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Background Aims Method Main Contribution Conclusions & Implications WHAT THIS PAPER ADDS What is already known on the subject What this paper adds to the existing knowledge What are the potential or actual clinical implications of this work? Speech sound disorders (SSDs) in children are heterogeneous. Differentiating children with SSDs into distinct subtypes is important so that each child receives a treatment approach well suited to the particular difficulties they are experiencing.To study the distinct underlying processes that differentiate phonological processing, phonological planning or motor planning deficits.The literature on the nature of SSDs is reviewed to reveal diagnostic signs at the level of distal causes, proximal factors and surface characteristics.Subtypes of SSDs may be identified by linking the surface characteristics of the children's speech to underlying explanatory proximal factors. The proximal factors may be revealed by measures of speech perception skills, phonological memory and speech–motor control. The evidence suggests that consistent phonological disorder (CPD) can be identified by predictable patterns of speech error associated with speech perception errors. Inconsistent phonological disorder (IPD) is associated with a deficit in the selection and sequencing of phonemes, that is, revealed as within‐word inconsistency and poor phonological memory. The motor planning deficit that is specific to childhood apraxia of speech (CAS) is revealed by transcoding errors on the syllable repetition task and an inability to produce [pətəkə] accurately and rapidly.Children with SSDs form a heterogeneous population. Surface characteristics overlap considerably among those with severe disorders, but certain signs are unique to particular subtypes. Careful attention to underlying causal factors will support the accurate diagnosis and selection of personalized treatment options. SSD in children are heterogenous, with numerous subtypes of primary SSD proposed. Diagnosing the specific subtype of SSD is important in order to assign the most efficacious treatment approach for each child. Identifying the distinct subtype for each child is difficult because the surface characteristics of certain subtypes overlap among categories (e.g., CPD or IPD; CAS).SSD in children are heterogenous, with numerous subtypes of primary SSD proposed. Diagnosing the specific subtype of SSD is important in order to assign the most efficacious treatment approach for each child. Identifying the distinct subtype for each child is difficult because the surface characteristics of certain subtypes overlap among categories (e.g., CPD or IPD; CAS). The diagnostic challenge might be eased by systematic attention to explanatory factors in relation to the surface characteristics, using specific tests for this purpose. Word identification tasks tap speech perception skills; repetition of short versus long strings of nonsense syllables permits observation of phonological memory and phonological planning skills; and standard maximum performance tests provide considerable information about speech motor control.The diagnostic challenge might be eased by systematic attention to explanatory factors in relation to the surface characteristics, using specific tests for this purpose. Word identification tasks tap speech perception skills; repetition of short versus long strings of nonsense syllables permits observation of phonological memory and phonological planning skills; and standard maximum performance tests provide considerable information about speech motor control. Children with SSDs should receive comprehensive assessments of their phonological processing, phonological planning and motor planning skills frequently, alongside examinations of their error patterns in connected speech. Such assessments will serve to identify the child's primary challenges currently and as they change over developmental time.Children with SSDs should receive comprehensive assessments of their phonological processing, phonological planning and motor planning skills frequently, alongside examinations of their error patterns in connected speech. Such assessments will serve to identify the child's primary challenges currently and as they change over developmental time. [ABSTRACT FROM AUTHOR]

Little is known about the literacy skills of children with childhood apraxia of speech (CAS) or effective methods for teaching them to read. This systematic scoping review aimed to synthesise what is known about this issue. Nine databases were searched to identify relevant articles. Included articles were categorised by study design, quality, and confidence of CAS diagnosis. Twenty-three articles were included, 17 described literacy skills of children with CAS and six trialled literacy interventions. Children with CAS had early skills deficits that manifest as literacy difficulties in the later school years and beyond. They frequently had poorer outcomes compared with both typical readers and children with other speech disorders. Both the extent of literacy impairment and responsiveness to intervention appear to be related to the severity of speech impairment. Four literacy interventions for children with CAS were identified. Children with CAS are at high risk of literacy difficulty and may require early literacy intervention to help them attain academic success. Further research is warranted to determine the longer-term literacy outcomes of children with CAS, appropriate means of assessment, and whether a systematic synthetic phonics approach is an effective form of literacy instruction for this population. [ABSTRACT FROM AUTHOR]

BackgroundChildhood apraxia of speech (CAS) is a genetically heterogeneous pediatric motor speech disorder. The advent of whole exome sequencing (WES) and whole genome sequencing techniques has led to increased identification of pathogenic variants in CAS genes. In an as yet uncharacterized Italian cohort, we aimed both to identify new pathogenic gene variants associated with CAS, and to confirm the disease-related role of genes already reported by others. We also set out to refine the clinical and neurodevelopmental characterization of affected children, with the aim of identifying specific, gene-related phenotypes.MethodsIn a single-center study aiming to explore the genetic etiology of CAS in a cohort of 69 Italian children, WES was performed in the families of the 34 children found to have no copy number variants. Each of these families had only one child affected by CAS.ResultsHigh-confidence (HC) gene variants were identified in 7/34 probands, in two of whom they affected KAT6A and CREBBP, thus confirming the involvement of these genes in speech impairment. The other probands carried variants in low-confidence (LC) genes, and 20 of these variants occurred in genes not previously reported as associated with CAS. UBA6, ZFHX4, and KAT6A genes were found to be more enriched in the CAS cohort compared to control individuals. Our results also showed that most HC genes are involved in epigenetic mechanisms and are expressed in brain regions linked to language acquisition processes.ConclusionOur findings confirm a relatively high diagnostic yield in Italian patients.

