The Association Between Stuttering Burden and Psychosocial Aspects of Life in Adults.

PURPOSE: Stuttering is a speech condition that can have a major impact on a person's quality of life. This descriptive study aimed to identify subgroups of people who stutter (PWS) based on stuttering burden and to investigate differences between these subgroups on psychosocial aspects of life. METHOD: The study included 618 adult participants who stutter. They completed a detailed survey examining stuttering symptomatology, impact of stuttering on anxiety, education and employment, experience of stuttering, and levels of depression, anxiety, and stress. A two-step cluster analytic procedure was performed to identify subgroups of PWS, based on self-report of stuttering frequency, severity, affect, and anxiety, four measures that together inform about stuttering burden. RESULTS: We identified a high- (n = 230) and a low-burden subgroup (n = 372). The high-burden subgroup reported a significantly higher impact of stuttering on education and employment, and higher levels of general depression, anxiety, stress, and overall impact of stuttering. These participants also reported that they trialed more different stuttering therapies than those with lower burden. CONCLUSIONS: Our results emphasize the need to be attentive to the diverse experiences and needs of PWS, rather than treating them as a homogeneous group. Our findings also stress the importance of personalized therapeutic strategies for individuals with stuttering, considering all aspects that could influence their stuttering burden. People with high-burden stuttering might, for example, have a higher need for psychological therapy to reduce stuttering-related anxiety. People with less emotional reactions but severe speech distortions may also have a moderate to high burden, but they may have a higher need for speech techniques to communicate with more ease. Future research should give more insights into the therapeutic needs of people highly burdened by their stuttering. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.25582980.

Screen Time and Parent-Child Talk When Children Are Aged 12 to 36 Months.

Importance: Growing up in a language-rich home environment is important for children's language development in the early years. The concept of "technoference" (technology-based interference) suggests that screen time may be interfering with opportunities for talk and interactions between parent and child; however, limited longitudinal evidence exists exploring this association. Objective: To investigate the longitudinal association between screen time and 3 measures of parent-child talk (adult words, child vocalizations, and conversational turns) when children are 12 to 36 months of age. Design, Setting, and Participants: This Australian prospective cohort study used advanced speech recognition technology to capture young children's screen time and home language environment, on an average 16-hour day. Data were collected from 220 families once every 6 months in the family home when children were 12, 18, 24, 30, and 36 months of age, from January 1, 2018, to December 31, 2021. Statistical analysis took place from November 1, 2022, to July 31, 2023. Exposure: Language Environment Analysis (LENA) technology provided automated counts of children's language environment and exposure to electronic noise. The exposure of interest was screen time, which was calculated based on manual coding of LENA electronic noise audio segments. Main Outcomes and Measures: Three measures of parent-child talk were outcomes of focus: adult words, child vocalizations, and conversational turns. Separate models were run for each of the 3 outcomes and included adjustment for child sex, child age, maternal educational level, number of children at home, number of home activities, and primary caregiver's psychological distress. Results: The study included 220 families (120 girls [54.6%]; mean [SD] gestational age of children, 39.3 [1.5] weeks; mean [SD] age of mother at childbirth, 31.3 [4.8] years). Adjusted linear mixed-effect models demonstrated that increases in screen time were associated with decreases in measures of parent-child talk. The largest decreases were seen at 36 months, when an additional minute of screen time was associated with a reduction of 6.6 (95% CI, -11.7 to -1.5) adult words, 4.9 (95% CI, -6.1 to -3.7) child vocalizations, and 1.1 (95% CI, -1.4 to -0.8) conversational turns. Conclusion and Relevance: Findings of this study support the notion of technoference for Australian families, whereby young children's exposure to screen time is interfering with opportunities to talk and interact in their home environment. This finding has implications for interventions and supports aimed at promoting a language-rich home environment, with families needing support in understanding the potential association of screen time with opportunities for children and adults to talk and interact in their home environment.

Genome-Wide Analyses of Vocabulary Size in Infancy and Toddlerhood: Associations With Attention-Deficit/Hyperactivity Disorder, Literacy, and Cognition-Related Traits.

