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Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi ; 35(4): 371-374;379, 2021 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-33794641


Children with microtia are often associated with maxillofacial dysostosis, such as Treacher Collins syndrome, Goldenhar syndrome, and Nager syndrome, and they are prone to suffer from obstructive sleep apnea(OSA). Obstruction widely occurred in the upper airway is the main mechanism of OSA in these children, and dysplasia of the pharynx and neurodevelopmental abnormalities may also participate. Early diagnosis requires symptom screening and polysomnography. Imaging techniques and endoscopy can be adopted to fully assess the upper airway status to guide further treatment. According to the child's condition and the main obstruction site, treatment methods include maxillofacial deformity correction, continuous positive pressure ventilation and tracheotomy. OSA in microtia children with maxillofacial dysostosis needs to be identified and treated in time to reduce the adverse effects on the growth and development of children.

Microtia Congênita , Disostose Craniofacial , Anormalidades Maxilofaciais , Apneia Obstrutiva do Sono , Criança , Anormalidades do Olho , Humanos , Distúrbios da Fala
Brain Nerve ; 73(3): 257-263, 2021 Mar.
Artigo em Japonês | MEDLINE | ID: mdl-33678617


Foreign accent syndrome (FAS) is a rare speech disorder characterized by the emergence of a foreign accent. To date, more than a hundred cases of FAS have been reported, and the impression of accent change is regarded to be the result of a combination of segmental deficits (i.e., phonetic distortions and phonemic paraphasias) and supra-segmental changes (i.e., stress, pitch, or rhythm variation). The most common etiology of FAS is stroke, followed by other causes. Various lesion locations have been identified to cause FAS. Owing to various heterogeneous etiologies and lesion locations, it remains controversial whether there is enough consistency or universality to treat FAS as a "syndrome".

Afasia , Acidente Vascular Cerebral , Humanos , Fonética , Distúrbios da Fala , Síndrome
Codas ; 33(1): e20190214, 2021.
Artigo em Português, Inglês | MEDLINE | ID: mdl-33533830


PURPOSE: To evaluate speech intelligibility and dysarthria, correlated to the functional assessment of Amyotrophic Lateral Sclerosis (ALS). METHODS: Quantitative-descriptive study approved by REC under No. CAAE 62912416.4.0000.5404, comprised of 19 individuals with sporadic or familiar ALS. Data were collected using the Dysarthria Protocol and the Revised Amyotrophic Lateral Sclerosis Functional Rating Scale (ALSFRS-Re). We used visual analogue scale (VAS) to assess speech intelligibility and summary measures; and Spearman's coefficients of correlation for the instruments with significance level of 5%. RESULTS: Speech intelligibility is compromised (41.37±39.73) in varied degrees with positive correlation with the general degree of dysarthria (p=<.0001), and with all the analyzed speech parameters, indicating impact on the speech deterioration of the studied group. There is negative correlation between speech intelligibility and the results of the bulbar sections - speech and deglutition (p=0.0166), arm - activities with the upper limb (p=0.0064) and leg - activities with the lower limb (p=0.0391). Breathing (p=0.0178), phonation (p=0.0334) and resonance (p=0.0053) parameters showed a negative correlation with the item "speech" of the ALSFRS-Re. CONCLUSION: Results show impaired speech intelligibility and dysarthria, and evidence breathing, phonation and resonance as important markers of the disease progression. A thorough and early evaluation of the oral motor production allows for a better management of alterations in ALS.

Esclerose Amiotrófica Lateral , Inteligibilidade da Fala , Esclerose Amiotrófica Lateral/complicações , Disartria/diagnóstico , Disartria/etiologia , Humanos , Fala , Distúrbios da Fala , Medida da Produção da Fala
Av. enferm ; 39(1): 84-92, 01 de enero de 2021.
Artigo em Espanhol | LILACS, BDENF - Enfermagem, COLNAL | ID: biblio-1151186


