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Background Up to 80% of individuals with unrepaired submucous cleft palate (SMCP) experience speech difficulties secondary to velopharyngeal insufficiency. Language delays are reported in the broader cleft lip and/or palate population, suggesting that individuals with SMCP may also be at risk. However, contemporary understanding of this population remains limited as there has been no systematic examination of the literature. This review aims to systematically review and document the speech and language characteristics of individuals with nonsyndromic SMCP and, in addition, to identify factors reported to impact speech and language outcomes. Method This review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Five databases were comprehensively searched using keywords and indexed headings. Included studies had to report speech or language outcomes of individuals with nonsyndromic SMCP. Risk of bias and methodological design quality were examined using tools from the Scottish Intercollegiate Guidelines Network. Relevant data were extracted for analysis. Results Eighteen studies met inclusion criteria, yielding 598 participants. Study results showed that individuals with unrepaired nonsyndromic SMCP may have speech difficulties secondary to velopharyngeal insufficiency including increased nasal resonance and palatalized or glottal articulation. Lower age at primary surgical repair led to better postsurgical speech outcomes. There is a paucity of literature outlining motor or phonological aspects of speech and receptive or expressive language abilities of this population. Conclusion Individuals with nonsyndromic SMCP present with speech difficulties similar to those experienced by individuals with overt cleft palate. Health care professionals should be aware of possible presenting symptoms and consider early SMCP diagnoses where appropriate. Further research is needed to specify the broader communication profile in this population.

Developmental language disorder (DLD) and speech sound disorder (SSD) are common, and although scientific evidence for structural and functional alterations in DLD/SSD is accumulating, current neuroimaging studies provide an incongruent picture. Here, we hypothesized that children affected by DLD and SSD present with gray matter (or gray matter asymmetry) aberrations in brain areas associated with language processing compared to typically developing (TD) children. To assess this hypothesis, we enhanced MRI-based information with microscopically defined cytoarchitectonic probabilities of Broca's area (BA 45, BA 44) as well as an auditory area (TE 3.0). We detected a larger rightward gray matter asymmetry in BA 45 in children with DLD (n = 13) and with SSD (n = 18) compared to TD children (n = 18), albeit only on a trend level. Interestingly though, we observed significantly larger gray matter volumes in right BA 45 in DLD compared to SSD children (and also compared to TD children).

Background Research investigating language skills in school-aged children with non-syndromic cleft lip and/or palate is sparse. Past studies focus on younger populations, lack key comparisons to demographically matched control cohorts or explore language as a component of broader academic skills. Trends of existing studies suggest that affected children may perform at a lower level compared with typically developing peers. Aims To examine the receptive and expressive language skills of middle-school-aged children with non-syndromic cleft lip and palate (CLP) and cleft palate only (CP). Additionally, to explore the language skills of children with clefts compared with a non-cleft control group. Methods & procedures Thirty-seven participants with orofacial clefts (aged 7;1-14;1 years) participated in the study: 19 with CLP (10 males; 9 females) and 18 with CP (8 males; 10 females). A non-cleft comparison group consisted of 129 individuals matched on age, sex and maternal education level. Participants completed formal language (Clinical Evaluation of Language Fundamentals, Fourth Edition) and non-verbal intellectual measurements (Wechsler Abbreviated Scale of Intelligence-WASI). Demographic and developmental information was obtained via parental interview. Further clinical details (e.g., surgery; hearing status) were extracted from patient medical files. Cleft and non-cleft language and non-verbal IQ outcomes were reported separately. Language outcomes were then compared between groups. Outcomes & results Participants with clefts achieved core (mean = 103.31, standard deviation (SD) = 10.31), receptive (mean = 102.51, SD = 11.60) and expressive (mean = 102.89, SD = 12.17) language index scores within the normative average range. A total of 14.1% and 17.8% of the cleft and non-cleft groups respectively had impairment (i.e., ≥ 1.25 SD below the mean) in one or more language domains. No significant differences were found in the three language index scores between cleft and non-cleft groups. Conclusions & implications This study is the first formally to examine language skills alongside non-verbal IQ in school-aged children with clefts compared with a large matched non-cleft population. Results suggest that health professionals should evaluate each child as they present and not assume that a child with non-syndromic CLP or CP will also have co-occurring language difficulties. Where language falls in the average range, these skills can be harnessed to support areas of difficulty often associated with orofacial clefting, such as speech.

International audience; Genetic investigations of people with impaired development of spoken language provide windows into key aspects of human biology. Over 15 years after FOXP2 was identified, most speech and language impairments remain unexplained at the molecular level. We sequenced whole genomes of nineteen unrelated individuals diagnosed with childhood apraxia of speech, a rare disorder enriched for causative mutations of large effect. Where DNA was available from unaffected parents, we discovered de novo mutations, implicating genes, including CHD3, SETD1A and WDR5. In other probands, we identified novel loss-of-function variants affecting KAT6A, SETBP1, ZFHX4, TNRC6B and MKL2, regulatory genes with links to neurodevelopment. Several of the new candidates interact with each other or with known speech-related genes. Moreover, they show significant clustering within a single co-expression module of genes highly expressed during early human brain development. This study highlights gene regulatory pathways in the developing brain that may contribute to acquisition of proficient speech.

Communication disorder is common in Koolen de Vries syndrome (KdVS), yet its specific symptomatology has not been examined, limiting prognostic counselling and application of targeted therapies. Here we examine the communication phenotype associated with KdVS. Twenty-nine participants (12 males, 4 with KANSL1 variants, 25 with 17q21.31 microdeletion), aged 1.0–27.0 years were assessed for oral-motor, speech, language, literacy, and social functioning. Early history included hypotonia and feeding difficulties. Speech and language development was delayed and atypical from onset of first words (2; 5–3; 5 years of age on average). Speech was characterised by apraxia (100%) and dysarthria (93%), with stuttering in some (17%). Speech therapy and multi-modal communication (e.g., sign-language) was critical in preschool. Receptive and expressive language abilities were typically commensurate (79%), both being severely affected relative to peers. Children were sociable with a desire to communicate, although some (36%) had pragmatic impairments in domains, where higher-level language was required. A common phenotype was identified, including an overriding ‘double hit’ of oral hypotonia and apraxia in infancy and preschool, associated with severely delayed speech development. Remarkably however, speech prognosis was positive; apraxia resolved, and although dysarthria persisted, children were intelligible by mid-to-late childhood. In contrast, language and literacy deficits persisted, and pragmatic deficits were apparent. Children with KdVS require early, intensive, speech motor and language therapy, with targeted literacy and social language interventions as developmentally appropriate. Greater understanding of the linguistic phenotype may help unravel the relevance of KANSL1 to child speech and language development.

Traumatic brain injury (TBI) can reduce psychosocial functioning, causing relationship, family, and employment difficulties. The present study by Moving Ahead: Centre for Research Excellence (CRE) in Brain Recovery aimed to identify a set of adult outcome instruments for moderate-to-severe TBI psychosocial research.A review of 115 instruments (identified through nomination, literature search, and international expert opinion) was conducted over a 15-month period. Eleven psychosocial areas were examined: Global Outcome, Communication, Social Cognition, Behavioural and Executive Function, Other Neuropsychological Functioning, Psychological Status, TBI-related Symptoms, Activities and Participation, Support and Relationships, Sense of Self, and Health-related Quality of Life. Individual instruments were considered against selection guidelines, and specific measures that best met the guidelines were identified as core (common across all studies), supplemental (dependent on study type) or emerging.The final recommendations, organised in accordance with the World Health Organisation's International Classification of Functioning taxonomy, comprised 56 instruments for use in early recovery, outcome, and intervention studies.These recommendations provide a coherent framework along with identified outcome instruments to guide psychosocial research in moderate-to-severe TBI. Adherence to the recommendations will enable data-pooling and comparison across studies and research settings facilitating consistent measurement across the lifespan.

