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ObjectiveTo determine whether specific speech, language, and oromotor profiles are associated with different patterns of polymicrogyria, we assessed 52 patients with polymicrogyria using a battery of standardized tests and correlated findings with topography and severity of polymicrogyria.MethodsPatients were identified via clinical research databases and invited to participate, irrespective of cognitive and verbal language abilities. We conducted standardized assessments of speech, oromotor structure and function, language, and nonverbal IQ. Data were analyzed according to normative assessment data and descriptive statistics. We conducted a correlation analysis between topographic pattern and speech and language findings.ResultsFifty-two patients (33 male, 63%) were studied at an average age of 12.7 years (range 2.5–36 years). All patients had dysarthria, which ranged from mild impairment to anarthria. Developmental speech errors (articulation and phonology), oral motor structure and function deficits, and language disorder were frequent. A total of 23/29 (79%) had cognitive abilities in the low average to extremely low range. In the perisylvian polymicrogyria group (36/52), speech, everyday language, and oral motor impairments were more severe, compared to generalized (1 patient), frontal (3), polymicrogyria with periventricular nodular heterotopia (3), parasagittal parieto-occipital (1), mesial occipital (1), and other (7) patterns.ConclusionsDysarthria is a core feature of polymicrogyria, often accompanied by receptive and expressive language impairments. These features are associated with all polymicrogyria distribution patterns and more severe in individuals with bilateral polymicrogyria, particularly in the perisylvian region.

Heterozygous pathogenic WAC variants cause Desanto-Shinawi syndrome; affected patients have dysmorphic features, developmental impairment and behavioral abnormalities. Seizures are reported in one quarter, including tonic-clonic, absence, and febrile seizures. This study aimed to better understand the phenotypic spectrum of epilepsy and development in Desanto-Shinawi syndrome. We identified four children with seizures and pathogenic WAC variants, including two siblings. All had global developmental impairment with language affected most severely; two had diagnoses of childhood apraxia of speech and two had autism spectrum disorder. Seizure onset age ranged from six months to 14 years. Seizures always occurred from sleep and were focal impaired awareness with motor features in three patients, with one having bilateral tonic-clonic seizures of suspected focal onset. Two patients had spontaneous seizure resolution without treatment, and the remaining two were well-controlled on monotherapy. EEG was normal in two patients; one had focal right frontal spikes in drowsiness and sleep while the last had independent centrotemporal spikes from both hemispheres, activated in sleep. All patients had heterozygous truncating pathogenic WAC variants, with negative parental testing. The findings in this cohort of patients suggest that epilepsy in Desanto-Shinawi syndrome is usually focal and self-limited, and may fall within the epilepsy-aphasia spectrum.

Item does not contain fulltext SETBP1 haploinsufficiency disorder (MIM#616078) is caused by haploinsufficiency of SETBP1 on chromosome 18q12.3, but there has not yet been any systematic evaluation of the major features of this monogenic syndrome, assessing penetrance and expressivity. We describe the first comprehensive study to delineate the associated clinical phenotype, with findings from 34 individuals, including 24 novel cases, all of whom have a SETBP1 loss-of-function variant or single (coding) gene deletion, confirmed by molecular diagnostics. The most commonly reported clinical features included mild motor developmental delay, speech impairment, intellectual disability, hypotonia, vision impairment, attention/concentration deficits, and hyperactivity. Although there is a mild overlap in certain facial features, the disorder does not lead to a distinctive recognizable facial gestalt. As well as providing insight into the clinical spectrum of SETBP1 haploinsufficiency disorder, this reports puts forward care recommendations for patient management.

Importance: Cerebral 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. Objective: To 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 Review: The 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. Findings: Sixteen 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 Relevance: When 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.

