Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.

Stuttering is a common speech disorder that interrupts speech fluency and tends to cluster in families. Typically, stuttering is characterized by speech sounds, words or syllables which may be repeated or prolonged and speech that may be further interrupted by hesitations or 'blocks'. Rare variants in a small number of genes encoding lysosomal pathway proteins have been linked to stuttering. We studied a large four-generation family in which persistent stuttering was inherited in an autosomal dominant manner with disruption of the cortico-basal-ganglia-thalamo-cortical network found on imaging. Exome sequencing of three affected family members revealed the PPID c.808C>T (p.Pro270Ser) variant that segregated with stuttering in the family. We generated a Ppid p.Pro270Ser knock-in mouse model and performed ex vivo imaging to assess for brain changes. Diffusion-weighted MRI in the mouse revealed significant microstructural changes in the left corticospinal tract, as previously implicated in stuttering. Quantitative susceptibility mapping also detected changes in cortico-striatal-thalamo-cortical loop tissue composition, consistent with findings in affected family members. This is the first report to implicate a chaperone protein in the pathogenesis of stuttering. The humanized Ppid murine model recapitulates network findings observed in affected family members.

Using machine-learning methods to identify early-life predictors of 11-year language outcome.

BACKGROUND: Language is foundational for neurodevelopment and quality of life, but an estimated 10% of children have a language disorder at age 5. Many children shift between classifications of typical and low language if assessed at multiple times in the early years, making it difficult to identify which children will have persisting difficulties and benefit most from support. This study aims to identify a parsimonious set of preschool indicators that predict language outcomes in late childhood, using data from the population-based Early Language in Victoria Study (n = 839). METHODS: Parents completed surveys about their children at ages 8, 12, 24, and 36 months. At 11 years, children were assessed using the Clinical Evaluation of Language Fundamentals 4th Edition (CELF-4). We used random forests to identify which of the 1990 parent-reported questions best predict children's 11-year language outcome (CELF-4 score ≤81 representing low language) and used SuperLearner to estimate the accuracy of the constrained sets of questions. RESULTS: At 24 months, seven predictors relating to vocabulary, symbolic play, pragmatics and behavior yielded 73% sensitivity (95% CI: 57, 85) and 77% specificity (95% CI: 74, 80) for predicting low language at 11 years. [Corrections made on 5 May 2023, after first online publication: In the preceding sentence 'motor skills' has been corrected to 'behavior' in this version.] At 36 months, 7 predictors relating to morphosyntax, vocabulary, parent-child interactions, and parental stress yielded 75% sensitivity (95% CI: 58, 88) and 85% specificity (95% CI: 81, 87). Measures at 8 and 12 months yielded unsatisfactory accuracy. CONCLUSIONS: We identified two short sets of questions that predict language outcomes at age 11 with fair accuracy. Future research should seek to replicate results in a separate cohort.

Atypical development of Broca's area in a large family with inherited stuttering.

Developmental stuttering is a condition of speech dysfluency, characterized by pauses, blocks, prolongations and sound or syllable repetitions. It affects around 1% of the population, with potential detrimental effects on mental health and long-term employment. Accumulating evidence points to a genetic aetiology, yet gene-brain associations remain poorly understood due to a lack of MRI studies in affected families. Here we report the first neuroimaging study of developmental stuttering in a family with autosomal dominant inheritance of persistent stuttering. We studied a four-generation family, 16 family members were included in genotyping analysis. T1-weighted and diffusion-weighted MRI scans were conducted on seven family members (six male; aged 9-63 years) with two age and sex matched controls without stuttering (n = 14). Using Freesurfer, we analysed cortical morphology (cortical thickness, surface area and local gyrification index) and basal ganglia volumes. White matter integrity in key speech and language tracts (i.e. frontal aslant tract and arcuate fasciculus) was also analysed using MRtrix and probabilistic tractography. We identified a significant age by group interaction effect for cortical thickness in the left hemisphere pars opercularis (Broca's area). In affected family members this region failed to follow the typical trajectory of age-related thinning observed in controls. Surface area analysis revealed the middle frontal gyrus region was reduced bilaterally in the family (all cortical morphometry significance levels set at a vertex-wise threshold of P < 0.01, corrected for multiple comparisons). Both the left and right globus pallidus were larger in the family than in the control group (left P = 0.017; right P = 0.037), and a larger right globus pallidus was associated with more severe stuttering (rho = 0.86, P = 0.01). No white matter differences were identified. Genotyping identified novel loci on chromosomes 1 and 4 that map with the stuttering phenotype. Our findings denote disruption within the cortico-basal ganglia-thalamo-cortical network. The lack of typical development of these structures reflects the anatomical basis of the abnormal inhibitory control network between Broca's area and the striatum underpinning stuttering in these individuals. This is the first evidence of a neural phenotype in a family with an autosomal dominantly inherited stuttering.

