Efficacy of telepractice, an alternative therapy tool during the coronavirus disease 2019 pandemic, for speech disorders related to congenital anomalies.

Since telepractice regulation does not yet exist in Japan, we assessed telepractice efficacy and the level of satisfaction with telepractice versus that with face-to-face practice (FTFP) in speech therapy to establish effective telepractice in Japan. Changes in the number of therapy sessions and therapy levels were compared between telepractice and FTFP sessions conducted during the study period. Additionally, the patients' parents completed a questionnaire survey regarding telepractice. The mean number of sessions was not significantly different between the two types of therapy; the therapy levels, according to stepwise speech therapy, either increased or remained unchanged. The survey showed satisfaction with telepractice among all parents. Telepractice for cleft palate speech was delivered successfully with complete parental satisfaction.

Development of a holistic communication score (HoCoS) in patients treated for oral or oropharyngeal cancer: Preliminary validation.

BACKGROUND: In head and neck cancer, many tools exist to measure speech impairment, but few evaluate the impact on communication abilities. Some self-administered questionnaires are available to assess general activity limitations including communication. Others are not validated in oncology. These different tools result in scores that does not provide an accurate measure of the communication limitations perceived by the patients. AIM: To develop a holistic score measuring the functional impact of speech disorders on communication in patients treated for oral or oropharyngeal cancer, in two steps: its construction and its validation. METHODS & PROCEDURES: Patients treated for oral/oropharyngeal cancer filled six self-questionnaires: two about communicative dynamics (ECVB and DIP), two assessing speech function (PHI and CHI) and two relating to quality of life (EORTC QLQ-C30 and EORTC QLQ-H&N35). A total of 174 items were initially collected. A dimensionality reduction methodology was then applied. Face validity analysis led to eliminate non-relevant items by surveying a panel of nine experts from communication-related disciplines (linguistics, medicine, speech pathology, computer science). Construct validity analysis led to eliminate redundant and insufficiently variable items. Finally, the holistic communication score was elaborated by principal component factor and validated using cross-validation and latent profile analysis. OUTCOMES & RESULTS: A total of 25 patients filled the questionnaires (median age = 67 years, EIQ = 12; 15 men, 10 women; oral cavity = 14, oropharynx = 10, two locations = 1). After face validity analysis, 44 items were retained (κ > 0.80). Four additional items were excluded because of a very high correlation (r > 0.90) with other items presenting a better dispersion. A total of 40 items were finally included in the factor analysis. A post-analysis score prediction was performed (mean = 100; SD = 10). A total of 24 items are finally retained for the construction of the holistic communication score (HoCoS): 19 items from questionnaires assessing communicative dynamics (13 from the ECVB and six from the DIP), four items from a perceived speech impairment questionnaire (PHI) and one from a quality-of-life questionnaire (EORTC QLQ-H&N35). The reliability is good (five-fold cross-validation: rs = 0.91) and the complementary latent profile analysis shows a good validity of the HoCoS, clustering subjects by level of communication performance. CONCLUSIONS & IMPLICATIONS: A global score allowing a measure of the impact of the speech disorder on communication was developed. It fills the lack of this type of score in head and neck oncology and allows the better understanding of the functional and psychosocial consequences of the pathology in the patients' follow-up. WHAT THIS PAPER ADDS: What is already known on the subject Because of their anatomical location, head and neck cancer degrades the speech abilities. Few tools currently allow the assessment of the impact of the speech disorder on communication abilities. In ENT oncology, self-administered questionnaires are available to assess activity limitations and participation restrictions (International Classification of Functioning (ICF)-WHO). Other tools from the field of neurology allow an evaluation of communication dynamics. But these different tools, constructed by items, give global additive or averaged scores. This implies an identical weighting of each item, resulting in global scores that are not very representative of the communication limitations really perceived by the patients. What this paper adds to existing knowledge A new global holistic score allowing a measurement of the impact of speech impairment on communication after treatment of oral or oropharyngeal cancer has been developed. The methodology of its construction allows a better reflection of the symptomatological, pragmatic and psychosocial elements leading to a degradation of communication abilities. What are the potential or actual clinical implications of this work? The developed HoCoS score fills the gap in the absence of this type of tool in head and neck oncology. It may allow a better understanding of the factors involved in the functional and psychosocial limitations of these patients, and better customize their follow-up.