Childhood Apraxia of Speech (CAS) is a disorder which affects not only speech-motor planning but also language ability more broadly. The present study attempts to explore the morphosyntactic, socio-cognitive, and prosody comprehension skills of children with CAS. Twenty preschool children with CAS and 20 typically developing children listened to a story, while viewing a wordless PowerPoint, picture presentation on a computer screen. Then, they were instructed to retell the story. Each participant listened to two stories, one with "lively" and one with "flat" prosody. The results revealed poor socio-cognitive abilities which were also evident in the use of verb-complement clauses, and poor prosody comprehension skills in the group with CAS. These findings affirm that morphosyntactic deficits are not the core characteristic of CAS, and suggest a connection between the production and comprehension of prosody, and between prosodic and (socio)-cognitive skills. [ABSTRACT FROM AUTHOR]

A Phase I study was conducted to examine the treatment effectiveness of the Kaufman Speech to Language Protocol using a research-operationalised protocol. It was hypothesised that articulatory accuracy would improve as a result of the treatment and that these improvements would be maintained after treatment was discontinued. A single case experimental design was used to evaluate the effectiveness of the Kaufman Speech to Language Protocol. Four children with a confirmed childhood apraxia of speech diagnosis were included in this study. Each child received 12 individual 1 hr treatment sessions that each consisted of an approximation setting phase and a practice phase. Probe data was collected during treatment and at post-treatment time points to measure treatment effectiveness and to measure changes in the untreated words. Untreated (control) sounds were included to test whether recorded improvements in articulatory accuracy could be attributed to the Kaufman Speech to Language Protocol. Two of the four children demonstrated a response to the intervention and maintenance of these changes, while the two remaining children demonstrated some generalisation in the absence of improved target (treatment) words. No specific child factors were clearly associated with positive treatment outcomes. This study replicated the findings of an earlier pilot study and found that the operationalised protocol for the Kaufman Speech to Language Protocol is effective in improving articulatory accuracy for some children with childhood apraxia of speech. Additional replication with a further refined treatment protocol and a larger sample size is needed to support a recommendation of clinical use of the Kaufman Speech to Language Protocol. [ABSTRACT FROM AUTHOR]

Copyright of Logopedia e Comunicazione is the property of Edizioni Centro Studi Erickson SpA and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Childhood apraxia of speech (CAS) is a pediatric motor speech disorder. The genetic etiology of this complex neurological condition is not yet well understood, although some genes have been linked to it. We describe the case of a boy with a severe and persistent motor speech disorder, consistent with CAS, and a coexisting language impairment. Whole exome sequencing in our case revealed a de novo and splicing mutation in the CSMD1 gene. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Language, Speech & Swallowing Research / Dil, Konuşma ve Yutma Araştırmaları Dergisi (DKYAD) is the property of Journal of Language, Speech & Swallowing Research / Dil, Konusma ve Yutma Arastirmalari Dergisi and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Abstract Purpose Method Result Conclusion To present the sensitivity and specificity and establish cutoff points (receiver operating characteristic [ROC] curve) for the PraxiFala Battery.The sample included 308 Brazilian-speaking children aged 3;0–7;11. Twenty-one children had motor speech disorders (MSD), 58 children had phonological disorder (PD), and 229 had typical speech (TS) development. Participants were administered the PraxiFala Battery, which contains verbal (word and sentence production), nonverbal (orofacial praxis), and diadochokinetic tasks. The sensitivity and specificity of items in each task were then calculated using ROC curves.Total scores on the verbal (word production), nonverbal (orofacial praxis), and diadochokinetic tasks had good sensitivity and specificity. The only scores with poor sensitivity and specificity in differentiating between TS, PD, and MSD were consistency and prosody in the verbal tasks (sentence production), and item /ta/ in the diadochokinetic task. Area under the ROC curve (AUC) values were greater than 0.7 for most items in the comparison between TS vs. MSD and PD vs. MSD. AUC values were poor or fair among children with TS and PD, suggesting that this instrument may not be accurate in identifying these groups.The verbal, nonverbal, and diadochokinetic tasks in the PraxiFala Battery had good sensitivity and specificity. [ABSTRACT FROM AUTHOR]

This multiple case pilot study explored how nonword imitation influences articulatory and segmental performance in children with and without speech disorder. Eight children, ages 4- to 8-years-old, participated, including two children with childhood apraxia of speech (CAS), four children with phonological disorder (PD), and two children with typical development (TD). Tokens included two complexity types and were presented in random order. Minimal feedback was provided and nonwords were never associated with a referent. Kinematic and transcription data were analysed to examine articulatory variability, segmental accuracy, and segmental variability in session 1 and session 5. Descriptive statistics, percent change, effect sizes, and Pearson correlations are reported. In session 1, the two participants with CAS showed high articulatory variability, low segmental accuracy, and high segmental variability compared to the participants with PD and TD. By session 5, both participants with CAS, two with PD, and one with TD showed increased articulatory variability in the lowest complexity nonword. Segmental accuracy remained low and variability remained high for the two participants with CAS in session 5, whereas several participants with PD and TD showed improved segmental performance. Articulatory and segmental variability were not significantly correlated. The results of this study suggest that motor practice with minimal feedback and no assignment of a lexical referent can instantiate positive changes to segmental performance for children without apraxia. Positive changes to segmental performance are not necessarily related to increased articulatory control; these two processing levels can show distinct and disparate learning trajectories. [ABSTRACT FROM AUTHOR]

Abstract Background Childhood apraxia of speech (CAS) is a pediatric motor-based speech sound disorder that requires a specialized approach to intervention. The extant literature on the treatment of CAS commonly recommends intensive treatment using a motor-based approach, with some of the best evidence supporting the use of Dynamic Temporal and Tactile Cueing (DTTC). To date, a rigorous and systematic comparison of high and low dose frequency (i.e., frequency of therapy sessions) has not been undertaken for DTTC, resulting in a lack of evidence to guide decisions about the optimal treatment schedule for this intervention. The current study aims to fill this gap in knowledge by comparing treatment outcomes when dose frequency is varied. Methods A randomized controlled trial will be conducted to examine the efficacy of low versus high dose frequency on DTTC treatment outcomes in children with CAS. A target of 60 children, 2;6–7;11 years of age, will be recruited to participate in this study. Treatment will be provided in the community setting by speech-language pathologists who have completed specialized training administering DTTC in a research reliable manner. True randomization with concealed allocation will be used to assign children to either the low or high dose frequency group. Treatment will be administered in 1-h sessions either 4 times per week over a 6-week period (high dose) or 2 times per week over a 12-week period (low dose). To measure treatment gains, probe data will be collected before treatment, during treatment, and 1 day, 1 week, 4 weeks, and 12 weeks post-treatment. Probe data will consist of customized treated words and a standard set of untreated words to assess generalization of treatment gains. The primary outcome variable will be whole word accuracy, encompassing segmental, phonotactic, and suprasegmental accuracy. Discussion This will be the first randomized controlled trial to evaluate dose frequency for DTTC treatment in children with CAS. Trial registration ClinicalTrials.gov identifier NCT05675306, January 6, 2023.