Objetivo: analizar la asociación entre la velocidad de la marcha y la cognición de adultos mayores que se encuentran en asistencia ambulatoria geriátrica y gerontológica. Materiales y método: estudio cuantitativo transversal realizado con 407 adultos mayores (≥ 60 años) atendidos en el Centro Ambulatorio de Geriatría y Gerontología del municipio de São José dos Pinhais, Paraná (Brasil). La condición de fragilidad física se evaluó utilizando el fenotipo de fragilidad y el cribado cognitivo mediante el Mini-Mental State Examination y el test de fluencia verbal semántica. El análisis univariado se realizó mediante una prueba de chi-cuadrado con nivel de significación estadístico de p ≤ 0,05. Resultados: del total de participantes, se observaron 226 (55,5 %) adultos mayores prefrágiles, 238 (58,5 %) reportaron deterioro cogntivo, 90 (22 %) de la fluidez verbal semántica y 205 (50,4 %) presentaron velocidad de la marcha reducida, variable que registró una asociación significativa con el deterioro cognitivo (p = 0,003) y las alteraciones de la fluencia verbal semántica (p < 0,001).Conclusiones: los resultados señalan la necesidad de implementar la evaluación de la velocidad de la marcha en adultos mayores como parte de la práctica clínica de geriatría y gerontología. Este componente revela un posible deterioro cognitivo y permite la realización de acciones que puedan perfeccionar el manejo de los cuidados ante la fragilidad física en adultos mayores.

Objetivo: analisar a associação entre a velocidade da marcha e a cognição de idosos em assistência ambulatorial de geriatria e gerontologia. Materiais e método: estudo quantitativo transversal, realizado com 407 idosos (≥ 60 anos), atendidos no Ambulatório de Geriatria e Geron-tologia, do município de São José dos Pinhais, Paraná, Brasil. A condição de fragilidade física foi avaliada mediante o fenótipo de fragilidade e o rastreio cognitivo pelo Mini-Exame do Estado Mental e Teste de Fluência Verbal Semântica. A análise univariada foi realizada por teste de quiquadrado com nível de significância estatístico de p ≤ 0,05. Resultados:do total de participantes, foram observados 226 (55,5 %) idosos pré-frágeis, 238 (58,5 %) apresentaram declínio cognitivo, 90 (22 %) comprometimento na fluência verbal semântica e 205 (50,4 %) velocidade da marcha reduzida, variável que registrou associação significativa com o comprometimento cognitivo (p = 0,003) e alterações da fluência verbal semântica (p < 0,001). Conclusões: os resultados apontam para a necessidade de implementar na prática clínica de geriatria e gerontologia a avaliação da velocidade da marcha em idosos. Esse componente revela possibilidades de comprometimento cognitivo e faculta ações que possam aprimorar a gestão de cuidados diante da fragilidade física em idosos

Objective: To study the association between gait speed and cognition in elderly patients undergoing geriatric and gerontological outpatient treatment. Materials and method:Quantitative and cross-sectional study with 407 elderly patients (≥60 years) treated at the Geriatrics and Gerontology Outpatient Clinic in the town of São José dos Pinhais, Paraná (Brazil). Physical frailty condi-tion was assessed using the frailty phenotype and the cognitive assessment by means of the Mini Mental State Examination and the Semantic Verbal Fluency Test. The univariate analysis was performed using a chisquare test with a level of statistical significance of p ≤ 0.05. Results: Out of the total participants, we observed that 226 (55.5%) elderly patients were pre-frail, 238 (58.5%) had cognitive impairments, 90 (22%) showed impaired semantic verbal fluency, and 205 (50.4%) decreased gait speed. This last variable showed a significant association with cognitive decline (p = 0.003) and changes in semantic verbal fluency (p < 0.001). Conclusions: Our results indicate the need of implementing gait speed assessment in elderly patients in the geriatrics and gerontology clinical practice. This component reveals a possible cognitive deterioration and enables us to develop actions that may improve care management in the face of physical frailty in elderly individuals.

Humanos , Idoso , Idoso de 80 Anos ou mais , Idoso , Idoso Fragilizado , Disfunção Cognitiva , Marcha , Distúrbios da Fala
Am J Speech Lang Pathol ; 30(1): 63-74, 2021 01 27.
Artigo em Inglês | MEDLINE | ID: mdl-33332145


Purpose Evaluation and management of voice and upper airway disorders in adults and children, by speech-language pathologists worldwide, have been significantly altered by the COVID-19 pandemic. Secondary to the pathogenic nature of the virus in the respiratory tract and upper airway, it is essential that speech-language pathologists who specialize in these disorders are knowledgeable of current practices to provide evidence-based care while minimizing viral transmission. Understanding how and when SARS-CoV-2 spreads is critical to the development of effective infection prevention within clinical practices. Method We established an evidence-based clinical practice guide for clinicians working with voice and upper airway through a comprehensive evaluation of peer-reviewed journals, non-peer-reviewed manuscripts on preprint servers, national health guidelines, and published and online consensus statements and emerging data. Emphasis was placed on risk mitigation for viral transmission via safe clinical practices, including evaluative procedures, therapy including telehealth, personal protective equipment, room, staffing, and distancing considerations. Results/Conclusions While knowledge relevant to viral transmission of SARS-CoV-2 is rapidly evolving, there is a paucity of literature specific to the evaluation and treatment of voice and upper airway disorders. Within these confines and given the potentially significant high risk of infection secondary to the nature of COVID-19, we summarize current considerations and recommend best practices that maximize risk mitigation whereby ensuring patient and provider safety.

