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

Rett syndrome: Day to day management

• General health

– Diet and nutrition

• Constipation

• Dental

• Sleep

• Seizures

• Puberty

General health

• Growth

• Diet

• Exercise

General health

Growth

General healthGrowth

Growth Need to also look at:

• Wellness

• Wt in relation to height /BMI

Growth

Growth

Diet• Healthy, balanced diet

– Protein

– Carbohydrate

– Fats

• Micronutrients

– vitamins, minerals

• Fluid

• Fibre

Diet

Nutritional Issues in Rett syndrome

• Poor weight gain

• Poor fluid intake

• Constipation

• Feeding difficulties

• Micronutrient deficiency (iron, calcium, Vit D)

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

• 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

High energy foods

Poor fluid intake

• Dehydration

• Constipation

• Drooling can lead to increase fluid loss

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%

Management of Constipation

• Adequate fibre

• Adequate fluid intake

• Some foods have a laxative effect e.g. prune juice, dried fruits

• Mobility

• Laxatives

– types

Rett syndrome: DentistryCommon problems:

Bruxism (teeth grinding)

Drooling

Hand mouthing and sucking

Bruxism

Loss of tooth structure

Tooth sensitivity

Sound of grinding

Drooling

Pooling of saliva at front of mouth

smell, rash

Management:

encourage mouth closure, bib

Anticholinergic medication

Botox injections

Surgery

Hand mouthing

Arm splints

Gloves

Recommendations:

• Diet

• Brushing

– 3 sided tooth brush +/- mouth prop

• Age appropriate tooth paste

• Regular dental check up

Rett syndrome: Dentistry

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

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

Common sleep problems

Insomnia

Frequent and or prolonged night time waking

Night time laughter

Prolonged day time naps

Disordered breathing

Seizures

Parasomnias

Evaluation of sleep

• Thorough medical history

• Co-existing medical problems

• Medications

• Clinical examination

• Sleep diary

• Objective tests – overnight sleep study PSG, EEG

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

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

Seizures in Rett syndrome

• Treatment

– Anticonvulsants

• Monotherapy vs Polytherapy

• Sodium valproate, lamotrogine, tegretol

• others

– Ketogenic diet

– Vagal nerve stimulator

Puberty

Menstruation

– When will it start?

– Will it be regular ?

– Effect on behaviour, mood, seizures?

– How will I manage ?

Puberty

Management of Menstruation

– Allow normal progression through puberty

– Then consider specific management if required

• Combined oral contraceptive pill

• Depo Provera

• Other

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

Prolonged QTc value

• ECG

• 24hr Holter monitor

if QTc prolonged

• Review Cardiologist

• Avoid medications that

prolong QT interval

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

Rett syndrome: Day to day management

• Questions ?