Newborn Auditory Brainstem Responses in Children with Developmental Disabilities.

We integrated data from a newborn hearing screening database and a preschool disability database to examine the relationship between newborn click evoked auditory brainstem responses (ABRs) and developmental disabilities. This sample included children with developmental delay (n = 2992), speech impairment (SI, n = 905), language impairment (n = 566), autism spectrum disorder (ASD, n = 370), and comparison children (n = 128,181). We compared the phase of the ABR waveform, a measure of sound processing latency, across groups. Children with SI and children with ASD had greater newborn ABR phase values than both the comparison group and the developmental delay group. Newborns later diagnosed with SI or ASD have slower neurological responses to auditory stimuli, suggesting sensory differences at birth.

Functional maps of direct electrical stimulation-induced speech arrest and anomia: a multicentre retrospective study.

Direct electrical stimulation, the transient 'lesional' method probing brain function, has been utilized in identifying the language cortex and preserving language function during epilepsy and neuro-oncological surgeries for about a century. However, comparison of functional maps of the language cortex across languages/continents based on cortical stimulation remains unclear. We conducted a retrospective multicentre study including four cohorts of direct electrical stimulation mapping from four centres across three continents, where three indigenous languages (English, French and Mandarin) are spoken. All subjects performed the two most common language tasks: number counting and picture naming during stimulation. All language sites were recorded and normalized to the same brain template. Next, Spearman's correlation analysis was performed to explore the consistency of the distributions of the language cortex across centres, a kernel density estimation to localize the peak coordinates, and a hierarchical cluster analysis was performed to detect the crucial epicenters. A total of 598 subjects with 917 speech arrest sites (complete interruption of ongoing counting) and 423 anomia sites (inability to name or misnaming) were included. Different centres presented highly consistent distribution patterns for speech arrest (Spearman's coefficient r ranged from 0.60 to 0.85, all pair-wise correlations P < 0.05), and similar patterns for anomia (Spearman's coefficient r ranged from 0.37 to 0.80). The combinational speech arrest map was divided into four clusters: cluster 1 mainly located in the ventral precentral gyrus and pars opercularis, which contained the peak of speech arrest in the ventral precentral gyrus; cluster 2 in the ventral and dorsal precentral gyrus; cluster 3 in the supplementary motor area; cluster 4 in the posterior superior temporal gyrus and supramarginal gyrus. The anomia map revealed two clusters: one was in the posterior part of the superior and middle temporal gyri, which peaked at the posterior superior temporal gyrus; and the other within the inferior frontal gyrus, peaked at the pars triangularis. This study constitutes the largest series to date of language maps generated from direct electrical stimulation mapping. The consistency of data provides evidence for common language networks across languages, in the context of both speech and naming circuit. Our results not only clinically offer an atlas for language mapping and protection, but also scientifically provide better insight into the functional organization of language networks.

Living beyond words: post-human reflections on making music with post-verbal people.

Background: This paper draws on a longitudinal ethnographic study of music-making with "post-verbal" people: those with stroke, learning difficulties, acquired brain injury, dementias or autism. Methods: Using embedded observation, arts workshops, interviews with families and carers and focus groups with Music Leaders, the project traced how inclusive music-making happens with "post-verbal" people. It used post-human theory to illuminate and explore processes and benefits. Results: This paper fuses the practical and theoretical aspects of making music with post-verbal people, to understand both how it happens, and, what it signifies. It shows how post-verbal people use music to communicate and demonstrate their capacities, and analyses how those working with them use music to foster a sense of inclusion and belonging. Conclusions: By writing in collaboration across academia and community music practice the paper makes new and important contributions to both post-human thinking and capacities in learning, arts and health.

Comparison between deep brain stimulation and magnetic resonance-guided focused ultrasound in the treatment of essential tremor: a systematic review and pooled analysis of functional outcomes.

