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ImportanceCerebral palsy (CP) is the most common childhood physical disability. Early intervention for children younger than 2 years with or at risk of CP is critical. Now that an evidence-based guideline for early accurate diagnosis of CP exists, there is a need to summarize effective, CP-specific early intervention and conduct new trials that harness plasticity to improve function and increase participation. Our recommendations apply primarily to children at high risk of CP or with a diagnosis of CP, aged 0 to 2 years.ObjectiveTo systematically review the best available evidence about CP-specific early interventions across 9 domains promoting motor function, cognitive skills, communication, eating and drinking, vision, sleep, managing muscle tone, musculoskeletal health, and parental support.Evidence reviewThe literature was systematically searched for the best available evidence for intervention for children aged 0 to 2 years at high risk of or with CP. Databases included CINAHL, Cochrane, Embase, MEDLINE, PsycInfo, and Scopus. Systematic reviews and randomized clinical trials (RCTs) were appraised by A Measurement Tool to Assess Systematic Reviews (AMSTAR) or Cochrane Risk of Bias tools. Recommendations were formed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) framework and reported according to the Appraisal of Guidelines, Research, and Evaluation (AGREE) II instrument.FindingsSixteen systematic reviews and 27 RCTs met inclusion criteria. Quality varied. Three best-practice principles were supported for the 9 domains: (1) immediate referral for intervention after a diagnosis of high risk of CP, (2) building parental capacity for attachment, and (3) parental goal-setting at the commencement of intervention. Twenty-eight recommendations (24 for and 4 against) specific to the 9 domains are supported with key evidence: motor function (4 recommendations), cognitive skills (2), communication (7), eating and drinking (2), vision (4), sleep (7), tone (1), musculoskeletal health (2), and parent support (5).Conclusions and relevanceWhen a child meets the criteria of high risk of CP, intervention should start as soon as possible. Parents want an early diagnosis and treatment and support implementation as soon as possible. Early intervention builds on a critical developmental time for plasticity of developing systems. Referrals for intervention across the 9 domains should be specific as per recommendations in this guideline.

Background: Identifying language disorders earlier can help children receive the support needed to improve developmental outcomes and quality of life. Despite the prevalence and impacts of persistent language disorder, there are surprisingly no robust predictor tools available. This makes it difficult for researchers to recruit young children into early intervention trials, which in turn impedes advances in providing effective early interventions to children who need it. Aims: To validate externally a predictor set of six variables previously identified to be predictive of language at 11 years of age, using data from the Longitudinal Study of Australian Children (LSAC) birth cohort. Also, to examine whether additional LSAC variables arose as predictive of language outcome. Methods & Procedures: A total of 5107 children were recruited to LSAC with developmental measures collected from 0 to 3 years. At 11–12 years, children completed the Clinical Evaluation of Language Fundamentals, 4th Edition, Recalling Sentences subtest. We used SuperLearner to estimate the accuracy of six previously identified parent‐reported variables from ages 2–3 years in predicting low language (sentence recall score ≥ 1.5 SD below the mean) at 11–12 years. Random forests were used to identify any additional variables predictive of language outcome. Outcomes & Results: Complete data were available for 523 participants (52.20% girls), 27 (5.16%) of whom had a low language score. The six predictors yielded fair accuracy: 78% sensitivity (95% confidence interval (CI) = [58, 91]) and 71% specificity (95% CI = [67, 75]). These predictors relate to sentence complexity, vocabulary and behaviour. The random forests analysis identified similar predictors. Conclusions & Implications: We identified an ultra‐short set of variables that predicts 11–12‐year language outcome with 'fair' accuracy. In one of few replication studies of this scale in the field, these methods have now been conducted across two population‐based cohorts, with consistent results. An imminent practical implication of these findings is using these predictors to aid recruitment into early language intervention studies. Future research can continue to refine the accuracy of early predictors to work towards earlier identification in a clinical context. WHAT THIS PAPER ADDS: What is already known on the subject: There are no robust predictor sets of child language disorder despite its prevalence and far‐reaching impacts. A previous study identified six variables collected at age 2–3 years that predicted 11–12‐year language with 75% sensitivity and 81% specificity, which warranted replication in a separate cohort. What this study adds to the existing knowledge: We used machine learning methods to identify a set of six questions asked at age 2–3 years with ≥ 71% sensitivity and specificity for predicting low language outcome at 11–12 years, now showing consistent results across two large‐scale population‐based cohort studies. What are the potential or clinical implications of this work?: This predictor set is more accurate than existing feasible methods and can be translated into a low‐resource and time‐efficient recruitment tool for early language intervention studies, leading to improved clinical service provision for young children likely to have persisting language difficulties. [ABSTRACT FROM AUTHOR]