Music-based interventions are used in the treatment of childhood speech sound disorders (SSDs). Hypotheses on working mechanisms are being developed, focussing on shared neural processes. However, evidence of the effect of treatment with musical elements in SSDs in children is lacking. This study reviews the literature regarding the use of music-based interventions in the treatment of childhood SSDs. A systematic search in six databases was conducted, yielding 199 articles, eight of which met the inclusion criteria. Included articles were reviewed on study characteristics, patient characteristics, interventions, outcomes and methodological quality. This review included four case studies, three single-subject design studies and one cohort study. Seven studies reported positive outcomes on speech production, but outcome measures in the four studies with experimental design were not all aimed at the level of speech (motor) processes. Methodological quality was sufficient in one study. Seven out of eight studies in this review report positive outcomes of music-based interventions in the treatment of SSDs. However, these outcomes are not sufficiently supported by evidence due to insufficient methodological quality. Suggestions for improving methodological quality in future research are presented. [ABSTRACT FROM AUTHOR]

Background Aims Main Contribution Conclusion What this paper adds What is already known on the subject What this paper adds to existing knowledge What are the potential or actual clinical implications of this work? ‘Speech sound disorder’ is an umbrella term that encompasses dysarthria, articulation disorders, childhood apraxia of speech and phonological disorders. However, differential diagnosis between these disorders is a persistent challenge in speech pathology, as many diagnostic procedures use symptom clusters instead of identifying an origin of breakdown in the speech and language system.This article reviews typical and disordered speech through the lens of two well‐developed models of production—one focused on phonological encoding and one focused on speech motor planning. We illustrate potential breakdown locations within these models that may relate to childhood apraxia of speech and phonological disorders.This paper presents an overview of an approach to conceptualisation of speech sound disorders that is grounded in current models of speech production and emphasises consideration of underlying processes. The paper also sketches a research agenda for the development of valid, reliable and clinically feasible assessment protocols for children with speech sound disorders.The process‐oriented approach outlined here is in the early stages of development but holds promise for developing a more detailed and comprehensive understanding of, and assessment protocols for speech sound disorders that go beyond broad diagnostic labels based on error analysis. Directions for future research are discussed. Speech sound disorders (SSD) are heterogeneous, and there is agreement that some children have a phonological impairment (phonological disorders, PD) whereas others have an impairment of speech motor planning (childhood apraxia of speech, CAS). There is also recognition that speech production involves multiple processes, and several approaches to the assessment and diagnosis of SSD have been proposed. This paper provides a more detailed conceptualisation of potential impairments in children with SSD that is grounded in current models of speech production and encourages greater consideration of underlying processes. The paper illustrates this approach and provides guidance for further development. One consequence of this perspective is the notion that broad diagnostic category labels (PD, CAS) may each comprise different subtypes or profiles depending on the processes that are affected. Although the approach is in the early stages of development and no comprehensive validated set of tasks and measures is available to assess all processes, clinicians may find the conceptualisation of different underlying processes and the notion of potential subtypes within PD and CAS informative when evaluating SSD. In addition, this perspective discourages either/or thinking (PD or CAS) and instead encourages consideration of the possibility that children may have different combinations of impairments at different processing stages. [ABSTRACT FROM AUTHOR]

Limited evidence for early indicators of childhood apraxia of speech (CAS) precludes reliable diagnosis before 36 months, although a few prior studies have identified several potential early indicators. We examined these possible early indicators in 10 toddlers aged 14–24 months at risk for CAS due to a genetic condition: 7q11.23 duplication syndrome (Dup7). Phon Vocalisation analyses were conducted on phonetic transcriptions of each child's vocalisations during an audio-video recorded 30-minute play session with a caregiver and/or a trained research assistant. The resulting data were compared to data previously collected by Overby from similar-aged toddlers developing typically (TD), later diagnosed with CAS (LCAS), or later diagnosed with another speech sound disorder (LSSD). The Dup7 group did not differ significantly from the LCAS group on any measure. In contrast, the Dup7 group evidenced significant delays relative to the LSSD group on canonical babble frequency, volubility, consonant place diversity, and consonant manner diversity and relative to the TD group not only on these measures but also on canonical babble ratio, consonant diversity, and vocalisation structure diversity. Toddlers with Dup7 also demonstrated expressive vocabulary delay as measured by both number of word types orally produced during the play sessions and primary caregivers' responses on a standardised parent-report measure of early expressive vocabulary. Examining babble, phonetic, and phonotactic characteristics from the productions of young children may allow for earlier identification of CAS and a better understanding of the nature of CAS. [ABSTRACT FROM AUTHOR]

Childhood apraxia of speech (CAS) is a paediatric motor speech disorder. We investigated the lexical tone perception and production abilities of children with CAS and the relationships between the two. Three children with CAS, aged between 3;7 and 5;8, were given the Cantonese Tone Identification Test (CANTIT) and the Hong Kong Cantonese Articulation Test (HKCAT) for assessment of tone perception and production, respectively. Accuracy and error patterns were investigated based on their performance on the two tests. Correlation analysis was performed on children's perception and production scores. Two children scored at the lowest rank on the CANTIT, while one child obtained a Z score of 0. All children scored three standard deviations below the mean on the HKCAT. No statistical differences were found among the six tones with respect to perception accuracy, H(5) = 3.731, p = 0.589. Error analysis showed that children with CAS demonstrated more confusion on perceiving tones compared with TD peers. There were no main effects for task (F(1,2) = 0.040, p = 0.859) or tone (F(5,10 = 0.997, p = 0.467); nor were there task or tone interaction effects on perception versus production accuracy (F(5,10) = 1.772, p = 0.206). Tone perception and production accuracy were not significantly correlated (r2 = 0.181, p = 0.078). Tone perception deficits were evident in two out of three children with CAS, while all children had lexical tone production difficulties. In this small sample, tone production was more universally affected than tone perception. [ABSTRACT FROM AUTHOR]