Obstrução das Vias Respiratórias/diagnóstico , Distúrbios da Fala/diagnóstico , Distúrbios da Voz/diagnóstico , Adulto , Obstrução das Vias Respiratórias/terapia , Criança , Humanos , Guias de Prática Clínica como Assunto , Fatores de Risco , Distúrbios da Fala/terapia , Distúrbios da Voz/terapia
Am J Physiol Heart Circ Physiol ; 320(2): H613-H629, 2021 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-33337958


Creatine kinase (CK) is considered the main phosphotransfer system in the heart, important for overcoming diffusion restrictions and regulating mitochondrial respiration. It is substrate limited in creatine-deficient mice lacking l-arginine:glycine amidinotransferase (AGAT) or guanidinoacetate N-methyltranferase (GAMT). Our aim was to determine the expression, activity, and mitochondrial coupling of hexokinase (HK) and adenylate kinase (AK), as these represent alternative energy transfer systems. In permeabilized cardiomyocytes, we assessed how much endogenous ADP generated by HK, AK, or CK stimulated mitochondrial respiration and how much was channeled to mitochondria. In whole heart homogenates, and cytosolic and mitochondrial fractions, we measured the activities of AK, CK, and HK. Lastly, we assessed the expression of the major HK, AK, and CK isoforms. Overall, respiration stimulated by HK, AK, and CK was ∼25, 90, and 80%, respectively, of the maximal respiration rate, and ∼20, 0, and 25%, respectively, was channeled to the mitochondria. The activity, distribution, and expression of HK, AK, and CK did not change in GAMT knockout (KO) mice. In AGAT KO mice, we found no changes in AK, but we found a higher HK activity in the mitochondrial fraction, greater expression of HK I, but a lower stimulation of respiration by HK. Our findings suggest that mouse hearts depend less on phosphotransfer systems to facilitate ADP flux across the mitochondrial membrane. In AGAT KO mice, which are a model of pure creatine deficiency, the changes in HK may reflect changes in metabolism as well as influence mitochondrial regulation and reactive oxygen species production.NEW & NOTEWORTHY In creatine-deficient AGAT-/- and GAMT-/- mice, the myocardial creatine kinase system is substrate limited. It is unknown whether subcellular localization and mitochondrial ADP channeling by hexokinase and adenylate kinase may compensate as alternative phosphotransfer systems. Our results show no changes in adenylate kinase, which is the main alternative to creatine kinase in heart. However, we found increased expression and activity of hexokinase I in AGAT-/- cardiomyocytes. This could affect mitochondrial regulation and reactive oxygen species production.

Amidinotransferases/deficiência , Erros Inatos do Metabolismo dos Aminoácidos/enzimologia , Creatina/deficiência , Metabolismo Energético , Guanidinoacetato N-Metiltransferase/deficiência , Hexoquinase/metabolismo , Deficiência Intelectual/enzimologia , Transtornos do Desenvolvimento da Linguagem/enzimologia , Mitocôndrias Cardíacas/enzimologia , Transtornos dos Movimentos/congênito , Miócitos Cardíacos/enzimologia , Distúrbios da Fala/enzimologia , Difosfato de Adenosina/metabolismo , Adenilato Quinase/metabolismo , Amidinotransferases/genética , Erros Inatos do Metabolismo dos Aminoácidos/genética , Animais , Respiração Celular , Creatina Quinase/metabolismo , Deficiências do Desenvolvimento/enzimologia , Deficiências do Desenvolvimento/genética , Modelos Animais de Doenças , Feminino , Guanidinoacetato N-Metiltransferase/genética , Deficiência Intelectual/genética , Transtornos do Desenvolvimento da Linguagem/genética , Masculino , Camundongos Endogâmicos C57BL , Camundongos Knockout , Transtornos dos Movimentos/enzimologia , Transtornos dos Movimentos/genética , Distúrbios da Fala/genética
N Engl J Med ; 383(26): 2501-2513, 2020 12 24.
Artigo em Inglês | MEDLINE | ID: mdl-33369354


