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All talkers show some flexibility in their speech, and the ability to imitate an unfamiliar accent is a skill that shows vast individual differences. Yet the source of these individual differences, in particular whether they originate from perceptual, motor, or social/personality factors, is not yet clear. In the current study, we ask how individual differences in these factors predict individual differences in deliberate accent imitation. Participants imitated three accents, and attempts were rated for accuracy. A set of measures tracking individual differences in perceptual, motor, cognitive, personality, and demographic factors were also acquired. Imitation ability was related to differences in musical perception, vocal articulation, and the personality characteristic of "openness to experience," and was affected by attitudes towards the imitated talkers. Taken together, results suggest that deliberate accent imitation skill is modulated not only by core perceptual and motor skills, but also by personality and affinity to the talker, suggesting that some aspects of deliberate imitation are a function of domain-general constraints on perceptual-motor systems, while others may be modulated by social context.

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BACKGROUND: Stimulation-induced dysarthria (SID) is a troublesome and potentially therapy-limiting side effect of deep brain stimulation of the subthalamic nucleus (STN-DBS) in patients with Parkinson's disease (PD). To date, the origin of SID, and especially whether there is an involvement of cerebellar pathways as well as the pyramidal tract, remains a matter of debate. Therefore, this study aims to shed light on structural networks associated with SID and to derive a data-driven model to predict SID in patients with PD and STN-DBS. METHODS: Randomised, double-blinded monopolar reviews determining SID thresholds were conducted in 25 patients with PD and STN-DBS. A fibre-based mapping approach, implementing the calculation of fibr-wise ORs for SID, was employed to identify the distributional pattern of SID in the STN's vicinity. The ability of the data-driven model to classify stimulation volumes as 'causing SID' or 'not causing SID' was validated by calculating receiver operating characteristics (ROC) in an independent out-of-sample cohort comprising 14 patients with PD and STN-DBS. RESULTS: Local fibre-based stimulation maps showed an involvement of fibres running lateral and posteromedial to the STN in the pathogenesis of SID, independent of the investigated hemisphere. ROC analysis in the independent out-of-sample cohort resulted in a good fit of the data-driven model for both hemispheres (area under the curve (AUC)left=0.88, AUCright=0.88). CONCLUSIONS: This study reveals an involvement of both, cerebello-thalamic fibres, as well as the pyramidal tract, in the pathogenesis of SID in STN-DBS. The results may impact future postoperative programming strategies to avoid SID in patients with PD and STN-DBS TRIAL REGISTRATION NUMBER: DRKS00023221; German Clinical Trials Register (DRKS) Number.

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

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RESUMO Objetivo Investigar evidências de validade de construto para um Instrumento de Avaliação Fonológica para o Português Brasileiro, baseadas nos dados de diagnóstico gerados por sua própria aplicação a partir da análise contrastiva e do grau de severidade de fala. Método A amostra foi composta por dados de 176 crianças, com idades entre cinco até nove anos. Foram avaliadas pelo Instrumento de Avaliação Fonológica e classificadas em com transtorno fonológico ou em desenvolvimento fonológico típico, comparando tais resultados aos critérios para o transtorno no DSM-5. A busca por evidências da validade de construto contou com a concordância entre os dois métodos de avaliação, aplicando o Coeficiente Kappa. Para a diferenciação entre os grupos, utilizou-se o teste t de Student para amostras independentes. Buscou-se a investigação dos índices do instrumento pela estatística da Curva de Receiver Operating Characteristic para obter valores de área, ponto de corte, sensibilidade, especificidade, acurácia, valor preditivo positivo e negativo. Resultados O instrumento apresentou concordância e diferenciação significativa entre as classificações. Quanto aos parâmetros de desempenho, exibe ponto de corte para diagnóstico com resultados iguais ou maiores do que 96,17%, excelente valor de área sob a curva, assim como percentuais satisfatórios para as outras análises investigadas. Conclusão O conjunto de dados encontrados indicam evidências para validade de construto do Instrumento de Avaliação Fonológica, apresentando uma contribuição útil e válida ao arsenal de avaliação clínica e de pesquisa envolvendo diagnóstico de Transtorno Fonológico e, com seu resultado de acurácia, contribuiu as propriedades de desempenho dos instrumentos utilizados na Fonoaudiologia.