The current gold standard surgical treatment for medication-resistant essential tremor (ET) is deep brain stimulation (DBS). However, recent advances in technologies have led to the development of incisionless techniques, such as magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy. The authors perform a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement to compare unilateral MRgFUS thalamotomy to unilateral and bilateral DBS in the treatment of ET in terms of tremor severity and quality of life improvement. PubMed, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials and SCOPUS databases were searched. 45 eligible articles, published between 1990 and 2019, were retrieved. 1202 patients were treated with DBS and 477 were treated with MRgFUS thalamotomy. Postoperative tremor improvement was greater following DBS than MRgFUS thalamotomy (p<0.001). A subgroup analysis was carried out stratifying by treatment laterality: bilateral DBS was significantly superior to both MRgFUS and unilateral DBS (p<0.001), but no significant difference was recorded between MRgFUS and unilateral DBS (p<0.198). Postoperative quality of life improvement was significantly greater following MRgFUS thalamotomy than DBS (p<0.001). Complications were differently distributed among the two groups (p<0.001). Persistent complications were significantly more common in the MRgFUS group (p=0.042). While bilateral DBS proves superior to unilateral MRgFUS thalamotomy in the treatment of ET, a subgroup analysis suggests that treatment laterality is the most significant determinant of tremor improvement, thus highlighting the importance of future investigations on bilateral staged MRgFUS thalamotomy.

Functional Improvements of Speech, Feeding, and Sleep After Lingual Frenectomy Tongue-Tie Release: A Prospective Cohort Study.

Recent studies suggest that speech, solid feeding, and sleep difficulties may be linked to restricted tongue function. Children with tongue restrictions and speech, feeding, and sleep issues underwent lingual frenectomies with a CO2 laser, paired with myofunctional exercises. Questionnaires were completed before, 1 week after, and 1 month following treatment. Thirty-seven patients participated in the study (mean age 4.2 years [range 13 months to 12 years]). Overall, speech improved in 89%, solid feeding improved in 83%, and sleep improved in 83% of patients as reported by parents. Fifty percent (8/16) of speech-delayed children said new words after the procedure (P = .008), 76% (16/21) of slow eaters ate more rapidly (P < .001), and 72% (23/32) of restless sleepers slept less restlessly (P < .001). After tongue-tie releases paired with exercises, most children experience functional improvements in speech, feeding, and sleep. Providers should screen for oral restrictions in children and refer for treatment when functions are impaired.

Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency.

l-arginine:glycine amidinotransferase (AGAT) and its metabolites homoarginine (hArg) and creatine have been linked to stroke pathology in both human and mouse studies. However, a comprehensive understanding of the underlying molecular mechanism is lacking. To investigate transcriptional changes in cerebral AGAT metabolism, we applied a transcriptome analysis in brains of wild-type (WT) mice compared to untreated AGAT-deficient (AGAT-/-) mice and AGAT-/- mice with creatine or hArg supplementation. We identified significantly regulated genes between AGAT-/- and WT mice in two independent cohorts of mice which can be linked to amino acid metabolism (Ivd, Lcmt2), creatine metabolism (Slc6a8), cerebral myelination (Bcas1) and neuronal excitability (Kcnip3). While Ivd and Kcnip3 showed regulation by hArg supplementation, Bcas1 and Slc6a8 were creatine dependent. Additional regulated genes such as Pla2g4e and Exd1 need further evaluation of their influence on cerebral function. Experimental stroke models showed a significant regulation of Bcas1 and Slc6a8. Together, these results reveal that AGAT deficiency, hArg and creatine regulate gene expression in the brain, which may be critical in stroke pathology.

Protocol for Correcting Residual Errors with Spectral, ULtrasound, Traditional Speech therapy Randomized Controlled Trial (C-RESULTS RCT).

BACKGROUND: Speech sound disorder in childhood poses a barrier to academic and social participation, with potentially lifelong consequences for educational and occupational outcomes. While most speech errors resolve by the late school-age years, between 2 and 5% of speakers exhibit residual speech errors (RSE) that persist through adolescence or even adulthood. Previous findings from small-scale studies suggest that interventions incorporating visual biofeedback can outperform traditional motor-based treatment approaches for children with RSE, but this question has not been investigated in a well-powered randomized controlled trial. METHODS/DESIGN: This project, Correcting Residual Errors with Spectral, ULtrasound, Traditional Speech therapy Randomized Controlled Trial (C-RESULTS RCT), aims to treat 110 children in a parallel randomized controlled clinical trial comparing biofeedback and non-biofeedback interventions for RSE affecting the North American English rhotic sound /ɹ/. Eligible children will be American English speakers, aged 9-15 years, who exhibit RSE affecting /ɹ/ but otherwise show typical cognitive-linguistic and hearing abilities. Participants will be randomized, with stratification by site (Syracuse University or Montclair State University) and pre-treatment speech production ability, to receive either a motor-based treatment consistent with current best practices in speech therapy (40% of participants) or treatment incorporating visual biofeedback (60% of participants). Within the biofeedback condition, participants will be assigned in equal numbers to receive biofeedback in the form of a real-time visual display of the acoustic signal of speech or ultrasound imaging of the tongue during speech. The primary outcome measure will assess changes in the acoustics of children's production of /ɹ/ during treatment, while a secondary outcome measure will use blinded listeners to evaluate changes in the perceived accuracy of /ɹ/ production after the completion of all treatment. These measures will allow the treatment conditions to be compared with respect to both efficacy and efficiency. DISCUSSION: By conducting the first well-powered randomized controlled trial comparing treatment with and without biofeedback, this study aims to provide high-quality evidence to guide treatment decisions for children with RSE. TRIAL REGISTRATION: ClinicalTrials.gov identifier NCT03737318, November 9, 2018.