Pathogenic variants in DDX3X have recently been identified to be a relatively common cause of intellectual disability in females. In this study, we describe six female probands, from five unrelated families, with five novel heterozygous variants in DDX3X, and the identification of potential germline mosaicism. Consistent features between this cohort and previously described cases include developmental delay or intellectual disability, growth disturbance and movement disorder. Common facial dysmorphism within the cohort include short palpebral fissures, micrognathia, bulbous nasal tip, protruding ears, high arched palate, thin upper vermillion and smooth philtrum. Novel clinical features identified from this cohort include facial dysmorphisms, perinatal complications, valgus feet deformity, lipoatrophy, dystonic episodes, and cutaneous mastocytosis. This case series attempts to expand the phenotype of the DDX3X syndrome; however, it remains heterogeneous. Description of further cases is required to more accurately identify the significance of novel phenotypes within this cohort.

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.

Background The association between left hemisphere stroke and acute speech and language impairment is well documented in adults. However, little is known about this association in childhood arterial ischemic stroke. Here we examined potential predictors of acute speech (dysarthria and apraxia) and language impairments after childhood arterial ischemic stroke, including site of lesion. Methods Children with radiologically confirmed acute arterial ischemic stroke, admitted to a tertiary pediatric hospital from 2004 to 2012, were identified from an institutional registry. We examined the prevalence of dysarthria, apraxia, and language impairment within two weeks of the stroke. Associations with age at stroke event, lesion side (left, right, or bilateral), and arterial territory affected (anterior, posterior, or both) were assessed using logistic regression. Results Sixty-two children with mean age eight years (range three to 17 years) were identified. Strokes were located in the left (32%), right (44%), or both hemispheres (24%). Dysarthria (74%) and language impairment (50%) were frequent. Verbal dyspraxia was less common (11%). There was little evidence that variables of interest, including site of lesion, were significantly associated with increased odds of dysarthria or language impairment (all P > 0.49). Conclusions Regardless of age, children are at high risk of communication disorders after stroke. Unlike adults, left hemisphere stroke was not associated with either speech or language impairment in our cohort, suggesting there may be bihemispheric contribution to language function. Future studies are needed to examine whether the predictors examined here determine long-term outcomes.

Objective: Subclinical phenotypes of nonsyndromic cleft lip with or without cleft palate (CL ± P) may be identified from clinically “unaffected” relatives and could be associated with specific cleft-related gene mutations. It has been hypothesized that velopharyngeal insufficiency (VPI) may be a subclinical phenotype of interest in this population, but this has not been explored quantitatively with appropriate control cohorts. The aim of this case–control study was to compare VPI in at-risk clinically unaffected relatives of individuals with nonsyndromic CL ± P with a low-risk matched normative Australian cohort. Participants: Clinically unaffected (ie, with no overt cleft) first-degree relatives of a proband with nonsyndromic CL ± P (n = 189) and noncleft controls (n = 207). Main Outcome Measure(s): Perceptual measures of VPI encompassing resonance, nasal emission, and articulation were evaluated using the Great Ormond Street Speech Assessment. Quantitative measures of VPI were obtained from the Nasometer II using standardized adult and pediatric speech stimuli. Results: Both perceptual and instrumental measures showed no significant difference ( P > .01) between the VPI in unaffected relatives and the noncleft comparison group. Mean nasalance scores for both groups were calculated and reported according to speech stimuli, age, and sex. Conclusions: Results suggest that VPI, measured through speech, is not a significant subclinical phenotype of nonsyndromic CL ± P. Therefore, further familial genetic investigations exploring VPI may not yield meaningful results. Exploration across multiple subclinical phenotypes in larger cohorts may enable researchers to better understand the multifaceted nature of this complex and heterogeneous anomaly.

