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.

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.

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.

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.

The Impact of Expiratory Muscle Strength Training on Speech Breathing in Individuals With Parkinson's Disease: A Preliminary Study.

PURPOSE: The purpose of this study was to examine the impact of expiratory muscle strength training on speech breathing and functional speech outcomes in individuals with Parkinson's disease (PD). METHOD: Twelve individuals with PD were seen once a week for 8 weeks: 4 pretraining (baseline) sessions followed by a 4-week training period. Posttraining data were collected at the end of the 4th week of training. Maximum expiratory pressure, an indicator of expiratory muscle strength, and lung volume at speech initiation were the primary outcome measures. Secondary outcomes included lung volume at speech termination, lung volume excursion, utterance length, and vocal intensity. Data were collected during a spontaneous speech sample. Individual effect sizes > 1 were considered significant. RESULTS: Maximum expiratory pressure increased in a majority of participants after training. Training resulted in 2 main respiratory patterns: increasing or decreasing lung volume initiation. Lung volume termination and excursion, utterance length, and vocal loudness were not consistently altered by training. CONCLUSIONS: Preliminary evidence suggests that the direct physiologic intervention of the respiratory system via expiratory muscle strength training improves speech breathing in individuals with PD, with participants using more typical lung volumes for speech following treatment.

Acquired Apraxia of Speech: The Relationship Between Awareness of Errors in Word Productions and Treatment Outcomes.

PURPOSE: Awareness of errors has been considered a clinical feature of acquired apraxia of speech (AOS). However, there is limited research examining error awareness in speakers with AOS. The purpose of this investigation was to examine awareness of errors and explore the relationship between awareness of errors and treatment outcomes in speakers with AOS. METHOD: Twenty speakers with AOS and aphasia produced mono- and multisyllabic words in a repetition task. Following each production, speakers were asked to judge the accuracy of their production (i.e., correct or incorrect). Then, speakers received Sound Production Treatment. RESULTS: Judgment accuracy of productions for the group ranged from 20% to 96%. There was a weak relationship between judgment accuracy and probe performance at posttreatment (r = .47) and a moderate relationship between judgment accuracy and probe performance at follow-up (r = .53). CONCLUSION: Findings indicate that speakers with AOS varied in their ability to judge the accuracy of their productions. For some speakers, the ability to judge the accuracy of their productions did not coincide with their production accuracy of treatment stimuli at posttreatment and at follow-up. Further research is needed to explore the relationship between error awareness and treatment outcomes.

[Clinical study of post-stroke speech apraxia treated with scalp electric acupuncture under anatomic orientation and rehabilitation training].

OBJECTIVE: To compare the differences in the clinical efficacy on post-stroke speech disorder between scalp electric acupuncture (EA) under anatomic orientation combined with rehabilitation training and simple rehabilitation training. METHODS: Sixty patients of post-stroke speech apraxia were randomized into an observation group and a control group, 30 cases in each one. In the observation group, under anatomic orientation, the scalp EA was adopted to the dominant hemisphere Broca area on the left cerebrum. Additionally, the speech rehabilitation training was combined. In the control group, the speech rehabilitation training was simply,used. The treatment lasted for 4 weeks totally. The speech movement program module in the psychological language assessment and treatment system of Chinese aphasia was used for the evident of efficacy assessment. The scores of counting, singing scale, repeating phonetic alphabet, repeating monosyllable and repeating disyllable were observed in the patients of the two groups. The assessment was done separately on the day of grouping and 4 weeks after treatment. RESULTS: In 4 weeks of treatment, the scores of counting, singing scale, repeating phonetic alphabet, repeating monosyllable and repeating disyllable were all improved as compared with those before treatment in the two groups (all P<0. 001). The results in the observation group were better than those in the control group (all P< 0. 05). The total effective rate was 100. 0% (30/30) in the observation group, superior apparently to 53. 3% (16/30) in the control group (P<0. 001). CONCLUSION: The scalp EA under anatomic orientation combined with' speech rehabilitation training obviously improves speech apraxia in stroke patients so that the speech disorder cani be relieved. The efficacy is better than that in simple rehabilitation training.

The effects of physiological adjustments on the perceptual and acoustical characteristics of simulated laryngeal vocal tremor.