Background: Childhood apraxia of speech (CAS) is a pediatric motor-based speech sound disorder that requires a specialized approach to intervention. The extant literature on the treatment of CAS commonly recommends intensive treatment using a motor-based approach, with some of the best evidence supporting the use of Dynamic Temporal and Tactile Cueing (DTTC). To date, a rigorous and systematic comparison of high and low dose frequency (i.e., frequency of therapy sessions) has not been undertaken for DTTC, resulting in a lack of evidence to guide decisions about the optimal treatment schedule for this intervention. The current study aims to fill this gap in knowledge by comparing treatment outcomes when dose frequency is varied. Methods: A randomized controlled trial will be conducted to examine the efficacy of low versus high dose frequency on DTTC treatment outcomes in children with CAS. A target of 60 children, 2;6–7;11 years of age, will be recruited to participate in this study. Treatment will be provided in the community setting by speech-language pathologists who have completed specialized training administering DTTC in a research reliable manner. True randomization with concealed allocation will be used to assign children to either the low or high dose frequency group. Treatment will be administered in 1-h sessions either 4 times per week over a 6-week period (high dose) or 2 times per week over a 12-week period (low dose). To measure treatment gains, probe data will be collected before treatment, during treatment, and 1 day, 1 week, 4 weeks, and 12 weeks post-treatment. Probe data will consist of customized treated words and a standard set of untreated words to assess generalization of treatment gains. The primary outcome variable will be whole word accuracy, encompassing segmental, phonotactic, and suprasegmental accuracy. Discussion: This will be the first randomized controlled trial to evaluate dose frequency for DTTC treatment in children with CAS. Trial registration: ClinicalTrials.gov identifier NCT05675306, January 6, 2023. [ABSTRACT FROM AUTHOR]

Adolescents with Childhood Apraxia of Speech (CAS) are likely to have persistent speech errors compared to non-CAS peers (Lewis et al., 2018) and may have ongoing psychosocial issues (e.g. Carrigg, Parry, Baker, Shriberg, & Ballard, 2016). Beyond this, little is known about the long-term consequences of CAS in adulthood. This study explored whether adults who were reported to have had CAS as children have ongoing psychosocial or speech impacts. A cross-sectional descriptive design, with mixed-method analyses of demographic, psychosocial, and speech data was used. Data were collected via a four-part online survey. Part one consisted of questions about demographic information and participants' self-reported performance in speech, language and literacy. Parts two and three investigated the psychosocial impacts of CAS using the Brief Fear of Negative Evaluation Scale – Revised (BFNE- R) and The State-Trait Anxiety Inventory (STAI). Part four collected single word and connected speech data via an online audio recording, which was then transcribed following the Connected Speech Transcription Protocol (CoST-P). Analyses of speech characteristics reported in CAS was completed using Phon software. There were 17 participants in part one, 16 in parts two and three, and six in part four. Participants reported elevated levels of state (p = 0.01) and trait (p = 0.0001) anxiety compared to normative data. Ongoing segmental and suprasegmental speech errors were observed, with a significant difference between percent phonemes correct in single words versus connected speech (p = 0.03). Participants who provided a speech sample had difficulty with correct stress, use of juncture, and had increased intra- and inter-word segregation. Participants with better speech reported less anxiety. Psychosocial effects and speech characteristics associated with CAS in childhood appear to persist into adulthood. Confirmation of these results and research to determine treatment and psychosocial support needs past early childhood is warranted. [ABSTRACT FROM AUTHOR]

The purpose of this paper was to review best-practice methods of collecting and analyzing speech production data from minimally verbal autistic speakers. Data on speech production data in minimally verbal individuals are valuable for a variety of purposes, including phenotyping, clinical assessment, and treatment monitoring. Both perceptual ("by ear") and acoustic analyses of speech can reveal subtle improvements as a result of therapy that may not be apparent when correct/incorrect judgments are used. Key considerations for collecting and analyzing speech production data from this population are reviewed. The definition of "minimally verbal" that is chosen will vary depending on the specific hypotheses investigated, as will the stimuli to be collected and the task(s) used to elicit them. Perceptual judgments are ecologically valid but subject to known sources of bias; therefore, training and reliability procedures for perceptual analyses are addressed, including guidelines on how to select vocalizations for inclusion or exclusion. Factors to consider when recording and acoustically analyzing speech are also briefly discussed. In summary, the tasks, stimuli, training methods, analysis type(s), and level of detail that yield the most reliable data to answer the question should be selected. It is possible to obtain rich high-quality data even from speakers with very little speech output. This information is useful not only for research but also for clinical decision-making and progress monitoring. [ABSTRACT FROM AUTHOR]

Abstract Background Speech is the most common modality through which language is communicated, and delayed, disordered, or absent speech production is a hallmark of many neurodevelopmental and genetic disorders. Yet, speech is not often carefully phenotyped in neurodevelopmental disorders. In this paper, we argue that such deep phenotyping, defined as phenotyping that is specific to speech production and not conflated with language or cognitive ability, is vital if we are to understand how genetic variations affect the brain regions that are associated with spoken language. Speech is distinct from language, though the two are related behaviorally and share neural substrates. We present a brief taxonomy of developmental speech production disorders, with particular emphasis on the motor speech disorders childhood apraxia of speech (a disorder of motor planning) and childhood dysarthria (a set of disorders of motor execution). We review the history of discoveries concerning the KE family, in whom a hereditary form of communication impairment was identified as childhood apraxia of speech and linked to dysfunction in the FOXP2 gene. The story demonstrates how instrumental deep phenotyping of speech production was in this seminal discovery in the genetics of speech and language. There is considerable overlap between the neural substrates associated with speech production and with FOXP2 expression, suggesting that further genes associated with speech dysfunction will also be expressed in similar brain regions. We then show how a biologically accurate computational model of speech production, in combination with detailed information about speech production in children with developmental disorders, can generate testable hypotheses about the nature, genetics, and neurology of speech disorders. Conclusions Though speech and language are distinct, specific types of developmental speech disorder are associated with far-reaching effects on verbal communication in children with neurodevelopmental disorders. Therefore, detailed speech phenotyping, in collaboration with experts on pediatric speech development and disorders, can lead us to a new generation of discoveries about how speech development is affected in genetic disorders.