To explore the characteristics and associated factors of oromotor dysfunction in minimally verbal children with cerebral palsy (CP) aged five to six years, recruited from a population-based registry.Twenty children with CP who were minimally verbal completed a standardised, observational oromotor assessment. Linear regression analyses examined the relationship between oromotor dysfunction and potential associated factors (e.g., fine and gross motor function, communication, and feeding).Oromotor dysfunction affected every participant and was identified in all structures examined (i.e., face, jaw, lips, and tongue). Oromotor movements showed little dissociation among jaw, lip, and tongue movements. Oromotor dysfunction was univariately associated with the Manual Ability Classification System levels IV-V (Oromotor dysfunction was highly prevalent in our sample of minimally verbal children with CP, having significant functional impacts on feeding and communication. Findings suggest that fine motor function (i.e., Manual Ability Classification System levels IV-V) is a stronger predictor than gross motor function for identifying children with CP who are minimally verbal and at risk of oromotor dysfunction. IMPLICATIONS FOR REHABILITATIONOromotor dysfunction was highly prevalent in our sample of minimally verbal children with cerebral palsy.Severe fine motor impairment strongly predicted oromotor dysfunction, indicating that fine motor function may provide an early indicator of impaired oromotor function for this clinical population.Robust, standardised measures of motor speech-related oromotor development suitable for children with cerebral palsy who are minimally verbal are lacking.Until such a measure is developed, formal evaluation may be achieved via oral motor assessments standardised for typically developing children, with the caveat one must interpret the results with caution.

Aim To examine the frequency, characteristics, and factors associated with speech delay and disorder in a community sample of children with cerebral palsy (CP). Method Participants were 84 children (37 females, 47 males; aged between 4y 11mo–6y 6mo) with CP identified through a population-based registry. Speech and oromotor function were systematically evaluated to provide a differential diagnosis of articulation, phonological, and motor speech disorders. Results In total, 82% (69/84) of participants had delayed or disordered speech production, including minimally verbal presentations (n=20). Verbal participants (n=64) presented with dysarthria (78%), articulation delay or disorder (54%), phonological delay or disorder (43%), features of childhood apraxia of speech (CAS) (17%), or mixed presentations across these conditions. Speech intelligibility was poorest in those with dysarthria and features of CAS. Speech delay or disorder in verbal participants was associated with language impairment (p=0.002) and reduced health-related quality of life (p=0.04) (Fisher’s exact test). Poorer speech accuracy (i.e. lower percentage consonants correct) correlated with greater impairments in both language (p

Feeding difficulties threaten growth, health and neurodevelopment, and are prevalent among infants born preterm. The literature differs on (i) whether these problems persist into early childhood, and (ii) risk factors in the preterm population. In this study we explore feeding difficulties and risk factors in preterm and term-born three-year-olds.To determine whether three-year-olds born30 weeks have poorer feeding outcomes than their term-born peers; and identify predictors of feeding outcomes in children born30 weeks.Feeding outcomes were examined in three-year-old children born30 weeks, and a term-born comparison group, using parent report and the Behavioral Pediatric Feeding Assessment Scale (BPFAS). Factors hypothesized to be associated with feeding difficulties and preterm birth were examined in the preterm group, including: gestational age at birth, birth weight z-score, chronic lung disease (CLD), nasogastric tube (NGT) feeding at hospital discharge, age at breastfeeding cessation, oromotor feeding impairment at 12 months, weight at 12 months in kilograms and neurodevelopmental diagnoses.In 217 children (111 born30 weeks, 106 term-born), parents of children born30 weeks reported more feeding concerns on parent report questions than parents of term-born peers. CLD, NGT at discharge, neurodevelopmental diagnoses and weight at 12 months predicted these parent-reported outcomes. By contrast, there was no difference in BPFAS results between preterm and term groups, and BPFAS scores were predicted only by birth-weight z-score in the preterm group.Behavioral feeding outcomes for three-year-old children born30 weeks were equivalent to term-born peers in this study, however parental concerns about feeding differed. Further investigation is required to identify the drivers of parent concerns about feeding. Children displaying core risk factors warrant specific follow-up of feeding outcomes.

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 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.

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.

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.

