22q11 deletion syndrome: Parents’ and children’s experiences of educational and healthcare provision in the United Kingdom

22q11 deletion syndrome (22q11DS) is a genetic syndrome, prevalence around 1:4000–1:6000 live births, with a complex array of associated features, impacting on healthcare and educational support. This study reports the perceptions of families and individuals with 22q11DS in relation to these needs. Individuals and families of those with 22q11DS were approached though two national charities – the Max Appeal and 22Crew. An initial observational survey design was used to gather views via questions probing access to healthcare and educational experiences. Thirty-four responses were received and the data subjected to descriptive analysis. Over half of the respondents were diagnosed before the age of 1. Ninety-one percent reported ongoing difficulties with learning at school, compounded by school attendance being compromised as a result of medical interventions. Individuals reported engaging heavily with educational support and a high number of health professions (mean 9.5; mode 10). Age of diagnosis of 22q11DS ranged from birth to nine years. Families had ongoing concerns about aspects of education and healthcare services, and lack of knowledge and awareness of the difficulties faced by individuals with 22q11DS was raised. Healthcare and education providers should be aware of the range of services individuals required on a regular basis so as to provide a more holistic approach to care.

Retrospective longitudinal analysis of phonetic and phonological cleft palate speech characteristics

In this study, we analysed phonetic and phonological consonant characteristics of cleft palate speech (CPS) at ages 5 and 10 in cleft palate with/without cleft lip (CP±CL) based on Cleft Audit Protocol for Speech – Augmented (CAPS-A) data collected in the Dental Hospital in Glasgow. The nature and extent of CPS characteristics at different ages were investigated. Video-recordings of 42 cleft palate (CP), unilateral cleft lip and palate (UCLP) and bilateral cleft lip and palate (BCLP) boys and girls were analysed based on narrow transcription and automatic PROPH (profile of phonology) of types of articulation features. Results of this study showed that CP±CL children produce a significantly higher number of phonetic CPS characteristics than phonological processes at both ages

The national CLEFTNET project for individuals with cleft palate

Although previous studies have demonstrated the benefits of using electropalatography (EPG) for treating therapy-resistant articulation errors associated with cleft palate, until recently access to this form of treatment has been limited. For the past 10 years, however, the CLEFTNET Scotland project has provided individuals with cleft palate access to EPG therapy. CLEFTNET represented a novel form of EPG service delivery – it linked the cleft palate centres throughout Scotland to Queen Margaret University College (QMUC) in Edinburgh through an electronic network. EPG data collected in the centres were sent to QMUC, where experts conducted detailed analysis leading to a precise diagnosis of each individual’s specific articulation difficulty and suggested therapy guidelines to the specialist speech-language therapists based on their analysis. This form of service delivery has recently extended to include England, Wales and Northern Ireland to form CLEFTNET UK. This paper describes the CLEFTNET projects, discusses orthodontic issues relevant to EPG therapy for individuals with cleft palate, and presents a case study to illustrate how therapy guidelines for speech-language therapists are derived from data analysis

An ultrasound investigation of tongue dorsum raising in children with cleft palate +/- cleft lip

Objective: This study aimed to determine whether overuse of the tongue dorsum, or back, is evident in children with repaired cleft palate with or without cleft lip (CP+/-CL). We hypothesized that children with CP+/-CL would show overuse of the tongue dorsum, a compensatory pattern. Method: Secondary data analysis of mid-sagittal ultrasound tongue imaging data from 31 children with CP+/-CL and 29 typically developing children were used. We annotated the consonants /ʃ, t, s, k/ at the point of maximum constriction in an /aCa/ environment. Children with CP+/-CL said the tokens 10 times, typically developing children said them once. We automatically fitted splines to the tongue contour and extracted the Dorsum Excursion Index (DEI) for each consonant. This metric measures the relative use of the tongue dorsum, with more posterior consonants having higher values. We compared DEI values across groups and consonants using a linear mixed effects model. DEI was predicted by the interaction of consonant (baseline: /ʃ/) and speaker type (baseline: TD), including by-speaker random slopes for consonant and random intercepts for speaker. Results: Overall DEI was not higher in children with CP+/-CL compared to typically developing children. Between groups the only significant difference was the position of /k/ relative to /ʃ/, where the difference between these two consonants was smaller in the children with CP+/-CL. Conclusions: There was no support for the hypothesis that overuse of the tongue dorsum is a common characteristic in children with repaired CP+/-CL. However, individual children may present with this pattern