Purpose: To our knowledge, there are no data examining the agreement between self-reported and clinician-rated stuttering severity. In the era of big data, self-reported ratings have great potential utility for large-scale data collection, where cost and time preclude in-depth assessment by a clinician. Equally, there is increasing emphasis on the need to recognize an individual's experience of their own condition. Here, we examined the agreement between selfreported stuttering severity compared to clinician ratings during a speech assessment. As a secondary objective, we determined whether self-reported stuttering severity correlated with an individual's subjective impact of stuttering. Method: Speech-language pathologists conducted face-to-face speech assessments with 195 participants (137 males) aged 5-84 years, recruited from a cohort of people with self-reported stuttering. Stuttering severity was rated on a 10-point scale by the participant and by two speech-language pathologists. Participants also completed the Overall Assessment of the Subjective Experience of Stuttering (OASES). Clinician and participant ratings were compared. The association between stuttering severity and the OASES scores was examined. Results: There was a strong positive correlation between speech-language pathologist and participant-reported ratings of stuttering severity. Participantreported stuttering severity correlated weakly with the four OASES domains and with the OASES overall impact score. Conclusions: Participants were able to accurately rate their stuttering severity during a speech assessment using a simple one-item question. This finding indicates that self-report stuttering severity is a suitable method for large-scale data collection. Findings also support the collection of self-report subjective experience data using questionnaires, such as the OASES, which add vital information about the participants' experience of stuttering that is not captured by overt speech severity ratings alone. [ABSTRACT FROM AUTHOR]

To examine predictors and growth in language for verbal autistic and non‐autistic children with/without low language from 4 to 11 years. Receptive and expressive language trajectories were compared in a community sample of 1026 children at ages 5, 7, and 11 years, across four groups: two autistic groups; one with and one without low language; and two non‐autistic groups; one with and one without low language. Groups were delineated on baseline assessment at 4 years. Non‐autistic and autistic children with low language had lower mean expressive language scores than the non‐autistic typical language group (22.26 and 38.53 units lower, respectively, p < 0.001), yet demonstrated faster language growth across 5 to 11 years (p < 0.001 and p = 0.002, respectively). Both groups without low language had similar mean expressive language scores (p = 0.864) and a comparable rate of growth (p = 0.645). Language at 4 years was the only consistent predictor of language at 11 years for autistic children. Results were similar for receptive language in all analyses except there was no significant difference in rate of progress (slope) for the autistic with low language group compared with the typical language group (p = 0.272). Findings suggest early language ability, rather than a diagnosis of autism, is key to determining language growth and outcomes at 11 years in verbal children. Furthermore, children with low language showed developmental acceleration compared with same age peers. Lay Summary: This study compared language growth from 5 to 11 years across four groups of verbal children (autistic and non‐autistic children with or without low language ability). An autism diagnosis did not influence language growth and children (autistic and non‐autistic) who started with lower language showed some acceleration in some areas of language, with the gap between those with and without language delays either keeping parallel or narrowing over time. Language ability at 4 years was the only consistent factor that predicted language outcome at 11 years of age in autistic children. [ABSTRACT FROM AUTHOR]