Creating the conditions for robust early language development for all: Part two: Evidence informed public health framework for child language in the early years.

BACKGROUND: One of the most significant developmental accomplishments is the emergence of language in early childhood. Whilst this process is effortless for most children, others can face significant hurdles. Identifying, in the early years, which children will go on to have developmental language disorder is, however, fraught with several well-documented challenges. In the preceding paper we described and linked new research evidence about factors that influence language development in the early years, noting that exposure to some may be time sensitive and that these influences cluster together and can accumulate over time. We demonstrated that risk profiles were associated with and characterised low language trajectories, and we considered how this information could be integrated into a concept that moves beyond screening at single time points in the early years. We argue that this evidence might be used to build an improved early years framework for language thereby creating a more equitable surveillance system that does not leave children living in less advantageous circumstances behind. Underpinning this thinking was a bioecological framework that incorporates the social, environmental and family factors in the child's ecosystem known to influence language development in the early years. AIMS: To develop a proposal for the design and implementation of an early language public health framework based on current best evidence METHODS: We synthesised the findings from the companion paper (Reilly & McKean 2023) regarding early language trajectories, inequalities and clustering of risks with key public health concepts, relevant intervention evidence and implementation theories to develop a new framework for language surveillance and preventative interventions in the early years. MAIN CONTRIBUTION: An evidence informed early language public health framework is presented. Describing in turn (1) essential components; (2) relevant interventions; (3) essential qualities for implementation ((i) probabilistic, (ii) proportionate, (iii) developmental and sustained and (iv) codesigned); (4) system-level structures and (5) processes required to adopt and embed an early language public health framework in an existing Local Government Area's child health surveillance and early prevention-intervention systems. CONCLUSIONS: Children's language development influences their life chances across the life course and language difficulties are unfairly distributed across society. Current evidence points to the need for whole systems approaches to early child language and enables a blueprint for such a framework to be described. WHAT THIS PAPER ADDS: What is already known on the subject Early child language development sets the stage for a child's life chances and language difficulties can have profound long-term consequences. Such difficulties are unfairly distributed across society and the reach of preventative services is not universal or equitable. WHAT THIS STUDY ADDS: Several effective primary and secondary preventative interventions exist but their successful implementation is not straightforward. An early language public health framework of surveillance and intervention is described to provide equitable and effective early interventions to children from 0-4 years. We detail the essential components, interventions and qualities of that framework and describe system-level structures and processes required to adopt and embed an early language public health framework in a given locality. WHAT ARE THE CLINICAL IMPLICATIONS OF THIS WORK?: A whole systems approach to early child language is required and should be co-designed through local collaboration with family, community and children's services stakeholders. A public health speech and language therapist role could catalyse the implementation of such approaches and support continuous improvement.

Creating the conditions for robust early language development for all-Part 1: Evidence-informed child language surveillance in the early years.