BACKGROUND: The subthalamic nucleus is the preferred neurosurgical target for deep-brain stimulation to treat cardinal motor features of Parkinson's disease. Focused ultrasound is an imaging-guided method for creating therapeutic lesions in deep-brain structures, including the subthalamic nucleus. METHODS: We randomly assigned, in a 2:1 ratio, patients with markedly asymmetric Parkinson's disease who had motor signs not fully controlled by medication or who were ineligible for deep-brain stimulation surgery to undergo focused ultrasound subthalamotomy on the side opposite their main motor signs or a sham procedure. The primary efficacy outcome was the between-group difference in the change from baseline to 4 months in the Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS) motor score (i.e., part III) for the more affected body side (range, 0 to 44, with higher scores indicating worse parkinsonism) in the off-medication state. The primary safety outcome (procedure-related complications) was assessed at 4 months. RESULTS: Among 40 enrolled patients, 27 were assigned to focused ultrasound subthalamotomy (active treatment) and 13 to the sham procedure (control). The mean MDS-UPDRS III score for the more affected side decreased from 19.9 at baseline to 9.9 at 4 months in the active-treatment group (least-squares mean difference, 9.8 points; 95% confidence interval [CI], 8.6 to 11.1) and from 18.7 to 17.1 in the control group (least-squares mean difference, 1.7 points; 95% CI, 0.0 to 3.5); the between-group difference was 8.1 points (95% CI, 6.0 to 10.3; P<0.001). Adverse events in the active-treatment group were dyskinesia in the off-medication state in 6 patients and in the on-medication state in 6, which persisted in 3 and 1, respectively, at 4 months; weakness on the treated side in 5 patients, which persisted in 2 at 4 months; speech disturbance in 15 patients, which persisted in 3 at 4 months; facial weakness in 3 patients, which persisted in 1 at 4 months; and gait disturbance in 13 patients, which persisted in 2 at 4 months. In 6 patients in the active-treatment group, some of these deficits were present at 12 months. CONCLUSIONS: Focused ultrasound subthalamotomy in one hemisphere improved motor features of Parkinson's disease in selected patients with asymmetric signs. Adverse events included speech and gait disturbances, weakness on the treated side, and dyskinesia. (Funded by Insightec and others; number, NCT03454425.).

Ablação por Ultrassom Focalizado de Alta Intensidade , Doença de Parkinson/cirurgia , Núcleo Subtalâmico/cirurgia , Adulto , Idoso , Método Duplo-Cego , Discinesias/etiologia , Feminino , Transtornos Neurológicos da Marcha/etiologia , Ablação por Ultrassom Focalizado de Alta Intensidade/efeitos adversos , Ablação por Ultrassom Focalizado de Alta Intensidade/métodos , Humanos , Masculino , Pessoa de Meia-Idade , Destreza Motora , Doença de Parkinson/fisiopatologia , Complicações Pós-Operatórias , Índice de Gravidade de Doença , Distúrbios da Fala/etiologia
Rev. logop. foniatr. audiol. (Ed. impr.) ; 40(4): 187-193, oct.-dic. 2020.
Artigo em Espanhol | IBECS | ID: ibc-198693


Actualmente, existe un alto flujo de migración entre países debido a una multitud de factores tanto de índole político, social o económico y, en la mayoría de los casos, las personas no hablan el idioma del país donde van a establecerse. En este artículo se ofrecen sugerencias para lograr una colaboración óptima entre un/a intérprete de lenguas y el/la maestra de audición y lenguaje (AL) o el/la logopeda que desempeña su profesión en las escuelas en el caso de niños con lenguas familiares diferentes a la del contexto. En la primera sección del artículo se cubrirá una revisión del desarrollo de la tarea del intérprete como profesión. El proceso de colaboración entre un intérprete de lenguas y un logopeda o maestro AL que trabaja en las escuelas se ilustrará mediante la descripción del caso de Nadia, cuya familia emigró recientemente de Rumania a Madrid. Se cubrirán los siguientes temas: 1) Definiciones; 2) Características y responsabilidades del intérprete; 3) Responsabilidades del logopeda o maestro AL; 4) Cómo lograr un proceso adecuado dada la escasez de investigaciones sobre este tema en tres contextos diferentes: a) durante una entrevista con los padres de un estudiante que parece tener problemas del habla y lenguaje; b) durante la evaluación del habla y lenguaje del estudiante y c) durante el informe de resultados. En la parte final de este artículo se facilitará un resumen con ideas para formalizar este complicado proceso