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

Objective:To analyze the oral motor, speech, and language phenotype in 20 children and adults with Dravet syndrome (DS) associated with mutations in SCN1A.Methods:Fifteen verbal and 5 minimally verbal DS patients with SCN1A mutations (aged 15 months-28 years) underwent a tailored assessment battery.Results:Speech was characterized by imprecise articulation, abnormal nasal resonance, voice, and pitch, and prosody errors. Half of verbal patients had moderate to severely impaired conversational speech intelligibility. Oral motor impairment, motor planning/programming difficulties, and poor postural control were typical. Nonverbal individuals had intentional communication. Cognitive skills varied markedly, with intellectual functioning ranging from the low average range to severe intellectual disability. Language impairment was congruent with cognition.Conclusions:We describe a distinctive speech, language, and oral motor phenotype in children and adults with DS associated with mutations in SCN1A. Recognizing this phenotype will guide therapeutic intervention in patients with DS.

Objective To examine predictors of speech disorder resolution versus persistence at age 7 years in children with speech errors at age 4 years. Study design Participants were drawn from a longitudinal, community cohort. Assessment at age 4 years (N = 1494) identified children with speech errors. Reassessment at age 7 years allowed categorization into resolved or persistent categories. Logistic regression examined predictors of speech outcome, including family history, sex, socioeconomic status, nonverbal intelligence, and speech error type (delay vs disorder). Results At age 7 years, persistent errors were seen in over 40% of children who had errors at age 4 years. Speech symptomatology was the only significant predictor of outcome ( P = .02). Children with disordered errors at age 4 years were twice as likely to have poor speech outcomes at age 7 years compared with those with delayed errors. Conclusions Children with speech delay at age 4 years seem more likely to resolve, and this might justify a "watch and wait" approach. In contrast, those with speech disorder at age 4 years appear to be at greater risk for persistent difficulties, and could be prioritized for therapy to offset long-term impacts.

Background: Large-scale multi-site experimental and clinical speech protocols require high-fidelity, easy-to-use speech recording technologies. However, little is known about the reliability and comparability of affordable, portable and commonly used technologies with traditional well-validated devices (e.g., a hard disc recorder with a high-quality microphone). Objective: To examine the comparability of speech and voice samples acquired from protocols involving high- and low-quality devices. Methods: Speech samples were acquired simultaneously from 15 healthy adults using four devices and analyzed acoustically for measures of timing and voice quality. For the purpose of making initial comparisons, methods were deemed comparable if the resultant acoustic data yielded root mean squared error values ≤10% and statistically significant Spearman's correlation coefficients. Results: The data suggest that there is significant and widespread variability in the quality and reliability between different acquisition methods for voice and speech recording. Not one method provided statistically similar data to the protocol using the benchmark device (i.e., a high-quality recorder coupled with a condenser microphone). Acoustic analysis cannot be assumed to be comparable if different recording methods are used to record speech. Conclusions: Findings have implications for researchers and clinicians hoping to make comparisons between labs or, where lower-quality devices are suggested, to offer equal fidelity.

PURPOSE OF REVIEW: Developmental speech and language disorders are common, seen in one in 20 preschool children, in the absence of frank neurological deficits or intellectual impairment. They are a key reason parents seek help from paediatricians. Complex neurogenetic and environmental contributions underpin the disorders, yet few specific causes are known. With the advent of quantitative brain imaging, a growing number of studies have investigated neural contributions. Here, we discuss current MRI approaches and recent findings (January 2014-June 2016) in the field. RECENT FINDINGS: Five relevant studies were identified (n = 3 - speech disorder and n = 2 - language disorder). Significant variability in MRI approaches and heterogeneity of participant phenotypes was seen. Children with speech disorder had structural and functional anomalies in the left supramarginal gyrus and functional anomalies in the posterior cerebellum bilaterally - regions critical for sensory-motor integration or feedback. Children with language disorder showed increased mean and radial diffusivity of the left arcuate fasciculus, although a widespread cortical and subcortical network of regions was implicated. SUMMARY: Limited evidence exists for specific regional brain anomalies in this population. MRI prognostic markers of speech and language ability are not currently available at an individual level. Further work is required to disentangle neurobiological contributions to speech and language disorders for affected children.