BACKGROUND: The emergence of language in the early years is a major developmental accomplishment that underpins learning, enables social interaction and, later, is an indicator of well-being. Learning language is an effortless process for most, but can be challenging for others. There is a need to act early. First, because there are several social, environmental and family factors known to influence how language develops during the critical early years. Second, there is a robust association between a child's socio-economic circumstances and language outcomes. Put simply, children living in less advantaged circumstance have poorer language outcomes, which are apparent very early and persist across the lifespan. Third, children with demonstrated weaknesses in language learning in early childhood have poorer educational, employment, mental health and quality-of-life outcomes across the lifespan. Acting early to counter these impacts is important; however, there are several well-documented challenges in accurately identifying in the early years children who are at later risk of developmental language disorder (DLD) and to deliver prevention and intervention programmes to scale. This is critical because many services do not currently reach those who need them most; as many as 50% of children in need may not be receiving support. AIM: To determine whether an improved surveillance system, based on best evidence, could be developed for the early years. METHODS & PROCEDURES: We summarised findings from longitudinal, population or community studies that: (1) adopted bioecological models, (2) repeatedly measured language (including the early years) and (3) adopted similar methodologies, to identify factors that influence language outcomes. MAIN CONTRIBUTION: The evidence confirmed that language development is not always stable but is characterized by distinct trajectories and each has distinguishing social, environmental features. Children in the change or fluctuating groups tend to live in less advantageous circumstances that may not always support and enable language development. Risk factors tend to cluster and accumulate across the early years and beyond, thereby markedly increasing the likelihood of poorer language outcomes later in life. CONCLUSIONS & IMPLICATIONS: In this the first of two papers, designed to be read together, we integrate research on the social determinants of child language and propose they be embedded into surveillance models. This has the potential to reach more children and those living in disadvantaged circumstances. In the accompanying paper we combine this information with evidence-informed early prevention/intervention approaches and propose the design and implementation of an early language public health framework. WHAT THIS PAPER ADDS: What is already known on the subject There are several well-documented challenges in accurately identifying in the early years children who are at later risk of DLD and reaching those most in need of language support. What this study adds to existing knowledge A combination of child, family and environmental determinants, collectively and cumulatively, play out over time and dramatically increase the risk of later language problems, in particular those children living in disadvantaged circumstances. We propose an improved surveillance system that incorporates these determinants be developed and that this be part of a whole of system approach to child language in the early years. What are the potential or actual clinical implications of this work? Clinicians intuitively act to prioritize children with multiple features or risks; however, they can only do so for those who present or are identified to be at risk. Given many children with language problems are not being reached by many early language services, it is reasonable to ask if this knowledge can be integrated to improve reach. Or is a different surveillance model required?

Associations between responsive parental behaviours in infancy and toddlerhood, and language outcomes at age 7 years in a population-based sample.