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 (≤ .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. Supplemental Material https://doi.org/10.23641/asha.11368073

We aimed to systematically review the speech production, language, and oral function phenotype of bilateral perisylvian polymicrogyria (BPP), and examine the correlation between the topography of polymicrogyria and the severity of speech, language, and oral functional impairment.A systematic search of MEDLINE, Embase, and PubMed databases was completed on 26th October 2017 using Medical Subject Heading terms synonymous with BPP and speech, language, or oral motor impairment. In total, 2411 papers were identified and 48 met inclusion criteria.Expressive and receptive language impairment and oral structural and functional deficits are frequent in BPP. Expressive deficits are frequently more severe than receptive. Only one study used formal assessments to demonstrate the presence of speech disorder, namely dysarthria. Seven studies reported an association between diffuse BPP and more severe language impairment.Findings confirmed that language deficits are common in BPP, though assessment of the specific speech phenotype is limited. The paucity of high quality studies detailing the specific communication phenotype of BPP highlights the need for further investigation. Improving understanding of this phenotype will inform the development of targeted therapies and lead to better long-term outcomes.Speech, language, and oral functional impairments are common in individuals with bilateral perisylvian polymicrogyria. Posterior polymicrogyria is associated with a less severe language impairment than anterior polymicrogyria. Deeper investigation of speech is needed to understand implicated networks in this malformation.ARTICULACIÓN Y LENGUAJE EN LA POLIMICROGIRIA PERISILVIANA BILATERAL: UNA REVISIÓN SISTEMÁTICA: OBJETIVO: Nuestro objetivo fue revisar sistemáticamente la producción del habla, el lenguaje y el fenotipo de la función oral de la polimicrogiria perisilviana bilateral (BPP) y examinar la correlación entre la topografía de la polimicrogiria y la gravedad del compromiso del habla, el lenguaje y el deterioro funcional oral. MÉTODO: El 26 de octubre de 2017 se completó una búsqueda sistemática de las bases de datos de MEDLINE, EMBASE y PubMed utilizando términos de título de sujeto médico, sinónimos de BPP y discapacidad del habla, lenguaje o motricidad oral. En total, se identificaron 2.411 artículos y 48 cumplieron con los criterios de inclusión. RESULTADOS: El deterioro del lenguaje expresivo y receptivo y los déficits orales estructurales y funcionales son frecuentes en el BPP. Los déficits expresivos son frecuentemente más severos que receptivos. Sólo un estudio utilizó evaluaciones formales para demostrar la presencia de un trastorno del habla, a saber, disartria. Ocho estudios informaron una asociación entre la PAF difusa y el deterioro del lenguaje más grave. INTERPRETACIÓN: Los hallazgos confirmaron que los déficits del lenguaje son comunes en la BPP, aunque la evaluación del fenotipo del habla específico es limitada. La escasez de estudios de alta calidad que detallan el fenotipo de comunicación específico de BPP destaca la necesidad de una mayor investigación. Una mejor comprensión de este fenotipo informará el desarrollo de terapias dirigidas y conducirá a mejores resultados a largo plazo.UMA REVISÃO SISTEMÁTICA: OBJETIVO: Visamos reviser sistematicamente a produção da fala, linguagem e função oral fenótipos da polimicrogiria perisilviana bilateral (PPB), e examinar a correlação entre a topografia da polimicrogiria e a severidade da deficiência de fala, linguagem e função oral. MÉTODO: Uma busca sistemática das bases de dados MEDLINE, EMBASE, e PubMed foi completada em 26 de outubro de 2017 usando termos sinônimos dos Títulos de Assuntos médicos com PPB e fala, linguagem e deficiência motora oral. No total, 241 artigos foram identificados e 48 atenderam aos critérios de inclusão.Deficiências na linguagem expressiva e receptiva e déficits orais estruturais e funcionais são frequentes na PPB. Déficits expressivos são frequentemente mais severos do que os receptivos. Apenas um estudo usou avaliações formais para demonstrar a presença de transtorno da fala, no caso, disartria. Oito estudos reportaram associação entre PPB difusa e deficiência mais severa na linguagem. INTERPRETAÇÃO: Os achados confirmaram que déficits de linguagem são comuns em PPB, embora a avaliação do fenótipo específico da fala seja limitada. A escassez de estudos de alta qualidade detalhando o fenótipo específico da comunicação realça a necessidade de maiores investigações. Melhorar a compreensão deste fenótipo irá informar o desenvolvimento de terapias direcionadas e levará a melhores resultados de longo prazo.

AIM To compare language, speech, and voice of children born preterm and at term, and determine relevant predictors of outcome. METHOD Three hundred infants (150 males, 150 females; 149 born at

In humans, disruption of nonsense-mediated decay (NMD) has been associated with neurodevelopmental disorders (NDDs) such as autism spectrum disorder and intellectual disability. However, the mechanism by which deficient NMD leads to neurodevelopmental dysfunction remains unknown, preventing development of targeted therapies. Here we identified novel protein-coding UPF2 (UP-Frameshift 2) variants in humans with NDD, including speech and language deficits. In parallel, we found that mice lacking Upf2 in the forebrain (Upf2 fb-KO mice) show impaired NMD, memory deficits, abnormal long-term potentiation (LTP), and social and communication deficits. Surprisingly, Upf2 fb-KO mice exhibit elevated expression of immune genes and brain inflammation. More importantly, treatment with two FDA-approved anti-inflammatory drugs reduced brain inflammation, restored LTP and long-term memory, and reversed social and communication deficits. Collectively, our findings indicate that impaired UPF2-dependent NMD leads to neurodevelopmental dysfunction and suggest that anti-inflammatory agents may prove effective for treatment of disorders with impaired NMD.

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. (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. What this paper adds What is already known on this subject Speech issues are common in children with hearing loss; however, the breakdown of subtypes of SSD (e.g., articulation versus phonological disorder) have not been previously described in a population cohort. This distinction is relevant, as each subtype calls for specific targeted intervention. Studies examining factors predictive of speech outcomes, across a range of hearing levels, are also lacking in a population cohort. What this paper adds to existing knowledge Data suggest the most common type of SSD in children with hearing loss is phonological delay. Males, younger children, and bimodal users were at greater risk of having a subtype of SSD. What are the potential or actual clinical implications of this work? The results are clinically pertinent as the speech diagnosis determines the targeted treatment. Phonological delay is responsive to treatment, and early targeted intervention may improve prognosis for speech outcomes 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.