ABSTRACT Purpose To investigate evidence of construct validity for a Phonological Assessment Instrument for Brazilian Portuguese, based on the diagnostic data generated by its application from contrastive analysis and speech severity. Methods The sample consisted of 176 children, aged between five to nine years old. They were evaluated with the Phonological Assessment Instrument and then classified as having Speech Sound Disorder or in typical phonological development, comparing these results to the criteria described for the disorder in the DSM-5. The search for evidence of construct validity relied on the agreement between the two assessment methods while applying the Kappa Coefficient. To differentiate between groups, Student's t-test was used for independent samples. We sought to investigate the instrument indexes using the Receiver Operating Characteristic Curve statistics to obtain values for area, cut-off point, sensitivity, specificity, accuracy, and positive and negative predictive value. Results The instrument showed agreement and significant differentiation between the classifications. As for the performance parameters, it shows a cut-off point for diagnosis with results equal to or greater than 96.17%, an excellent area under the curve, as well as satisfactory percentages for the other analyses investigated. Conclusion The data indicated evidence for the construct validity of the Phonological Assessment Instrument, presenting a useful and valid contribution to the arsenal of clinical assessment and research involving the diagnosis of Speech Sound Disorder and, with its accuracy result, contributed to the properties of performance of instruments used in Speech, Language and Hearing Sciences.

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Background: Speech articulation difficulties have not traditionally been considered to be a feature of Autism Spectrum Disorder (ASD). In contrast, speech prosodic differences have been widely reported in ASD, and may even be expressed in subtle form among clinically unaffected first-degree relatives, representing the expression of underlying genetic liability. Some evidence has challenged this traditional dichotomy, suggesting that differences in speech articulatory mechanisms may be evident in ASD, and potentially related to perceived prosodic differences. Clinical measurement of articulatory skills has traditionally been phoneme-based, rather than by acoustic measurement of motor control. Subtle differences in articulatory/motor control, prosodic characteristics (acoustic), and pragmatic language ability (linguistic) may each be contributors to differences perceived by listeners, but the interrelationship is unclear. In this study, we examined the articulatory aspects of this relationship, in speech samples from individuals with ASD and their parents during narration. Method: Using Speechmark® analysis, we examined articulatory landmarks, fine-grained representations of articulatory timing as series of laryngeal and vocal-tract gestures pertaining to prosodic elements crucial for conveying pragmatic information. Results: Results revealed articulatory timing differences in individuals with ASD but not their parents, suggesting that although potentially not influenced by broader genetic liability to ASD, subtle articulatory differences may indeed be evident in ASD as the recent literature indicates. A follow-up path analysis detected associations between articulatory timing differences and prosody, and subsequently, pragmatic language ability. Conclusion: Together, results suggest a complex relationship where subtle differences in articulatory timing may result in atypical acoustic signals, and serve as a distal mechanistic contributor to pragmatic language ability ASD.

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The tongue is one of the organs most central to human speech. Here, the evolution and species-unique properties of the human tongue is traced, via reference to the apparent articulatory behavior of extant non-human great apes, and fossil findings from early hominids - from a point of view of articulatory phonetics, the science of human speech production. Increased lingual flexibility provided the possibility of mapping of articulatory targets, possibly via exaptation of manual-gestural mapping capacities evident in extant great apes. The emergence of the human-specific tongue, its properties, and morphology were crucial to the evolution of human articulate speech.

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INTRODUCTION: The purpose of this study was to assess speech perturbation and adaptation for patients wearing modified C-palatal plates (MCPPs) over time. METHODS: The sample consisted of 40 patients, 20 wearing MCPPs as the experimental group (age: 20.7 ± 5.8 years) and 20 patients wearing a transpalatal arch (TPA) as the control group (age: 21.5 ± 6.4 years). The sounds /t/, /d/, /s/, /n/, /r/, /tʃ/. and /j/ were recorded for each patient at six time points: immediately before (T0) and after (T1) appliance placement; then 1, 2, 3 and 4 weeks after placement (T2-T5). Acoustic analysis of pitch and voice onset time (VOT) was performed by Praat software. Repeated measures analysis of variance (RM-ANOVA) was used to assess changes in the pitch and VOT over time and the difference between the appliances. RESULTS: With the MCPP appliance, /n/, /r/, /tʃ/ and /j/ decreased in VOT starting in the first week while /t/ and /s/ almost returned to pre-treatment levels after 2 weeks. VOT for the /d/ sound did not change between T0 and T3, but it decreased after 3 weeks. There were no significant differences in pitch and VOT between the two groups at any time point. CONCLUSIONS: Wearing an MCPP device caused patients to initially distort the articulation of several sounds, but the distortion dissipated within 1 to 2 weeks. It is recommended that patients and/or their parents be advised during pre-treatment counselling of the possibility of temporary speech changes with MCPP placement.

