What is the Rett Syndrome Health Checklist?

The Rett Syndrome Health Checklist provides families, carers and health care professionals with an overview of i) the multiple simultaneous health problems that typically occur, (ii) the warning signs that would alert you to the different problems and (iii) referral and treatment pathways, plus links for further reading including relevant research papers.

How was the Rett Syndrome Health Checklist developed?

The checklist has been written by the Rett Disorders Working Group. This group includes experienced Rett specialists in primary and secondary health care as well as parents and representatives from the wider patient organisations (Reverse Rett, Rett UK and FOXG1). Please see list of acknowledgements regarding the professionals who have been involved and their disciplines.

Key Principles for Primary and Secondary Health Care Professionals

The Health Checklist is not intended to be an exhaustive list. Whilst we know so much more about Rett Syndrome than we did 30 years ago, we are learning new things all the time, particularly about how the syndrome manifests in middle age, as we now have the first people who were diagnosed in the UK reaching middle age and later life.

Having a diagnosis of Rett Syndrome does not exclude the person from developing other problems that you would see in the neurotypical population, but symptoms may be masked by the complexity of the disability and the person’s limited ability to communicate. Talking and listening to parents and carers who know the person really well is key to understanding the nature of the problem and what is ‘typical/atypical’ behaviour or presentation for that individual.

Starting Point for GPs

• Is this symptom normal in a neurotypical person of the same age?
• Is something new, or has something got worse?
• Has this led to increased impairment?
• Could any medications/contra-indications be responsible?

Be honest about the limitations of your knowledge and recognise the knowledge of the parent or carer – both about the condition and their daughter/son/client. Escalate up the care pathway where necessary to ensure accurate diagnosis and treatment.

If new medications are to be introduced, this should be started from a low dose and continued at the lowest dose at which beneficial effects are seen. Any increases necessary should be implemented slowly with careful monitoring of all symptoms for any adverse effects.

Stages of Rett Syndrome

Rett Syndrome has been described as being in four stages: early signs, regression, plateau and late motor deterioration (Refer to NHS Choices Rett Syndrome). This can be applied in general terms but there is a spectrum in severity and environmental factors can influence the progression of the disorder to some extent. Some symptoms fluctuate as the disorder progresses. Some children who are at the severe end of the spectrum may have a less marked regression as they did not develop many skills in infancy, because problems emerged earlier on. Some continue to ambulate throughout life.

However, what should be noted about the fourth stage instead, is that it does not imply an end of life scenario and the same investigations, treatment and care should be instigated as they would be for a neurotypical person presenting at A & E or as an inpatient.

Rett 'Episodes'

Some Rett literature, particularly the less recent information, refers to ‘Rett episodes’ as a general way of describing an unusual movement or breathing pattern but this is not helpful in finding the root cause of the problem and treating it appropriately. We strongly discourage the use of this term. Every effort should be made to accurately assess and diagnose the problem.

Annual Health Checks

Young people with Rett Syndrome aged 14 and above should have at least an annual health review with their GP. Whilst their care is likely to be managed by a community paediatrician up to age 18, it is very important that the GP does have some knowledge and experience of the young person as they will become the first point of referral post 18.

‘Survival in to the 5th decade is typical in RTT, and death due to extreme frailty has become rare.’ (Tarquinio et al)

In a recent study entitled, ‘The changing face of survival in Rett Syndrome and MECP2-related disorders’, survival for classic and atypical RTT was greater than 70% at 45 years.

Whilst Rett Syndrome can be life-limiting, the leading cause of death is cardiorespiratory compromise. Many of these risk factors for early death can be managed. Intense therapeutic approaches could further improve the prognosis for patients with Rett Syndrome.

Cognitive Ability of People with Rett Syndrome

Parents and carers for many years have said that their daughter/son understands far more than they are given credit for but until very recently there had been few attempts to try and assess this. Advances in eye gaze technology, in particular, have facilitated some meaningful assessments of language and cognition in children with Rett Syndrome.

For example, in studies published by Clarkson et al. (2017) and Ahonniska-Assa et al. (2018), some children were found to have a significant learning disability, others were found to have levels of understanding appropriate for their age, and one or two were above average for their age.

In a recent study entitled, ‘The changing face of survival in Rett Syndrome and MECP2-related disorders’, survival for classic and atypical RTT was greater than 70% at 45 years.

As with the range of symptoms in Rett Syndrome, we are now seeing there is also a range of cognitive ability which may also be influenced by their environment to some extent, but the important message here is not to assume they do not understand. Find out how they communicate, give them every opportunity to be included in conversations, give them the opportunity to express their opinions and wishes. In other words, presume potential.

Key Principles for Parents

You know your son/daughter best and you are their best advocate. Often families of people with Rett Syndrome have significant knowledge and understanding of the disorder. This checklist will support you in conveying critical and validated information quickly to health professionals who may not have experienced Rett Syndrome before.

Keeping a diary and taking video recordings are a very helpful way of tracking changes in behaviour and/or symptoms that you can share with health care professionals to help them to understand your concerns and help with a diagnosis and treatment. Video recordings of when the person is well, as well as of symptoms, can also be useful.

Having an updated record of all medications, current treatment plans and past interventions/surgeries etc. is very helpful to share with health care professionals and saves you having to remember/repeat all this information during consultations or emergency admissions. A good way of doing this is to use either the Rett UK Health Passport or the Rett Registry UK Hospital Passport.

The Health/Hospital Passports will be updated regularly so please refer to Rett UK or Reverse Rett websites to check for updated information. Many families find it really helpful to connect with other families through social media (there are two groups in the UK; Rett Syndrome Facebook Group for UK Families and Rett Syndrome Group for UK Families and Professionals). Both Rett UK and Reverse Rett offer a variety of events where families can meet in person.

Advanced Care Planning

Having an advanced care plan may also be useful to think about what you would want to happen in certain circumstances and have this clearly documented.

Advance care planning is normally a process of discussion between the patient and those who provide care for them, for example, the nurses, doctors, care home manager or family members. Depending on the capacity of the individual with Rett Syndrome, they may choose to express some views, preferences and wishes about their future care. Where this is possible, every reasonable effort should be made to allow them to be involved in decisions which affect their future. However, we recognise that for the majority of people with Rett Syndrome it will be their family and people who know them very well who will be making these decisions.

NHS Choices have a good booklet about Advance Care Planning and Rett UK have some useful guidance on their website.

The Health/Hospital Passports will be updated regularly so please refer to Rett UK or Reverse Rett websites to check for updated information. Many families find it really helpful to connect with other families through social media (there are two groups in the UK; Rett Syndrome Facebook Group for UK Families and Rett Syndrome Group for UK Families and Professionals). Both Rett UK and Reverse Rett offer a variety of events where families can meet in person.