The purpose of this study was to determine if adjustments to the voice source [i.e., fundamental frequency (F0), degree of vocal fold adduction] or vocal tract filter (i.e., vocal tract shape for vowels) reduce the perception of simulated laryngeal vocal tremor and to determine if listener perception could be explained by characteristics of the acoustical modulations. This research was carried out using a computational model of speech production that allowed for precise control and manipulation of the glottal and vocal tract configurations. Forty-two healthy adults participated in a perceptual study involving pair-comparisons of the magnitude of "shakiness" with simulated samples of laryngeal vocal tremor. Results revealed that listeners perceived a higher magnitude of voice modulation when simulated samples had a higher mean F0, greater degree of vocal fold adduction, and vocal tract shape for /i/ vs /ɑ/. However, the effect of F0 was significant only when glottal noise was not present in the acoustic signal. Acoustical analyses were performed with the simulated samples to determine the features that affected listeners' judgments. Based on regression analyses, listeners' judgments were predicted to some extent by modulation information present in both low and high frequency bands.

An independent SSVEP-based brain-computer interface in locked-in syndrome.

OBJECTIVE: Steady-state visually evoked potential (SSVEP)-based brain-computer interfaces (BCIs) allow healthy subjects to communicate. However, their dependence on gaze control prevents their use with severely disabled patients. Gaze-independent SSVEP-BCIs have been designed but have shown a drop in accuracy and have not been tested in brain-injured patients. In the present paper, we propose a novel independent SSVEP-BCI based on covert attention with an improved classification rate. We study the influence of feature extraction algorithms and the number of harmonics. Finally, we test online communication on healthy volunteers and patients with locked-in syndrome (LIS). APPROACH: Twenty-four healthy subjects and six LIS patients participated in this study. An independent covert two-class SSVEP paradigm was used with a newly developed portable light emitting diode-based 'interlaced squares' stimulation pattern. MAIN RESULTS: Mean offline and online accuracies on healthy subjects were respectively 85 ± 2% and 74 ± 13%, with eight out of twelve subjects succeeding to communicate efficiently with 80 ± 9% accuracy. Two out of six LIS patients reached an offline accuracy above the chance level, illustrating a response to a command. One out of four LIS patients could communicate online. SIGNIFICANCE: We have demonstrated the feasibility of online communication with a covert SSVEP paradigm that is truly independent of all neuromuscular functions. The potential clinical use of the presented BCI system as a diagnostic (i.e., detecting command-following) and communication tool for severely brain-injured patients will need to be further explored.

Limited plastic potential of the left ventral premotor cortex in speech articulation: evidence from intraoperative awake mapping in glioma patients.

OBJECTIVES: Despite previous lesional and functional neuroimaging studies, the actual role of the left ventral premotor cortex (vPMC), i.e., the lateral part of the precentral gyrus, is still poorly known. EXPERIMENTAL DESIGN: We report a series of eight patients with a glioma involving the left vPMC, who underwent awake surgery with intraoperative cortical and subcortical language mapping. The function of the vPMC, its subcortical connections, and its reorganization potential are investigated in the light of surgical findings and language outcome after resection. PRINCIPAL OBSERVATIONS: Electrostimulation of both the vPMC and subcortical white matter tract underneath the vPMC, that is, the anterior segment of the lateral part of the superior longitudinal fascicle (SLF), induced speech production disturbances with anarthria in all cases. Moreover, although some degrees of redistribution of the vPMC have been found in four patients, allowing its partial resection with no permanent speech disorders, this area was nonetheless still detected more medially in the precentral gyrus in the eight patients, despite its invasion by the glioma. Moreover, a direct connection of the vPMC with the SLF was preserved in all cases. CONCLUSIONS: Our original data suggest that the vPMC plays a crucial role in the speech production network and that its plastic potential is limited. We propose that this limitation is due to an anatomical constraint, namely the necessity for the left vPMC to remain connected to the lateral SLF. Beyond fundamental implications, such knowledge may have clinical applications, especially in surgery for tumors involving this cortico-subcortical circuit.

The role of left inferior fronto-occipital fascicle in verbal perseveration: a brain electrostimulation mapping study.

The subcortical connectivity underlying verbal perseveration (VP) remains poorly understood. We have previously reported that intraoperative electrical stimulation of the caudate nucleus during awake surgery resulted in VP. Here, our purpose is to study the white matter pathway underlying VP using subcortical stimulation mapping in a series of patients who underwent glioma resection. Eleven patients with a left hemispheric low grade glioma were operated on while awake. Intraoperative direct electrical stimulation was used both at cortical and subcortical levels while the patients carried out motor and naming tasks during the resection. All patients experienced VP during electrical stimulation performed at the level of different subcortical locations, which corresponded in the 11 cases to different parts of the left inferior fronto-occipital fascicle. Perseveration persisted into the postoperative days, but resolved completely by three months.Our original findings provide further insight into the neuroanatomical basis of VP, by supporting the role of left inferior fronto-occipital fascicle. Such data may have both fundamental and clinical implications.