BACKGROUND: The number of words children produce (expressive vocabulary) and understand (receptive vocabulary) changes rapidly during early development, partially due to genetic factors. Here, we performed a meta-genome-wide association study of vocabulary acquisition and investigated polygenic overlap with literacy, cognition, developmental phenotypes, and neurodevelopmental conditions, including attention-deficit/hyperactivity disorder (ADHD). METHODS: We studied 37,913 parent-reported vocabulary size measures (English, Dutch, Danish) for 17,298 children of European descent. Meta-analyses were performed for early-phase expressive (infancy, 15-18 months), late-phase expressive (toddlerhood, 24-38 months), and late-phase receptive (toddlerhood, 24-38 months) vocabulary. Subsequently, we estimated single nucleotide polymorphism-based heritability (SNP-h2) and genetic correlations (rg) and modeled underlying factor structures with multivariate models. RESULTS: Early-life vocabulary size was modestly heritable (SNP-h2 = 0.08-0.24). Genetic overlap between infant expressive and toddler receptive vocabulary was negligible (rg = 0.07), although each measure was moderately related to toddler expressive vocabulary (rg = 0.69 and rg = 0.67, respectively), suggesting a multifactorial genetic architecture. Both infant and toddler expressive vocabulary were genetically linked to literacy (e.g., spelling: rg = 0.58 and rg = 0.79, respectively), underlining genetic similarity. However, a genetic association of early-life vocabulary with educational attainment and intelligence emerged only during toddlerhood (e.g., receptive vocabulary and intelligence: rg = 0.36). Increased ADHD risk was genetically associated with larger infant expressive vocabulary (rg = 0.23). Multivariate genetic models in the ALSPAC (Avon Longitudinal Study of Parents and Children) cohort confirmed this finding for ADHD symptoms (e.g., at age 13; rg = 0.54) but showed that the association effect reversed for toddler receptive vocabulary (rg = -0.74), highlighting developmental heterogeneity. CONCLUSIONS: The genetic architecture of early-life vocabulary changes during development, shaping polygenic association patterns with later-life ADHD, literacy, and cognition-related traits.

Self-Reported Stuttering Severity Is Accurate: Informing Methods for Large-Scale Data Collection in Stuttering.

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

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.

Diagnostic Accuracy and economic value of a Tiered Assessment for Fetal Alcohol Spectrum Disorder (DATAforFASD): Protocol.

INTRODUCTION: Australian practices for diagnosing fetal alcohol spectrum disorder (FASD) are lengthy and require specialist expertise. Specialist teams are based in urban locations; they are expensive and have prolonged waitlists. Innovative, flexible solutions are needed to ensure First Nations children living in rural/remote communities have culturally appropriate and equitable access to timely diagnosis and support. This study compares the accuracy of rapid assessments (index tests) that can be administered by a range of primary healthcare practitioners to specialist standardised FASD assessments (reference tests). The cost-efficiency of index tests will be compared with reference tests. METHODS AND ANALYSIS: At least 200 children aged 6-16 years at-risk of FASD will be recruited across at least seven study sites. Following standards for reporting diagnostic accuracy study (STARD) guidelines, all children will complete index and reference tests. Diagnostic accuracy statistics (including receiver operating curves, sensitivity, specificity, positive and negative predictive values and likelihood ratios) will identify whether rapid assessments can accurately identify: (1) the presence of an FASD diagnosis and (2) impairment in each neurodevelopmental domain, compared to comprehensive assessments. Direct and indirect healthcare costs for index tests compared to reference tests will be collected in primary healthcare and specialist settings. ETHICS AND DISSEMINATION OF RESULTS: Children's Health Queensland Hospital and Health Service Human Research Ethics Committee (HREC/20/QCHQ/63173); Griffith University Human Research Ethics Committee (2020/743). Results will assist in validating the use of index tests as part of a tiered neurodevelopmental assessment process that was co-designed with First Nations community and primary healthcare practitioners. Outcomes will be summarised and provided to participating practitioners and sites, and disseminated to community health services and consumers. Findings will be presented at national and international conferences and published in peer-reviewed journals. TRIAL REGISTRATION NUMBER: ACTRN12622000498796.

Spoken Expressive Vocabulary in 2-Year-Old Children with Hearing Loss: A Community Study.