There is currently a high flow of migration between countries due to many factors, political, social, and economic. In most cases, the people do not speak the language of the country where they will eventually settle. This article offers suggestions for optimal collaboration between a language interpreter and the hearing and language (HL) teacher or speech and language therapist who works in schools for children with family languages other than those of the context. The first section of the article will cover a review of how the interpreter's task is developing as a profession. The process of collaboration between a language interpreter and a speech and language therapist or HL teacher working in schools will be illustrated by describing the case of Nadia, whose family recently emigrated from Romania to Madrid. The following themes will be covered: 1) Definitions; 2) Characteristics and responsibilities of the interpreter; 3) Responsibilities of the speech and language therapist or HL teacher; 4) How to achieve an adequate process given the little research in this area in three different contexts: a) during an interview with the parents of a pupil who appears to have speech-language problems; b) during the assessment of the pupil's speech and language; and c) during the reporting of results. A summary with ideas for formalising this complicated process will be provided at the end of this article

Humanos , Feminino , Criança , Serviços de Saúde Escolar , Distúrbios da Fala/diagnóstico , Professores Escolares , Multilinguismo , Traduções , Fonoterapia
Zh Nevrol Psikhiatr Im S S Korsakova ; 120(10. Vyp. 2): 61-66, 2020.
Artigo em Russo | MEDLINE | ID: mdl-33205932


OBJECTIVE: To study clinical and neurophysiological features of speech disorders in PD, multisystem atrophy (MSA) and progressive supranuclear palsy (PNP). MATERIAL AND METHODS: Thirty-one patients with PD and 14 patients with MSA and PSP were examined. The Unified rating scale for Parkinson's disease of the International movement disorders society (MDS-UPDRS) and a neurophysiological analysis of speech disorders using acoustic spectral analysis of voice and speech according to the method of Jan Rusz et al (2004) were used. RESULTS: Patients with PD showed a parallel increase in the severity of axial motor disorders (hypomimia, walking disorders, postural disorders) and speech disorders. Patients with MSA and PSP differ not only from the PD patients but also among themselves by clinical presentations (motor, autonomic, cognitive) and speech disorders. CONCLUSION: The clinical and neurophysiological features of speech disorders in patients with various variants of parkinsonism will be useful in the differential diagnosis of these diseases and can be used in developing approaches to patient rehabilitation.

Atrofia de Múltiplos Sistemas , Transtornos Parkinsonianos , Paralisia Supranuclear Progressiva , Humanos , Fala , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/etiologia , Paralisia Supranuclear Progressiva/complicações , Paralisia Supranuclear Progressiva/diagnóstico
Rev. chil. fonoaudiol. (En línea) ; 19: 1-11, nov. 2020. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1148434


El estudio de la fluidez del habla, en distintas etapas del ciclo vital, es relevante porque contribuye tanto a la comprensión del desarrollo típico del habla como a la comprensión del habla patológica, lo que aporta al diagnóstico y al tratamiento. Los objetivos del trabajo son: a) determinar la presencia y distribución de las disfluencias en distintos grupos etarios y b) determinar si existe variación en la distribución de las disfluencias en relación con el género de los informantes. La muestra estuvo compuesta por 60 niños y adolescentes entre los 4.01 años y 15.0 años distribuidos en tres grupos. Los resultados indican que la prolongación de vocal fue la disfluencia más frecuente, mientras que la repetición de sílaba fue la menos presente en los grupos analizados. En el grupo de mujeres de menor edad hubo una cantidad significativamente alta de repetición de palabras. No se encontraron otras diferencias en relación con el género de los informantes. Finalmente, se discuten los resultados y algunas consideraciones relacionadas con la metodología en este tipo de investigaciones.

The study of fluency of speech, at different stages of the life cycle, is relevant in that it contributes both to the understanding of typical speech development and to the understanding of pathological speech, which is useful for diagnosis and treatment. The objectives of this work are a) to determine the presence and distribution of the disfluencies present in different age groups and b) to determine if there is variation in the distribution of disfluencies in relation to the gender of the informants. Thesample consisted of 60 children and adolescents between 4.01 years old and 15.0 years old distributed in three groups. The results indicate that vowel prolongation was the most frequent disfluency, while syllable repetition was the least present inthe groups analyzed. In the group of younger women, there was a significantly high amount of word repetition when comparing the presence of this disfluency in the other two groups. There were no more differences reported in relation to the gender ofthe informants. Finally, the results and some considerations related to the methodology in this type of research are discussed

Humanos , Masculino , Feminino , Criança , Adolescente , Fala/fisiologia , Distúrbios da Fala/fisiopatologia , Distúrbios da Fala/epidemiologia , Medida da Produção da Fala , Chile , Fatores Sexuais , Fatores Etários , Compreensão
Psychiatr Danub ; 32(Suppl 3): 311-315, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33030445