BACKGROUND: A wealth of evidence supports the important role high-quality parent-child interactions play in children's early language acquisition. However, the impact on later language outcomes remains unclear. AIMS: To examine the associations between responsive parental behaviours across the early years and child language outcomes at age 7 years with families from an Australian longitudinal cohort study (N = 1148, 50% female). METHODS & PROCEDURES: At child ages 12, 24 and 36 months, parents completed a self-report measure of responsive parental behaviours. Child language was directly assessed at age 7 using the Clinical Evaluation of Language Fundamentals, 4th edition (CELF-4), Australian Standardisation. Linear regression was used to examine associations between responsive parental behaviours from 12 to 36 months (consistently high, inconsistent and consistently low responsive parental behaviours at the three time points) and language scores at age 7 years. Adjusted models were run, including the following potential confounders: child sex; birth weight; birth order; maternal education; socio-economic disadvantage; non-English-speaking background; family history of speech-language problems; mother's vocabulary score; maternal mental health score; and mother's age at birth of child. A final adjusted model was run, including the potential confounder variables as well as adjusting for children's earlier language skills. OUTCOMES & RESULTS: Linear regression results showed children with parents who rated high on responsive parental behaviours at all three time points had higher mean language scores at age 7 than children whose parents reported low responsive parental behaviours across early childhood. This association attenuated after adjusting for earlier child language skills. CONCLUSIONS & IMPLICATIONS: Findings support the consistent use of responsive parental behaviours across the very early years of childhood to support long-term language outcomes. Findings also suggest that models of surveillance and support which monitor and assist families at multiple time-points over the early years are likely to be most effective for preventing ongoing language difficulties. WHAT THIS PAPER ADDS: What is already known on this subject There is extensive evidence consistently demonstrating the important contribution of aspects of parent-child interaction, specifically responsive parental behaviours, to children's language development. What this paper adds to the existing knowledge Understanding the cumulative benefit of responsive parent-child interactions across the very early years may help to inform preventive interventions and service delivery models for supporting young children's language development. This study demonstrates in a large, population-based cohort the contribution of consistency of responsive parental behaviours during infancy and toddlerhood to school-age language outcomes, accounting for other child, family and environmental factors. Capturing regular parent behaviours via self-report during the early years may be a more efficient and less costly method than parent-child interaction observations to monitor the home language-learning environment during routine developmental checks. What are the potential or actual clinical implications of this work? Findings support the need for surveillance of children and families in the early years, ensuring that intervention occurs when families need it most, that is, support is responsive to changing needs and that nuanced advice and support strategies are provided to activate positive developmental cascades. Capturing both parent behaviours and child language may assist clinicians to identify those families who may benefit from parent-child interaction intervention.

Self-reported impact of developmental stuttering across the lifespan.

AIM: To examine the phenomenology of stuttering across the lifespan in the largest prospective cohort to date. METHOD: Participants aged 7 years and older with a history of developmental stuttering were recruited. Self-reported phenotypic data were collected online including stuttering symptomatology, co-occurring phenotypes, genetic predisposition, factors associated with stuttering severity, and impact on anxiety, education, and employment. RESULTS: A total of 987 participants (852 adults: 590 males, 262 females, mean age 49 years [SD = 17 years 10 months; range = 18-93 years] and 135 children: 97 males, 38 females, mean age 11 years 4 months [SD = 3 years; range = 7-17 years]) were recruited. Stuttering onset occurred at age 3 to 6 years in 64.0%. Blocking (73.2%) was the most frequent phenotype; 75.9% had sought stuttering therapy and 15.5% identified as having recovered. Half (49.9%) reported a family history. There was a significant negative correlation with age for both stuttering frequency and severity in adults. Most were anxious due to stuttering (90.4%) and perceived stuttering as a barrier to education and employment outcomes (80.7%). INTERPRETATION: The frequent persistence of stuttering and the high proportion with a family history suggest that stuttering is a complex trait that does not often resolve, even with therapy. These data provide new insights into the phenotype and prognosis of stuttering, information that is critically needed to encourage the development of more effective speech therapies. WHAT THIS PAPER ADDS: Half of the study cohort had a family history of stuttering. While 75.9% of participants had sought stuttering therapy, only 15.5% identified as having recovered. There was a significant negative correlation between age and stuttering frequency and severity in adults.

Infant Regulation: Associations with Child Language Development in a Longitudinal Cohort.

OBJECTIVE: To determine whether infants who have regulatory problems (eg, sleeping, crying, and feeding problems) at 1 year of age are at increased risk of experiencing language difficulties at ages 5 and 11 years, compared with settled infants. STUDY DESIGN: Parent survey and child assessment data (n = 1131) were drawn from a longitudinal community cohort study. Latent Class Analysis identified 5 profiles of infant regulation including those who were settled (37%), had tantrums (21%), had sleep problems (25%), were moderately unsettled (13%), and severely unsettled (3%) at 12 months of age. Adjusted regression analyses examined associations between infant regulatory profiles and language ability (Clinical Evaluation of Language Fundamentals-fourth edition) at ages 5 and 11 years. RESULTS: Infants who were moderately unsettled had lower language scores at age 5 (adjusted mean difference, -3.89; 95% CI, -6.92 to -0.86) and were more likely to have language difficulties (aOR, 2.71; 95% CI, 1.28-5.75), than infants who were settled. Infants who were severely unsettled at 12 months of age, had lower language scores at ages 5 (adjusted mean difference, -7.71; 95% CI, -13.07 to -2.36) and 11 (adjusted mean difference, -6.50; 95% CI, -11.60 to -1.39), than infants who were settled. Severely unsettled infants were 5 times more likely to have language difficulties at age 5 than their settled counterparts (aOR, 5.01; 95% CI, 1.72-14.63). CONCLUSIONS: Children at 1 year of age with multiple regulatory problems are at an increased risk for poorer language skills at ages 5 and 11 years.