Childhood apraxia of speech (CAS) is a subtype of motor speech disorder usually co-occurring with language impairment. A supramodal processing difficulty, involving executive functions (EFs), might contribute to the cognitive endophenotypes and behavioral manifestations. The present study aimed to profile the EFs in CAS, investigating the relationship between EFs, speech and language severity, and the connectivity of the frontal aslant tract (FAT), a white matter tract involved in both speech and EFs. A total of 30 preschool children with CAS underwent speech, language, and EF assessments and brain MRIs. Their FAT connectivity metrics were compared to those of 30 children without other neurodevelopmental disorders (NoNDs), who also underwent brain MRIs. Alterations in some basic EF components were found. Inhibition and working memory correlated with speech and language severity. Compared to NoND children, a weak, significant reduction in fractional anisotropy (FA) in the left presupplementary motor area (preSMA) FAT component was found. Only speech severity correlated and predicted FA values along with the FAT in both of its components, and visual-spatial working memory moderated the relationship between speech severity and FA in the left SMA. Our study supports the conceptualization of a composite and complex picture of CAS, not limited to the speech core deficit, but also involving high-order cognitive skills. [ABSTRACT FROM AUTHOR]

Copyright of Logopaedica Lodziensia is the property of Wydawnictwo Uniwersytetu Lodzkiego and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

BCL11A is implicated in BCL11A‐Related Intellectual Development Disorder (BCL11A‐IDD). Previously reported cases had various types of BCL11A variants (copy‐number variations [CNVs], singlenucleotide variants [SNVs]). Phenotypes included global, cognitive, and motor delays, autism spectrum disorder (ASD), craniofacial dysmorphology, and speech and language delays described generally, with only two reports specifying childhood apraxia of speech (CAS). Here, we present three additional children with CAS and de novo BCL11A variants, a p.Ala182Thr nonconservative missense and a p.GLu611.Ter nonsense variant, both in exon 4, and a 106 kb deletion harboring exons 1 and 2. All three children have fine and gross motor discoordination, feeding difficulties, and visual motor disorders. Intellectual and learning disabilities and disordered language skills were seen only in the child with the missense variant and the child with the deletion. These findings align with, and expand, previous findings in that BCL11A variants have significant and highly penetrant apraxic effects across motor systems, consistent with cerebellar involvement. The deletion of exons 1 and 2 is the smallest BCL11A CNV with the full phenotypic expression reported to date. The present results support previous findings in that BCL11A‐IDD can result from BCL11A variants regardless of type (deletion, SNVs). A gene expression study shows that BCL11 is expressed highly in the early developing cerebellum and primary motor and auditory cortices. Significant co‐expression rates in these regions with genes previously implicated in disorders of spoken language and in ASD support the phenotypic overlaps in children with BCL11A‐IDD, CAS, and ASD. [ABSTRACT FROM AUTHOR]

Objectives: The present research aims to identify the assessment and treatment processes used by Iranian Speech-Language Pathologists (SLPs) for Childhood Apraxia of Speech (CAS) and investigate the impact of their knowledge level and experience on their choice of assessment and treatment. Methods: This research is a cross-sectional study using a survey design conducted on 260 SLPs with a minimum of a Bachelor’s degree and at least one year of experience of working with preschoolers. The CAS assessment and treatment were measured by a validated questionnaire, which was completed in person or online. Results: The tests of Diadochokinesis (DDK) (66%), single-word speech sampling (58.1%), oral-motor assessment (54.6%), and connected speech sample analysis (53.1%) were the popular tests chosen by the participants. The treatment approaches indicated that Oral Motor Exercises (OMEs) (57.7%) were the only treatment for which over half of the participants voted. The experts chose phonologically-based treatments and Integrated Phonological Awareness (IPA), but the less-experienced participants were more interested in PROMPT (prompts for restructuring oral muscular phonetic targets). The majority of the participants (70.8%) believed that children with CAS make very slow progress and 21.9% declared that speech problems of such children persist through the school years. Discussion: The participants’ choice of assessment tasks is in line with the results of recent studies. However, opting for outdated treatments such as OME indicates a gap between the clinicians’ knowledge and experience in using evidence-based treatments.

Background: Childhood apraxia of speech (CAS) is a motor-based speech sound disorder (SSD) with a core impairment in the planning and programming of spatiotemporal parameters of speech movement sequences. CAS may cause deficits in both segmental and suprasegmental components of speech, and it can severely affect children's ability to speak intelligibly and communicate effectively and impact their quality of life. Assessment tasks, such as the maximum performance tasks (MPT) and Syllable Repetition Task (SRT), examine children's segmental sequencing skills to assist with the diagnosis of CAS. In Hong Kong, although the MPT and SRT have been used clinically to diagnose CAS in Cantonese-speaking children, their validity has not been reported. There is an urgent need for such investigations. Suprasegmentally, lexical stress errors have been reported as a consensual feature and to aid in the diagnosis of CAS. However, there are challenges in diagnosing CAS in children who speak tonal languages like Cantonese. A recent study has reported lexical tone errors in Cantonese-speaking children with CAS. Furthermore, deficits in pitch-variation skills were found in Cantonese-speaking children with CAS using a tone sequencing task (TST). It is hypothesized that there is a universal deficit in pitch-variation skills among tonal and nontonal language speakers with CAS. Further investigations of pitch-variation skills using the TST in Cantonese-speaking children with CAS may shed light on suprasegmental deficits in tonal languages and contribute to the development of a valid diagnostic tool for CAS in children who speak other tonal languages, such as Vietnamese, Thai, and Mandarin. Objective: This study aims to examine the diagnostic potential of the MPT, SRT, and TST in diagnosing Cantonese-speaking children with CAS and to investigate pitch-variation skills in Cantonese-speaking children with and without CAS. Methods: A total of 25 children with CAS and 3 groups of age- and gender-matched controls (non-CAS SSD only group, non-CAS SSD co-occurring with language impairment group, and typical development group) will be recruited. All participants will perform the MPT, SRT, and TST measures. Their performances on these tools will be perceptually judged and acoustically measured. Results: Data collection will last from January 1, 2022, to October 30, 2023. As of August 2022, the project has recruited 4 children in the CAS group, 21 children in the non-CAS SSD group, 4 children in the speech and language impairment group, and 53 children in the typical development group. Conclusions: It is anticipated that Cantonese-speaking children with CAS will have poorer pitch-variation skills than the control groups and that the MPT, SRT, and TST will be appropriate diagnostic tools for identifying CAS in Cantonese-speaking children. The project will benefit the field of speech-language pathology locally and internationally, with short- and long-term impacts. [ABSTRACT FROM AUTHOR]