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Speech processing entails a complex interplay between bottom-up and top-down computations. The former is reflected in the neural entrainment to the quasi-rhythmic properties of speech acoustics while the latter is supposed to guide the selection of the most relevant input subspace. Top-down signals are believed to originate mainly from motor regions, yet similar activities have been shown to tune attentional cycles also for simpler, non-speech stimuli. Here we examined whether, during speech listening, the brain reconstructs articulatory patterns associated to speech production. We measured electroencephalographic (EEG) data while participants listened to sentences during the production of which articulatory kinematics of lips, jaws and tongue were also recorded (via Electro-Magnetic Articulography, EMA). We captured the patterns of articulatory coordination through Principal Component Analysis (PCA) and used Partial Information Decomposition (PID) to identify whether the speech envelope and each of the kinematic components provided unique, synergistic and/or redundant information regarding the EEG signals. Interestingly, tongue movements contain both unique as well as synergistic information with the envelope that are encoded in the listener's brain activity. This demonstrates that during speech listening the brain retrieves highly specific and unique motor information that is never accessible through vision, thus leveraging audio-motor maps that arise most likely from the acquisition of speech production during development.

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PURPOSE: The relationship between ankyloglossia and speech is controversial. Our objective in the present study was to determine the most appropriate intervention and optimal timing for infants with speech articulation caused by ankyloglossia. PATIENTS AND METHODS: A total of 341 pediatric patients (aged 2 to 5 years) being referred for speech concerns due to ankyloglossia were enrolled in a randomized trial and assigned to either a surgical intervention (N = 166) or a no surgical intervention (N = 175) group. Subsequently, patients were further categorized into 3 groups according to age: 2 to < 3 years, 3 to < 4 years, and 4 to < 5 years. Measures of tongue appearance, tongue mobility, speech production, and parent and clinician intelligibility ratings were collected at preintervention (T0), 2-month postintervention (T1), 6-month postintervention (T2), and 12-month postintervention (T3). RESULTS: No statistically significant difference was found between surgical intervention and no surgical intervention groups for tongue appearance, tongue mobility, speech production, and intelligibility in the 2 to < 3 years age. However, there was significantly improved speech production and intelligibility in the surgical intervention group when compared to the no surgical intervention group in the 3 to < 4 and 4 to < 5 years old age. CONCLUSION: Surgical intervention should not be performed too early for infants aged 2 to < 3 years with speech articulation caused by ankyloglossia, but rather watch and wait for the physiological growth of the lingual frenulum. The optimal timing range for surgical intervention is 4 to 5 years. This should provide certain significant guidance for infants with speech articulation caused by ankyloglossia.

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Vocal tract elongation, which uniformly lowers vocal tract resonances (formant frequencies) in animal vocalizations, has evolved independently in several vertebrate groups as a means for vocalizers to exaggerate their apparent body size. Here, we propose that smaller speech-like articulatory movements that alter only individual formants can serve a similar yet less energetically costly size-exaggerating function. To test this, we examine whether uneven formant spacing alters the perceived body size of vocalizers in synthesized human vowels and animal calls. Among six synthetic vowel patterns, those characterized by the lowest first and second formant (the vowel /u/ as in 'boot') are consistently perceived as produced by the largest vocalizer. Crucially, lowering only one or two formants in animal-like calls also conveys the impression of a larger body size, and lowering the second and third formants simultaneously exaggerates perceived size to a similar extent as rescaling all formants. As the articulatory movements required for individual formant shifts are minor compared to full vocal tract extension, they represent a rapid and energetically efficient mechanism for acoustic size exaggeration. We suggest that, by favouring the evolution of uneven formant patterns in vocal communication, this deceptive strategy may have contributed to the origins of the phonemic diversification required for articulated speech. This article is part of the theme issue 'Voice modulation: from origin and mechanism to social impact (Part II)'.