Health-related quality of life of children with low language from early childhood to adolescence: results from an Australian longitudinal population-based study.

BACKGROUND: Low language abilities are known to be associated with significant adverse long-term outcomes. However, associations between low language and health-related quality of life (HRQoL) are unclear. We aimed to (a) examine the association between low language and HRQoL from 4 to 13 years and (b) classify the children's trajectories of HRQoL and language and examine the association between language and HRQoL trajectories. METHODS: Data were from an Australian community-based cohort of children. HRQoL was measured at ages 4-13 years using the parent-reported Pediatric Quality of Life Inventory 4.0. Language was assessed using the Clinical Evaluation of Language Fundamentals (CELF)-Preschool 2nd edition at 4 years and the CELF-4th edition at 5, 7 and 11 years. Multivariable linear regression and mixed effect modelling were used to estimate cross-sectional and longitudinal associations between low language and HRQoL from 4 to 13 years. A joint group-based trajectory model was used to characterize associations between HRQoL and language trajectories over childhood. RESULTS: Children with low language had substantially lower HRQoL than children with typical language from 4 to 13 years. Higher language scores were associated with better HRQoL, particularly in social and school functioning. Three HRQoL trajectories were identified: stable-high (51% of children), reduced with slow decline (40%) and low with rapid decline (9%). Children with low language were less likely to follow a stable-high HRQoL trajectory (40%) while 26% and 34% followed the reduced with slow decline and low with rapid decline trajectories, respectively. CONCLUSIONS: Children with low language experienced reduced HRQoL from 4 to 13 years. More than half had declining trajectories in HRQoL highlighting the need to monitor these children over time. Interventions should not only aim to improve children's language ability but also address the wider functional impacts of low language.

The education word gap emerges by 18 months: findings from an Australian prospective study.

BACKGROUND: The idea of the '30 million word gap' suggests families from more socioeconomically advantaged backgrounds engage in more verbal interactions with their child than disadvantaged families. Initial findings from the Language in Little Ones (LiLO) study up to 12 months showed no word gap between maternal education groups. METHODS: Families with either high or low maternal education were purposively recruited into a five-year prospective study. We report results from the first three waves of LiLO when children were 6, 12 and 18 months old. Day-long audio recordings, obtained using the Language Environment Analysis software, provided counts of adult words spoken to the child, child vocalizations and conversational turns. RESULTS: By the time children were 18 months old all three measures of talk were 0.5 to 0.7 SD higher among families with more education, but with large variation within education groups. Changes in talk from 6 to 18 months highlighted that families from low educated backgrounds were decreasing the amount they spoke to their children (- 4219.54, 95% CI -6054.13, - 2384.95), compared to families from high educated backgrounds who remained relatively stable across this age period (- 369.13, 95% CI - 2344.57, 1606.30). CONCLUSIONS: The socioeconomic word gap emerges between 12 and 18 months of age. Interventions to enhance maternal communication, child vocalisations and vocabulary development should begin prior to 18 months.

The relationship between language difficulties, psychosocial difficulties and speech-language pathology service access in the community.