Dodd's Model for Differential Diagnosis is one of the available clinical diagnostic classification systems of childhood speech sound disorders. Yet we do not understand the validity of this system beyond clinical samples, precluding its application in epidemiological or population-based research. This study aimed to determine the prevalence of subgroups of speech sound disorders in a community sample, relative to past clinical samples, in children speaking standard Australian English.We examined speech development in a community-ascertained sample of children at 4 years (n=1607). Inclusion for speech sound disorder was a score of less than or equal to 1 standard deviation on a standardized speech test, and/or research assistant concern, and/or three or more speech errors on sounds typically acquired by 4 years. Dodd's model was then applied to 126 children.Data revealed proportions of children across Dodd's diagnostic subgroups as follows: suspected atypical speech motor control (10%); inconsistent phonological disorder (15%); consistent atypical phonological disorder (20%); phonological delay (55%); and articulation disorder alone (0%). The findings are in line with known prevalence of these subgroups in clinical populations.Our findings provide additional support for speech-language pathologists to use this system in clinical practice for differential diagnosis and targeted intervention of speech sound disorders in children.Dodd's Model for Differential Diagnosis is the first classification system of speech sound disorders to be applicable to both clinical and community cohorts.APLICACIÓN DEL MODELO DE DODD PARA EL DIAGNÓSTICO DIFERENCIAL DE LOS TRASTORNOS DEL SONIDO DEL HABLA INFANTIL: UN ESTUDIO LONGITUDINAL DE COHORTE COMUNITARIO: OBJETIVO: El modelo de Dodd para diagnóstico diferencial es uno de los sistemas de clasificación clínicos disponibles de trastornos del sonido del habla - articulación - infantil. Sin embargo, no comprendemos la validez de este sistema más allá de las muestras clínicas, lo que impide su aplicación epidemiológica o de investigación basada en la población. Este estudio tuvo como objetivo determinar la prevalencia de subgrupos de trastornos del sonido del habla en una muestra de la comunidad, en relación con muestras clínicas pasadas, en niños que hablan inglés australiano estándar. MÉTODO: Examinamos el desarrollo del habla en una muestra de niños determinada en la comunidad en 4 años (n = 1607). La inclusión para el trastorno de sonido del habla fue una puntuación menor o igual a 1 desviación estándar en una prueba de habla estandarizada y / o preocupación del asistente de investigación, y / o tres o más errores de habla en sonidos típicamente adquiridos a los 4 años. El modelo de Dodd se aplicó a 126 niños. RESULTADOS: Los datos revelaron proporciones de niños en los subgrupos de diagnóstico de Dodd de la siguiente manera: sospecha de control del habla atípica (10%); trastorno fonológico inconsistente (15%); trastorno fonológico atípico consistente (20%); retraso fonológico (55%); y trastorno articulación aislado (0%). Los hallazgos concuerdan con la prevalencia conocida de estos subgrupos en poblaciones clínicas. INTERPRETACIÓN: Nuestros hallazgos proporcionan apoyo adicional para fonoaudiologos para usar este sistema, en la práctica clínica, para el diagnóstico diferencial y la intervención dirigida de trastornos de sonido del habla en niños.APLICAÇÃO DO MODELO DE DODD PARA DIAGNÓSTICO DIFERENCIAL DE DESORDENS DA FALA EM CRIANÇA: UM ESTUDO DE COORTE LONGITUDINAL EM UMA COMUNIDADE: OBJETIVO: O Modelo de Dodd para Diagnóstico Diferencial é um dos sistemas de classificação disponíveis para diagnóstico clínico de desordens da fala. Ainda não se conhece a validade destes sistema além de amostras clínica, o que limita sua aplicação em pesquisas epidemiológicas ou populacionais. Este estudo visou determinar a prevalência de subgrupos de desordens da fala em uma amostra de uma comunidade, com relação a amostras clínicas anteriores, em crianças falantes de inglês australiano padrão. MÉTODO: Examinamos o desenvolvimento da fala em uma amostra de crianças com 4 anos de idade (n=1607) pertencentes a uma comunidade. A inclusão para desordem da fala foi um escore menor ou igual a 1 desvio padrão em um teste padronizado de fala, e/ou preocupação pelo pesquisador, e/ou três ou mais erros de pronúncia de sons tipicamente adquiridos até a idade de 4 anos. O modelo de Dodd então foi aplicado a 126 crianças. RESULTADOS: Os dados revelaram proporções de crianças entre os subgrupos diagnósticos de Dodd como: suspeita de controle motor da fala atípico (10%); desordem fonológica inconsistente (15%); desordem fonológica consistente atípica (20%); atraso fonológico (55%) e desordem isolada da articulação (0%). Os achados se alinham com a prevalência conhecida destes subgrupos em populações clínicas. INTERPRETAÇÃO: Nossos achados fornecem suporte adicional para que fonoaudiólogos usem este sistema na prática clínica para o diagnóstico diferencial e intervenção direcionada de desordens da fala em crianças.

Q What is the quality of evidence for speech sound interventions with preschool-aged children?Design: Systematic review (pre-registered with PROSPERO)Data sources: The authors searched 18 databases...

Communication difficulties are a core feature of Phelan-McDermid syndrome (PMS). However, a specific speech and language phenotype has not been delineated, preventing prognostic counselling and development of targeted therapies. We examined speech, language, social and functional communication abilities in 21 individuals with PMS (with SHANK3 involvement), using standardised assessments. Mean age was 9.7 years (SD 4.1) and 57% were female. Deletion size ranged from 41 kb to 8.3 Mb. Nine participants (45%) were non-verbal. Four (19%) had greater verbal ability, speaking in at least 4-5 word sentences, but with speech sound errors. Standard scores for receptive and expressive language were low (typically3 SD below the mean). Language age equivalency was 13-16 months on average (range 2-53 months). There was a significant association between deletion size and the ability to use phrases. Participants with smaller deletion sizes were more likely to be able to use phrases (odds ratio: 0.36, 95% CI: 0.14-0.95, p = 0.040). Adaptive behaviour (life skills) was low in all areas (2 SD below mean). Scores in communication were markedly lower than for daily living (p = 0.008) and socialisation (p 0.001). A common linguistic profile was characterised by severe impairment across receptive, expressive and social language domains. Yet data indicated greater communicative intent than appeared to be capitalised by current therapies. Early implementation of augmentative (e.g. computer-assisted) modes of communication, alongside promotion of oral language, is essential to harness this intent, accelerate language development and reduce frustration. Future trials should examine the added benefit of targeted speech motor interventions in those with greater verbal capacity.

We compared loss and gain in communication from 1 to 2 years in children later diagnosed with autism spectrum disorder (n = 41), language impairment (n = 110) and in children with typical language development at 7 years (n = 831). Participants were selected from a prospective population cohort study of child language (the Early Language in Victoria Study). Parent-completed communication tools were used. As a group, children with autism spectrum disorder demonstrated slower median skill gain, with an increasing gap between trajectories compared to children with typical development and language impairment. A proportion from all groups lost skills in at least one domain (autism spectrum disorder (41%), language impairment (30%), typical development (26%)), with more children with autism spectrum disorder losing skills in more than one domain (autism spectrum disorder (47%), language impairment (15%, p = 0.0003), typical development (16%, p

This review provides a summary and appraisal commentary on the treatment review by Gantasala, S., Sullivan, P.B., & Thomas, A.G. (2013) Gastrostomy feeding versus oral feeding alone for children with cerebral palsy. Cochrane Database of Systematic Reviews, 7. doi:10.1002/14651858.CD003943.pub3Source of funding and disclosure of interests: This work was supported by the National Health and Medical Research Council [grant number 1105008], [grant number 607315].

Confusion has surrounded the description of post-operative mutism and associated morbidity in pediatric patients with cerebellar tumors for years. The heterogeneity of definitions and diagnostic features has hampered research progress within the field, and to date, no international guidelines exist on diagnosis, prevention, treatment, or follow-up of this debilitating condition. An international group of clinicians and researchers from multiple relevant disciplines recently formed a cohesive panel to formulate a new working definition and agree upon standardized methods for diagnosis and follow-up. Consensus was obtained using the modified nominal group technique, involving four rounds of online Delphi questionnaires interspersed with a structured consensus conference with lectures, group work, and open discussion sessions. A new, proposed definition of “post-operative pediatric CMS” was formed, preliminary recommendations for diagnostic and follow-up procedures were created, two working groups on a new scoring scale and risk prediction and prevention were established, and areas were identified where further information is needed. The consensus process was motivated by desire to further research and improve quality of life for pediatric brain tumor patients. The Delphi rounds identified relevant topics and established basic agreement, while face-to-face engagement helped resolve matters of conflict and refine terminology. The new definition is intended to provide a more solid foundation for future clinical and research work. It is thought as a consensus for moving forward and hopefully paves the way to developing a standard approach to this challenging problem with the advent of better scoring methods and ultimate goal of reducing the risk of CMS.

Purpose To investigate the latent factors underlying signs of childhood apraxia of speech (CAS) in a group of 57 children with CAS. Method The speech of 57 children with CAS (aged 3;5–17;0) was coded for signs of CAS. All participants showed at least five signs of CAS and were judged to have CAS by speech pathologists experienced in pediatric speech disorders. Participants were selected to represent a range of severity of CAS: 30 children were verbal and 27 were minimally verbal with comorbid autism. Participants’ scores for each sign (the number of times that sign appeared during a child’s speech sample) were converted to z-scores, then entered as variables into an exploratory factor analysis. Models were compared using the Akaike Information Criterion (AIC). Results The three-factor model had the lowest AIC and best fit the data. After oblique rotation, syllable segmentation, slow rate, and stress errors loaded most highly on Factor 1. Groping, addition of phonemes other than schwa, and difficulty with coarticulation loaded most highly on Factor 2. Variable errors loaded most highly on Factor 3. Thus, factors were interpreted as being associated with (1) prosody, (2) coarticulation, and (3) inconsistency. Conclusions Results are consistent with the three consensus criteria for CAS from the American Speech-Language-Hearing Association: Inappropriate prosody, disrupted coarticulatory transitions, and inconsistent errors on repeated tokens. High loading of the syllable segmentation sign on the inappropriate prosody factor also supports the use of a pause-related biomarker for CAS.