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OBJECTIVE: The relationship between ankyloglossia and speech is controversial. The objective of this study was to determine the effect of tongue-tie release on speech articulation and intelligibility. METHODS: A prospective cohort study was conducted. Pediatric patients (>2 years of age) being referred for speech concerns due to ankyloglossia were assessed by a pediatric otolaryngologist, and speech articulation was formally assessed by a speech language pathologist using the Goldman-Fristoe Test of Articulation 2 (GFTA-2). Patients then underwent a tongue-tie release procedure in clinic. After 1 month, speech articulation was reassessed with GFTA-2. Audio-recordings of sessions were evaluated by independent reviewers to assess speech intelligibility before and after tongue-tie release. RESULTS: Twenty-five participants were included (mean age 3.7 years; 20 boys). The most common speech errors identified were phonological substitutions (80%) and gliding errors (56%). Seven children (28%) had abnormal lingual-alveolar and interdental sounds. Most speech sound errors (87.9%) were age/developmentally appropriate. GFTA-2 standard scores before and after tongue-tie release were 85.61 (SD 9.75) and 87.54 (SD 10.21), respectively, (P=.5). Mean intelligibility scores before and after tongue-tie release were 3.15 (SD .22) and 3.21 (SD .31), respectively, (P=.43). CONCLUSION: The majority of children being referred for speech concerns thought to be due to ankyloglossia had age-appropriate speech errors at presentation. Ankyloglossia was not associated with isolated tongue mobility related speech articulation errors in a consistent manner, and there was no benefit of tongue-tie release in improving speech articulation or intelligibility.

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RESUMO Objetivo Apresentar o instrumento Kaufman Speech Praxis Test for Children - KSPT, bem como sua adaptação transcultural para o Brasil. Método Após a permissão de utilização do KSPT pela detentora dos direitos autorais, e cumprimento dos aspectos éticos, o instrumento foi traduzido e adaptado para o português brasileiro, com manutenção de equivalências semântica, idiomática, experimental e conceitual, quando pertinente. Resultados Após procedimentos de tradução e adaptação transcultural, não houve mudanças na Parte 1 (Nível de movimento oral); na Parte 2 (Nível silábico e fonêmico simples), 12 palavras-teste foram excluídas e 16 incluídas; e na Parte 3 (Nível silábico e fonêmico complexo), 13 palavras-teste foram excluídas por não apresentarem correspondência em relação às características de produção fonoarticulatória (fonético/fonológico) no Português Brasileiro. Na parte 4 (Extensão e complexidade espontânea - medida subjetiva) não houve alterações da versão em inglês do KSPT. Após todo o processo o material final foi aprovado pela autora e aplicado em crianças para a verificação da usabilidade e verificação de equivalências. A aplicação em população significativa no Brasil para a construção de critérios psicométricos será realizada em etapa futura. Conclusão A tradução do KSPT está finalizada com mudanças em palavras-teste do protocolo de aplicação, para respeitar as características transculturais da língua portuguesa falada no Brasil. Foram respeitadas as equivalências semântica, idiomática, experimental e conceitual, no manual de aplicação, guia de teste clínico e nos enunciados das provas. Espera-se que este instrumento integre avanços para o diagnóstico e acompanhamento de procedimentos de intervenção, trazendo uma contribuição efetiva para esta área.

ABSTRACT Purpose To present the Kaufman Speech Praxis Test for Children - KSPT instrument, as well as its Brazilian cross-cultural adaptation. Methods After obtaining permission to use the KSPT by the copyright holder, and compliance with ethical aspects, the instrument was translated and adapted into Brazilian Portuguese, preserving semantic, idiomatic, experimental and conceptual equivalences, when relevant. Results After translation and cross-cultural adaptation procedures, there were no changes in Part 1 (Oral movement); in Part 2 (Simple Phonemic and Syllabic Level), 12 test words were excluded and 16 were included; and in Part 3 (Complex Phonemic and Syllabic Level), 13 test words were excluded as they failed to correspond to the characteristics of phonoarticulatory production (phonetic/phonological) in Brazilian Portuguese. In part 4 (Spontaneous Length and Complexity - subjective measure) there were no changes to the English version of the KSPT. After the process, the final version of the material was approved by the author and applied to children for usability and equivalences check. The application to a significant population in Brazil for the construction of psychometric criteria will be carried out at a future stage. Conclusion The KSPT translation is completed with changes in test words from the application protocol to respect the cross-cultural characteristics of the Brazilian-Portuguese language. Semantic, idiomatic, experimental and conceptual equivalences were respected throughout the application manual, clinical test guide and test statements. This instrument is expected to integrate advances in the diagnosis and monitoring of intervention procedures, effectively contributing to the area.