BACKGROUND: A range of factors may impact whether children access speech-language pathology (SLP) services, beyond their communication difficulties. For instance, co-occurring psychosocial difficulties may amplify children's observable difficulties, leading to greater access. It is important to examine such associations because they may reflect inherent differences between children with language difficulties who access services and those who do not, indicating under-servicing for subgroups in the community. AIMS: The first aim was to examine possible differences in psychosocial difficulties between children with language difficulties who did versus did not access SLP services in the past 12 months. The second aim was to examine the unique contribution of psychosocial difficulties to service access, over and above language difficulties and other common predictors of service access. METHODS & PROCEDURES: Analyses were carried out on data gathered from 808 eleven-year-old children who took part in the Early Language in Victoria Study (ELVS). Children were categorized as having language difficulties based on their CELF-4 Core Language Score with a cut-point of > 1.25 SD below the mean. The primary outcome measure was access to SLP services in the past 12 months. Comparison and predictor variables included children's psychosocial difficulties, language skills, relevant demographic variables (gender, caregiver education) and prior SLP access. OUTCOMES & RESULTS: A total of 42 children with language difficulties who had accessed SLP services had significantly greater psychosocial difficulties than those who had not (SDQ Total Difficulties, U = 53.00, z = -4.080, p < 0.001). Using binary logistic regression, a model examining child gender, caregiver education, psychosocial difficulties (internalizing and externalizing behaviours), language difficulties and prior SLP access (in earlier years) was significant χ2 (8) = 137.285, p< 0.001, with increased externalizing difficulties (OR = 1.213, p < 0.001), increased communication difficulties (OR = 0.949, p < 0.001), and prior SLP access (OR = 7.430, p < 0.001) identified as unique predictors of service access. CONCLUSIONS & IMPLICATIONS: The results indicate that children with language difficulties who have comorbid psychosocial difficulties are more likely to access services than those who do not. Accordingly, children with language difficulties who access clinical services may require interdisciplinary support, while children without co-morbid psychosocial difficulties may be under-referred for SLP services. What this paper adds What is already known on this subject There is evidence that a range of personal and contextual factors impact the likelihood of a person accessing healthcare services beyond the specific issue of concern. What this paper adds to existing knowledge In this population-based study, we provide statistical evidence that children with language difficulties who had higher levels of psychosocial difficulties were more likely to access SLP services than those who had lower levels. What are the potential or actual clinical implications of this work? Children with language difficulties who access SLP services may require support for psychosocial difficulties, while children who do not have comorbid difficulties may be underserviced in the community.

Health-Related Quality of Life in Children With Low Language or Congenital Hearing Loss, as Measured by the PedsQL and Health Utility Index Mark 3.

OBJECTIVES: To examine health-related quality of life (HRQoL) in young children with low language or congenital hearing loss and to explore the value of assessing HRQoL by concurrently administering 2 HRQoL instruments in populations of children. METHODS: Data were from 2 Australian community-based studies: Language for Learning (children with typical and low language at age 4 years, n = 1012) and the Statewide Comparison of Outcomes study (children with hearing loss, n = 108). HRQoL was measured using the parent-reported Health Utilities Index Mark 3 (HUI3) and the Pediatrics Quality of Life Inventory 4.0 (PedsQL) generic core scale. Agreement between the HRQoL instruments was assessed using intraclass correlation and Bland-Altman plots. RESULTS: Children with low language and with hearing loss had lower HRQoL than children with normal language; the worst HRQoL was experienced by children with both. The lower HRQoL was mainly due to impaired school functioning (PedsQL) and speech and cognition (HUI3). Children with hearing loss also had impaired physical and social functioning (PedsQL), vision, hearing, dexterity, and ambulation (HUI3). Correlations between instruments were poor to moderate, with low agreement. CONCLUSIONS: Children with low language and congenital hearing loss might benefit from interventions targeting overall health and well-being, not just their impairments. The HUI3 and PedsQL each seemed to provide unique information and thus may supplement each other in assessing HRQoL of young children, including those with low language or congenital hearing loss.

Speech in children with cerebral palsy.