Neural correlates of the relationship between discourse coherence and sensory monitoring in schizophrenia.

Unusual language use is a core feature of psychosis, but the nature and significance of this are not understood. In particular, thought disorder in schizophrenia (SZ) is characterized by markedly bizarre speech, but the cognitive components that contribute to this and the brain correlates of these components are unknown. A number of studies have demonstrated language abnormalities in single word processing, but few have examined speech in SZ at the discourse level. This has been at least partly due to the difficulty in quantifying content of discourse. Recently, methods in computational linguistics have been found to be useful for detecting differences in semantic coherence during discourse between different clinical groups. We build on this work by demonstrating how these methods can be combined with funtional magnetic resonance imaging (fMRI) in order to tease apart factors that underlie free discourse and its deviations, and how they relate to brain activity. Eleven volunteers with SZ and eleven controls participated in an interview during which they were asked to talk as much as they could about 'religious belief'. These same participants underwent fMRI during a word monitoring task, during which modality of monitoring was manipulated by varying the congruence of auditory and visual stimuli. Semantic coherence scores, measured from free discourse, were examined for their relationship to brain activations during fMRI. In healthy controls, regions associated with executive function were related to coherence. In persons with SZ, coherence was mainly related to auditory and visual regions, depending on the modality of monitoring, but superior/middle temporal cortex related to coherence regardless of task. These findings are consistent with existing evidence for a role of superior temporal cortex in thought disorder, and demonstrate that computational measures of semantic content capture objective measures of coherence in speech that can be usefully related to underlying neurophysiological processes.

Determinants of school activity performance in children with cerebral palsy: a multidimensional approach using the ICF-CY as a framework.

This study aimed to identify the determinants of activity performance in children with cerebral palsy (CP) in school by considering factors from the entire scope of the International Classification of Functioning, Disability, and Health for Child and Youth (ICF-CY). A sample of 167 school-aged children with CP and their caregivers were recruited in the study. Activity performance in school settings was assessed with part 3 of the School Functional Assessment - Chinese version, which divides activity performance into performance of physical activities and cognitive/behavioral activities. Possible determinants were collected according to all dimensions of the ICF-CY. Multiple regression analyses showed that the determinants of performance of physical activities were receiving speech therapy in school, diplegia, having a domestic helper, and severity of gross and fine motor impairments, explaining 83% of the total variance; the determinants of performance of cognitive/behavioral activities were intellectual impairment, prosocial behavior, having an assistant in school, educational placement, severity of fine motor impairment, accounting for 73% of the total variance. Results of the study provide clinicians a holistic understanding of factors influencing school activity performance, and enable clinicians to make appropriate evaluations and interventions targeted at the determinants to enhance children's activity performance in school.

Ultrasound biofeedback treatment for persisting childhood apraxia of speech.

PURPOSE: The purpose of this study was to evaluate the efficacy of a treatment program that includes ultrasound biofeedback for children with persisting speech sound errors associated with childhood apraxia of speech (CAS). METHOD: Six children ages 9-15 years participated in a multiple baseline experiment for 18 treatment sessions during which treatment focused on producing sequences involving lingual sounds. Children were cued to modify their tongue movements using visual feedback from real-time ultrasound images. Probe data were collected before, during, and after treatment to assess word-level accuracy for treated and untreated sound sequences. As participants reached preestablished performance criteria, new sequences were introduced into treatment. RESULTS: All participants met the performance criterion (80% accuracy for 2 consecutive sessions) on at least 2 treated sound sequences. Across the 6 participants, performance criterion was met for 23 of 31 treated sequences in an average of 5 sessions. Some participants showed no improvement in untreated sequences, whereas others showed generalization to untreated sequences that were phonetically similar to the treated sequences. Most gains were maintained 2 months after the end of treatment. The percentage of phonemes correct increased significantly from pretreatment to the 2-month follow-up. CONCLUSION: A treatment program including ultrasound biofeedback is a viable option for improving speech sound accuracy in children with persisting speech sound errors associated with CAS.

Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.

