Speech Therapy for Children With Rare Genetic Conditions and Childhood Apraxia of Speech

Murdoch Childrens Research Institute20 enrolled

Overview

The goal of this trial is to learn if speech therapy can improve speech accuracy in children with rare genetic conditions and childhood apraxia of speech (CAS). This study will look at each child individually. Participants will complete 4-weeks of motor speech therapy (3 times per week) and will complete speech assessments before, during and after therapy to measure change. The motor speech therapy will be either Rapid Syllable Transition Treatment (ReST) or Dynamic Temporal and Tactile Cueing (DTTC). Assignment to ReST or DTTC will be based on the participant's age and speech ability. This trial will not compare ReST and DTTC.

This study uses a single case experimental design (SCED) approach with a multiple baseline design. Participants will be allocated to either speech movement therapy approach (Dynamic Temporal and Tactile Cueing \[DTTC\] or Rapid Syllable Transition Treatment \[ReST\]) (based on clinical and speech characteristics). Each participant is allocated to one treatment only. Each participant will follow an A-B-F pattern as follows. A: Baseline: Within each group, participants will be randomly allocated to baseline lengths of 3, 4 or 5 probes (i.e., providing experimental control). Baseline probes will be collected twice per week (i.e., baseline duration will run from 1.5 to 2.5 weeks) B: Treatment: All participants will complete a 4-week treatment block (3 sessions per week) with a qualified speech pathologist. F: Follow-up: Maintenance probes will be completed at 1 week, 4 weeks and 8 weeks post-treatment. Speech outcomes are measured repeatedly during baseline, treatment and follow-up to examine level, trend and maintenance of change over time. The primary objective is to examine the efficacy of currently utilised speech treatments (i.e., DTTC, ReST) on accuracy of trained speech targets in children with CAS and rare genetic conditions. Secondary objectives: * To measure change in accuracy of untrained speech targets (generalisation) * To measure change in connected speech intelligibility * To measure change in functional communication (e.g., parent-reported communication and intelligibility) * To explore parent satisfaction with the intervention and perceived impact on participation and quality of life This trial anticipates n=20 participants, approximately n=10 per treatment group (DTTC, ReST) each contributing to a multiple baseline SCED. Once consented, the individual estimated duration is 4 months: * \< 3 weeks for multiple baseline probes * 4 weeks of treatment (incl. weekly probes) * 8 weeks for follow-up/maintenance probes Treatment: * Intensive speech movement treatment delivered 3x/week for 4 weeks (12x 45-60 minute sessions). * Established DTTC or ReST protocols will be followed. These treatments are manualised. Fidelity will be monitored via checklists and session recordings, with oversight from the CI * Individualised target word sets will be based on each child's phonetic/phonotactic profile (i.e., the sounds and syllable structures they can and cannot produce) * Speech probe assessments collected at each baseline, weekly during treatment, and at 1-, 4- and 8- weeks post-treatment

Interventions

Rapid Syllable Transition TreatmentBEHAVIORAL

ReST is a motor speech treatment targeting prosodic accuracy (correct stress patterns) and smooth transitions between sounds. It uses pseudo-words (also known as nonwords) to remove reliance on meaning and focus on pure motor planning and programming demands (i.e., the core deficit in CAS). Participants will complete 60 minutes of motor speech therapy (ReST), 3 times per week for 4 weeks, totalling 12 treatment sessions.

Dynamic Temporal and Tactile CueingBEHAVIORAL

DTTC is a motor speech treatment. It is designed to support children with CAS who require intensive modelling, cueing, and motor practice. The treatment focuses on syllables rather than isolated sounds and progresses through a hierarchy of simultaneous production (i.e., with the clinician), immediate (copying), delayed, and spontaneous productions based on performance. Cueing is highly flexible and dynamic to ensure accurate speech movement patterns before practice intensity increases. Participants will complete 60 minutes of motor speech therapy (DTTC), 3 times per week for 4 weeks, totalling 12 treatment sessions.