Background: Childhood apraxia of speech (CAS) is a genetically heterogeneous pediatric motor speech disorder. The advent of whole exome sequencing (WES) and whole genome sequencing techniques has led to increased identification of pathogenic variants in CAS genes. In an as yet uncharacterized Italian cohort, we aimed both to identify new pathogenic gene variants associated with CAS, and to confirm the disease-related role of genes already reported by others. We also set out to refine the clinical and neurodevelopmental characterization of affected children, with the aim of identifying specific, gene-related phenotypes., Methods: In a single-center study aiming to explore the genetic etiology of CAS in a cohort of 69 Italian children, WES was performed in the families of the 34 children found to have no copy number variants. Each of these families had only one child affected by CAS., Results: High-confidence (HC) gene variants were identified in 7/34 probands, in two of whom they affected KAT6A and CREBBP , thus confirming the involvement of these genes in speech impairment. The other probands carried variants in low-confidence (LC) genes, and 20 of these variants occurred in genes not previously reported as associated with CAS. UBA6, ZFHX4 , and KAT6A genes were found to be more enriched in the CAS cohort compared to control individuals. Our results also showed that most HC genes are involved in epigenetic mechanisms and are expressed in brain regions linked to language acquisition processes., Conclusion: Our findings confirm a relatively high diagnostic yield in Italian patients., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Formicola, Podda, Dirupo, Andreucci, Giglio, Cipriani, Bombonato, Santorelli and Chilosi.)

Verbal Apraxia, also called Apraxia of Speech (AOS) is a speech sound condition that affects a person's ability to translate conscious speech goals into motor plans, resulting in limited and difficult communication. This article presents an investigation on the designing of a 2D animation and its use as a therapy for Verbal Apraxia. This paper aims to investigate animation principles and to design and develop an animation video as a therapeutic solution. The expected outcome of this paper is a comprehensive analysis of the cognitive training in verbal therapy while focusing on spreading awareness of verbal apraxia towards society. In conclusion, this animation video runs successfully and meets all the objectives completely. Therefore, this proposed 2D animation is expected to contribute as a teaching syllabus for special needs schools and produce great usability for the users. [ABSTRACT FROM AUTHOR]

Previous studies on fine and gross motor skills of children with childhood apraxia of speech (CAS) have reported inconclusive results. In this study, we investigate the motor abilities of children with CAS by focusing on three distinct motor factors: control during movement, fine motor skills/handwriting, and general coordination. Participants included 25 children with CAS and 20 age-matched typically developing (TD) children between the ages of 5 and 7 years. Motor abilities were evaluated using a parent questionnaire - the Croatian version of The Developmental Coordination Disorder Questionnaire (DCDQ-HR). Compared to age-matched TD children, those with CAS showed significantly poorer overall motor ability based on the DCDQHR, as well as on all three motor factors: control during movement, fine motor skills/handwriting, and general coordination. Even though their results were worse than TD children, they were still within the range that indicates normal motor abilities. Among the three motor factors considered, children with CAS exhibited significant problems with fine motor skills/handwriting. Children with CAS may not be categorised as children with motor deficits, but they exhibit poor overall motor abilities, especially fine motor skills, compared to TD children. This study supports the premise that co-occurring language impairment is an important variable to consider when discussing motor abilities in CAS. [ABSTRACT FROM AUTHOR]

Background: Speech is the most common modality through which language is communicated, and delayed, disordered, or absent speech production is a hallmark of many neurodevelopmental and genetic disorders. Yet, speech is not often carefully phenotyped in neurodevelopmental disorders. In this paper, we argue that such deep phenotyping, defined as phenotyping that is specific to speech production and not conflated with language or cognitive ability, is vital if we are to understand how genetic variations affect the brain regions that are associated with spoken language. Speech is distinct from language, though the two are related behaviorally and share neural substrates. We present a brief taxonomy of developmental speech production disorders, with particular emphasis on the motor speech disorders childhood apraxia of speech (a disorder of motor planning) and childhood dysarthria (a set of disorders of motor execution). We review the history of discoveries concerning the KE family, in whom a hereditary form of communication impairment was identified as childhood apraxia of speech and linked to dysfunction in the FOXP2 gene. The story demonstrates how instrumental deep phenotyping of speech production was in this seminal discovery in the genetics of speech and language. There is considerable overlap between the neural substrates associated with speech production and with FOXP2 expression, suggesting that further genes associated with speech dysfunction will also be expressed in similar brain regions. We then show how a biologically accurate computational model of speech production, in combination with detailed information about speech production in children with developmental disorders, can generate testable hypotheses about the nature, genetics, and neurology of speech disorders. Conclusions: Though speech and language are distinct, specific types of developmental speech disorder are associated with far-reaching effects on verbal communication in children with neurodevelopmental disorders. Therefore, detailed speech phenotyping, in collaboration with experts on pediatric speech development and disorders, can lead us to a new generation of discoveries about how speech development is affected in genetic disorders. [ABSTRACT FROM AUTHOR]

Objectives: The present research aims to identify the assessment and treatment processes used by Iranian Speech-Language Pathologists (SLPs) for Childhood Apraxia of Speech (CAS) and investigate the impact of their knowledge level and experience on their choice of assessment and treatment. Methods: This research is a cross-sectional study using a survey design conducted on 260 SLPs with a minimum of a Bachelor's degree and at least one year of experience of working with preschoolers. The CAS assessment and treatment were measured by a validated questionnaire, which was completed in person or online. Results: The tests of Diadochokinesis (DDK) (66%), single-word speech sampling (58.1%), oral-motor assessment (54.6%), and connected speech sample analysis (53.1%) were the popular tests chosen by the participants. The treatment approaches indicated that Oral Motor Exercises (OMEs) (57.7%) were the only treatment for which over half of the participants voted. The experts chose phonologically-based treatments and Integrated Phonological Awareness (IPA), but the less-experienced participants were more interested in PROMPT (prompts for restructuring oral muscular phonetic targets). The majority of the participants (70.8%) believed that children with CAS make very slow progress and 21.9% declared that speech problems of such children persist through the school years. Discussion: The participants' choice of assessment tasks is in line with the results of recent studies. However, opting for outdated treatments such as OME indicates a gap between the clinicians' knowledge and experience in using evidence-based treatments [ABSTRACT FROM AUTHOR]