Purpose To examine the effectiveness of (i) face to face interventions (ii) models of service delivery and (iii) psychological treatments combined with speech-focused interventions for adults who stutter. Methods Five electronic databases and three clinical trial registries were searched. Systematic reviews, randomised controlled trials (RCTs) and studies that applied an intervention with adults who stutter were included. Pharmaceutical interventions were excluded. Primary outcomes included a measure of stuttering severity. Risk of bias assessment was conducted on included studies and overall quality of the evidence was graded. Results Five RCTS, four registered trials and three systematic reviews met inclusion criteria. Intervention approaches included speech restructuring programs (e.g. Camperdown Program) and transcranial direct current stimulation (tDCS). One study investigated cognitive behaviour therapy (CBT) alongside speech restructuring. Overall, studies were classified low risk of bias and good quality. Speech restructuring was included in all but one study (tDCS study) and had the most evidence i.e. supported by the greatest number of RCTs. On average, stuttering frequency was reduced by 50–57 % using speech restructuring approaches. No study reduced stuttering to the same level as community controls who don’t stutter. The study on tDCS reduced stuttering frequency by 22–27 %. Speech restructuring delivered via telehealth was non-inferior to face-to-face intervention. One study reported CBT was an effective adjunct to speech restructuring interventions. Conclusion Speech restructuring interventions were found to reduce stuttering in adults, however degree and maintenance of fluency varied. The body of evidence surrounding tDCS and psychological interventions is limited. Replication studies should be considered.

Developmental language disorder (DLD) and developmental speech disorder (DSD) are highly prevalent childhood conditions. An impaired ability to repeat nonsense words ("nonword repetition"), is claimed to be a robust behavioural marker for these conditions. Yet how brain function is altered during this task remains poorly understood. Previous research suggests that DLD or DSD may be associated with reduced brain activation in the inferior frontal and posterior temporal regions when compared to controls. However, this research is limited by within and between group variability in age, speech/language phenotype, and comorbidities. Here, we used functional MRI to examine brain activation during nonword repetition. As anticipated, behavioural findings confirmed that the DLD and DSD groups had poorer nonword repetition performance compared to typical controls. In contrast, fMRI revealed no statistically significant differences in brain activation, despite the groups appearing to engage slightly different regions when compared at identical thresholds. Therefore, whilst nonword repetition is a sensitive clinical marker for DLD and DSD, the findings from this study suggest that this task is not a sensitive brain MRI marker for children with these disorders, unlike for individuals with single gene mutations like FOXP2 mutations.

Background Autism spectrum disorder (ASD) has an estimated prevalence of around 1.7% of the population. People with ASD often also have language difficulties, and about 25% to 30% of children with ASD either fail to develop functional language or are minimally verbal. The ability to communicate effectively is an essential life skill, and difficulties with communication can have a range of adverse outcomes, including poorer academic achievement, behavioural difficulties and reduced quality of life. Historically, most studies have investigated communication interventions for ASD in verbal children. We cannot assume the same interventions will work for minimally verbal children with ASD. Objectives To assess the effects of communication interventions for ASD in minimally verbal children. Search methods We searched CENTRAL, MEDLINE and Embase as well as 12 other databases and three trials registers in November 2017. We also checked the reference lists of all included studies and relevant reviews, contacting experts in the field as well as authors of identified studies about other potentially relevant ongoing and unpublished studies. Selection criteria Randomised controlled trials (RCTs) of communication‐focused interventions for children (under 12 years of age) diagnosed with ASD and who are minimally verbal (fewer than 30 functional words or unable to use speech alone to communicate), compared with no treatment, wait‐list control or treatment as usual. Data collection and analysis We used standard Cochrane methodological procedures. Main results This review includes two RCTs (154 children aged 32 months to 11 years) of communication interventions for ASD in minimally verbal children compared with a control group (treatment as usual). One RCT used a verbally based intervention (focused playtime intervention; FPI) administered by parents in the home, whereas the other used an alternative and augmentative communication (AAC) intervention (Picture Exchange Communication System; PECS) administered by teachers in a school setting. The FPI study took place in the USA and included 70 participants (64 boys) aged 32 to 82 months who were minimally verbal and had received a diagnosis of ASD. This intervention focused on developing coordinated toy play between child and parent. Participants received 12 in‐home parent training sessions for 90 minutes per session for 12 weeks, and they were also invited to attend parent advocacy coaching sessions. This study was funded by the National Institute of Child Health and Human Development, the MIND Institute Research Program and a Professional Staff Congress‐City University of New York grant. The PECS study included 84 minimally verbal participants (73 boys) aged 4 to 11 years who had a formal diagnosis of ASD and who were not using PECS beyond phase 1 at baseline. All children attended autism‐specific classes or units, and most classes had a child to adult ratio of 2:1. Teachers and parents received PECS training (two‐day workshop). PECS consultants also conducted six half‐day consultations with each class once per month over five months. This study took place in the UK and was funded by the Three Guineas Trust. Both included studies had high or unclear risk of bias in at least four of the seven 'Risk of bias' categories, with a lack of blinding for participants and personnel being the most problematic area. Using the GRADE approach, we rated the overall quality of the evidence as very low due to risk of bias, imprecision (small sample sizes and wide confidence intervals) and because there was only one trial identified per type of intervention (i.e. verbally based or AAC). Both studies focused primarily on communication outcomes (verbal and non‐verbal). One of the studies also collected information on social communication. The FPI study found no significant improvement in spoken communication, measured using the expressive language domain of the Mullen Scale of Early Learning expressive language, at postintervention. However, this study found that children with lower expressive language at baseline (less than 11.3 months age‐equivalent) improved more than children with better expressive language and that the intervention produced expressive language gains in some children. The PECS study found that children enrolled in the AAC intervention were significantly more likely to use verbal initiations and PECS symbols immediately postintervention; however, gains were not maintained 10 months later. There was no evidence that AAC improved frequency of speech, verbal expressive vocabulary or children's social communication or pragmatic language immediately postintervention. Overall, neither of the interventions (PECS or FPI) resulted in maintained improvements in spoken or non‐verbal communication in most children. Neither study collected information on adverse events, other communication skills, quality of life or behavioural outcomes. Authors' conclusions There is limited evidence that verbally based and ACC interventions improve spoken and non‐verbal communication in minimally verbal children with ASD. A substantial number of studies have investigated communication interventions for minimally verbal children with ASD, yet only two studies met inclusion criteria for this review, and we considered the overall quality of the evidence to be very low. In the study that used an AAC intervention, there were significant gains in frequency of PECS use and verbal and non‐verbal initiations, but not in expressive vocabulary or social communication immediately postintervention. In the study that investigated a verbally based intervention, there were no significant gains in expressive language postintervention, but children with lower expressive language at the beginning of the study improved more than those with better expressive language at baseline. Neither study investigated adverse events, other communication skills, quality of life or behavioural outcomes. Future RCTs that compare two interventions and include a control group will allow us to better understand treatment effects in the context of spontaneous maturation and will allow further comparison of different interventions as well as the investigation of moderating factors.

Psychosocial functioning is compromised following pediatric traumatic brain injury (TBI), with the past few decades witnessing a proliferation of research examining the effect of childhood brain insult on a range of psychosocial outcomes. This paper describes the systematic recommendation of outcome instruments to address psychosocial functioning following pediatric TBI. A total of 65 instruments across 11 psychosocial areas (i.e., Global Outcome, Communication, Social Cognition, Behavioural and Executive Function, Other Neuropsychological Functioning, Psychological Status, TBI-related Symptoms, Activities and Participation, Support and Relationships, Sense of Self, and Health-Related Quality of Life) were reviewed using various assessment methods, including working groups, literature searches, comparisons with selection guidelines, and international expert opinion. Each measure was reviewed for its usefulness across early recovery, intervention, and outcome related studies. 34 instruments were recommended and classified according to the World Health Organization's International Classification of Functioning, Disability and Health taxonomy and categorised by psychosocial area. This compilation provides a common framework to guide the activities of clinicians and researchers in psychosocial rehabilitation. It is anticipated that these will foster a multidisciplinary approach to psychosocial dysfunction to enhance the evaluation, prediction, and improvement of functional outcomes for those with pediatric TBI.