INTRODUCTION: The eleventh revision of the International Classification of Diseases (ICD-11) is planned to be published in 2018. So called, "beta version" of the chapter of mental and behavioral disorders (ICD-11) is already available and it is considered that there will be no significant deviations in the final version. The DSM-5 was released in 2013. Changes related to mental disorders in child and adolescent psychiatry have been made in both of these classifications. To identify changes in the classifications of mental disorders in childhood and adolescent age in beta version of ICD-11 and DSM-5. METHODS: Review of mental disorders in childhood and adolescent age and their classification in ICD-11 and DSM-5. RESULTS: For disorders that are classified as "mental retardation" in ICD-10, a new term "intellectual development disorders" has been introduced in ICD-11, ie "intellectual disabilities" in DSM-5. Hyperactivity disorders and attention deficit is a separate entity in relation to ICD-10, in which it is classified as a hyperkinetic disorder. Asperger's syndrome, which is isolated from autism spectrum disorders in DSM-5, does not appear under that name in ICD-11 either. Elimination disorders are in a separate block MKB-11 and DSM-5. Speech and language disorders are classified as communication disorders in the DSM-5 classification. Selective mutism and anxiety separation disorder in childhood are in the block of anxiety and fear-related disorders in ICD-11, and among anxiety disorders in DSM-5, respectively. Reactive emotional disorder and disinhibited attachment disorder of childhood are classified as stress-related disorders in ICD-11 and DSM-5. CONCLUSIONS: The new classifications (ICD-11 and DSM-5) classify mental disorders in child and adolescent psychiatry somewhat differently from their antecedents. New entities have also been formed.

Manual Diagnóstico e Estatístico de Transtornos Mentais , Classificação Internacional de Doenças , Transtornos Mentais/classificação , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/classificação , Criança , Humanos , Distúrbios da Fala/classificação
Rev. Cient. CRO-RJ (Online) ; 5(1): 64-68, Jan.-Apr. 2020.
Artigo em Inglês | LILACS, BBO - Odontologia | ID: biblio-1139947


Ankyloglossia is characterized by the presence of a short lingual frenum that can be inserted from the alveolar ridge to the lingual apex and, until promoting a true fusion of the tongue to the floor. A short lingual frenum can generate several problems such as phonetic disorders. Objective: To describe a surgical technique for the treatment of ankyloglossia using a topical ophthalmic anesthetic and a tentacannula for tongue elevation. Case report: A 15-year-old female was referred for lingual frenulum surgery due to speech impairment. Clinical examination revealed the presence of ankyloglossia which was both hindering the pronunciation of T, D, L phonemes and reducing tongue mobility. The surgical technique chosen was a lingual frenectomy. An ophthalmic topical anesthetic was initially applied to the lateral borders of the frenum with the patient in an upright position and in the presence of adequate aspiration. With the aid of a tentacannula the tongue was raised and the frenulum gradually released with a Goldman-Fox serrated scissor. The topical anesthetic was continuously trickled onto the surgical site during surgery. Results: No postoperative pain was reported by the patient, healing occurred normally and there was no recurrence of abnormal frenulum insertion. Conclusion: The advantages of this technique in comparison to conventional methods which use infiltrative anesthesia include less trauma and a more precise evaluation of tongue movements during surgery, because there will be better control of mobility for the patient when compared to infiltrative techniques.

Introdução: A anquiloglossia caracteriza-se pela presença de um freio lingual curto que pode inserir-se desde o rebordo alveolar até o ápice lingual e, até promover uma verdadeira fusão da língua ao assoalho. Um freio lingual curto poderá gerar vários problemas como distúrbios fonéticos. Objetivo: descrever uma técnica cirúrgica para tratamento da anquiloglossia utilizando um anestésico tópico oftálmico e uma tentacânula para elevação da língua. Relato do caso: Uma paciente com 15 anos de idade foi encaminhada para cirurgia do frênulo lingual devido ao comprometimento da fala. O exame clínico revelou a presença de anquiloglossia, dificultando a pronúncia dos fonemas T, D, L e, reduzindo a mobilidade da língua. A técnica cirúrgica escolhida foi a frenectomia lingual. Um anestésico tópico oftálmico foi aplicado inicialmente nas bordas laterais do freio com o paciente na posição vertical e na presença de aspiração adequada. Com o auxílio de uma tentacânula, a língua foi elevada e o frênulo foi gradualmente liberado com uma tesoura serrilhada Goldman-Fox. O anestésico tópico foi continuamente gotejado para o local cirúrgico durante a cirurgia. Resultados: Nenhuma dor pós-operatória foi relatada pelo paciente, a cicatrização ocorreu normalmente e não houve recorrência da inserção anormal do frênulo. Conclusão: As vantagens dessa técnica em comparação aos métodos convencionais que utilizam anestesia infiltrativa, incluem menor trauma e uma avaliação mais precisa dos movimentos da língua durante a cirurgia, pois haverá um melhor controle da mobilidade do paciente quando comparado às técnicas infiltrativas.