Contribuições da CIF para uma abordagem integral na atenção à Saúde de Crianças e Adolescentes / Contributions of ICF to an integral approach in the Health Care for Children and Adolescents

RESUMO Objetivo: Investigar a participação e funcionalidade de crianças e adolescentes com alterações de fala utilizando a Classificação Internacional de Funcionalidade, Incapacidade e Saúde. Método: Pesquisa descritiva-analítica de abordagem qualitativa-quantitativa com 30 participantes com alteração de fala (CAF) e 30 com desenvolvimento típico de fala (DTF). Para a coleta de dados, realizaram-se entrevistas semiestruturadas com os participantes, estudo de prontuário, observação dos participantes quanto aos aspectos de fala e aplicação de questionário estruturado com os responsáveis. Os dados coletados foram utilizados para seleção de qualificadores das categorias da Classificação Internacional de Funcionalidade, Incapacidade e Saúde. Para comparação dos qualificadores entre grupos, utilizou-se o Teste Mann-Whitney, e a análise de conteúdo temática, para as entrevistas. Resultados: Os participantes do grupo CAF relataram maior grau de dificuldade do que o grupo DTF. As alterações de fala repercutiram significativamente em Funções do Corpo (articulação e fluência), Atividades e Participação (conversa, relacionamentos, realização de rotinas e lidar com estresse) e Fatores Ambientais (atitudes de familiares, amigos e conhecidos). Conclusão: Os resultados evidenciam o impacto das alterações de fala e suas implicações sociais para estas crianças e adolescentes. A CIF permitiu compreender a saúde em complexidade e integralidade, possibilitando assim o planejamento de estratégias para amenizar o impacto dessas alterações individual e coletivamente. Podendo ser base, futuramente, para a criação de políticas públicas e ações que poderão melhorar a qualidade de vida e promover a saúde dessa população.

ABSTRACT Purpose: To investigate participation, and functionality of children and adolescents with speech disorders using the International Classification of Functioning, Disability and Health (ICF). Method: Descriptive and analytical research of qualitative and quantitative approach. The sample was composed of 30 participants with speech disorders and 30 with typical speech development. For data collection, it was conducted semi-structured interviews with the participants, medical record review, observation of speech aspects' participants, and analyzed study of medical records. The collected data were used to qualify the framework codes. The Mann-Whitney Test was used for comparison between groups, and thematic content analysis for the interviews. Results: Participants with speech disorders reported more difficulties than the participants with typical speech development. Speech disorders significantly impacted on the Body Functions (articulation and fluency), Activities and Participation (conversation, relationships, carrying out the routine and handling of stress) and Environmental Factors (attitudes of family, friends and acquaintances). Conclusion: The results show the impact of speech disorders and their social consequences for these children and adolescents. The ICF allowed us to comprehend health in all its complexity and integrality, making possible to plan strategies to soften the disorders impact in an individual and collective perspective. Then, ICF can be used, in the future, for elaboration of public policies and actions that will improve the quality of life and promote the health of this population.