Case history A 5-year-old girl presented with a suspected palatal abnormality, first observed by her general practitioner during a routine examination at 4 years. She had a history of conductive hearing loss on a background of recurrent otitis media, however her hearing had improved since grommet insertion at 4 years and 8 months. Her middle ear dysfunction was thought to be due to abnormal palatal muscles that also control Eustachian tube drainage. No difficulties with breast feeding or nasal regurgitation were reported. She was referred to a cleft specialist team to be assessed by a cleft surgeon, speech language therapist and ear, nose and throat specialist. On oral examination, she presented with a bifid uvula at rest (figure 1).1 2 An overt submucous cleft palate (SMCP) was confirmed through palpation and inspection of her palate during phonation of ‘ahh’ and ‘ah-haa’, which allowed for visualisation of soft palate elevation. Speech assessment revealed typical resonance (ie, no hypernasality) and no nasal air emission or turbulence, the presence of which may typically suggest an SMCP. The patient’s speech was ‘often hard to understand’ however, but this was due to delayed phonology (cognitive-linguistic speech sound processing).3 She also had impaired receptive (understanding) and expressive (talking) language skills on formal standardised language assessment (Clinical Evaluation of Language Fundamentals, Fourth Edition). Surgical intervention was not indicated given the cleft was not functionally impacting her speech (ie, no velopharyngeal insufficiency (VPI)) or eating (ie, no nasal regurgitation during feeding). Surgery aims to improve velopharyngeal functioning by repositioning the levator veli palatini muscle. This child had adequate velopharyngeal functioning despite her striking anatomical presentation, and her speech difficulties were developmental (phonological impairment) rather than structural. Speech therapy is indicated for her delayed phonology and language deficits. VPI symptoms will be monitored for late onset as she continues to grow. This is particularly important as children with palatal anomalies have increased risk of developing VPI when their adenoids atrophy with age.4 5 She will also remain under the care of ear, nose and throat specialists and audiologists to monitor her hearing and middle ear dysfunction. Questions What anatomical features indicate an overt SMCP? A bifid uvula A bifid uvula and palatal notch A zona pellucida and palatal notch A bifid uvula and inverted ‘v’ shape in the soft palate on phonation Any or all of the above What features of communication would indicate VPI and possible surgical intervention? High-pitched or rough sounding voice Speech that is difficult to understand Hyponasality or slurred speech Hypernasality and/or nasal air emission and/or nasal turbulence Limited vocabulary and short sentences

This chapter describes the history of research in Language Disorders (LD) outlining changes in terminology and methodology and focuses on three newer research methodologies: population studies, the characterization of longitudinal change, and neuroimaging. Population studies have identified a clear social gradient in language ability, challenged assumptions about the role of non-verbal skills, and highlighted vulnerabilities in associated developmental domains. The fluidity of pre-school language development and increasing stability in the middle school years has become apparent in longitudinal population analyses and the importance of social disadvantage and the home-learning environment underlined. Neurobiological “differences” between those with and without LD are recognized, however little is known about the developmental pathways or the role of biological and environmental mechanisms in shaping them. Fully describing and understanding the ontogony of LD remains elusive. How environmental, genetic, epigenetic, and neurobiological effects interact and unfold over developmental time and across population samples remain priorities for research.

Objective: The clinical course of childhood apraxia of speech (CAS) is poorly understood. Of the few longitudinal studies in the field, only one has examined adolescent outcomes in speech, language, and literacy. This study is the first to report long-term speech, language, and academic outcomes in an adolescent, Liam, with CAS. Methods: Speech, language, literacy, and academic outcome data were collected, including 3 research-based assessments. Overall, data were available at 17 time points from 3;10 to 15 years. Results: Liam had moderate-to-severe expressive language impairment and poor reading, writing, and spelling up to 10 years. His numeracy was at or above the national average from 8 to 14 years. He made gains in preadolescence, with average expressive language at 11 years and above average reading and writing at 14 years. Nonword reading, reading comprehension, and spelling remained areas of weakness. Receptive language impairment was evident at 13 years, which was an unexpected finding. Conclusion: Findings from single cases can be hypothesis generating but require verification in larger cohorts. This case shows that at least some children with CAS may gain ground in adolescence, relative to same age peers, in expressive language and academic areas such as reading and writing.

Childhood apraxia of speech (CAS) is a rare disorder of childhood that can leave a watermark of the impacts throughout the lifetime. Since being first described in the 1950s, aetiological insights have been limited. At a neurobiological level, clinical MRI scans fail to reveal overt neural anomalies in individual cases with CAS, although quantitative MRI methods have revealed subtle brain anomalies at a group level. Dramatic insights, however, occurred in the past decade from the discovery of genetic pathways underlying the phenotype. Several single genes and copy number-variant conditions are now associated with CAS either in relative isolation, as in the case of FOXP2 variants, or most typically in association with other neurodevelopmental conditions, such as epilepsy, intellectual disability, motor impairment and autism. CAS requires careful differential diagnosis from other childhood speech disorders, but when a severe and persistent diagnosis is confirmed, a genetic aetiology should increasingly be pursued.

BACKGROUND: Childhood apraxia of speech (CAS) affects a child's ability to produce sounds and syllables precisely and consistently, and to produce words and sentences with accuracy and correct speech rhythm. It is a rare condition, affecting only 0.1% of the general population. Consensus has been reached that three core features have diagnostic validity: (1) inconsistent error production on both consonants and vowels across repeated productions of syllables or words; (2) lengthened and impaired coarticulatory transitions between sounds and syllables; and (3) inappropriate prosody (ASHA 2007). A deficit in motor programming or planning is thought to underlie the condition. This means that children know what they would like to say but there is a breakdown in the ability to programme or plan the fine and rapid movements required to accurately produce speech. Children with CAS may also have impairments in one or more of the following areas: non‐speech oral motor function, dysarthria, language, phonological production impairment, phonemic awareness or metalinguistic skills and literacy, or combinations of these. High‐quality evidence from randomised controlled trials (RCTs) is lacking on interventions for CAS. OBJECTIVES: To assess the efficacy of interventions targeting speech and language in children and adolescents with CAS as delivered by speech and language pathologists/therapists. SEARCH METHODS: We searched CENTRAL, MEDLINE, Embase, eight other databases and seven trial registers up to April 2017. We searched the reference lists of included reports and requested information on unpublished trials from authors of published studies and other experts as well as information groups in the areas of speech and language therapy/pathology and linguistics. SELECTION CRITERIA: RCTs and quasi‐RCTs of children aged 3 to 16 years with CAS diagnosed by a speech and language pathologist/therapist, grouped by treatment types. DATA COLLECTION AND ANALYSIS: Two review authors (FL, AM) independently assessed titles and abstracts identified from the searches and obtained full‐text reports of all potentially relevant articles and assessed these for eligibility. The same two authors extracted data and conducted the 'Risk of bias' and GRADE assessments. One review author (EM) tabulated findings from excluded observational studies (Table 1). MAIN RESULTS: This review includes only one RCT, funded by the Australian Research Council; the University of Sydney International Development Fund; Douglas and Lola Douglas Scholarship on Child and Adolescent Health; Nadia Verrall Memorial Scholarship; and a James Kentley Memorial Fellowship. This study recruited 26 children aged 4 to 12 years, with mild to moderate CAS of unknown cause, and compared two interventions: the Nuffield Dyspraxia Programme‐3 (NDP‐3); and the Rapid Syllable Transitions Treatment (ReST). Children were allocated randomly to one of the two treatments. Treatments were delivered intensively in one‐hour sessions, four days a week for three weeks, in a university clinic in Australia. Speech pathology students delivered the treatments in the English language. Outcomes were assessed before therapy, immediately after therapy, at one month and four months post‐therapy. Our review looked at one‐month post‐therapy outcomes only. We judged all core outcome domains to be low risk of bias. We downgraded the quality of the evidence by one level to moderate due to imprecision, given that only one RCT was identified. Both the NDP‐3 and ReST therapies demonstrated improvement at one month post‐treatment. A number of cases in each cohort had recommenced usual treatment by their speech and language pathologist between one month and four months post‐treatment (NDP‐3: 9/13 participants; ReST: 9/13 participants). Hence, maintenance of treatment effects to four months post‐treatment could not be analysed without significant potential bias, and thus this time point was not included for further analysis in this review. There is limited evidence that, when delivered intensively, both the NDP‐3 and ReST may effect improvement in word accuracy in 4‐ to 12‐year‐old children with CAS, measured by the accuracy of production on treated and non‐treated words, speech production consistency and the accuracy of connected speech. The study did not measure functional communication. AUTHORS' CONCLUSIONS: There is limited evidence that, when delivered intensively, both the NDP‐3 and ReST may effect improvement in word accuracy in 4‐ to 12‐year‐old children with CAS, measured by the accuracy of production on treated and non‐treated words, speech production consistency and the accuracy of connected speech. The study did not measure functional communication. No formal analyses were conducted to compare NDP‐3 and ReST by the original study authors, hence one treatment cannot be reliably advocated over the other. We are also unable to say whether either treatment is better than no treatment or treatment as usual. No evidence currently exists to support the effectiveness of other treatments for children aged 4 to 12 years with idiopathic CAS without other comorbid neurodevelopmental disorders. Further RCTs replicating this study would strengthen the evidence base. Similarly, further RCTs are needed of other interventions, in other age ranges and populations with CAS and with co‐occurring disorders.