A proof of concept system is developed to provide a broad assessment of speech development issues in children. It has been designed to enable non-experts to complete an initial screening of children's speech with the aim of reducing the workload on Speech Language Pathology services. The system was composed of an acoustic model trained by neural networks with split temporal context features and a constrained HMM-encoded with the knowledge of Speech Language Pathologists. Results demonstrated the system was able to improve PER by 33% compared with standard HMM decoders, with a minimum PER of 19.03% achieved. Identification of Phonological Error Patterns with up to 94% accuracy was achieved despite utilizing only a small corpus of disordered speech from Australian children. These results indicate the proposed system is viable and the direction of further development are outlined in the paper.

Objectives To evaluate oromotor feeding at 12 months' corrected age in children born before 30 weeks' gestational age compared with term-born peers by the use of observational assessment and to examine predictors of oromotor feeding difficulties in children born before 30 weeks. Study Design Oromotor feeding was assessed at 12 months' corrected age with the Schedule for Oral Motor Assessment in 90 children born before 30 weeks and 137 term-born children. Feeding outcomes were compared between groups. Sex, gestational age at birth, birth weight, social risk, history of tube feeding, surgery, and respiratory support were analyzed as potential risk factors. Results At 12 months' corrected age, 38% of children born before 30 weeks had oromotor feeding difficulties—with greater odds of difficulties than term-born participants (OR 2.21; 95% CI 1.55-3.16). Difficulties were observed with specific food textures (purees, solids, crackers) and areas of oromotor skill (lip and jaw movement, food loss, swallowing). Neonatal surgery (n = 4/89) appeared to be the only predictor of oromotor feeding issues (OR 11.66; 95% CI 1.56-87.23; P = .02). Conclusions Children born before 30 weeks presented with greater odds of oromotor feeding problems at 12 months' corrected age than their term-born peers. Neonatal surgery was associated with increased odds of feeding difficulties in children born before 30 weeks. Surveillance and support of oromotor feeding skills for very preterm children is indicated, particularly during their transition to solid foods.

Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders.

Aim Early sucking and swallowing problems may be potential markers of neonatal brain injury and assist in identifying those infants at increased risk of adverse outcomes, but the relation between early sucking and swallowing problems and neonatal brain injury has not been established. The aim of the review was, therefore, to investigate the relation between early measures of sucking and swallowing and neurodevelopmental outcomes in infants diagnosed with neonatal brain injury and in infants born very preterm (

Dysarthria and dysphagia are known complications following posterior fossa tumour (PFT) surgery. Outcome studies for these disorders, however, have focused on a select sub-group of children with mutism. Little is known regarding the incidence or features of these impairments in a consecutively admitted sample of children with PFT. This study describes the incidence and features of mutism, dysarthria and dysphagia during the acute post-surgical phase in a consecutive sample of children with PFT, unselected for the presence of mutism.A retrospective medical chart review of children aged 2 to 18 years consecutively admitted with PFT between January 2003 and January 2008 was conducted.Twenty-seven children with PFT were identified. Post-surgical mutism, dysarthria and dysphagia were recorded in 9/27 (33%), 8/27 (30%) and 9/27 (33%) cases, respectively. Dysarthria most commonly involved deficits in articulation; however, impairments in respiration, phonation and prosody were also reported. Dysphagia involved all stages of swallowing (i.e., pre-oral anticipatory, oral preparatory, oral and pharyngeal). Eighty-nine percent of children (8/9) presented with dysphagia at hospital discharge.The incidence of acute presentation of mutism, dysarthria and dysphagia post-surgery was relatively high, affecting around one in three cases. This incidence rate, considered together with the fact that over half of all cases had co-morbid communication or swallowing impairments, suggests that health professionals should be aware of the likelihood of dysarthria and dysphagia presentation in the acute period and consider speech pathology referral where necessary.