Background: Childhood apraxia of speech (CAS) is a neurological pediatric speech sound disorder, in which the precision and consistency of movements underlying speech are impaired in the absence of neuromuscular deficits. It is a common comorbidity in autism spectrum disorder (ASD) and requires detailed analysis to identify the typical errors in speech. Clinical Description: A 25-month-old boy presented with speech delay. The evaluation revealed an impaired absence of meaningful speech, impaired nonverbal communication and social skills, repetitive atypical behavior, and sensory issues with normal hearing. Although autism was suspected, the diagnosis could not be established, and intervention was started based on strengths and weaknesses. There was minimal improvement and discordance between receptive and expressive language was noted. Manifestations evolved over 15 months until a diagnosis of ASD was established by standard protocol. CAS was diagnosed at almost 4 years when a few meaningful words had developed and errors in oral movements, articulation, and phonological development were identified. Management and Outcome: Initially, the child received multidisciplinary management customized according to the strengths, weaknesses, and needs of the child. There was minimal improvement in communication, social interaction, and overall functioning. Identification of autism and slight changes in intervention did not bring about any remarkable changes. Once CAS was identified, and the focus of management changed there was a remarkable improvement in speech, and mild improvement in other aspects. Conclusion: Nonverbal or minimally verbal children with autism should be evaluated for CAS, especially if there is discordance between expressive and receptive language.

Motor learning principles guide treatment of childhood apraxia of speech (CAS). Previous studies found children to benefit from higher-intensity conditions; however, they did not control for the total amount of therapy time. The aims of the article are to examine the effects of high versus low treatment frequency in intervention for CAS in German-speaking children. An alternating single-subject design with multiple baselines was applied to compare frequent, short sessions with fewer, longer sessions in terms of speech production accuracy in four children with CAS while keeping the total therapy time constant. We administered a version of integral stimulation treatment. Despite inter-individual differences, changes under both treatment conditions showed similar positive trajectories for all four children. Untreated control targets also improved across participants and conditions. Maintenance and generalization to untreated targets were observed two weeks and three months post treatment, independent of treatment intensity. Our results show no significant advantage of more intensive treatment when the total therapy time is held constant. This study contributes to the evidence base for the use of integral stimulation in treating children with CAS, and in particular those who speak languages other than English. [ABSTRACT FROM AUTHOR]

Childhood apraxia of speech (CAS) causes inconstant oromotor production. We investigated the clinical efficacy of repeated urimal test of articulation and phonation (U-TAP) in CAS patients. Twenty-eight children were recruited: 19 with CAS and 9 with functional articulation disorder (FAD). Four age-matched typically developing children were also recruited. U-TAP was performed twice repeatedly, and the error rate of consonant accuracy (CA) was measured. Preschool Receptive-Expressive Language Scale (PRES) was also performed. The mean U-TAP CA showed a significant difference between the three groups, with 42.04% for CAS, 77.92% for FAD, and 99.68% for the normal group (p < 0.05). The mean difference between the two U-TAP CAs was 10.01% for CAS, 0.82% for FAD, and no difference for the normal group, revealing a significant intergroup difference between CAS and FAD (p < 0.05). For the expressive and receptive PRES scores, CAS group showed significantly decreased results compared to FAD and normal group. Only in the CAS group, expressive PRES showed significant decrease rather than receptive PRES score. The CAS group showed a significant difference in the two U-TAP CA compared to the FAD and normal groups. This result implies that repeated U-TAP can be useful for supportive diagnostic tool for CAS by detecting poor reliability of phonation. [ABSTRACT FROM AUTHOR]

Abstract Background Childhood apraxia of speech (CAS) is a speech sound disorder in which the precision and consistency of movements underlying speech are impaired in absence of neuromuscular deficits. It is important to differentiate between language disorders and CAS to avoid misdiagnosis. The objective of this study was to develop a test battery for CAS in order to identify its possible presence in Arabic-speaking children, thus allowing the planning of appropriate therapy programs. The constructed test battery for CAS was administered to 70 monolingual Arabic-speaking Egyptian children including 10 children with suspected CAS, 20 children with phonological disorders, and 40 typically developing children. Participants’ responses were statistically analyzed to assess the validity and reliability, and to evaluate sensitivity and specificity of the test battery. Results Statistically significant differences were found between the three groups as regard all subtotal and total scores of CAS test battery with good validity and reliability of the test. Conclusions The constructed test battery for diagnosis of CAS is a reliable, valid, and sensitive tool that can be used to detect the presence of CAS in Arabic-speaking children and differentiate between it and phonological disorders.

Purpose: Childhood apraxia of speech (CAS) is a communication deficit that impacts a child's overall quality of life, including their academic and social interactions, yet few studies have investigated the impact from the child's perspective. Using The World Health Organization's International Classification of Functioning, Disability, and Health (ICF) framework, we examined the children's and caregivers' perspectives on the impact of CAS on their overall wellbeing., Method: Survey data were collected from 32 child-caregiver dyads for children ages 9-17 years with CAS. Items elicited responses along a 5-point scale to examine the perceived impact of children's speech impairments using the framework, including impact on communication, interpersonal interactions/relationships, and major life events., Result: Results from non-parametric statistical analyses revealed: (a) caregivers reported a significantly greater impact than children across individual ICF domains; (b) child responses were not significantly correlated with their caregiver's responses or with the child's age, gender, or severity indicators; and (c) both caregivers and children indicated the domain of communication was impacted more than other domains., Conclusion: Results suggest a potential disconnect in the perceived impact of CAS between the caregiver and child. Recommendations include facilitating a dialogue between the child-caregiver dyad and considering treatment goals that address wellbeing.