This study used a prospective community-based sample to describe patterns and predictors of language development from 4 to 7 years in verbal children (IQ ≥ 70) with autism spectrum disorder (ASD; n = 26-27). Children with typical language (TD; n = 858-861) and language impairment (LI; n = 119) were used for comparison. Children with ASD and LI had similar mean language scores that were lower on average than children with TD. Similar proportions across all groups had declining, increasing and stable patterns. Language progressed at a similar rate for all groups, with progress influenced by IQ and language ability at 4 years rather than social communication skills or diagnosis of ASD. These findings inform advice for parents about language prognosis in ASD.

Background Speech and language deficits are frequent in males with Klinefelter syndrome (KS), yet the research base is slim and specific strengths and deficits in communication have not been well characterised. Nor have studies examined communication abilities across a wide age-range from infancy to adolescence. Objective To characterise communication in children and adolescents with KS. Method Twenty-six males, aged 1;1–17;4 years, took part in the study. Oromotor, speech, language, literacy and pragmatic abilities were assessed. Results Communication impairment was seen in 92% of cases (24/26), with salient findings being impairments in social-pragmatic language (15/18; 83%), language-memory (12/15; 80%) and literacy (13/17; 76%). Mild to severe receptive and expressive language deficits were common (16/23; 70%), although performance was varied across linguistic domains of semantics, syntax, and morphology. Oromotor impairment (21/21; 100%) and speech impairments were evident from preschool through to adolescence. Whilst speech was highly intelligible (22/26; 85%), articulation errors (12/26; 46%), phonological delay (12/26; 46%), phonological disorder (5/26; 19%) and dysarthria (2/23 8.7%) were observed. Other atypical, yet mild, speech features were noted such as hyponasality (16/23; 70%). Conclusions Language, literacy and social-pragmatic deficits are common in KS. Data suggested a trend for more notable deficits with age and increasing academic and social demands. We added novel data on the nature of speech production deficits, including persistent phonological errors in a number of cases. Earlier detection and intervention of phonological errors may reduce the risk for later language and literacy challenges and optimise academic, and ultimately social and behavioural difficulties later in life.

Neurexin 1 gene (NRXN1) deletions are associated with several neurodevelopmental disorders. Communication difficulties have been reported, yet no study has examined specific speech and language features of individuals with NRXN1 deletions. Here, we characterized speech and language phenotypes in 21 children (14 families), aged 1.8-17 years, with NRXN1 deletions. Deletions ranged from 74 to 702 kb and consisted mostly of either exons 1-3 or 1-5. Speech sound disorders were frequent (69%), although few were severe. The majority (57%) of children had difficulty with receptive and/or expressive language, although no homogeneous profiles of deficit were seen across semantic, morphological, or grammatical systems. Social language difficulties were seen in over half the sample (53%). All but two individuals with language difficulties also had intellectual disability/developmental delay. Overall, while speech and language difficulties were common, there was substantial heterogeneity in the severity and type of difficulties observed and no striking communication phenotype was seen. Rather, the speech and language deficits are likely part of broader concomitant neurodevelopmental profiles (e.g., intellectual disability, social skill deficits). Nevertheless, given the high rate of affectedness, it is important speech/language development is assessed so interventions can be applied during childhood in a targeted and timely manner.

Background Stuttering and speech sound disorder may co-occur during early childhood, although the exact rate of comorbidity in a community-cohort sample remains unknown. In isolation, both disorders have the potential for long-term negative effects. Comorbidity rates of 16%–46% reported in previous studies were based on parent report, speech-language therapist surveys, case file audits or direct observation studies from clinical samples. Rigorous methodology utilising a prospective, longitudinal community-cohort design is required to support these previous findings. Aims First, to identify the proportion of children with comorbid stuttering and speech sound disorder at 4 years of age drawn from a community-cohort study. Second, to compare demographic and clinical features of this comorbid diagnosis group compared to children with no diagnosis of either disorder, or those with either disorder in isolation. Methods & procedures Participants were drawn from a prospective, longitudinal community cohort study (the Early Language in Victoria Study) at 4 years of age (n = 1607). Demographic and clinical features for comparison were theoretically driven and included: gender, birth history, feeding status, speech and language status, family history of communication difficulties, maternal education, maternal vocabulary, maternal mental health and socioeconomic status. Outcomes & results Of the 160 children diagnosed with stuttering between 2 and 4 years of age, 6.88 % (n = 11) also had a speech sound disorder. Given the small sample size and number of comparisons performed, there was insufficient evidence to rule out that group differences observed were not simply due to chance. Conclusions & implications The prevalence of comorbid stuttering and speech sound disorder was lower in a community cohort compared to that reported in clinical studies. Higher rates reported in clinical samples may be due to increased parental help-seeking behaviour when the two disorders co-occur. Subsequently, these children may present to clinics more frequently. Accurate representation of prevalence allows for population specific research on best practice assessment and intervention. Currently little is known about how best to manage this caseload, therefore more research is required in this area, including the determination of prognostic variables to provide efficient and effective management.

Objective Evidence-based management guidelines for communication and swallowing disorders following pediatric traumatic brain injury (TBI) are scarcely available, potentially resulting in suboptimal outcomes. To improve clinical care of this population, a multidisciplinary guideline development committee was formed to develop evidence-based recommendation (EBR) and consensus-based recommendation (CBR) for the management of speech, language, and swallowing disorders during the first year of recovery. Methods A 3-round Delphi survey was completed by the committee to reach agreement (80% consensus) for the CBRs. Systematic review evidence guided development of EBRs, devised using the National Health and Medical Research Council statement form. Results Altogether, 30 recommendations (5 EBRs and 25 CBRs) were developed to guide management of speech, language, and swallowing disorders, including prediction of these disorders; health team required, optimal timing of assessment; assessment tools; intervention strategies and commencement of treatment; and key information to support parents. Conclusion The developed recommendations provide a basis for the systematic management of communication and swallowing disorders to be refined as new evidence emerges. Key recommendations include screening of children with moderate/severe TBI for these disorders acutely using specified measures. Patients with severe TBI and prolonged ventilation are a particular at-risk group and should be considered for early referral to speech-language pathology to support timely diagnosis and management. No evidence was identified to support an EBR for treatment, highlighting a key area for research.

Children's speech difficulties can be motor (phone misarticulation) or linguistic (impaired knowledge of phonological contrasts and constraints). These two difficulties sometimes co-occur. This paper reports longitudinal data from the Early Language in Victoria Study (ELVS) at 4 and 7 years of age. Of 1494 participants, 93 made non-age appropriate speech errors on standardised assessments at 4 years, and were able to be reassessed at 7 years. At 4 years, 85% of these children only made phonological errors, 14% made both articulation and phonological errors and one child only made articulation errors (a lateral lisp). In total, 8 of 13 children making both articulation and phonological errors at 4 years had resolved by 7 years. Unexpectedly, eight children who had demonstrated articulation of fricatives at 4 years, acquired distorted production of ≥ 50% of occurrences of/s, z/ by 7 years. In total, then, 22 children (24% of children with speech difficulties) made articulatory errors at one or both assessments. Case data for all children are presented. Theoretical and clinical implications are considered.