Through a cross-sectional community study of 2044 children aged 2 years, we (1) examine the impact of hearing loss on early spoken expressive vocabulary outcomes and (2) investigate how early intervention-related factors impact expressive vocabulary outcomes in children with hearing loss predominantly identified through universal newborn hearing screening. We used validated parent/caregiver-reported checklists from two longitudinal cohorts (302 children with unilateral or bilateral hearing loss, 1742 children without hearing loss) representing the same population in Victoria, Australia. The impact of hearing loss and amplification-related factors on vocabulary was estimated using g-computation and multivariable linear regression. Children with versus without hearing loss had poorer expressive vocabulary scores, with mean scores for bilateral loss 0.5 (mild loss) to 0.9 (profound loss) standard deviations lower and for unilateral loss marginally (0.1 to 0.3 standard deviations) lower. For children with hearing loss, early intervention and amplification by 3 months, rather than by 6 months or older, resulted in higher expressive vocabulary scores. Children with hearing loss demonstrated delayed spoken expressive vocabulary despite whole-state systems of early detection and intervention. Our findings align with calls to achieve a 1-2-3 month timeline for early hearing detection and intervention benchmarks for screening, identification, and intervention.

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?

Objectively measured infant and toddler screen time: Findings from a prospective study.

Objective: Screen time guidelines recommend no screens under two years due to the potential negative impacts on development. While current reports suggest many children exceed this, research relies on parent reports of their children's screen exposure. We objectively assess screen exposure during the first two years and how it differs by maternal education and gender. Methods: This Australian prospective cohort study used speech recognition technology to understand young children's screen exposure over an average day. Data collection occurred every six months when children were 6, 12, 18 and, 24 months old (n = 207). The technology provided automated counts of children's exposure to electronic noise. Audio segments were then coded as screen exposure. Prevalence of screen exposure was quantified, and differences between demographics examined. Results: At six months, children were exposed to an average of 1hr, 16 min (SD = 1hr, 36 min) of screens per day, increasing to an average of 2 h, 28 min (SD = 2 h, 4 min) by 24-months. Some children at six months were exposed to more than 3 h of screen time per day. Inequalities in exposure were evident as early as six months. Children from higher educated families were exposed to 1hr,43 min fewer screens per day, 95%CI (-2hr, 13 min, -1hr, 11 min) compared to lower educated households, with this difference remaining consistent as children age. Girls were exposed to an additional 12 min of screens 95%CI (-20 min, 44 min) per day compared to boys at six months, but this difference reduced to only 5 min by 24-months. Conclusion: Using an objective measure of screen exposure, many families exceed screen time guidelines, the extent increasing with child's age. Furthermore, substantial differences between maternal education groups emerge as young as six months old. This highlights the need for education and supports for parents around screen use in the early years, balanced within the realities of modern life.

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.

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.

Developing a strategy to improve data sharing in health research: A mixed-methods study to identify barriers and facilitators.

BACKGROUND: Data sharing presents new opportunities across the spectrum of research and is vital for science that is open, where data are easily discoverable, accessible, intelligible, reproducible, replicable and verifiable. Despite this, it is yet to become common practice. Global efforts to develop practical guidance for data sharing and open access initiatives are underway, however evidence-based studies to inform the development and implementation of effective strategies are lacking. OBJECTIVE: This study sought to determine the barriers and facilitators to data sharing among health researchers and to identify the target behaviours for designing a behaviour change intervention strategy. METHOD: Data were drawn from a cross-sectional survey of data management practices among health researchers from one Australian research institute. Determinants of behaviour were theoretically derived using well-established behavioural models. RESULTS: Data sharing practices have been described for 77 researchers, and 6 barriers and 4 facilitators identified. The primary barriers to data sharing included perceived negative consequences and lack of competency to share data. The primary facilitators to data sharing included trust in others using the data and social influence related to public benefit. Intervention functions likely to be most effective at changing target behaviours were also identified. CONCLUSION: Results of this study provide a theoretical and evidence-based process to understand the behavioural barriers and facilitators of data sharing among health researchers. IMPLICATIONS: Designing interventions that specifically address target behaviours to promote data sharing are important for open researcher practices.

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.

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.

Developing Preschool Language Surveillance Models - Cumulative and Clustering Patterns of Early Life Factors in the Early Language in Victoria Study Cohort.

