Using a Speech-Generating Device to Support Communication in Rare Genetic Conditions

Official title

A Randomized Cross-over Trial Examining the Efficacy of Implementing a Speech-generating Device for Rare Genetic Conditions

Overview

Individuals with rare genetic conditions may experience a delay or loss of developmental skills. Many have limited verbal speech. The aim of this clinical trial is to examine how well a speech-generating device supports the communication skills of participants with a rare genetic condition. The speech-generating device is a communication program loaded onto an iPad. This is a crossover trial, meaning that each participant will receive both the treatment (device) and a control (usual care; no device) phase. The order in which each participant receives the device versus the usual care (no device) will depend on which group the participant is assigned to. The changes in communication in each phase will then be compared. During the trial, participants can expect to complete a series of assessments and attend a total of 2 x 1-hour therapy session per week for 6 weeks.

Detailed description

In Australia, a disease is considered rare if it affects less than 1 in 2,000 individuals. There are over 7,000 rare genetic conditions, with three quarters affecting children. Rare diseases are often serious and progressive, presenting with ongoing health and developmental challenges, including speech and language disorders.

Augmentative and alternative communication (AAC) is one of the ways to support children with little speech and children with rare genetic conditions should have access to such tools as early as possible to maximise learning opportunities. However, the efficacy of high-tech AAC methods, such as speech generating devices, for children with rare genetic conditions have not been rigorously examined.

In this randomised cross-over trial, 38 participants with a rare genetic condition will be randomised into two groups (n=19 per group), which will determine the sequence of treatment delivery. The primary aim of this trial is to evaluate the efficacy of implementing a speech-generating device on communication outcomes compared with their usual care (i.e. no device). Change in communication will be measured using a patient-defined outcome - this outcome is a 'communicative act' chosen at the beginning of the trial with participants and their family. This means that each participant will have an individualised communication outcome which will be targeted during treatment sessions and measured in assessment sessions. The secondary aims include parent-reported communication, family impact and language/communication competence.

Each participant will complete screening, preference testing and baseline assessments about 2-4 weeks before randomisation. Further assessments will be completed before and after each phase. For each participant, the change in assessment scores between the start and the end of each period will be calculated. The mean difference in the change in total score between the two periods will then be calculated.

Each participant is expected to be involved in the study for 12 weeks after randomisation. This is split into two phases (6 weeks each). In the treatment (device) phase, each participant will receive two 1-hour therapy sessions per week, for 6 weeks, with a communication device (or 12 x 1-hour therapy within a 6-week treatment phase). The device is implemented by a qualified speech pathologist on the project team and can occur at Murdoch Children's Research Institute or at the participants' home.

The control (usual care) phase involves another 6 weeks, however, no therapy sessions are provided by the project team. Weekly phone-call or telehealth check-ins will be performed to ensure things are going smoothly.

Interventions

• Device Speech-generating device
  The device is an iPad loaded with a grid-based and speech-generating communication application - a suitable application for the participant is determined at the beginning of the trial. This device is used in all 12 therapy sessions and implemented by a qualified speech pathologist in a natural, play-based setting.
• Other Control
  Participants will continue their current model of care. This means that if participants are receiving speech therapy locally, they may continue to do so given that no speech-generating device is introduced or used during this time. Participants will check in with the researching clinician at least once a week via telehealth or phone call - the aim is to stay in contact with families and reduce loss to follow-up. The clinician will also monitor treatment integrity and document any differences tha

Primary outcome measures

• Changes in the frequency of target communicative act related to the patient-defined outcome determined at the beginning of the trial [Time frame: Baseline, Week 0, Week 6 and Week 12]

Secondary outcome measures (5)

• Changes in overall communicative acts [Time frame: Baseline, Week 0, Week 6 and Week 12]
• Changes in parent-reported communication via the Communication Matrix total score [Time frame: Baseline, Week 0, Week 6 and Week 12]
• Changes in family and caregiver impact assessed via the Family Impact of Assistive Technology Scale for Augmentative and Alternative Communication (FIATS-AAC) [Time frame: Baseline, Week 0, Week 6 and Week 12]
• Changes in family and caregiver impact assessed via semi-structured interviews [Time frame: Baseline, Week 6 and Week 12]
• Changes in Language / Communication Competence assessed via the Low-Verbal Investigatory Survey [Time frame: Baseline, Week 0, Week 6 and Week 12]

Eligibility criteria

Inclusion criteria

• Is between the ages of 3 and 12 years, inclusive, at the time of enrolment
• Has a diagnosis of a rare genetic disorder
• Passes a visual-motor screening test, therefore being able to tap on an iPad spontaneously or by imitation and has adequate hearing
• Considered "minimally verbal" with less than 50 spontaneous words (or gestalts) at baseline assessments, confirmed with the LVIS.
• Is not currently using a speech-generating device with proficiency (i.e. using the device as a main mode of communication on a daily basis).
• Is English-speaking or consents to therapy being conducted in English (parents will need to be able to complete the parent-reported measures in English)

Exclusion criteria

• Has an additional or dual genetic variation (as this is likely to cause multiple complications and increase variability),
• Is extremely ill or has progressed into a later stage of their disease (i.e. child has clinically significant loss of vision, hearing, fine motor skills, or is unable to adequately attend sessions due to illness),
• This is to ensure treatment is beneficial, reduce harm and reduce attrition rates.
• Lives outside of the state of Victoria (making it difficult for in-person appointments)
• Inability or unwillingness of participant or legally acceptable representative to give written informed consent.

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation

Randomized

Model

Crossover

Masking

Single blind

Primary purpose

Supportive care

Study locations

Australia · 1 center

• Murdoch Children's Research Institute — Melbourne

Publications

• Ganz JB, Morin KL, Foster MJ, Vannest KJ, Genc Tosun D, Gregori EV, Gerow SL. High-technology augmentative and alternative communication for individuals with intellectual and developmental disabilities and complex communication needs: a meta-analysis. Augment Altern Commun. 2017 Dec;33(4):224-238. doi: 10.1080/07434618.2017.1373855. Epub 2017 Sep 19. PMID 28922953
• Nunn K, Williams K, Ouvrier R. The Australian Childhood Dementia Study. Eur Child Adolesc Psychiatry. 2002 Apr;11(2):63-70. doi: 10.1007/s007870200012. PMID 12033746
• Light J, McNaughton D. Communicative Competence for Individuals who require Augmentative and Alternative Communication: A New Definition for a New Era of Communication? Augment Altern Commun. 2014 Mar;30(1):1-18. doi: 10.3109/07434618.2014.885080. PMID 30952185
• Elvidge KL, Christodoulou J, Farrar MA, Tilden D, Maack M, Valeri M, Ellis M, Smith NJC; Childhood Dementia Working Group. The collective burden of childhood dementia: a scoping review. Brain. 2023 Nov 2;146(11):4446-4455. doi: 10.1093/brain/awad242. PMID 37471493

Identifiers

NCT: NCT07039084 · 115839

Primary sources (government registries)

• ClinicalTrials.gov (US NIH)

View this study on ClinicalTrials.gov ↗