Doenças Estomatognáticas , Distúrbios da Fala , Transtorno Fonológico , Anquiloglossia , Anestésicos , Freio Labial
J Stroke Cerebrovasc Dis ; 29(10): 105074, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32912559


Recent evidence has underlined the association between large-vessel stroke and COVID-19, probably due to a proinflammatory and prothrombotic microenvironment induced by SARS-CoV-2. Here, we report the case of a young fit woman affected by COVID-19 without any flu-like symptom, who suffered from speech disorder and left hemiparesis. Brain magnetic resonance evidenced two small acute brain infarctions in right perirolandic cortex without signs of previous ischemic lesions and hemorrhagic infarction. Diagnostic workup excluded cardiac embolic sources, acquired and inherited thrombophilia or autoimmune diseases. Two positive nasopharyngeal swab tests and high titers of serum specific IgA/IgM confirmed COVID-19 diagnosis. In our case stroke seems to be the only manifestation of SARS-COV-2 infection. Therefore the hypothesis of an underlying viral infection, as COVID-19, should be investigated in all the cases of small vessel cryptogenic stroke.

Doenças de Pequenos Vasos Cerebrais/etiologia , Infecções por Coronavirus/complicações , Pneumonia Viral/complicações , Acidente Vascular Cerebral/etiologia , Betacoronavirus/patogenicidade , Doenças de Pequenos Vasos Cerebrais/diagnóstico por imagem , Doenças de Pequenos Vasos Cerebrais/virologia , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/virologia , Feminino , Interações entre Hospedeiro e Microrganismos , Humanos , Pessoa de Meia-Idade , Recursos Humanos de Enfermagem no Hospital , Pandemias , Paresia/etiologia , Pneumonia Viral/diagnóstico , Pneumonia Viral/virologia , Fatores de Risco , Distúrbios da Fala/etiologia , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/virologia
Int. j. med. surg. sci. (Print) ; 7(3): 1-16, sept. 2020. tab, ilus
Artigo em Espanhol | LILACS | ID: biblio-1151876


La apraxia del habla infantil (AHI) es un trastorno pediátrico poco común, en el que, si el niño o niña no es diagnosticado a tiempo, puede desencadenar graves consecuencias a futuro. Los métodos de diagnóstico existentes para este trastorno se encuentran disponibles en idiomas distintos al español, lo que conlleva una dificultad para encontrar un método de diagnóstico válido y consensuado por los fonoaudiólogos para aplicarse a la población hispanohablantes. Es por estoque este estudio pretende dar un primer aporte, realizando la traducción de una herramienta de pesquisa apta para el idioma español, que permita facilitar la labor fonoaudiológica en el diagnóstico. El método que se utilizará es el de traducción y validación de una herramienta de evaluación en salud, al cual se va a incorporar el análisis de un panel de expertos para brindarle validez al instrumento. Los resultados muestran una amplia aceptación del instrumento (94%resultados positivos) con un buen acuerdo entre jueces (IRR inter rater reliability) presentada como probabilidad de acuerdo para todo el instrumento de 0,57 (57%). En conclusión, este estudio brinda una pauta de pesquisa para la AHI, con el fin de facilitar la evaluación fonoaudiológica temprana de los niños y niñas, permitiendo que los usuarios puedan acceder a una atención especializada y confiable acordes con el diagnóstico.

Childhood apraxia of speech (CAS), is a rare disorder during childhood, and it can trigger serious consequences in the future if not treated promptly. The existing diagnostic methods for this disorder are found in the English language only, which leads to difficulties in finding valid and agreed diagnostic methods by speech therapists to apply to the Spanish-speaking population. Hence, this study aims to provide the translation of an evaluation tool which is suitable for Spanish-speaking countries and that facilitates phonoaudiological work in the diagnosis. The method that will be used is that of translation-retranslation, to which the analysis of an expert opinion will be incorporated to give validity to the instrument. The results expose a wide acceptance of the instrument (94% of positive results) with substantial agreement among experts (IRR inter rater reliability), presented as agreement probability for the entire instrument of 0.57 (57%). In conclusion, this study provides a research pattern for AHI, to facilitate the early phonoaudiological evaluation of children, allowing the patients to access reliable care regarding to diagnosis.

