Considerations for identifying subtypes of speech sound disorder.

BACKGROUND: 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. AIMS: To study the distinct underlying processes that differentiate phonological processing, phonological planning or motor planning deficits. METHOD: The literature on the nature of SSDs is reviewed to reveal diagnostic signs at the level of distal causes, proximal factors and surface characteristics. MAIN CONTRIBUTION: 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. CONCLUSIONS & IMPLICATIONS: 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. WHAT THIS PAPER ADDS: What is already known on the subject 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). What this paper adds to the existing knowledge 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. What are the potential or actual clinical implications of this work? 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.

Caregiver and child perspectives of wellbeing in school-age children with childhood apraxia of speech.

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.

A systematic scoping review of the literacy skills of children with childhood apraxia of speech: Recommendations for best practice and further research.

PURPOSE: 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. METHOD: Nine databases were searched to identify relevant articles. Included articles were categorised by study design, quality, and confidence of CAS diagnosis. RESULT: 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. CONCLUSIONS: 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.

A single case experimental design study using an operationalised version of the Kaufman Speech to Language Protocol for children with childhood apraxia of speech.

PURPOSE: 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. METHOD: 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. RESULT: 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. CONCLUSION: 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.

The PraxiFala Battery: A diagnostic accuracy study.

PURPOSE: To present the sensitivity and specificity and establish cutoff points (receiver operating characteristic [ROC] curve) for the PraxiFala Battery. METHOD: 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. RESULT: 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. CONCLUSION: The verbal, nonverbal, and diadochokinetic tasks in the PraxiFala Battery had good sensitivity and specificity.

How to cut the pie is no piece of cake: Toward a process-oriented approach to assessment and diagnosis of speech sound disorders.

BACKGROUND: '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. AIMS: 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. MAIN CONTRIBUTION: 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. CONCLUSION: 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. WHAT THIS PAPER ADDS: What is already known on the subject 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. What this paper adds to existing knowledge 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. What are the potential or actual clinical implications of this work? 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.

Dose frequency randomized controlled trial for Dynamic Temporal and Tactile Cueing (DTTC) treatment for childhood apraxia of speech: protocol paper.

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.

Review of methods for conducting speech research with minimally verbal individuals with autism spectrum disorder.

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.

Lexical tone perception and production in Cantonese-speaking children with childhood apraxia of speech: a pilot study.

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.

Articulatory and segmental performance in children with and without speech disorder: A multiple case pilot study.

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.

"I still have issues with pronunciation of words": A mixed methods investigation of the psychosocial and speech effects of Childhood Apraxia of Speech in adults.

PURPOSE: 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. METHOD: 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. RESULT: 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. CONCLUSION: 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.

Early diagnostic indicators of childhood apraxia of speech in young children with 7q11.23 duplication syndrome: preliminary findings.

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.

Music and musical elements in the treatment of childhood speech sound disorders: A systematic review of the literature.

PURPOSE: 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. METHOD: 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. RESULT: 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. CONCLUSION: 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.

The Use of Segmental and Suprasegmental Sequencing Skills to Differentiate Children With and Without Childhood Apraxia of Speech: Protocol for a Comparative Accuracy Study.

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. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/40465.

Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices.

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.

The importance of deep speech phenotyping for neurodevelopmental and genetic disorders: a conceptual review.

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.

Differences and Commonalities in Children with Childhood Apraxia of Speech and Comorbid Neurodevelopmental Disorders: A Multidimensional Perspective.

Childhood apraxia of speech (CAS) is a motor speech disorder often co-occurring with language impairment and complex neurodevelopmental disorders. A cohort of 106 children with CAS associated to other neurodevelopmental disorders underwent a multidimensional investigation of speech and language profiles, chromosome microarray analysis and structural brain magnetic resonance (MR). Our aim was to compare the clinical profiles of children with CAS co-occurring with only language impairment with those who, in addition to language impairment, had other neurodevelopmental disorders. Expressive grammar was impaired in the majority of the sample in the context of similar alterations of speech, typical of the core symptoms of CAS. Moreover, children with complex comorbidities also showed more severe and persistent receptive language deficits. About 25% of the participants harbored copy number variations (CNVs) already described in association to neurodevelopmental disorders. CNVs occurred more frequently in children with complex comorbidities. MR structural/signal alterations were found in a small number of children and were of uncertain pathogenic significance. These results confirm that CAS needs multidimensional diagnostic and clinical management. The high frequency of language impairment has important implications for early care and demands a personalized treatment approach in which speech and language goals are consistently integrated.

A survey of the clinical management of childhood apraxia of speech in the United States and Canada.

PURPOSE: Limited information is available about the current practices of generalist speech-language pathologists (SLPs) in relation to their management of childhood apraxia of speech (CAS). This study was designed to investigate four primary questions separately for the US and Canada; 1. What treatment approaches are used by SLP clinicians to treat CAS? 2. What treatment format and intensity are used to deliver CAS treatment? 3. What are the attitudes and perspectives of SLPs to evidence-based practice (EBP) as it pertains to CAS treatment? and 4. What are the perceived barriers to the implementation of EBP in CAS treatment? METHOD: An online questionnaire was used to investigate the four primary research questions. The questionnaire was distributed online through social media, some state-based associations and through forums affiliated with national speech-language-hearing associations. RESULTS: Most survey respondents reported frequently using an eclectic approach to treat CAS (US 85%; Canada 89%). Although no intervention emerged as the most preferred primary treatment for CAS, US-based clinicians more commonly reported using the Kaufman Speech to Language Protocol (K-SLP) (33%) and Dynamic, Temporal and Tactile Cueing (DTTC) (28%); while clinicians in Canada used PROMPT ® (31%). SLPs demonstrated a positive attitude towards EBP however, they identified a range of perceived barriers that impacted their implementation of EBP. CONCLUSION: SLPs in the US and Canada frequently used an eclectic approach to treat CAS which is consistent with previous findings both in the CAS literature and the wider speech disorders literature. The more commonly used primary interventions were the K-SLP and DTTC (US); and PROMPT ® (Canada), with one of the strongest factors that influenced clinicians' choice of intervention being familiarity with the treatment approach. Face to face therapy was preferred by clinicians across both countries, with clinicians in the US providing therapy between 2-5 times per week, while those in Canada delivered therapy up to once per week. Clinicians identified a number of barriers to implementing evidence-based practice, among which, being time poor was most commonly selected across clinicians in both the US and Canada.

Implicit learning in children with Childhood Apraxia of Speech.

BACKGROUND: Childhood Apraxia of Speech is a severe and persistent clinical subtype of Speech Sound Disorder. Given the difficulties in the acquisition, programming and control of the movements underlying speech and the slowdown in a wide range of non-linguistic skills, the difficulty in implicit learning of sequential information could play a role in the disorder, contributing to understand its etiopathological mechanisms and behavioral manifestations. AIMS: The present study was aimed at investigating implicit learning in children with Childhood Apraxia of Speech. METHODS AND PROCEDURES: Twenty-five children with Childhood Apraxia of Speech, aged between 4 and 12 years, were matched for IQ and age to a control group of 25 typically developing children. Implicit learning of participants was assessed by Serial Reaction Time Task. OUTCOME AND RESULTS: Children with Childhood Apraxia of Speech did not show implicit learning, as documented by the absence of differences between reaction times in the sequenced block and the random block, usually considered as a measure of implicit learning effect. CONCLUSION AND IMPLICATIONS: Our results underline an implicit learning deficit in children with Childhood Apraxia of Speech, supporting the concept of a disorder not only confined to the speech domain, but also involving non-linguistic skills, in a composite and complex picture.