Praxias bucofonatorias con dispositivos bucales y realidad virtual inmersiva: un estudio piloto / Bucco-phonatory training practices with oral devices and immersive virtual reality: a pilot study

El presente trabajo evalúa la efectividad de una intervención utilizando Praxias bucofonatorias con dispositivos bucales en conjunto con realidad virtual inmersiva (RVI), mediante programas diseñados para estimular estados de relajación e interacción en diferentes ambientes virtuales. Para ello, se aplicó la terapia integrada de vibro estimulación bucal palatina, ejercitación lingual y la exposición a imágenes y sonidos empleando RVI en un grupo de 6 niños con el diagnóstico de dislalia. Se comparó los resultados de esta intervención con el de una intervención utilizando únicamente la vibro estimulación bucal palatina en un grupo de 20 niños con diagnóstico de dislalia. Finalmente, se aplicó la terapia integrada de vibro estimulación bucal palatina, ejercitación lingual y RVI en un grupo de niños con autismo. Los resultados observados mostraron que la terapia con dispositivos bucales combinadas con RVI tendía a producir mayores avances que la terapia sin RVI. Además, se observó diferentes grados de avances individuales y grupales en el dominio fonético dependiendo las habilidades de hablainicial, los niños con mejores habilidades presentaban mayores avances. El grupo de niños con autismo presentó menores avances respecto de los otros dos grupos. A pesar de las limitantes del presente estudio (diferente cantidad de sujetos por grupo y distintas edades) puede considerarse esta propuesta como prometedora para futuros estudios.

This study assesses the effectiveness of a therapy using Bucco-phonatory training practices with buccal devices and immersive virtual reality (RVI) through programs designed to stimulate states of relaxation and interaction in different virtual environments. In order to do so, an integrated therapy based on Intra buccal stimulation by means of vibrations in the palatal area, daily lingual exercises with a lingual exerciser device, and exposure to images and sounds using RVI was applied to a group of 6 children diagnosed with dyslalia. The results of this intervention were compared with those obtained in an intervention based only on intra buccal stimulation by means of vibrations in the palatal area (conducted on a a group of 20 children diagnosed with dyslalia). Finally, the integrated therapy of intra buccal stimulation by means of vibrations in the palatal area, lingual exercises, and RVI was applied to a group of children with autism. The results showed that therapy with oral devices combined with RVI tended to produce greater advances than therapy without RVI. In addition, individual differences in group advances in the phonetic domain were observed depending on the initial speech skills, children with better abilities presented greater advances. The group of children with autism progressed less than the other two groups. Even considering the limitations of this study, such as the heterogeneity in terms of group size and age, results can be considered as promising for future studies.

Children with hearing impairment in Malawi, a cohort study.

OBJECTIVE: To assess the outcomes of children diagnosed with hearing impairment 3 years earlier in terms of referral uptake, treatment received and satisfaction with this treatment, and social participation. METHODS: We conducted a population-based longitudinal analysis of children with a hearing impairment in two rural districts of Malawi. Key informants within the community identified the cohort in 2013 (baseline). Informants clinically screened children at baseline, and by questionnaires at baseline and follow-up in 2016. We investigated associations between sociodemographic characteristics and outcomes by multivariate logistic regression. RESULTS: We diagnosed 752 children in 2013 as having a hearing impairment and traced 307 (40.8%) children of these for follow-up in 2016. Referral uptake was low (102/184; 55.4%), more likely among older children (odds ratio, OR: 3.5; 95% confidence interval, CI: 1.2-10.2) and less likely for those with an illiterate caregiver (OR: 0.5; 95% CI: 0.2-0.9). Few of the children who attended hospital received any treatment (33/102; 32.4%) and 63.6% (21/33) of caregivers reported satisfaction with treatment. Difficulty making friends and communicating needs was reported for 10.0% (30/299) and 35.6% (107/301) of the children, respectively. Lack of school enrolment was observed for 29.5% (72/244) of children, and was more likely for older children (OR: 28.6; 95% CI: 10.3-79.6), girls (OR: 2.4; 95% CI: 1.2-4.8) and those with an illiterate caregiver (OR: 2.1; 95% CI: 1.0-4.1). CONCLUSION: More widespread and holistic services are required to improve the outcomes of children with a hearing impairment in Malawi.

Do Patients With Neurogenic Speech Sound Impairments Benefit From Auditory Priming With a Regular Metrical Pattern?