Some children’s speech impairment resolves spontaneously. Others have persistent problems affecting academic and social development. Identifying early markers that reliably predict long-term outcome would allow better prioritization for preschool intervention. This article evaluates the significance of different types of speech errors, made by 93 four-year-olds in a longitudinal population cohort study, for performance at seven years. At four years, the non-age appropriate speech errors made on standardized assessments were categorized as: phonologically delayed (error patterns typical of younger children); or, some errors atypical of normal development, including consistent errors (e.g. word initial consonant deletion), inconsistent pronunciations of the same word, or lateral distortion of /s, z/). Delayed children, some with occasional interdental /s, z/ articulation errors, were more likely to resolve (67%) than those making atypical errors (35%) by seven years. Qualitative analyses indicated that children making few atypical errors were more likely to resolve, irrespective of total number of errors or whether they received intervention. The findings’ theoretical implications relate to deficits underlying phonological disorders. Clinical implications concern assessment measures and prioritization for intervention.

Background Language difficulties are common in autism spectrum disorder, yet little is known about the prognosis of language in children with autism spectrum disorder. The aim of this study was to systematically review studies reporting language outcomes in individuals with autism spectrum disorder. Method A comprehensive search strategy with a well-established sensitive prognosis filter for Medline, adapted for five other databases, was used. Included studies observed individuals diagnosed with autism spectrum disorder for ≥12 months and had ≥30 participants. Risk of bias was assessed. Results Fifty-four studies (N = 5064) met inclusion criteria. Language outcomes were standardised assessments (n = 35), notation of presence/absence of verbal language (n = 11) or both (n = 8). Age at baseline ranged from 17 months to 26 years, duration of follow-up from 1 to 38 years. Most publications (92%) were rated medium to high risk of bias. In all but one study individuals had below-average scores at baseline and follow-up. However, in most (n = 24/25; 96%) studies reporting standard scores, individuals (aged ≤ 11 years at follow-up) progressed at a comparable rate to age-expected norms or demonstrated some ‘catch up’ over time. Meta-analyses found mean standard scores increased over time in three language domains (composite receptive language, composite expressive language and adaptive language). Nineteen to thirty percent of children aged five years and under gained verbal language. For children aged over five years 5–32% gained verbal language over the course of study. Age, baseline language scores, IQ and length of follow-up did not moderate between study differences in composite language or adaptive language growth or the acquisition of verbal language. Conclusion Despite variability in study methods, findings were consistent, with the majority of studies reporting children under 11 years on average progressed at a comparable rate to age-expected norms or with some ‘catchup’ over time. Implications This review provides synthesised information for families and clinicians on language development over time and on language outcomes for individuals with autism spectrum disorder. Such information can be useful for prognostic counselling and may assist planning around future resources and support needs. This review also makes recommendations regarding methodology for future studies so that prognosis can become more fine-tuned at an individual level.

Very preterm birth is associated with altered white matter microstructure and language difficulties, which may compromise communication, social function and academic achievement, but the relationship between these two factors is unclear. The aim of this study was to explore associations between white matter microstructure and language domains of semantics, grammar and phonological awareness at 7-years of age on a whole-brain level and within the arcuate fasciculus, an important language pathway, in very preterm and term-born children. Language was assessed in 145 very preterm-born (, Highlights • White matter microstructure related to language in very preterm children and controls. • Widespread white matter tracts, including the arcuate fasciculus were involved. • Higher fractional anisotropy and axon density correlated with better language performance. • Lower axial, radial and mean diffusivity related to better semantics, grammar and phonological awareness.

Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speech (CAS). Yet prior findings have been based on a small, potentially biased sample using retrospectively collected data. We examine the prevalence of CAS in a larger cohort of individuals with 16p11.2 deletion using a prospectively designed assessment battery. The broader speech and language phenotype associated with carrying this deletion was also examined. 55 participants with 16p11.2 deletion (47 children, 8 adults) underwent deep phenotyping to test for the presence of CAS and other speech and language diagnoses. Standardized tests of oral motor functioning, speech production, language, and non-verbal IQ were conducted. The majority of children (77%) and half of adults (50%) met criteria for CAS. Other speech outcomes were observed including articulation or phonological errors (i.e., phonetic and cognitive-linguistic errors, respectively), dysarthria (i.e., neuromuscular speech disorder), minimal verbal output, and even typical speech in some. Receptive and expressive language impairment was present in 73% and 70% of children, respectively. Co-occurring neurodevelopmental conditions (e.g., autism) and non-verbal IQ did not correlate with the presence of CAS. Findings indicate that CAS is highly prevalent in children with 16p11.2 deletion with symptoms persisting into adulthood for many. Yet CAS occurs in the context of a broader speech and language profile and other neurobehavioral deficits. Further research will elucidate specific genetic and neural pathways leading to speech and language deficits in individuals with 16p11.2 deletions, resulting in more targeted speech therapies addressing etiological pathways.

Aim To examine the frequency, range, and features of language impairment in a community sample of children with cerebral palsy (CP) aged 5 to 6 years. Method Children with CP born between 2005 and 2007 were identified through the Victorian Cerebral Palsy Register. Eighty-four participants were recruited, representing 48% of the contacted families. The recruited sample was representative of non-participants. Participants completed standardized measures of receptive and expressive language, and non-verbal cognition. Results Language impairment was identified in 61% (51/84) of participants. Twenty-four per cent (20/84) were non-verbal. Co-occurring receptive and expressive language impairment was common (37/84, 44%). Isolated receptive (6/84, 7%) and expressive (4/84, 5%) impairments occurred relatively infrequently. At a group level, verbal and non-verbal participants demonstrated deficits across language subdomains (i.e. semantics, syntax, morphology), rather than in single domains. Cognitive impairment and Gross Motor Function Classification System levels IV and V were associated with higher rates of language impairment (odds ratio [OR] 15.2, 95% confidence interval [CI] 3.2–71.8 and OR 8.5, 95% CI 1.8–40.3 respectively). Only cognition was independently associated with language impairment when both of these factors were considered within a multivariable model. Interpretation Language impairment was common in 5-year-old and 6-year-old children with CP, affecting three out of five children. Participants were impaired across linguistic subdomains indicating a generalized language deficit. Findings suggest most children would benefit from a clinical language assessment. To target services effectively, subgroups of individuals with CP at greatest risk for language impairment need to be identified.

Preschool feeding disorders are common and debilitating and are associated with a range of developmental and medical issues. Parent report allows assessment of feeding in a naturalistic environment over time, with advantages over time-limited, clinic-based observations. However, little is understood about the limitations and advantages of current parent-report measures. We aimed to systematically review the psychometrics and clinometrics of parent-administered feeding questionnaires.Five search engines were used to identify questionnaires that met inclusion criteria, i.e. being norm-or criterion-referenced, child focused, appropriate for preschool children, and measured two or more feeding domains (e.g. dysphagia/oral motor delay, food refusal).In total 3535 abstracts were identified and 215 full-text articles were evaluated. Five questionnaires met the criteria. The Behavioral Pediatrics Feeding Assessment Scale (BPFAS) was the most reliable questionnaire identified, with good test-retest reliability and internal consistency. More predictive and concurrent validity data was available for the BPFAS, the Mealtime Behavior Questionnaire, and the Montreal Children's Hospital Feeding Scale than for other measures.Further research is needed on the psychometric properties of feeding questionnaires used in research and clinical practice. To date, the BPFAS has the most comprehensive reliability and validity data of any parent-administered feeding questionnaire for preschool children.

Speech and language deficits are commonly associated with Kabuki syndrome. Yet little is known regarding the specific symptomatology of these disorders, preventing use of targeted treatment programs. Here we detail speech and language in 16 individuals with Kabuki syndrome (thirteen with KMT2D mutations, one with a KDM6A mutation, and two mutation-negative cases), aged 4-21 years. The most striking speech deficit was dysarthria, characterised by imprecise consonants, harsh vocal quality, hypernasality, reduced rate and stress, and distorted pitch. Oromotor functioning was also impaired. Delayed, rather than disordered, articulation and phonology was common. Both receptive and expressive language abilities were reduced in the majority and deficits were noted across all language sub-domains (i.e., semantics, syntax, morphology, and pragmatics) with no clear differentiation or specific language profile. Individuals with Kabuki syndrome present with a heterogenous pattern of oromotor, speech, and language deficits. This variability fits with the multisystem nature of the disorder, which may encompass neurological, orofacial structural, hearing, and cognitive deficits, any or all of which may contribute to speech or language impairment. Our results suggest that all individuals with Kabuki syndrome have some level of communication deficit, warranting speech pathology involvement in all cases.