This article introduces the Journal of Speech, Language, and Hearing Research Special Issue: Selected Papers From the 2022 Apraxia Kids Research Symposium. The field of childhood apraxia of speech (CAS) has developed significantly in the past 15 years, with key improvements in understanding of basic biology including genetics, neuroscience, and computational modelling; development of diagnostic tools and methods; diversity of evidence-based interventions with increasingly rigorous experimental designs; and understanding of impacts beyond impairment-level measures. Papers in this special issue not only review and synthesize the some of the substantial progress to date but also present novel findings addressing critical research gaps and adding to the overall body of knowledge. A second aim of this prologue is to report the current research needs in CAS, which arose from symposium discussions involving researchers, clinicians, and Apraxia Kids community members (including parents of children with CAS). Four primary areas of need emerged from discussions at the symposium. These were: (a) What questions should we ask? (b) Who should be in the research? (c) How do we conduct the research? and (d) How do we move from research to practice? Across themes, symposium attendees emphasized the need for CAS research to better account for the diversity of people with CAS and improve the timeliness of implementation of high-level evidence-based practice across the lifespan. It is our goal that the articles and prologue discussion in this special issue provide an appreciation of advancements in CAS research and an updated view of the most pressing needs for future research. [ABSTRACT FROM AUTHOR]

Purpose: Advancements in genetic testing and analysis have allowed improved identification of the genetic basis of childhood apraxia of speech, a rare speech presentation. This study aimed to understand speech-language pathologists' (SLPs') consideration of incorporation of genetics in clinical practice using a theory-informed qualitative approach. Method: Semistructured interviews were conducted with 12 pediatric SLPs using a behavior change theory (Theoretical Domains Framework [TDF]) within a case study describing a child with complex co-occurring features, including childhood apraxia of speech. Interviews focused on three stages of the patient journey (prereferral, referral, and postreferral). Interviews were analyzed to identify barriers and enablers to considering incorporation of genetics in current clinical practice. Barriers and enablers were grouped and mapped onto a contextually relevant TDF-coded analysis framework. Results: Barriers were identified across several TDF domains, through all stages of the patient journey. Lack of confidence, relevance, and level of experience were most common prereferral, and connection to and awareness of genetics services and contextual factors were barriers in the referral stage. Perception of professional role, knowledge, and beliefs about effects on families were barriers postreferral. Associated enablers were also identified, including seeing value in genetic diagnosis, support from other health care professionals, supervision, and relationships with genetics services. Conclusions: Results of this qualitative study highlight barriers and enablers to incorporating genetics into speech-language pathology clinical practice. These findings will assist in the development of theory-informed implementation strategies to support SLPs into the future. [ABSTRACT FROM AUTHOR]

Purpose: Language difficulties are prevalent among children born preterm. Existing studies have largely used standardized language tests, providing limited scope for detailed descriptive examination of preterm language. This study aimed to examine differences in conversational language between children born < 30 weeks and at term as well as correlations between language sample analysis (LSA) and a standardized language tool. Method: Two hundred four 3-year-olds (103 born < 30 weeks, 101 born at term) recruited at birth provided a 10-min language sample and completed the Preschool Language Scales--Fifth Edition (I. Zimmerman, Steiner, & Pond, 2011). LSA was conducted using the Systematic Analysis of Language Transcripts and Index of Productive Syntax. Group differences were analyzed using linear regression, and Pearson correlation coefficient (coef) was used to determine correlations between measures. Results: Children born < 30 weeks scored lower than term-born peers on multiple metrics when controlled for confounding factors (sex, high social risk, multilingualism, and diagnosed neurodevelopmental disorders), including mean length of utterance in morphemes (coef = -0.28, 95% confidence interval [CI] [-0.56, 0.01]) and words (coef = -0.29, 95% CI [-0.53, -0.05]), number of different word roots (coef = -10.04, 95% CI [-17.93, -2.14]), and Index of Productive Syntax sentence structures (coef = -1.81, 95% CI [-3.10, -0.52]). Other variables (e.g., number of utterances, number of nouns and adjectives) were not significantly different between groups. LSA and the Preschool Language Scales--Fifth Edition were at most moderately correlated (= 0.45). Conclusions: Three-year-old children born preterm demonstrated poorer conversational language than children born at term, with some specific areas of deficit emerging. Furthermore, formal assessment and LSA appear to provide relatively distinct and yet complementary data to guide diagnostic and intervention decisions.