Purpose Earlier investigations based on word and sentence repetition tasks had revealed that the most prevalent metrical pattern in German (the trochee)-unlike the iambic pattern-facilitates articulation in patients with apraxia of speech (AOS; e.g., Aichert, Späth, & Ziegler, 2016), confirming that segmental and prosodic aspects of speech production interact. In this study, we investigated if articulation in apraxic speakers also benefits from auditory priming by speech with a regular rhythm. Furthermore, we asked if the advantage of regular speech rhythm, if present, is confined to impairments at the motor planning stage of speech production (i.e., AOS) or if it also applies to phonological encoding impairments. Method Twelve patients with AOS, 12 aphasic patients with postlexical phonological impairment (PI), and 36 neurologically healthy speakers were examined. A sequential synchronization paradigm based on a sentence completion task was conducted in conditions where we independently varied the metrical regularity of the prime sentence (regular vs. irregular prime sentence) and the metrical regularity of the target word (trochaic vs. iambic). Results Our data confirmed the facilitating effect of regular (trochaic) word stress on speech accuracy in patients with AOS (target effect). This effect could, for the first time, also be demonstrated in individuals with PI. Moreover, the study also revealed an influence of the metrical regularity of speech input in both patient groups (prime effect). Conclusions Patients with AOS and patients with PI exploited rhythmic cues in the speech of a model speaker for the initiation and the segmental realization of words. There seems to be a robust metrical influence on speech at both the phonological and the phonetic planning stages of speech production.

ParkinSong: A Controlled Trial of Singing-Based Therapy for Parkinson's Disease.

Background. Communication impairment is one of the most common symptoms of Parkinson's disease (PD), significantly affecting quality of life. Singing shares many of the neural networks and structural mechanisms used during speech and, thus, has potential for therapeutic application to address speech disorders. Objective. To explore the effects of an interdisciplinary singing-based therapeutic intervention (ParkinSong) on voice and communication in people with PD. Methods. A controlled trial compared the effects of the ParkinSong intervention with an active control condition at 2 dosage levels (weekly vs monthly) over 3 months, on voice, speech, respiratory strength, and voice-related quality-of-life outcomes for 75 people living with PD. The interdisciplinary ParkinSong model comprised high-effort vocal and respiratory tasks, speech exercises, group singing, and social communication opportunities. Results. ParkinSong intervention participants demonstrated significant improvements in vocal intensity (P = .018), maximum expiratory pressure (P = .032), and voice-related quality of life (P = .043) in comparison to controls. Weekly ParkinSong participants increased vocal intensity more than monthly participants (P = .011). Vocal intensity declined in nontreatment control groups. No statistical differences between groups on maximum phonation length or maximum inspiratory pressure were observed at 3 months. Conclusions. ParkinSong is an engaging intervention with the potential to increase loudness and respiratory function in people with mild to moderately severe PD.

Speech difficulties and patient health communication mediating effects on worry and health-related quality of life in children, adolescents, and young adults with Neurofibromatosis Type 1.

The objective was to investigate the serial mediating effects of speech difficulties, patient health communication, and disease-specific worry in the relationship between neurofibromatosis (NF) symptoms (pain and skin symptoms) and total generic health-related quality of life (HRQOL) in children, adolescents, and young adults with NF Type 1 (NF1) from the patient perspective. The Speech, Communication, Worry, Pain, Skin Itch Bother, and Skin Sensations Scales from the Pediatric Quality of Life Inventory (PedsQL) NF1 Module and the PedsQL 4.0 Generic Core Scales were completed in a multi-site national study by 305 patients ages 5-25 years. A serial multiple mediator model analysis was conducted to test the hypothesized sequential mediating effects of speech difficulties, health communication, and worry as intervening variables in the association between NF1 symptoms and HRQOL. Symptoms predictive effects on total generic HRQOL were serially mediated by speech difficulties, patient health communication, and worry. In predictive analytics models utilizing hierarchical multiple regression analyses with age and gender demographic covariates, the pain, skin itch bother, and skin sensations multiple mediator models accounted for 61%, 59%, and 56% of the variance in generic HRQOL (p < .001), reflecting large effect sizes. Speech difficulties, patient health communication, and disease-specific worry explain in part the mechanism of symptoms predictive effects on total generic HRQOL in pediatric patients with NF1. Identifying NF1-specific predictors and serial mediators of total generic HRQOL in pediatric patients with NF1 from the patient perspective enables a patient-centered comprehensive care approach for children, adolescents, and young adults with NF1.

Introducing the Beatalk technique: using beatbox sounds and rhythms to improve speech characteristics of adults with intellectual disability.