Rationale, aims and objectives Little is documented about contemporary management of speech and swallowing disorders associated with paediatric acquired brain injury (ABI). It is therefore challenging for clinicians in this field to benchmark their clinical management against current evidence or practices undertaken in other centres. To address this issue, we aimed to provide much-needed baseline data on speech and language pathology management of speech and swallowing disorders associated with childhood ABI. Key objectives were to: (i) determine whether clinicians use formalized referral criteria, clinical guidelines, protocols or care pathways; and (ii) to document the specific assessment and treatment approaches used. Methods Speech and language pathology managers and clinicians at 31 major paediatric rehabilitation centres across Australia, New Zealand, the UK and Ireland were invited to participate in an online survey. Results Fifty-one speech and language pathologists responded representing 26 centres (84% response rate). Routine referrals of ABI patients to speech and language pathology occurred relatively infrequently in these centres (12%). Centres utilized assessment protocols (23%) and guidelines (35%) more frequently than treatment guidelines (8%). Multidisciplinary care pathways were applied by 31%. Most centres used adult-based motor speech assessments and informal (‘in-house developed’) swallowing assessment tools. Conclusions The limited use of referral criteria, protocols, care pathways and guidelines invites the possibility of unequal care, and less than optimal outcomes. Reliance on adult-based or in-house assessments is inappropriate, yet frequently a necessity due to an absence of paediatric-specific tools in this field. Further research is required in parallel with the formation of consensus groups to support the development of: (i) paediatric-specific assessment tools and management approaches; and (ii) clinical protocols and guidelines.

Background A lack of data on dysarthria and dysphagia outcomes for children following traumatic brain injury (TBI) limits our clinical evidence base, and poses daily challenges for the speech language pathologist (SLP) managing this group. The present study aimed to examine dysarthria and dysphagia incidence and the clinical presentation of children with these disorders in the acute phase following TBI. Methods Incidence and characteristics were determined via a comprehensive retrospective medical chart review of children consecutively referred to a tertiary paediatric hospital over an 8-year period. Cases (n= 22 dysarthria, n= 72 dysphagia) and matched controls were compared across ancillary variables (e.g. age, severity of TBI, motor impairment). Results Incidence across the entire cohort was low [i.e. dysarthria (1.2%, 22/1895), dysphagia (3.8%, 72/1895)], but was markedly higher for the sub-category of children with severe TBI [e.g. dysphagia (76%, 63/83)]. Speech deficits were reported across respiration, phonation, resonance, articulation and prosody. Swallowing deficits included reduced lip closure, delayed swallow initiation, wet voice and coughing. Language and swallowing deficits were often co-morbid with dysarthria. Motor impairment was frequently co-morbid with both dysarthria and dysphagia. Cases had longer periods of hospitalization, ventilation and supplementary feeding compared with controls. Conclusion Despite the low incidence of dysarthria and dysphagia across the entire TBI cohort, this sub-group may place longer-term burden on SLP services, having prolonged periods of ventilation, extended periods of hospitalization and a complex co-morbid clinical presentation compared with controls. The prevalence of co-morbid communication and swallowing impairments suggests a need for integrated rather than single discipline (i.e. dysphagia stream only) SLP services.

Background Swallowing impairment (dysphagia) has been reported as a possible sequela following surgical removal of posterior fossa tumours (PFT). Dysphagia may result in aspiration of food/fluid leading to respiratory tract infection, placing the patient at considerable health risk. No prospective studies have investigated dysphagia pre and post-surgical removal of PFT. The present study aimed to document the presence, severity and characteristics of dysphagia pre and post-surgical resection of PFT, and to determine whether children were managing a normal oral diet (i.e. a measure of functional swallowing ability) at two months post-surgery. Methods Dysphagia was assessed using a clinical bedside evaluation in 11 participants (8 M; aged 3 years 6 months to 13 years 5 months) pre (within 3–5 days) and post-surgery (within 1–2 weeks). Return to normal oral feeding was documented at two months post-surgery via a parent telephone interview. Results and conclusion No participant had dysphagia pre-surgically. Seventy three percent (8/11) had dysphagia at 1–2 weeks post-surgery, primarily characterized by impaired lip closure (8/8), poor mastication (8/8), and inefficient oral transit (8/8). Whilst dysphagia severity was largely mild (6/8) in presentation, data suggest that assessment and monitoring of this disorder may be required in the acute phase post-surgery. Overall however, prognosis appeared positive, with 75% (6/8) of participants managing a full oral diet at 2 months post-surgery.