Protocol for SonoSpeech Cleft Pilot : a mixed-methods pilot randomized control trial of ultrasound visual biofeedback versus standard intervention for children with cleft lip and palate

Background: Children with cleft lip and palate can continue to have problems producing clear speech after surgery. This can lead to social, emotional, and educational challenges. Typical treatment involves teaching children the correct tongue movements to produce speech sounds. This is known as articulation intervention. However, this intervention is challenging because the tongue is hidden from view and movements are difficult to see and describe. This pilot randomized control trial will try a new treatment, ultrasound visual biofeedback (U-VBF) versus standard articulatory intervention for children with cleft lip and palate, as comparison. Feasibility outcomes will be determined. Methods/design: The Sonospeech project will enroll up to 40 children with cleft lip and palate aged 4;6 to 16 in a mixed-methods randomized controlled trial with blinded assessors. Children will receive either six sessions of U-VBF or articulation intervention. The primary goals of this pilot are to assess the feasibility and inform the design of a full-scale RCT of U-VBF for children with cleft speech characteristics. This will be achieved by determining the following outcome measures: recruitment/attrition rates; measures of pre-post follow-up completion; and acceptability of the randomization and interventions to families. Discussion: Larger trials of speech interventions for children with cleft lip and palate are needed. This pilot/feasibility study will determine whether a larger randomized control trial comparing ultrasound and articulation interventions is feasible. Trial registration: ISRCTN, ISRCTN17441953. Registered 22 March 2021. See Table 2 in Appendix 1 for all items

Visualising speech : using ultrasound to diagnose and treat speech disorders in children with cleft lip and palate

BACKGROUND: Children with cleft lip and palate (CLP) often continue to have problems producing clear speech long after the clefts have been surgically repaired, leading to educational and social disadvantage. Speech is of key importance in CLP from both a quality of life and surgical outcome perspective, yet assessment relies on subjective perceptual methods, namely phonetic transcription. This is particularly problematic in CLP where the range of error types is arguably far greater than for other speech sound disorders, leading to problems with reliability (Howard & Lohmander, 2011). Moreover, CLP speech is known to be vulnerable to imperceptible error types, such as double articulations which can only be understood with instrumental techniques. Incorrect transcription of these errors can result in misdiagnosis and subsequent inappropriate intervention which can lead to speech errors becoming deeply ingrained. Until now, the technique of choice (recommended by the UK professional body for Speech & Language Therapists) for assessing articulatory errors in CLP has been electropalatography, with a number of small n studies showing it to be a powerful technique for identifying imperceptible errors and treating them by using real-time EPG for biofeedback. However, EPG is expensive and logistically difficult to manage. In contrast, ultrasound is cheaper and arguably better equipped to image the posterior articulations (such as pharyngeals) which are common in CLP. This study will present an ultrasound assessment protocol for the assessment of CLP speech which is designed to dovetail with current assessment practices used in Europe. Methods: We will use UTI to both qualitatively and quantitatively identify errors in the speech of 40 children with CLP. Data will consist of materials from the CLEFTNET protocol: spontaneous counting, 10 repetitions of all consonants in /aCa/, sentences from GOS.SP.ASS. 98 (Sell, Harding & Grunwell, 1998) and 5 minimal sets contrasting common substitutions (e.g. “a ship, a sip, a chip”). Ultrasound data will be collected using a Sonospeech high-speed cineloop system at 80fps over a 150 degree field of view. The ultrasound probe will be placed under the chin using a new lightweight stabilising head set. Analysis: Consonants will be annotated using Articulate Assistant Advanced (AAA) software (Articulate Instruments, 2012), after which we will systematically analyse the data to identify each of Gibbon’s eight error types (Gibbon, 2004) using measures by Zharkova (2013, 2016) and Dawson, Tiede and Whalen (2016).Conclusions: Data collection is ongoing. This poster will present the protocol for the study and some preliminary data demonstrating cleft-type speech characteristics which can be identified using ultrasound