Background: Congenital hearing loss is the most common birth anomaly, typically influencing speech and language development, with potential for later academic, social and employment impacts. Yet, surprisingly, the nuances of how speech is affected have not been well examined with regards to the subtypes of speech-sound disorder (SSD). Nor have the predictors of speech outcome been investigated within a sizeable population cohort. Aims: (1) To describe the subtypes and prevalence of SSD in children with hearing loss; and (2) To determine which characteristics of hearing loss predict the presence of SSD. Methods & Procedures: A total of 90 children (5-12 years of age) with permanent hearing loss were recruited from an Australian population cohort. Children completed a standardized speech assessment to determine the presence and subtype of SSD. Logistic regression was used to determine the predictors of speech outcome. Demographic, developmental and hearing-related predictors were examined. Outcomes & Results: The prevalence of speech disorder overall was 58%, with the most common subtype being phonological delay in 49% of the sample. Factors most predictive of speech disorder were being male, younger and a bimodal user (i.e., using both a hearing aid and a cochlear implant). Conclusions & Implications: This is the first study, in a sizeable cohort, to describe the prevalence and predictive factors for SSD associated with hearing loss. Clinically, it could be beneficial to implement earlier targeted phonological interventions for children with hearing loss.

Few studies have examined growth and predictors of receptive vocabulary in children with autism spectrum disorder. Here we aimed to compare receptive vocabulary from 4 to 8 years and identify predictors of receptive vocabulary, at 8 years, in children with and without autism spectrum disorder. Participants were drawn from a nationally representative population-based study with two cohorts recruited at birth (N = 4983) and kindergarten (N = 5107). Receptive vocabulary growth was compared for children with and without autism spectrum disorder at 4 (n = 188, n = 7136), 6 (n = 215, n = 7297) and 8 (n = 216, n = 7408) years. Predictors of receptive vocabulary were analysed. Estimated mean receptive vocabulary scores for children without autism spectrum disorder were 2.3 units higher than the autism spectrum disorder group across three time points. This difference was significant (p = 0.004; 95% confidence interval 0.769-3.927). Children with and without autism spectrum disorder progressed at a similar pace. There was no significant difference between the proportions of children with and without autism spectrum disorder who had stable, improving and declining trajectories. Age was the only significant predictor of greater receptive vocabulary growth in children with autism spectrum disorder. Baseline receptive language and nonverbal IQ were significant predictors of receptive vocabulary ability at 8 years. These findings inform prognostic advice given to families on language outcomes.

Background: Submucous cleft palate (SMCP) has a heterogeneous presentation and is often identified late or misdiagnosed. Diagnosis is prompted by speech, resonance or feeding symptoms associated with velopharyngeal insufficiency. However, the broader impacts of SMCP on communication have rarely been examined and therefore are poorly understood. Aim: To describe the communicative profile of individuals with non-syndromic SMCP by examining speech, language and pragmatics (social language). Methods & Procedures: Fifteen participants with SMCP aged 5;1-12;8, without a genetic diagnosis, participated in the study. Participants completed standardized assessments examining language, resonance, speech and non-verbal intellect. Parents also completed the Children's Communication Checklist (CCC-2), which provided a measure of overall communicative ability, including pragmatic skills. Formal language outcomes were compared with two cohorts: 36 individuals with overt non-syndromic clefts and 129 individuals with no history of clefting. Outcomes & Results: Speech intelligibility was reduced secondary to hypernasality, disordered articulation and/or impaired phonology (n = 7) in children with SMCP. Poorer overall language outcomes were observed for children with SMCP compared with both those with overt clefts and no history of clefting (p < 0.001). Language scores for children with SMCP ranged from impaired (n = 6) to above the standardized mean (n = 4). Receptive and expressive language performance were independently correlated with non-verbal IQ (p < 0.01). Those with severe language impairment (n = 4) also had borderline or impaired non-verbal IQ. Parents reported that speech and semantics were the most affected sub-domains of communication, while scores were the highest for the initiation domain. Speech and language skills were correlated strongly with pragmatics (r = 0.877, p < 0.01). Conclusions & Implications: Overall, performance was variable within the SMCP group across speech, language and pragmatic assessments. In addition to well-documented speech difficulties, children with SMCP may have language or pragmatic impairments, suggesting that further neurodevelopmental influences may be at play. As such, for individuals with SMCP, additional clinical screening of language and pragmatic abilities may be required to ensure accurate diagnosis and guide both cleft and non-cleft related therapy programmes.