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OBJECTIVE: The aim of this study was to evaluate changes in speech characteristics and self-perceived quality of speech in tooth wear patients, after occlusal rehabilitation. MATERIALS AND METHODS: Patients with tooth wear were included in this study after informed consent. The amount of tooth wear was scored with Tooth Wear Evaluation System (TWES). To assess the perspective of the patient, the Dutch Speech Handicap Index was used (SHI). Acoustic analysis was performed to evaluate changes with the use of voice recordings. These were made before treatment, T0; directly after treatment, T1; 1 month after treatment, T2. With the use of PRAAT software, the spectral characteristic centre of gravity (COG) was evaluated for the sounds /s/, /f/, /v/, /d/, /t/, /m/. RESULTS: Recordings of 17 patients (14 men, 3 women, mean age 41.2 ± 10.4 years) were included. SHI scores did not change significantly between T0 and T2 (p = 0.054). A multiple regression model showed that for all sounds the intercept was negative, but statistically significant only for /s/ and /f/ between T0 and T1. The effect of the initial change (between T0 and T1) on the change between T1 and T2 was clearly negative for all sounds (p < 0.001), showing a rebound effect ranging between 29 and 68% of the initial change. CONCLUSION: Tooth wear patients perceive improvement in speech function after treatment. CLINICAL SIGNIFICANCE: Clinicians may explain to patients that speech is likely to alter for a short period due to treatment but that there will be a good adaption to the new situation.

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Methyl mercury (MeHg) is a neurotoxicant that with sufficient exposure can seriously impair the central nervous system and cause mental retardation, cerebral palsy, and neuromotor dysfunction. The level of exposure needed to adversely affect the nervous system is unknown. Human exposure to low levels of MeHg is common from consumption of fish. We examined the relationship between MeHg exposure and development of articulatory-phonologic speech skills in children whose mothers consumed a diet high in fish during pregnancy to determine whether any adverse associations could be detected. A total of 544 children from the Republic of Seychelles were given a speech assessment when they were 66 months of age. Exposure level was determined by measuring MeHg in maternal hair growing during pregnancy. No adverse associations between articulatory- phonologic speech skills and prenatal MeHg exposure were detected. The findings of this investigation are compatible with previous developmental assessments of Seychellois children that have indicated no adverse effects of prenatal MeHg exposure from fish consumption.

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The extent that articulatory information embedded in incoming speech contributes to the formation of new perceptual categories for speech sounds has been a matter of discourse for decades. It has been theorized that the acquisition of new speech sound categories requires a network of sensory and speech motor cortical areas (the "dorsal stream") to successfully integrate auditory and articulatory information. However, it is possible that these brain regions are not sensitive specifically to articulatory information, but instead are sensitive to the abstract phonological categories being learned. We tested this hypothesis by training participants over the course of several days on an articulable non-native speech contrast and acoustically matched inarticulable nonspeech analogues. After reaching comparable levels of proficiency with the two sets of stimuli, activation was measured in fMRI as participants passively listened to both sound types. Decoding of category membership for the articulable speech contrast alone revealed a series of left and right hemisphere regions outside of the dorsal stream that have previously been implicated in the emergence of non-native speech sound categories, while no regions could successfully decode the inarticulable nonspeech contrast. Although activation patterns in the left inferior frontal gyrus, the middle temporal gyrus, and the supplementary motor area provided better information for decoding articulable (speech) sounds compared to the inarticulable (sine wave) sounds, the finding that dorsal stream regions do not emerge as good decoders of the articulable contrast alone suggests that other factors, including the strength and structure of the emerging speech categories are more likely drivers of dorsal stream activation for novel sound learning.