We report two sisters, aged 11 and 6years, with AGAT deficiency syndrome (OMIM 612718) which is the least common creatine deficiency syndrome. They were born full-term to consanguineous parents and had moderate developmental delay. Examination showed an important language delay, a progressive proximal muscular weakness in the lower limbs with Gowers sign and myopathic electromyography. Investigations revealed undetectable guanidinoacetate and low level of creatine in plasma and urine, characteristic findings of AGAT deficiency syndrome. Brain magnetic resonance spectroscopy showed a markedly reduced level of creatine. Guanidinoacetate methyltransferase (GATM) gene sequencing revealed a homozygous missense mutation in exon 4:c.608A>C, (p.Tyr203Ser). Thirteen months after beginning the treatment with oral creatine monohydrate 200mg/kg/day, then 400mg/kg/day, there was a dramatic improvement in muscle strength with Gowers sign disappearance in both patients, and a mild improvement in language and cognitive functions. AGAT deficiency syndrome should be considered in all patients with language retardation and cognitive impairment associated to a myopathy of unknown etiology such that early diagnosis must lead to creatine supplementation to cure the myopathy and improve language and cognitive function.

Speech motor programming in apraxia of speech: evidence from a delayed picture-word interference task.

PURPOSE: Apraxia of speech (AOS) is considered a speech motor programming impairment, but the specific nature of the impairment remains a matter of debate. This study investigated 2 hypotheses about the underlying impairment in AOS framed within the Directions Into Velocities of Articulators (DIVA; Guenther, Ghosh, & Tourville, 2006) model: The retrieval hypothesis states that access to the motor programs is impaired, and the damaged programs hypothesis states that the motor programs themselves are damaged. METHOD: The experiment used a delayed picture-word interference paradigm in which participants prepare their response and auditory distracters are presented with the go signal. The overlap between target and distracter words was manipulated (i.e., shared sounds or no shared sounds), and participants' reaction times (RTs) were measured. Participants included 5 speakers with AOS (4 with concomitant aphasia), 2 speakers with aphasia without AOS, and 9 age-matched control speakers. RESULTS: The control speakers showed no effects of distracter type or presence. The speakers with AOS had longer RTs in the distracter condition compared to the no-distracter condition. The speakers with aphasia without AOS were comparable to the control group in their overall RTs and RT pattern. CONCLUSION: Results provide preliminary support for the retrieval hypothesis, suggesting that access to motor programs may be impaired in speakers with AOS. However, the possibility that the motor programs may also be damaged cannot be ruled out.

Mismatch negativity responses in children with a diagnosis of childhood apraxia of speech (CAS).

PURPOSE: To evaluate whether a hypothesis suggesting that apraxia of speech results from phonological overspecification could be relevant for childhood apraxia of speech (CAS). METHOD: High-density EEG was recorded from 5 children with CAS and 5 matched controls, ages 5-8 years, with and without CAS, as they listened to randomized sequences of CV syllables in two oddball paradigms: phonemic (/ba/, /pa/) and allophonic (/pa/, /p(h)a/). RESULTS: In the phonemic contrast condition, mismatch negativity (MMN) responses to oddball sounds were observed for the typically developing (comparison) group but not the CAS group, although a component similar to an immature mismatch response was apparent. The allophonic contrast did not elicit MMN responses in the comparison group, but in the CAS group, an MMN-like response was observed. CONCLUSION: The authors propose that these preliminary findings are consistent with a view of CAS as a disorder that not only affects motor planning but also has a phonological component.

Training production of lexical stress in typically developing children using orthographically biased stimuli and principles of motor learning.

PURPOSE: Impaired lexical stress production characterizes multiple pediatric speech disorders. Effective remediation strategies are not available, and little is known about the normal process of learning to assign and produce lexical stress. This study examined whether typically developing (TD) children can be trained to produce lexical stress on bisyllabic pseudowords that are orthographically biased to a strong-weak or weak-strong pattern (e.g., MAMbey or beDOON), in combination with the principles of motor learning (PML). METHOD: Fourteen TD children ages 5;0 (years;months) to 13;0 were randomly assigned to a training or control group using concealed allocation within blocks. A pre- to posttraining group design was used to examine the acquisition, retention, and generalization of lexical stress production. RESULTS: The training group learned to produce appropriate lexical stress for the pseudowords with strong maintenance and generalization to related untrained stimuli. Accuracy of stress production did not change in the control group. CONCLUSION: TD children can learn to produce lexical stress patterns for orthographically biased pseudowords via explicit training methods. Findings have relevance for the study of languages other than English and for a range of prosodic disorders.