Early screening and intervention for dysphagia is crucial to offset potential outcomes such as compromised nutrition or reduced respiratory function. Current paediatric dysphagia screening tests are subjective with poor sensitivity and specificity. The present study examined whether an objective method, pulse oximetry (measuring oxygen saturation (SpO2) levels), could differentiate between children with and without dysphagia, in relation to (1) Average pre-feeding baseline SpO2 levels; (2) Average feeding SpO2 levels; (3) Average post-feeding SpO2 levels; and (4) The number of events of oxygen desaturation pre-, during and after feeding.Nine participants with chronic neurological disability (CND) (7 F, 2 M) (9; 7-15; 11 years) and nine control participants matched for age (9; 5-16; 0 years) and sex were assessed using a clinical bedside evaluation (CBE) and pulse oximetry.A statistically significant difference was found in SpO2 levels between the two groups (p0.001) during oral feeding only (sensitivity, 88.9%; specificity, 88.9%). Only three children with dysphagia experienced 'events' of SpO2 desaturation during feeding.Pulse oximetry may provide a useful adjunct to the CBE for dysphagia screening, with average SpO2 levels during feeding predicting those with and without dysphagia with moderate levels of sensitivity and specificity. The finding of individual variation in desaturation 'events', however, warrants the provision of further data on large homogenous populations to provide definitive criterion for pathological SpO2 levels associated with dysphagia during oral feeding.

The bottom line Learning to speak is one of life’s most important accomplishments. Language, usually acquired so effortlessly, underpins every child’s learning and ability to interact with others and to establish relationships. Poor communication has profound implications for employment, health, literacy, parenting the next generation, and social inequalities. It is therefore of great societal concern that language, speech, and fluency disorders are among the most common developmental disorders. The aim of this clinical review is to summarise the current information on language and speech impairments to help general practitioners, universal well child services, and paediatricians to identify the most common problems, understand their clinical course, decide when to refer and for what services, and understand what improvements can be expected. #### Sources and selection criteria We carried out a search of Medline using the terms “children”, “language”, “speech”, “stuttering” or “stammering” AND “delay”, “disorder”, “impairment”, “treatment”, and “intervention.” We also searched the Cochrane database of systematic reviews using the terms “children”, “language”, “speech”, and “stuttering/stammering”. Incidence and prevalence data were derived from prospective longitudinal cohorts and cross-sectional population studies with direct assessment of …

PRIMARY OBJECTIVE: To document the clinical characteristics of acute dysphagia in a group of pediatric patients after traumatic brain injury (TBI). RESEARCH DESIGN: Prospective group study. METHODS: Fourteen subjects (7 males, 7 females), aged 4 years 1 month to 15 years, with moderate or severe TBI (Glasgow Coma Scale [GCS] < 12). Subjects were assessed via clinical bedside examination documenting cognitive status, oromotor function, feeding function, dietary recommendations, and an indication of overall feeding severity. RESULTS: A pattern of impaired cognition, altered behavior related to feeding, severe tonal and postural deficits, oromotor, respiratory, and laryngeal impairments, and oral sensitivity issues was revealed. CONCLUSIONS: Swallowing impairment was affected by multilevel deficits, which both individually and in combination had a negative impact on swallowing competence and safety. In light of deficits identified, which could not be observed on videofluoroscopic investigation alone, this study highlighted the importance of the clinical bedside examination in assessing dysphagia in pediatric patients post-TBI for identifying targets for intervention.