects
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Do Hand Stereotypies vary between Typical and Atypical Rett
Syndrome?
Wong et al 2017
43 Typical RS, 15 Atypical RS
More varied hand stereotypies in Atypical RS
Ringing commonest HS in Typical RS (58.1%)
Flapping commonest HS in Atypical RS (73.3%)
? Decrease >10 years of age
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Hand Stereotypies
Dystonia/Rigidity
Proportion of
RS
Increasing Age
Change in Movement Disorder in Rett Syndrome with
Age
Hand Stereotypies
Dystonia
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Treating Movement Disorders
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“THE POO CYCLE”
Dystonia
Worsens
More
Medication
Given
Gut Motility
Slows
Constipation
Becomes
More
Painful
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“THE POO CYCLE”
Dystonia
Worsens
More
Medication
Given
Gut Motility
Slows
Constipation
Becomes
More
Painful
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“THE POO CYCLE”
Dystonia
Worsens
More
Medication
Given
Gut Motility
Slows
Constipation
Becomes
More
Painful
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“THE POO CYCLE”
Dystonia
Worsens
More
Medication
Given
Gut Motility
Slows
Constipation
Becomes
More
Painful
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“THE POO CYCLE”
Dystonia
Worsens
More
Medication
Given
Gut Motility
Slows
Constipation
Becomes
More
Painful
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“THE POO CYCLE”
Dystonia
Worsens
More
Medication
Given
Gut Motility
Slows
Constipation
Becomes
More
Painful
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“THE POO CYCLE”
Dystonia
Worsens
More
Medication
Given
Gut Motility
Slows
Constipation
Becomes
More
Painful
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“THE POO CYCLE”
Dystonia
Worsens
More
Medication
Given
Gut Motility
Slows
Constipation
Becomes
More
Painful
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“THE POO CYCLE”
Dystonia
Worsens
More
Medication
Given
Gut Motility
Slows
Constipation
Becomes
More
Painful
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Why Treat Movement Disorders in RS
Medications very significant side effects, so very important to have clear
rationale for treatment, as well as some way of measuring if desired
outcome has been achieved:
• Painful/Distressing
• Disabling
• Interfere with care
• Musculoskeletal deformity
• Respiratory compromise
Need to consider what metric to judge success
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Avoid
Triggering
Factors
Treat
Triggers
Directly
Treat
Movement
Good pressure/skin
care
Good sleep hygiene
Nutrition/varied diet
Vaccination
Emotional/Psychological
support
Choice of medication
Depends upon:
Background meds
Urgency of treatment
Other aspects of
Motor Disorder etc
Analgesia
Laxatives
Relieve urinary retention
Orthopaedic input
Antibiotics
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How much do we know about Epilepsy and Movement Disorders
in Rett Syndrome
Pubmed search results
“Rett Syndrome” = 3347
“Rett Syndrome” AND “Epilepsy” = 345
“Rett Syndrome” AND “stereotypy” = 160
“Rett Syndrome” AND “Dystonia” = 38
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Is it always easy to tell if a movement is a Seizure
Or a Movement Disorder?
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Discriminating between Seizures and Movement
Disorders
• Get a description
• Get a video
• Get an EEG
• Get a longer EEG
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Conclusions
Epilepsy very common in RS, and runs a varied clinical course
No RS specific epilepsy
Movement Disorder almost universal in RS (hand stereotypies)
Hand stereotypies appear to reduce with age, whilst dystonia and
rigidity become more prevalent
No RS specific evidence based guidance for management of either
epilepsy or movement disorders
Multimodal management important, with a clear view of the goal of
intervention