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<0.001) and oromotor function (p<0.001) (Spearman's test). INTERPRETATION: The speech profile of children with CP is characterized by impairment at multiple levels of speech production (phonetic, cognitive-linguistic, neuromuscular execution, and high-level planning/programming), highlighting the importance of a personalized differential diagnosis informing targeted treatment.

Vocabulary Development and Trajectories of Behavioral and Emotional Difficulties Via Academic Ability and Peer Problems.

This study investigates associations between trajectories of children's vocabulary development and subsequent behavioral and emotional difficulties via two potential mediating mechanisms; literacy and peer problems. Nationally representative data from 4,983 Australian children were used to examine trajectories of receptive vocabulary (4-5, 6-7, and 8-9 years) and hyperactivity-inattention, conduct problems and emotional symptoms (8-9, 10-11, 12-13, 14-15 years), and literacy and peer problems (8-9 years). Lower growth in vocabulary was related to trajectories of hyperactivity-inattention, conduct problems, and emotional symptoms. Literacy was a key mediator explaining these associations. Results were consistent for children below the 50th percentile for vocabulary at 4-5 years compared to the full sample. These findings suggest that early literacy-based interventions may alleviate declining academic, emotional and behavioral functioning in adolescence.

How many words are Australian children hearing in the first year of life?

BACKGROUND: There is evidence that parents from more socioeconomically disadvantaged backgrounds engage in fewer verbal interactions with their child than more advantaged parents. This leads to the so-called, '30 million-word gap'. This study aims to investigate the number of words children hear and the number of vocalizations children produce in their first year of life and examines whether these aspects of the early language home environment differ by maternal education. METHODS: Mothers were recruited into a five-year prospective cohort study and categorized into either high or low maternal education groups. Data was derived from the first two waves of the study, when the children were six and twelve months old. At both waves, children were involved in day-long audio recordings using the Language Environment Analysis software that provided automatic counts of adult words spoken to the child, child vocalizations and conversational turns. Descriptive results are presented by maternal education groups. RESULTS: There was large variation within each maternal education group, with the number of adult words spoken to the child ranging from 2958 to 39,583 at six months and 4389 to 45,849 at twelve months. There were no meaningful differences between adult words, child vocalizations or conversational turns across maternal education groups at either wave of data collection. CONCLUSIONS: These results show that a word gap related to maternal education is not apparent up to twelve months of age. The large variability among both maternal education groups suggests that universal interventions that encourage all parents to talk more to their child may be more appropriate than interventions targeted towards disadvantaged families during the first year of life.

The development and validation of the Short Language Measure (SLaM): A brief measure of general language ability for children in their first year at school.

BACKGROUND: There is no sufficiently accurate short-language measure that could be used by speech-language pathologists, teachers or paraprofessionals to screen young school-aged children to identify those requiring in-depth language evaluations. This may be due to poor development of the available measures, which have omitted crucial test development steps. Applying more stringent development procedures could result in a measure with sufficient accuracy. AIMS: To create and validate a short-language measure that has acceptable accuracy, validity and reliability, and which can be used to identify children who require further assessment and/or referral to speech-language services. METHODS & PROCEDURES: The study consisted of two phases. In Phase 1 (measure creation), 56 children were assessed with 160 direction-following and sentence-recall test items and a reference measure, the Clinical Evaluation of Language Fundamentals-Fourth Edition (CELF-4). Items were then examined for their individual characteristics (validity, reliability, difficulty and discrimination) via item analysis and the highest quality items were selected to form the Short Language Measure (SLaM). In Phase 2 (measure validation), 126 children were assessed with the SLaM and the reference measure (CELF-4) to determine SLaM's accuracy, validity and reliability. OUTCOMES & RESULTS: A total of 40 test items were selected to form SLaM in Phase 1. Findings from Phase 2 indicated that SLaM had an accuracy of 94% (sensitivity = 94%, specificity = 93%), validity of 0.89 and reliability of 0.93. These values remained relatively consistent across both phases. CONCLUSIONS & IMPLICATIONS: The results indicated that SLaM has excellent psychometric properties. It can be used to identify children who need further evaluation by a speech-language pathologist. What this paper adds What is already known on this subject Prior research suggests that combining a direction-following and a sentence-recall task has sufficient discrimination accuracy and agreement with an omnibus language measure. Trialling a large set of direction-following and sentence-recall test items to select those with the highest individual characteristics could result in an effective short-language measure. What this paper adds to existing knowledge A short-language measure (SLaM) was created and validated on two independent samples of children. Items with the highest validities, reliabilities and discrimination capacities were selected to form SLaM. This procedure resulted in a measure with high validity and reliability that exceeded the criterion for adequate discrimination accuracy. What are the potential or actual clinical implications of this work? SLaM is an effective measure that can accurately identify children who require detailed evaluations by speech-language pathologists.