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RESUMO Objetivo: Analisar a adequação dos itens propostos para o Instrumento de Avaliação Fonológica (INFONO) quanto ao reconhecimento e à produção da palavra-alvo, bem como analisar a consistência interna dos itens selecionados e comparar entre as variáveis sexo, tipo de escola e desenvolvimento fonológico (típico e atípico). Método: Participaram 48 crianças (n=26 com desenvolvimento fonológico típico e n=22 com desenvolvimento fonológico atípico) categorizadas por: idade (seis faixas etárias de 3 a 8 anos e 11 meses); tipo de escola (pública e privada), e sexo (feminino e masculino). Utilizou-se o INFONO por nomeação espontânea para a coleta dos dados da fala. Analisou-se o percentual de reconhecimento e produção dos itens (n=116), as dificuldades de reconhecimento destes, a consistência interna para o total de itens, e o desempenho das crianças (n=84), considerando as variáveis sexo, tipo de escola e desenvolvimento fonológico. Resultados: A maioria dos itens apresentou um percentual de reconhecimento alto, sendo estes considerados adequados para compor o INFONO. Algumas imagens precisaram ser reelaboradas para facilitar a produção espontânea do alvo e outras foram excluídas do instrumento. O instrumento demonstrou excelente consistência interna dos itens. Não houve diferença estatisticamente significante entre as variáveis sexo e tipo de escola, mas sim quanto ao desenvolvimento fonológico. Conclusão: O INFONO permitiu a correta identificação das imagens e a produção do alvo desejado. Ainda, obteve-se uma quantidade mínima de itens que possibilitam a avaliação de todos os fonemas do Português Brasileiro em diferentes posições na sílaba e na palavra, e esses itens apresentaram excelente consistência interna.

ABSTRACT Purpose: To analyze the recognizability and effectiveness of items in the Phonological Assessment Tool (Instrumento de Avaliação Fonológica - INFONO) at eliciting target words, as well as to evaluate the internal consistency of the instrument and compare performance between genders, school types and typical vs. atypical phonological development. Method: Participants were 48 children (n=26 with typical phonological development and n=22 with atypical development) categorized by age (6 age groups ranging from 3 years and 8 years 11 months), type of school (public vs. private) and gender (male vs. female). Data were collected by the spontaneous naming task of the INFONO. Recognition rates, scores, recognition difficulties and internal consistency were examined in 116 items. Performance in a final set of 84 items was also compared between genders, school types and typical/atypical phonological development. Results: Most target words achieved high recognition rates were considered suitable for use in the INFONO. Some images had to be redesigned to facilitate the spontaneous production of target words, while other items were excluded from the instrument altogether. The instrument demonstrated excellent internal consistency. There were no statistically significant differences between genders and school types, though differences were observed between typically and atypically developing children. Conclusion: The images in the INFONO were successfully recognized by participants and were effective at eliciting the target words. The final set of items contained the minimum number of target words which would allow for an assessment of all phonemes in Brazilian Portuguese in different word and syllable positions, and these items presented excellent internal consistency.

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RESUMO Objetivo: este estudo utilizou a ultrassonografia dos movimentos de língua e modelos dinâmicos de produção de fala para caracterizar os gestos articulatórios na produção do /l/ no Português Brasileiro (PB) em diferentes faixas etárias, comparando-os entre crianças típicas e atípicas. Método: a amostra foi constituída por 30 crianças típicas e 30 atípicas, com idades entre 4 e 8 anos, submetidas a avaliações fonoaudiológica e ultrassonográfica. A avaliação foi realizada mediante gravação da produção de palavras com o som /l/ nos contextos vocálicos de /a/, /i/ e /u/, com seis repetições de cada palavra. O software utilizado foi o Articulate Assistant Advanced (AAA). Para as análises quantitativas foram considerados: os 42 pontos que interceptaram as curvas de língua em cada imagem para descrição dos gestos articulatórios; o cálculo das linhas médias de cada curva e os intervalos de confiança entre os grupos; e o cálculo das diferenças entre as curvas médias dos contornos de língua de acordo com a faixa etária. Resultados: houve elevação de ponta de língua e retração de dorso e raiz na articulação do /l/. As crianças típicas, independentemente da idade, apresentaram maior refinamento dos gestos articulatórios de língua do que as atípicas. Nas crianças mais velhas, houve maior delimitação nos contornos médios de língua desde a ponta até a raiz. Conclusão: a ultrassonografia dos movimentos de língua é uma importante ferramenta para a caracterização dos gestos articulatórios do /l/, para diferenciação entre as produções típica e atípica deste som, e observação do desenvolvimento dos gestos articulatórios.