Visualising speech: Identification of atypical tongue-shape patterns in the speech of children with cleft lip and palate using ultrasound technology

Susan lloyd - ORCID: 0000-0003-4338-3630 https://orcid.org/0000-0003-4338-3630Item deposited in University of Strathclyde (Strathprints) repositpory on 30 April 2018, available at: https://strathprints.strath.ac.uk/id/eprint/63886Previous research by Gibbon (2004) shows that at least 8 distinct error types can be identified in the speech of people with cleft lip and palate (CLP) using electropalatography (EPG), a technique which measures tongue-palate contact. However, EPG is expensive and logistically difficult. In contrast, ultrasound is cheaper and arguably better equipped to image the posterior articulations (such as pharyngeals) which are common in CLP. A key aim of this project is to determine whether the eight error types made visible with EPG in CLP speech described by Gibbon (2004) can be also be identified with ultrasound. This paper will present the first results from a larger study developing a qualitative and quantitative ultrasound speech assessment protocol. Data from the first 20 children aged 3 to 18 with CLP will be presented. Data are spoken materials from the CLEFTNET protocol. We will present a recording format compatible with CAPS-A to record initial observations from the live ultrasound (e.g. double articulations, pharyngeal stops). Two Speech and Language Therapists analysed the data independently to identify error types. Results suggest that all of the error types, for example fronted placement and double articulations can be identified using ultrasound, but this is challenging in real-time. Ongoing work involves quantitative analysis of error types using articulatory measures.http://craniofacialsociety.co.uk

Visualising speech: Using ultrasound visual biofeedback to diagnose and treat speech disorders in children with cleft palate

Susan Lloyd - ORCID: 0000-0003-4338-3630 https://orcid.org/0000-0003-4338-3630Children with cleft lip and palate (CLP) often continue to have problems producing clear speech long after the clefts have been surgically repaired, leading to educational and social disadvantage. Speech is of key importance in CLP from both a quality of life and surgical outcome perspective, yet assessment relies on subjective perceptual methods, with speech and language therapists (SLTs) listening to speech and transcribing errors. This is problematic because perception-based phonetic transcription is well known to be highly unreliable(Howard & Lohmander, 2011) especially in CLP, where the range of error types is arguably far greater than for other speech sound disorders. Moreover,CLP speech is known to be vulnerable to imperceptible error types, such as double articulations which can only be understood with instrumental techniques such as ultrasound tongue imaging (UTI). Incorrect transcription of these errors can result in misdiagnosis and subsequent inappropriate intervention which can lead to speech errors becoming deeply ingrained.https://www.rcslt.org/past-events-and-webinars/rcslt-conference-201

Improving the reliability of phonetic transcription in cleft lip and palate using ultrasound tongue imaging

Objective: This study investigated whether adding an additional modality, namely ultrasound tongue imaging, to perception-based phonetic transcription impacted on the identification of compensatory articulations and inter-rater reliability. Patients and Methods: Thirty-six children aged 3 to 12 with CLP were recorded producing repetitions 5 of /aCa/ for all places of articulation with simultaneous audio and probe-stabilised ultrasound. Three types of transcriptions were performed: 1. Traditional phonetic transcription by a CLP specialist from 7 audio recording; 2. Qualitative observations from the live ultrasound by the clinician recording the data; and, 3. Qualitative ultrasound-aided transcription by two ultrasound-trained clinicians. We compared the number of consonants identified as in error by each transcriber and then classified 10 errors into eight different subcategories. Results: Both the ultrasound-aided and traditional transcriptions yielded similar error-detection rates, however these were significantly higher than the observations recorded live in the clinic. Inter-rater reliability for the ultrasound transcribers was substantial, compared to moderate for the traditional transcribers. Ultrasound-aided transcribers were more likely to identify covert errors such as double articulations and retroflexion than the audio-only transcribers. Conclusion: Ultrasound-tongue imaging is a useful complement to traditional phonetic transcription