Aim The neurobiological contributions of childhood language disorder are not well understood. Yet there is increasing evidence that language disorder is associated with differences in brain structure and/or function in core language regions. A key hypothesis has been that children with language disorder do not show the same degree of leftward asymmetry of these regions as observed in typically developing children. We aimed to systematically review structural and functional magnetic resonance imaging (fMRI) studies to examine brain commonalities and differences between children with language disorder and typically developing controls; and differences in leftward asymmetry between these groups. Method A systematic review was conducted using MeSH terms synonymous with childhood language disorder and brain MRI methods. The search identified 1443 papers, and 18 articles met the criteria and were appraised for level and quality of evidence. Results Atypical brain structure and function was reported within traditionally recognized language regions across studies, including the inferior frontal gyrus, posterior superior temporal gyrus, and caudate nucleus. The direction of difference (e.g. increased/decreased) was variable, however, likely because of differences in language disorder groups examined and magnetic resonance data acquisition and analysis approaches. As regards asymmetry, there was some evidence of reduction of the anticipated structural and functional leftward asymmetry in frontal language regions in language disorder groups. Interpretation Mounting evidence suggests that children with language disorder have atypical brain structure and function within neural regions integral to language. There is limited support for the hypothesis that children with language disorder show a reduction of leftward structural and/or functional asymmetry in frontal language regions. Interpretation is limited, however, by a high degree of variability in language disorder assessment and phenotype, and in magnetic resonance methodologies. A large-scale magnetic resonance study of brain structure and function is required in a well-defined language disorder population cohort, with replication, to provide confirmatory data on the neural correlates of childhood language disorder.

To explore parents' views of the activities and participation of children with cerebral palsy (CP) with a range of communicative abilities and the factors (personal and environmental) that influenced these.Thirteen parents of children with CP aged 4-9 years participated in semi-structured individual interviews. Interviews were recorded, transcribed and analysed thematically. Identified codes and themes were mapped to the domains of the International Classification of Functioning, Disability and Health - Children and Youth Version (ICF-CY).Parents' responses reflected all ICF-CY domains comprising activity, participation and environmental factors. Codes were primarily mapped to the domains learning and applying knowledge, communication, mobility and interpersonal interactions and relationships. Key barriers identified included aspects of parents' own interactions with their child (e.g. not offering choices), unfamiliar people and settings, negative attitudes of others and children's frustration. Facilitators included support received from the child's family and school, being amongst children, having a familiar routine and the child's positive disposition.Despite the barriers experienced, children participated in a range of activities. Parents placed importance on communication and its influence on children's independence, behaviour and relationships. Barriers and facilitators identified highlight aspects of the environment that could be modified through intervention to enhance communication and participation.Children's activities and participation were largely related to early learning tasks (e.g. literacy), communication, mobility and interactions. Intervention aimed at improving activities and participation may address the various child, impairment, social and environment factors identified here as impacting on activities and participation (e.g. the child's personal characteristics, communication and physical impairments, the support and attitudes of others and the familiarity of the environment). Therapists will need to consider (and manage) the potential negative impact communication deficits may have on children's behaviour, independence and social skills which may in turn detrimentally impact on activity and participation.

Speech sound disorder (SSD) is common, yet its neurobiology is poorly understood. Recent studies indicate atypical structural and functional anomalies either in one hemisphere or both hemispheres, which might be accompanied by alterations in inter-hemispheric connectivity. Indeed, abnormalities of the corpus callosum – the main fiber tract connecting the two hemispheres – have been linked to speech and language deficits in associated disorders, such as stuttering, dyslexia, aphasia, etc. However, there is a dearth of studies examining the corpus callosum in SSD. Here, we investigated whether a sample of 18 children with SSD differed in callosal morphology from 18 typically developing children carefully matched for age. Significantly reduced dimensions of the corpus callosum, particularly in the callosal anterior third, were observed in children with SSD. These findings indicating pronounced callosal aberrations in SSD make an important contribution to an understudied field of research and may suggest that SSD is accompanied by atypical lateralization of speech and language function.

ObjectiveTo characterize the organization of speech- and language-related white matter tracts in children with developmental speech and/or language disorders.Study designWe collected magnetic resonance diffusion-weighted imaging data from 41 children, ages 9-11 years, with developmental speech and/or language disorders, and compared them with 45 typically developing controls with the same age range. We used probabilistic tractography of diffusion-weighted imaging to map language (3 segments of arcuate fasciculus, extreme capsule system) and speech motor (corticobulbar) tracts bilaterally. The corticospinal and callosal tracts were used as control regions. We compared the mean fractional anisotropy and diffusivity values between atypical and control groups, covarying for nonverbal IQ. We then examined differences between atypical subgroups: developmental speech disorder (DSD), developmental language disorder, and co-occurring developmental speech and language disorder.ResultsFractional anisotropy in the left corticobulbar tract was lower in the DSD than in the control group. Radial and mean diffusivity were higher in the DSD than the developmental language disorder, co-occurring developmental speech and language disorder, or control groups. There were no group differences for any metrics in the language or control tracts.ConclusionsAtypical development of the left corticobulbar tract may be a neural marker for DSD. This finding is in line with reports of speech disorder after left corticobulbar damage in children and adults with brain injury. By contrast, we found no association between diffusion metrics in language-related tracts in developmental language disorder, and changes for language disorders are likely more complex.

Research investigating language skills in school-aged children with non-syndromic cleft lip and/or palate is sparse. Past studies focus on younger populations, lack key comparisons to demographically matched control cohorts or explore language as a component of broader academic skills. Trends of existing studies suggest that affected children may perform at a lower level compared with typically developing peers.To examine the receptive and expressive language skills of middle-school-aged children with non-syndromic cleft lip and palate (CLP) and cleft palate only (CP). Additionally, to explore the language skills of children with clefts compared with a non-cleft control group.Thirty-seven participants with orofacial clefts (aged 7;1-14;1 years) participated in the study: 19 with CLP (10 males; 9 females) and 18 with CP (8 males; 10 females). A non-cleft comparison group consisted of 129 individuals matched on age, sex and maternal education level. Participants completed formal language (Clinical Evaluation of Language Fundamentals, Fourth Edition) and non-verbal intellectual measurements (Wechsler Abbreviated Scale of Intelligence-WASI). Demographic and developmental information was obtained via parental interview. Further clinical details (e.g., surgery; hearing status) were extracted from patient medical files. Cleft and non-cleft language and non-verbal IQ outcomes were reported separately. Language outcomes were then compared between groups.Participants with clefts achieved core (mean = 103.31, standard deviation (SD) = 10.31), receptive (mean = 102.51, SD = 11.60) and expressive (mean = 102.89, SD = 12.17) language index scores within the normative average range. A total of 14.1% and 17.8% of the cleft and non-cleft groups respectively had impairment (i.e., ≥ 1.25 SD below the mean) in one or more language domains. No significant differences were found in the three language index scores between cleft and non-cleft groups.This study is the first formally to examine language skills alongside non-verbal IQ in school-aged children with clefts compared with a large matched non-cleft population. Results suggest that health professionals should evaluate each child as they present and not assume that a child with non-syndromic CLP or CP will also have co-occurring language difficulties. Where language falls in the average range, these skills can be harnessed to support areas of difficulty often associated with orofacial clefting, such as speech.

Children who survive brain tumour are a growing population, and are increasingly seen in clinical caseloads worldwide. However, cure often comes at a cost, with devastating neurocognitive and communicative sequelae commonly seen in children across the course of development. The impact of tumour and treatment-related variables on the development and acquisition of neurocognitive and communicative skills is considerable, and includes the direct effect of a tumour located in the supratentorial and infratentorial regions, raised intracranial pressure, treatment effects from surgical intervention, radiotherapy, and/or chemotherapy, and other risk factors. Pragmatic abilities and social competence are commonly disrupted in childhood brain tumour (CBT), with devastating effects on quality of life. This chapter addresses the key social skills and constructs of social ability associated with CBT in addition to the primary mechanisms underpinning pragmatic deficits in CBT. Management of pragmatic deficits associated with CBT requires an integrated approach to assessment, treatment, and long-term surveillance. It is also important that these children are not ‘lost’ to services considered essential to ensuring improvements in social functioning and pragmatic competence. These approaches to assessment and intervention are outlined.