ABSTRACT Purpose: this study used the ultrasonography of the tongue movements and the dynamic models of speech production to characterize the articulatory gestures of in the production of /l/ at the Brazilian Portuguese in different age groups, comparing them between typical and atypical children. Methods: the sample consisted of 30 typical and 30 atypical children between ages of four and eight-years-old, who underwent speech-language and ultrasonographic evaluations. The evaluation was realized by recording words reproduction with the sound /l/ and the following vocalic contexts: /a/, /i/ and /u/, repeating six times for each word. The software for recording and analysis was Articulate Assistant Advanced (AAA). The quantitative analysis considered the 42 points that intercepted the tongue curves in each image to describe the articulatory gestures; the estimation of the mean lines of each curve and the confidence intervals between typical and atypical children groups; and the differences between the mean tongue contours curves according to age group. Results: the results presented a tongue tip elevation and dorsal and root retraction in /l/. Typical children, regardless of age, showed a greater refinement of articulatory tongue gestures than the atypical ones. In older children, there was more delimitation in the mean tongue contours from the tongue tip to the root. Conclusion: the ultrasonography of the tongue movements is a substantial implement to characterize the articulatory gestures of /l/, to the differentiation between typical and atypical productions in this sound, and observation of the development of the articulatory gestures.

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Mitochondrial disorders are caused by nuclear and mitochondrial pathogenic variants leading to defects in mitochondrial function and cellular respiration. Recently, the nuclear-encoded mitochondrial fusion gene MSTO1 (Misato 1) has been implicated in mitochondrial myopathy and ataxia. Here we report on a 30-yr-old man presenting with a maternally inherited NM_018116.3:c.651C>G, p.F217L missense variant as well as a paternally inherited arr[GRCh37] 1q22(155581773_155706887) × 1 deletion encompassing exons 7-14 of MSTO1 His phenotype included muscle weakness, hypotonia, early motor developmental delay, pectus excavatum, and scoliosis. Testing revealed elevated plasma creatine kinase, and electromyogram results were consistent with longstanding generalized myopathy. These phenotypic features overlap well with previously reported patients harboring biallelic MSTO1 variants. Additionally, our patient presents with dysphagia and restrictive lung disease, not previously reported for MSTO1-associated disorders. The majority of patients with disease-associated variants in MSTO1 present with biallelic variants suggesting autosomal recessive inheritance; however, one family has been reported with a single variant and presumed autosomal dominant inheritance. The pattern of inheritance we observed is consistent with the majority of previous reports suggesting an autosomal recessive disorder. We add to our knowledge of the syndrome caused by variants in MSTO1 and provide additional evidence supporting autosomal recessive inheritance. We also describe phenotypic features not reported in previous cases, although further research is needed to confirm they are associated with defects in MSTO1.

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OBJECTIVE: To evaluate correlations between values of articulation tests and language tests for children with articulation disorder in Korea. METHODS: Data of outpatients with chief complaint of an articulation problem were retrospectively collected. Patients who underwent Urimal Test of Articulation and Phonation (U-TAP) with Assessment of Phonology and Articulation for Children (APAC), Preschool Receptive-Expressive Language Scale (PRES), or Receptive and Expressive Vocabulary Test (REVT) simultaneously were identified. Patients whose word-level percentages of correct consonants in U-TAP (UTAP_wC) were more than 2 standard deviations below the mean as diagnostic criteria for articulation disorder were selected. Those whose receptive language age (P_RLA), expressive language age (P_ELA), or combined language age (P_CLA) in PRES was delayed more than 24 months compared to their chronological age in months as diagnostic criteria for language disorder were excluded. RESULTS: Thirty-three children aged 3-6 years were enrolled retrospectively. PRES and U-TAP showed significant correlations for most of value relationships. PRES and APAC showed significant correlations for all value relationships except for receptive language age. All values of REVT were significantly correlated with all values from U-TAP, but not with any value from APAC. Articulation tests U-TAP and APAC showed significant correlations between percentages of correct consonants. Language tests PRES and REVT showed significant correlations for all value relationships. CONCLUSION: This study suggests that articulation abilities and language abilities might be correlated in children with articulation disorder.