Childhood apraxia of speech (CAS) is a subtype of motor speech disorder usually co-occurring with language impairment. A supramodal processing difficulty, involving executive functions (EFs), might contribute to the cognitive endophenotypes and behavioral manifestations. The present study aimed to profile the EFs in CAS, investigating the relationship between EFs, speech and language severity, and the connectivity of the frontal aslant tract (FAT), a white matter tract involved in both speech and EFs. A total of 30 preschool children with CAS underwent speech, language, and EF assessments and brain MRIs. Their FAT connectivity metrics were compared to those of 30 children without other neurodevelopmental disorders (NoNDs), who also underwent brain MRIs. Alterations in some basic EF components were found. Inhibition and working memory correlated with speech and language severity. Compared to NoND children, a weak, significant reduction in fractional anisotropy (FA) in the left presupplementary motor area (preSMA) FAT component was found. Only speech severity correlated and predicted FA values along with the FAT in both of its components, and visual-spatial working memory moderated the relationship between speech severity and FA in the left SMA. Our study supports the conceptualization of a composite and complex picture of CAS, not limited to the speech core deficit, but also involving high-order cognitive skills.

Phoneme production may be affected by limited speech motor control in Childhood Apraxia of Speech (CAS), with a general instability of acoustic targets across multiple repetitions of speech stimuli. This acoustic and Ultrasound Tongue Imaging (UTI) study shows that increased variability and reduction of contrast in vowel production is found in native Italian speakers with CAS, particularly as far as the height dimension is concerned. The data suggest that vowel production should play a major role in CAS diagnosis and treatment. Moreover, this study shows that a combined acoustic and articulatory approach allows direct observation of lingual dynamics together with an estimation of changes in the acoustic dimension. The two dimensions are shown not to correspond in a straightforward way in the speech of children with CAS, and encourage consideration of articulatory compensation strategies aimed at saving the acoustic identity of vowels. [ABSTRACT FROM AUTHOR]

Although Childhood Apraxia of Speech (CAS) has been extensively investigated in the clinical literature, most of the findings regarding impairments in the production of syllable structure, recorded within this population, have been mainly focused on English. The main purpose of this two-year follow-up case study was, therefore, to examine whether syllable complexity may be considered as a robust indicator in CAS and whether it can explain the persistence of errors and, if so, at what age. This was tested in a boy followed up annually from age 5 to 7 who was administered a narrative task. Data analyses used the Phon program to estimate accuracies of different syllabic structures, phones, singleton and cluster consonants. Overall, the findings suggest that this child experienced difficulty producing syllabic structure commensurately with the level of complexity of the target structures. Notably, the presence of syllable planning/sequencing deficit found in French data clearly supports the hypotheses according to which (a) there is a relationship between the level of complexity of syllabic structures and their simplification and (b) the persistence of errors on the most complex syllables remains, becoming a robust indicator for identifying CAS from other speech disorders. Further cross-language investigations on syllable complexity in CAS are needed to design better assessments and to plan efficient intervention. [ABSTRACT FROM AUTHOR]

Purpose: This study investigated the efficacy of Treatment for Establishing Motor Program Organization (TEMPOSM) in childhood apraxia of speech (CAS). Method: A mixed between- and within-participant design with multiple baselines across participants and behaviors was used to examine acquisition, generalization, and maintenance of skills. TEMPOSM was administered in four one-hour sessions a week over a four-week period for eleven participants (ages 5 to 8), allocated to either an immediate treatment group or a wait-list control group. Acoustic and perceptual variables were measured at baseline, immediate post-treatment, and one-month post-treatment. Results: Children demonstrated significant improvements in specific acoustic measures of segmentation and lexical stress, as well as perceptual measures of fluency, lexical stress, and speech-sound accuracy. Treatment and generalization effects were maintained one-month post-treatment with generalization to untreated stimuli. Conclusion: TEMPOSM was efficacious in improving segmental and suprasegmental impairments in the speech of children with CAS. [ABSTRACT FROM AUTHOR]

Purpose: This study investigated the efficacy of Treatment for Establishing Motor Program Organization (TEMPOSM) in childhood apraxia of speech (CAS). Method: A mixed between- and within-participant design with multiple baselines across participants and behaviors was used to examine acquisition, generalization, and maintenance of skills. TEMPOSM was administered in four one-hour sessions a week over a four-week period for eleven participants (ages 5 to 8), allocated to either an immediate treatment group or a wait-list control group. Acoustic and perceptual variables were measured at baseline, immediate post-treatment, and one-month post-treatment. Results: Children demonstrated significant improvements in specific acoustic measures of segmentation and lexical stress, as well as perceptual measures of fluency, lexical stress, and speech-sound accuracy. Treatment and generalization effects were maintained one-month post-treatment with generalization to untreated stimuli. Conclusion: TEMPOSM was efficacious in improving segmental and suprasegmental impairments in the speech of children with CAS. [ABSTRACT FROM AUTHOR]

Background: Oro‐facial dysfunctions (OFDs; oro‐facial myofunctional disorders) in children and childhood apraxia of speech (CAS) often cause severe problems in articulation, chewing, swallowing and oral posture. Objectives: Pathognomonic symptoms could yet not be identified, but central problems in planning, programming, timing and automating oro‐facial, as well as other fine motor skills, are assumed to be affected. Methods: To investigate the nature of motor and coordinative deficits in OFD and CAS, digitomotography was applied. The testing focused on recording frequency, force, rhythm and regularity of the index finger including speeded and metronome tapping tasks. 25 children with OFD (7 girls and 18 boys, age 7.9 ± 2.3) and 5 children with CAS (0 girls and 5 boys, age 7.6 ± 2.3), and 31 healthy controls (12 girls and 19 boys, age 9.3 ± 2.2) were tested. Statistical significance was accepted at α = 0.05. ANOVA test, non‐parametric Mann‐Whitney U test, Kruskal‐Wallis test and Spearman's rank correlation coefficient were used. Results: Cross‐sectional data revealed consistent significant differences between children with OFD and healthy controls concerning frequency, force, rhythm and regularity of index finger tapping. Individuals with CAS showed particularly low results. Tapping results correlated with disease burden. Conclusion: These findings support that underlying superordinated sensorimotor deficits exist. This may help phenotyping and influence diagnostical and therapeutical approaches. [ABSTRACT FROM AUTHOR]