dr carolyn ellaway's presentation - beyond respite 2014
TRANSCRIPT
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RETT SYNDROME: Beyond Respite
Family Forum 2014
Carolyn J Ellaway MBBS PhD FRACP CGHGSA
Western Sydney Genetics ProgramThe Children’s Hospital at Westmead
Discipline of Paediatrics and Child HealthUniversity of Sydney
Australia
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Rett syndrome: Day to day management
• General health
– Diet and nutrition
• Constipation
• Dental
• Sleep
• Seizures
• Puberty
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General health
• Growth
• Diet
• Exercise
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General health
Growth
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General healthGrowth
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Growth Need to also look at:
• Wellness
• Wt in relation to height /BMI
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Growth
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Growth
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Diet• Healthy, balanced diet
– Protein
– Carbohydrate
– Fats
• Micronutrients
– vitamins, minerals
• Fluid
• Fibre
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Diet
Nutritional Issues in Rett syndrome
• Poor weight gain
• Poor fluid intake
• Constipation
• Feeding difficulties
• Micronutrient deficiency (iron, calcium, Vit D)
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Micronutrients
• Iron and Vitamin B12
– Meat, fish, poultry
• Calcium
– Dairy products 2-3 serves per day
• Vitamin D
– Fatty fish, liver, cheese, egg yolks
– Sun exposure
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• Offer frequent meals and snacks
– 3 meals & 3 snacks
• Energy and nutrient rich foods
Dairy - cheese, yoghurt, custard, milk (full cream) or dairy alternatives in smoothies, sauces, desserts, snacks.
Fats - Oil, margarine, avocado (unsaturated fats)
Supplements e.g. Sustagen, Polyjoule, Pediasure
Tips to increase energy intake
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High energy foods
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Poor fluid intake
• Dehydration
• Constipation
• Drooling can lead to increase fluid loss
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Tips to increase fluid intake
• Offer fluid throughout the day
• High energy liquid type foods e.g. ice-cream, milk shakes, smoothies, jelly, icy-poles, soups, Sustagen type drinks.
• Some foods are naturally high in water e.g. Fruit - watermelon 92%
Vegetables – tomato 94%
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Management of Constipation
• Adequate fibre
• Adequate fluid intake
• Some foods have a laxative effect e.g. prune juice, dried fruits
• Mobility
• Laxatives
– types
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Rett syndrome: DentistryCommon problems:
Bruxism (teeth grinding)
Drooling
Hand mouthing and sucking
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Bruxism
Loss of tooth structure
Tooth sensitivity
Sound of grinding
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Drooling
Pooling of saliva at front of mouth
smell, rash
Management:
encourage mouth closure, bib
Anticholinergic medication
Botox injections
Surgery
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Hand mouthing
Arm splints
Gloves
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Recommendations:
• Diet
• Brushing
– 3 sided tooth brush +/- mouth prop
• Age appropriate tooth paste
• Regular dental check up
Rett syndrome: Dentistry
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Exercise & mobility• Standing and walking
• Maintaining ambulation
• Encourage transitioning skills
• Ensure good joint ROM
• Maintaining muscle length
• Minimising musculoskeletal deformities
• Endurance and fitness – daily exercise
• Transferring and lifting skills
Hydrotherapy is good for all of the above skills
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Sleep in Rett syndrome
• Sleep problems are common
• 70 – 80 % of females with classical RTT
• All ages
– Sleep longer during the day
– Sleep less at night
– Total sleep time is greater than age related peers
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Common sleep problems
Insomnia
Frequent and or prolonged night time waking
Night time laughter
Prolonged day time naps
Disordered breathing
Seizures
Parasomnias
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Evaluation of sleep
• Thorough medical history
• Co-existing medical problems
• Medications
• Clinical examination
• Sleep diary
• Objective tests – overnight sleep study PSG, EEG
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Management of sleep disturbance
• Non medical interventions
Daily activity
Sleep hygiene with regular bed time routine
• Medical Management
Treat co – existing medical problems
Medications
• Melatonin
• Other
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Seizures in Rett syndrome• Common
• Onset 2 – 5 years
• Noneplileptic eventsBreathing abnormalities, staring, unusual eye or facial movements, tremor, dystonia, jerking, spasticity, laughter or screaming episodes
• Investigations
Standard EEG, sleep deprived EEG or prolonged video EEG
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Seizures in Rett syndrome
• Treatment
– Anticonvulsants
• Monotherapy vs Polytherapy
• Sodium valproate, lamotrogine, tegretol
• others
– Ketogenic diet
– Vagal nerve stimulator
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Puberty
Menstruation
– When will it start?
– Will it be regular ?
– Effect on behaviour, mood, seizures?
– How will I manage ?
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Puberty
Management of Menstruation
– Allow normal progression through puberty
– Then consider specific management if required
• Combined oral contraceptive pill
• Depo Provera
• Other
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Commonly used medications
• Laxatives
• Anti- convulsants
• Reflux medications eg Losec
• +/- antibiotics
Some medications should not be used in the presence of a prolonged QT interval
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Prolonged QTc value
• ECG
• 24hr Holter monitor
if QTc prolonged
• Review Cardiologist
• Avoid medications that
prolong QT interval
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Rett syndrome: Growing older
• Transition to adult services
• Life expectancy
• Health care
• Quality of life, age appropriate activities
• Respite, family support
• Home away from Home
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Rett syndrome: Day to day management
• Questions ?
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