Losing the ability to communicate is a terrifying prospect, and yet communication is a key facet of many developmental conditions that is often overlooked and under-researched. For families of people living with Rett syndrome (RTT), communication problems have an immeasurable impact on quality of life but there remains a paucity of evidence-based guidelines for improving these skills.
Rett syndrome (RTT)
RTT is a genetic condition affecting 1 in 10,000 girls, most commonly caused by mutations in the gene MECP2, which is vital for normal brain function. It is an X-linked disorder, affecting girls and women almost exclusively. Girls born with RTT often have a period of several months with normal development, with difficulties becoming apparent later when the effects on brain function can be severe and widespread, impacting motor control and leading to seizures.
Although strides have been made to define the genetic basis of RTT, few studies have been funded or conducted that demonstrate effective interventions for positively affecting day-to-day life, despite the devastating consequences of the condition. Girls with RTT may lose the use of their hands as well as their ability to talk, making it extremely difficult for parents to understand and respond to their child’s wants and needs. These difficulties can be a source of profound distress and frustration and yet there are few well-established strategies for parents to adopt to help their children communicate.
Professor Jennifer McComas is at the forefront of complex behavioural research, specialising in developmental disorders. A key aspect of her work is telehealth, a field of healthcare which can be carried out remotely, linking patients to healthcare professionals in real time by video connection via the internet. Prof McComas has recently launched a trial using telehealth to assess an intervention model to improve communication for people with RTT.
Developing an intervention model
Designing an intervention trial in RTT is complex given the heterogeneity in how girls and women are affected by the syndrome – a one-size-fits-all approach is doomed to fail. Prof McComas’ current trial, funded by the National Institutes of Health (NIH), is USA-wide – facilitated by the use of a video conferencing system – and aims to recruit people with RTT from toddlerhood to adults aged 30 years old.
The innovative trial takes a tailored approach, which allows for the wide range of abilities and ages within the research participants. The starting point of the project is to characterise the personal behaviours each participant uses to try to make themselves heard, which might include head orientation, eye gaze or reaching for objects. Fundamental to this is the central hypothesis that girls and women with RTT have the capacity to communicate and that these behaviours are done with intent.
Functional Communication Training
Reinforcing stimuli are identified for each individual, which may include simple positive reinforcers, such as a favourite snack. After assessing the reliability of each of these reinforcers in a series of randomised sequences, the research team begins the intervention coaching phase – known as functional communication training. To do this, participants use devices known as augmentative alternative communication aids, which may come in the form of colourful switches or eye gaze technology to detect prolonged gaze, depending on availability, an individual’s ability, and their preference. After becoming accustomed to these devices, researchers can then focus on training participants to use them as aids to make requests for highly preferred items or activities identified previously.
A vital outcome of the trial is the effect on quality of life, and data to assess this are being collected during the study. Prof McComas’ premise is that the functional training will have a noticeable positive impact on quality of life for participants.
Throughout the study, researchers work from a behaviour lab on the University campus and engage remotely via video conferencing with participants in their home, using observational techniques and formalised interviews with caregivers to assess behaviours.
A huge advantage of telehealth is that it negates the barriers posed by geography to allow engagement with rural families who might otherwise struggle to access services or take part in research. Overcoming these barriers to healthcare is particularly important for people with developmental disorders such as RTT, because people with disabilities are more likely to be socially marginalised. The approach also has the advantage of being less time intensive as it takes place in the home and reduces the delay in starting the intervention compared with traditional services. Preliminary data from the study indicate that the intervention coaching results in the participants’ reliable use of the communication devices and suggest that the telehealth approach is acceptable for care givers and is an effective way to engage with families multiple times per week.
At the end of the trial, Prof McComas and her research team hope that they will have made a major contribution to the scientific understanding of the complex communication requirements of people with RTT, as well as a blueprint for a reliable intervention. In the meantime, their commitment to overcoming the difficulties posed by this under-studied syndrome will bring hope for many families living with RTT.
High speed internet access and a device with a camera and screen (e.g., laptop, tablet, smart phone).
What first motivated you to research Rett syndrome?
I met a family whose daughter has RTT and did not have a reliable way to communicate. I suspected that the methods we use with individuals with other disorders (e.g., autism spectrum disorder) might be effective with individuals with RTT.
RTT has been described as a ‘Rosetta stone’ syndrome, in that making headway with RTT syndrome could aid understanding of other conditions. What other conditions might benefit from the insights gained in this trial?
Other neurodevelopmental disorders such as FOXG1, CDKL5, or others that involve severe communication impairments.
Are there prevailing myths around RTT or intellectual disability in general that you wish you could dispel?
There is absolutely no evidence that individuals with RTT or other developmental disorders cannot learn. Individuals with RTT and other developmental disorders have personalities, preferences, and the ability to communicate. It is our job to solve the puzzle of how to best teach them how to communicate and to pay attention to their personalities and preferences.
What are your hopes for the future of RTT research?
My hope is that there will be increased attention, in the form of research funding and dissemination, of rigorous research demonstrating effective interventions that positively impact the day-to-day lives of individuals with RTT.
Prof McComas’ research explores the applications of basic behavioural processes to socially meaningful behaviour, and persistence and resurgence of behaviour post-treatment. Her recent studies employ the use of telehealth to teach communication to individuals with complex communication needs including Rett syndrome.
- National Institutes of Health (NIH)
- National Institute on Deafness and Other Communication Disorders (NIDCD)
- Frank J. Symons, PhD
- Art Beising, MD
Prof McComas is Professor of Special Education/Educational Psychology at the University of Minnesota. Her translational research informs both basic behavioural science and applied interventions for improving early communication and addressing severe problem behaviour. She directs a telehealth lab which overcomes geographic barriers to allow frequent interactions with families of individuals with intellectual and developmental disorders and severe behaviour problems.
Prof Jennifer J. McComas, Ph.D
Professor of Special Education
Rodney S. Wallace Professor for the Advancement of Teaching and Learning
Department of Educational Psychology
University of Minnesota
56 East River Rd.
Minneapolis, MN 55455