Development of consensus-based guidelines for managing communication of individuals with Rett syndrome

Abstract

Difficulties with communication have a profound impact on the lives of individuals with Rett syndrome and their caregivers. Globally, many families report difficulty accessing appropriate and timely information and services from professionals with expertise in augmentative and alternative communication (AAC) as it pertains to Rett syndrome. To address this need, international consensus-based guidelines for managing the communication of individuals with Rett syndrome were developed by combining available evidence and lived experience with expert opinion. A two-phase Delphi survey was built on statements and recommendations extracted from a review of over 300 pieces of literature combined with survey responses from communication professionals and caregivers. All statements that reached a predetermined threshold of 70% agreement were incorporated into guidelines that consist of 268 statements and recommendations relating to (a) rights of the individual; (b) beliefs and attitudes of communication partners; (c) professional knowledge and team work; (d) strategies to optimize engagement; (e) assessment; and (f) intervention (targets and goals, techniques), including the use of AAC. To date, this project is the largest of its kind, with 650 participants from 43 countries contributing to development of consensus-based guidelines for Rett syndrome.

Aided language modelling, responsive communication and eye-gaze technology as communication intervention for adults with Rett syndrome: three experimental single case studies

“…Eye gaze is the most commonly reported communication form for individuals with Rett syndrome [24,26] and when communication aids are used, eye gaze is often the most feasible access option. However, some individuals may experience difficulties with oculomotor control [2]. Moreover, delay in gaze shifts or immature patterns have been reported in earlier studies [27,28].…”

“…A mutation in the MECP2 gene often confirms the diagnosis [22]. Although motor function varies in those with Rett syndrome, latency, altered muscle tone, stereotypies and dyspraxia hinder execution and timing of communicative behaviours [2,23]. Most individuals are non-speaking and only a small group rely on signs or gestures to communicate [23,24].…”

The Rett Syndrome Gross Motor Scale – Dutch Version (RSGMS-NL) Can Reliably Assess Gross Motor Skills in Dutch Individuals with Rett Syndrome

“…As individuals with Rett syndrome often suffer from prolonged response time and difficulty to act upon direct verbal instructions, 22 the daily functional abilities may be masked when giving verbal instructions or assessing the amount of time used to perform a task as an outcome measure. However, this study observes video material showing mostly spontaneous activities in the living environment of the participants.…”

The GAIRS Checklist: A Useful Global Assessment Tool In Patients With Rett Syndrome

“…Severe physical, language, and social impairments impose a wide range of limitations [2, 3, 4,5]. With reference to communication abilities, some studies [15,16] have aimed to recognize any communicative acts (vocalizations, hand movement stereotypies, body movements, facial expressions, or eye gaze) that would represent a consistent and unequivocal response used by participants with RTT. With respect to communication abilities, Woodyatt and Ozanne [17]…”

“…[12] When standard assessment procedures requiring manual motor functioning for responding have been used to evaluate cognitive functioning, patients with RTT generally achieve age-equivalent performances close to young infants [13,14].Severe physical, language, and social impairments impose a wide range of limitations [2, 3, 4,5]. With reference to communication abilities, some studies [15,16] have aimed to recognize any communicative acts (vocalizations, hand movement stereotypies, body movements, facial expressions, or eye gaze) that would represent a consistent and unequivocal response used by participants with RTT. With respect to communication abilities, Woodyatt and Ozanne [17]…”