Introduction: Functional magnetic resonance imaging (fMRI) can improve our understanding of neural processes subserving motor speech function. Yet its reproducibility remains unclear. This study aimed to evaluate the reproducibility of fMRI using a word repetition task across two time points. Methods: Imaging data from 14 healthy controls were analysed using a multilevel general linear model. Results: Significant activation was observed during the task in the right hemispheric cerebellar lobules IV-V, right putamen, and bilateral sensorimotor cortices. Activation between timepoints was found to be moderately reproducible across time in the cerebellum but not in other brain regions. Discussion: Preliminary findings highlight the involvement of the cerebellum and connected cerebral regions during a motor speech task. More work is needed to determine the degree of reproducibility of speech fMRI before this could be used as a reliable marker of changes in brain activity. [ABSTRACT FROM AUTHOR]

The disconnected (disco)‐interacting protein 2 (DIP2) gene was first identified in D. melanogaster and contains a DNA methyltransferase‐associated protein 1 (DMAP1) binding domain, Acyl‐CoA synthetase domain and AMP‐binding sites. DIP2 regulates axonal bifurcation of the mushroom body neurons in D. melanogaster and is required for axonal regeneration in the neurons of C. elegans. The DIP2 homologues in vertebrates, Disco‐interacting protein 2 homolog A (DIP2A), Disco‐interacting protein 2 homolog B (DIP2B), and Disco‐interacting protein 2 homolog C (DIP2C), are highly conserved and expressed widely in the central nervous system. Although there is evidence that DIP2C plays a role in cognition, reports of pathogenic variants in these genes are rare and their significance is uncertain. We present 23 individuals with heterozygous DIP2C variants, all manifesting developmental delays that primarily affect expressive language and speech articulation. Eight patients had de novo variants predicting loss‐of‐function in the DIP2C gene, two patients had de novo missense variants, three had paternally inherited loss of function variants and six had maternally inherited loss‐of‐function variants, while inheritance was unknown for four variants. Four patients had cardiac defects (hypertrophic cardiomyopathy, atrial septal defects, and bicuspid aortic valve). Minor facial anomalies were inconsistent but included a high anterior hairline with a long forehead, broad nasal tip, and ear anomalies. Brainspan analysis showed elevated DIP2C expression in the human neocortex at 10–24 weeks after conception. With the cases presented herein, we provide phenotypic and genotypic data supporting the association between loss‐of‐function variants in DIP2C with a neurocognitive phenotype. [ABSTRACT FROM AUTHOR]

Objectives Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention recommendations. We define the speech, language and cognitive phenotypic spectrum in a large cohort of individuals with Kleefstra syndrome. Method 103 individuals with Kleefstra syndrome (40 males, median age 9.5 years, range 1-43 years) with pathogenic variants (52 9q34.3 deletions, 50 intragenic variants, 1 balanced translocation) were included. Speech, language and non-verbal communication were assessed. Cognitive, health and neurodevelopmental data were obtained. Results The cognitive spectrum ranged from average intelligence (12/79, 15%) to severe intellectual disability (12/79, 15%). Language ability also ranged from average intelligence (10/90, 11%) to severe intellectual disability (53/90, 59%). Speech disorders occurred in 48/49 (98%) verbal individuals and even occurred alongside average language and cognition. Developmental regression occurred in 11/80 (14%) individuals across motor, language and psychosocial domains. Communication aids, such as sign and speech-generating devices, were crucial for 61/103 (59%) individuals including those who were minimally verbal, had a speech disorder or following regression. Conclusions The speech, language and cognitive profile of Kleefstra syndrome is broad, ranging from severe impairment to average ability. Genotype and age do not explain the phenotypic variability. Early access to communication aids may improve communication and quality of life. [ABSTRACT FROM AUTHOR]