Predicting speech-sound disorder outcomes in school-age children with hearing loss: The VicCHILD experience.

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.

Communication behaviours of children with cerebral palsy who are minimally verbal.

BACKGROUND: There is a lack of population-based studies exploring the communicative behaviours of minimally verbal children with cerebral palsy (CP), with factors associated with superior and poorer communication outcomes unknown. This study aimed to examine the communication behaviours of minimally verbal children with CP recruited from a representative community sample and to identify factors associated with communication outcomes. METHODS: Twenty minimally verbal children aged 5-6 years, recruited through the Victorian Cerebral Palsy Register, completed the Communication and Symbolic Behaviour Scales-Developmental Profile (CSBS-DP). Linear regressions examined child-related and environmental factors associated with communication outcomes. RESULTS: CSBS-DP total raw scores ranged from 0 to 113. Strengths were the use of conventional gestures and understanding of language. Challenges were noted in using sequential action schemes during play. Communication typically served to regulate the behaviour of others. All participants demonstrated reduced functional communication (Communication Function Classification System levels III-IV). In the multivariable regression model adjusted for cognition, poorer communication skills were associated with Manual Ability Classification System levels IV-V (P = 0.004). CONCLUSIONS: Although some children with CP who are minimally verbal use a variety of communication functions, significant functional limitations may be apparent. Severe upper limb impairment may provide an early indication of greater communication difficulties.

Personal health information in research: Perceived risk, trustworthiness and opinions from patients attending a tertiary healthcare facility.

BACKGROUND: Personal health information is a valuable resource to the advancement of research. In order to achieve a comprehensive reform of data infrastructure in Australia, both public engagement and building social trust is vital. In light of this, we conducted a study to explore the opinions, perceived risks and trustworthiness regarding the use of personal health information for research, in a sample of the public attending a tertiary healthcare facility. METHODS: The Consumer Opinions of Research Data Sharing (CORDS) study was a questionnaire-based design with 249 participants who were attending a public tertiary healthcare facility located on the Gold Coast, Australia. The questionnaire was designed to explore opinions and evaluate trust and perceived risk in research that uses personal health information. Concept analysis was used to identify key dimensions of perceived risk. RESULTS: Overall participants were supportive of research, highly likely to participate and mostly willing to share their personal health information. However, where the perceived risk of data misuse was high and trust in others was low, participants expressed hesitation to share particular types of information. Performance, physical and privacy risks were identified as key dimensions of perceived risk. CONCLUSION: This study highlights that while participant views on the use of personal health information in research is mostly positive, where there is perceived risk in an environment of low trust, support for research decreases. The three key findings of this research are that willingness to share data is contingent upon: (i) data type; (ii) risk perception; and (iii) trust in who is accessing the data. Understanding which factors play a key role in a person's decision to share their personal health information for research is vital to securing a social license.

Validation of Dodd's Model for Differential Diagnosis of childhood speech sound disorders: a longitudinal community cohort study.

AIM: 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. METHOD: 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. RESULTS: 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. INTERPRETATION: 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. WHAT THIS PAPER ADDS: 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.