Eligibility

Sex: ALLMin age: 3 YearsMax age: 16 Years

Medical Language ↔ Plain English

Inclusion Criteria: * Children aged between 3 and 16 years, with a confirmed genetic condition and a diagnosis of childhood apraxia of speech; English as the primary language at home; able to participate in speech therapy 3 times per week for 4 weeks Exclusion Criteria: * Diagnosis of an acquired brain or movement condition likely to affect speech; currently receiving motor speech therapy in the community; diagnosis of a behavioural condition likely to impact engagement (i.e., unable to participate for 45 minutes, unable to focus attention at the speech therapist's face for a few minutes at a time, unable to say any sounds and/or use gesture, unable to try to copy speech therapist; intolerant to touch (if touch cues are needed for DTTC)

Outcomes

Primary Outcomes

Change in accuracy of trained speech targets following speech intervention where accuracy is measured by the percentage of words correct on an individualised probe word list

This will be used to determine changes in accuracy of trained speech targets following speech intervention. Accuracy will be determined using an individualised probe word list (a higher percentage of correct words demonstrates higher accuracy).

Time frame: Baseline (3, 4 or 5 baselines depending on baseline allocation, complete twice weekly pre-treatment), Treatment week 1, Treatment week 2, Treatment week 3, Treatment week 4, 1-week post treatment, 4-weeks post treatment, 8-weeks post treatment.

Secondary Outcomes

Change in accuracy of untrained speech targets following speech intervention where accuracy is measured by the percentage of words correct on an individualised probe word list

This will be used to determine changes in accuracy of untrained speech targets following speech intervention. Accuracy will be determined using an individualised probe word list (a higher percentage of correct words demonstrates higher accuracy).

Change in the percentage of subjective (listener-based) single word speech intelligibility following speech intervention measured using the Preschool/Childhood Speech Intelligibility Measure (PSIM/CSIM)

Percent single word intelligibility calculated from Preschool/Childhood Speech Intelligibility Measure (PSIM/CSIM). Higher % is more accurate.

Change in subjective (listener-based) sentence level (connected speech) intelligibility following speech intervention measured using the Assessment of the Intelligibility of Dysarthric Speech (ASSIDS)

The percentage of words correctly understood by an unfamiliar listener will be measured from 22 sentences produced. A higher percentage demonstrates greater accuracy.

Change in objective measures of speech timing following speech intervention measured using acoustic measures obtained from three short speech tasks (2-minute monologue, diadochokinetic rate (i.e., "pa-pa-pa") and sustained vowel.

Acoustic measures of timing (pause length and speech rate) will be obtained from three short speech tasks (2-minute monologue, diadochokinetic rate (DDK) (i.e., "pa-pa-pa") and sustained vowel (i.e., "say ahhh for as long as you can").

Change in objective measures of vocal control following speech intervention measured using acoustic measures obtained from three short speech tasks (2-minute monologue, diadochokinetic rate (i.e., "pa-pa-pa") and sustained vowel.

Acoustic measures of vocal control (fundamental frequency variation) will be obtained from three short speech tasks (2-minute monologue, diadochokinetic rate (DDK) (i.e., "pa-pa-pa") and sustained vowel (i.e., "say ahhh for as long as you can").

Change in objective measures of vocal quality following speech intervention measured using acoustic measures obtained from three short speech tasks (2-minute monologue, diadochokinetic rate (i.e., "pa-pa-pa") and sustained vowel.

Acoustic measures of vocal quality (harmonics-to-noise ratio) will be obtained from three short speech tasks (2-minute monologue, diadochokinetic rate (DDK) (i.e., "pa-pa-pa") and sustained vowel (i.e., "say ahhh for as long as you can").

Tolerability for the parent/caregiver and participant measured using a 5-point Likert scale of strongly agree to strongly disagree

Study specific parent/caregiver and participant tolerability and use survey using 5-point Likert scale of strongly agree to strongly disagree.

Time frame: Completed at end of 4 weeks