BACKGROUND: Screening and surveillance of development are integral to ensuring effective early identification and intervention strategies for children with vulnerabilities. However, not all developmental skills have reliable screening processes, such as early language ability. METHOD: We describe how a set of early life factors used in a large, prospective community cohort from Australia are associated with language abilities across the preschool years, and determine if either an accumulation of risk factors or a clustering of risk factors provide a feasible approach to surveillance of language development in preschool children. RESULTS: There were 1,208 children with a 7-year language outcome. The accumulation of early life factors increased the likelihood of children having low language skills at 7-years. Over a third of children with typical language skills (36.6%) had ≤ two risks and half of the children with low language (50%) had six or more risks. As the number of factors increases the risk of having low language at 7-years increases, for example, children with six or more risks had 17 times greater risk, compared to those with ≤ two risks. Data collected from 1,910 children at 8- to 12-months were used in the latent class modeling. Four profile classes (or groups) were identified. The largest group was developmentally enabled with a supportive home learning environment (56.2%, n = 1,073). The second group was vulnerable, both developmentally and in their home learning environment (31.2%, n = 596); the third group was socially disadvantaged with a vulnerable home learning environment (7.4%, n = 142); the final group featured maternal mental health problems and vulnerable child socio-emotional adjustment (5.2%, n = 99). Compared to developmentally enabled children, the risk of low language at 7-years was greater for children in the three other groups. CONCLUSION: The cumulative and cluster risk analyses demonstrate the potential to use developmental surveillance to identify children within the first years of life who are at risk of language difficulties. Importantly, parent-child interaction and the home learning environment emerged as a consistent cluster. We recommend they be adopted as the common focus for early intervention and universal language promotion programs.

Oromotor dysfunction in minimally verbal children with cerebral palsy: characteristics and associated factors.

AIM: 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. METHODS: 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). RESULTS: 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 (p = 0.001), reduced communication skills (p = 0.002), and a prolonged eating duration (>45 min) (p = 0.006), even when non-verbal cognition served as a covariate. INTERPRETATION: 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.

Health-related quality of life of caregivers of children with low language: Results from two Australian population-based studies.

Purpose: To examine (1) the association between low language (LL) and caregiver's health-related quality of life (HRQoL), (2) whether persistent LL affects caregiver's HRQoL and (3) whether child social-emotional-behavioural (SEB) difficulties attenuates the association between LL and caregiver's HRQoL.Method: Data were from the Early Language in Victoria Study (ELVS) and the Longitudinal Study of Australian Children (LSAC). Caregiver's HRQoL was measured using the EuroQoL-5 dimensions and the Assessment of Quality of Life-8 dimensions. Language ability was determined using the Clinical Evaluation of Language Fundamentals (CELF)-Preschool-2nd or 4th edition (ELVS) and the Peabody Picture Vocabulary Test-3rd edition or CELF-4 recalling sentences subscale (LSAC). Child SEB difficulties were measured using the Strengths and Difficulties Questionnaire. Multivariable linear regression was used for the analysis.Result: At 11-12 years, an association between LL and reduced caregiver's HRQoL was found in LSAC, but not in ELVS. Persistent LL from 4-11 years seemed to not affect caregivers' HRQoL in either cohort. Child SEB difficulties attenuated the association between caregiver's HRQoL and LL.Conclusion: Both LL and SEB difficulties contributed to reduced caregiver's HRQoL at children age 11-12 years. Interventions supporting children with LL should consider caregiver's well-being in provision of care that meets families' needs.

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.

Intimate partner violence and child outcomes at age 10: a pregnancy cohort.

OBJECTIVE: Assess the mental health, physical health, cognitive and language development of 10-year old children in families where mothers have reported intimate partner violence (IPV) compared with children with no reported IPV exposure. DESIGN: Prospective pregnancy cohort. Maternal report of IPV (Composite Abuse Scale) at 1, 4 and 10 years. Maternal and direct assessment of child mental health (probable psychiatric diagnosis, anxiety and emotional/behavioural difficulties), cognition (IQ and executive function), language (general, pragmatic and receptive) and physical health at 10 years. SETTING: A subsample of 615 mother-child dyads drawn from a pregnancy cohort of 1507 nulliparous women recruited from six public hospitals in Melbourne, Australia. RESULTS: Any IPV exposure from infancy to age 10 was associated with poorer child outcomes at age 10. Specifically, twice the odds of a probable psychiatric diagnosis, emotional/behavioural difficulties, impaired language skills (general and pragmatic), and having consulted a health professional about asthma or sleep problems. IPV exposure at age 10 associated with two to three times higher odds of all mental health outcomes, elevated blood pressure and sleep problems. Early life exposure alone (at 1 and/or 4 years) associated with three times higher odds of a general language problem and asthma at age 10. CONCLUSION: The high prevalence of IPV and increased risk of poorer health and development among children exposed highlights the burden of ill health carried by children in families experiencing IPV. Fewer difficulties where exposure was limited to the early years builds the case for better identification, understanding and resourcing of effective early intervention.