BACKGROUND: Individuals with intellectual disability (ID) often demonstrate speech impairments and reduced intelligibility. However, traditional treatment methods, which involve using repetitive verbal and non-verbal exercises, may not be fully suitable for this population. As adults with ID tend to lose interest and motivation facing the demands of a typical speech therapy session, other intervention methods are needed. The current study tested a novel intervention technique, Beatalk, based on practising vocally produced sounds and rhythms, imitating the sounds produced by rhythm machines in an a cappella musical context (i.e., human beatboxing). Human beatboxing may be a particularly effective tool since it involves intense production of speech sounds (phonemes) that can be misarticulated in the presence of speech disorders; it is relatively easy to learn and practice, and is also considered 'fun'. AIMS: As many of the features of beatboxing make it a promising method for speech therapy, this pioneering study aimed to examine its effectiveness in comparison with a traditional speech therapy. METHODS & PROCEDURES: Twelve adults with moderate ID and low speech intelligibility (age 24-48 years) participated in a speech therapy group for 6 weeks. Six participants were assigned to the Beatalk (study) group and six to a traditional (control) therapy group. Pre- to post-treatment changes in speech intelligibility and voice measures were assessed. OUTCOMES & RESULTS: The preliminary data demonstrate that both types of therapy groups resulted in improved performance in articulation accuracy and voice measures, yet the Beatalk technique yielded larger gains. CONCLUSIONS & IMPLICATIONS: The results present initial evidence for the beneficial effect of the Beatalk technique as an intervention tool for adults with ID. It is an easy-to-use technique in the context of speech therapy, and may enhance verbal communication skills in this population.

Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency.

Arginine-glycine amidinotransferase (AGAT) deficiency is a rare inherited metabolic disorder that severely affects brain bioenergetics. Characterized by mental retardation, language impairment, and behavioral disorders, AGAT deficiency is a treatable condition, where long-term creatine supplementation usually restores brain creatine levels and improves its clinical features. In some cases of AGAT deficiency, creatine treatment might be somewhat limited due to possible shortcomings in performance and transport of creatine to the brain. Guanidinoacetic acid (GAA), a direct metabolic precursor of creatine, has recently been suggested as a possible alternative to creatine to tackle brain creatine levels in experimental medicine. AGAT patients might benefit from oral GAA due to upgraded bioavailability and convenient utilization of the compound, while possible drawbacks (e.g. brain methylation issues, neurotoxicity, and hyperhomocysteinemia) should be accounted as well.

Use of electropalatography in the treatment of speech disorders in children with Down syndrome: a randomized controlled trial.

BACKGROUND: Electropalatography (EPG) records details of the location and timing of tongue contacts with the hard palate during speech. It has been effective in treating articulation disorders that have failed to respond to conventional therapy approaches but, until now, its use with children and adolescents with intellectual/learning disabilities and speech disorders has been limited. AIMS: To evaluate the usefulness of EPG in the treatment of speech production difficulties in children and adolescents with Down syndrome (DS) aged 8-18 years. METHODS & PROCEDURES: A total of 27 children with DS were assessed on a range of cognitive and speech and language measures and underwent additional EPG assessment. Participants were randomly allocated to one of three age-matched groups receiving either EPG therapy, EPG-informed conventional therapy or 'treatment as usual' over a 12-week period. The speech of all children was assessed before therapy using the Diagnostic Evaluation of Articulation and Phonology (DEAP) and reassessed immediately post- and 3 and 6 months post-intervention to measure percentage consonants correct (PCC). EPG recordings were made of the DEAP assessment items at all time points. Per cent intelligibility was also calculated using the Children's Speech Intelligibility Measure (CSIM). OUTCOMES & RESULTS: Gains in accuracy of production immediately post-therapy, as measured by PCC, were seen for all groups. Reassessment at 3 and 6 months post-therapy revealed that those who had received therapy based directly on EPG visual feedback were more likely to maintain and improve on these gains compared with the other groups. Statistical testing showed significant differences between groups in DEAP scores across time points, although the majority did not survive post-hoc evaluation. Intelligibility across time points, as measured by CSIM, was also highly variable within and between the three groups, but despite significant correlations between DEAP and CSIM at all time points, no statistically significant group differences emerged. CONCLUSIONS & IMPLICATIONS: EPG was an effective intervention tool for improving speech production in many participants. This may be because it capitalizes on the relative strength of visual over auditory processing in this client group. The findings would seem to warrant an increased focus on addressing speech production difficulties in current therapy.