Apraxias/diagnóstico , Distúrbios da Fala/diagnóstico , Tradução , Inquéritos e Questionários , Fonoaudiologia/métodos
Am J Hum Genet ; 107(4): 683-697, 2020 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-32853554


More than 100 genetic etiologies have been identified in developmental and epileptic encephalopathies (DEEs), but correlating genetic findings with clinical features at scale has remained a hurdle because of a lack of frameworks for analyzing heterogenous clinical data. Here, we analyzed 31,742 Human Phenotype Ontology (HPO) terms in 846 individuals with existing whole-exome trio data and assessed associated clinical features and phenotypic relatedness by using HPO-based semantic similarity analysis for individuals with de novo variants in the same gene. Gene-specific phenotypic signatures included associations of SCN1A with "complex febrile seizures" (HP: 0011172; p = 2.1 × 10-5) and "focal clonic seizures" (HP: 0002266; p = 8.9 × 10-6), STXBP1 with "absent speech" (HP: 0001344; p = 1.3 × 10-11), and SLC6A1 with "EEG with generalized slow activity" (HP: 0010845; p = 0.018). Of 41 genes with de novo variants in two or more individuals, 11 genes showed significant phenotypic similarity, including SCN1A (n = 16, p < 0.0001), STXBP1 (n = 14, p = 0.0021), and KCNB1 (n = 6, p = 0.011). Including genetic and phenotypic data of control subjects increased phenotypic similarity for all genetic etiologies, whereas the probability of observing de novo variants decreased, emphasizing the conceptual differences between semantic similarity analysis and approaches based on the expected number of de novo events. We demonstrate that HPO-based phenotype analysis captures unique profiles for distinct genetic etiologies, reflecting the breadth of the phenotypic spectrum in genetic epilepsies. Semantic similarity can be used to generate statistical evidence for disease causation analogous to the traditional approach of primarily defining disease entities through similar clinical features.

Proteínas da Membrana Plasmática de Transporte de GABA/genética , Proteínas Munc18/genética , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Convulsões/genética , Espasmos Infantis/genética , Distúrbios da Fala/genética , Pré-Escolar , Estudos de Coortes , Feminino , Expressão Gênica , Ontologia Genética , Humanos , Masculino , Mutação , Fenótipo , Convulsões/classificação , Convulsões/diagnóstico , Convulsões/fisiopatologia , Semântica , Canais de Potássio Shab/genética , Espasmos Infantis/classificação , Espasmos Infantis/diagnóstico , Espasmos Infantis/fisiopatologia , Distúrbios da Fala/classificação , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/fisiopatologia , Terminologia como Assunto , Sequenciamento Completo do Exoma
Rev. neurol. (Ed. impr.) ; 71(3): 99-109, 1 ago., 2020. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-195455


INTRODUCCIÓN: El síndrome de deleción 22q11 (S22q11) es uno de los trastornos genéticos más prevalentes, y presenta múltiples alteraciones sistémicas y neuropsicológicas. OBJETIVO: Describir el perfil de lenguaje y pragmática asociado a este síndrome. PACIENTES Y MÉTODOS: Se evaluó una muestra de 30 participantes españoles con S22q11 de edades comprendidas entre 5 años, y 21 años y 11 meses (media: 12,14 ± 4,2 años) mediante pruebas estandarizadas y un cuestionario administrado a los padres. RESULTADOS: Casi la mitad de la muestra obtuvo mejores resultados en el lenguaje expresivo que en el comprensivo, y la mayoría logró una mayor puntuación en el contenido del lenguaje que en la memoria del lenguaje. Los resultados sugieren que las personas con S22q11 presentan dificultades de lenguaje que mejoran con la edad hasta cierto nivel y, posteriormente, se estabilizan. Se observa un perfil específico que sugiere que las dificultades pragmáticas son consecuencia de este perfil de lenguaje y no sólo de dificultades sociales ya descritas en esta patología. CONCLUSIONES: En la muestra del presente estudio, los niños y jóvenes con S22q11 presentan alteraciones específicas del lenguaje y la pragmática. Más de la mitad de los participantes del estudio no obtuvieron diferencias significativas entre el nivel de lenguaje expresivo y el receptivo. La mayoría presentó dificultades de fluencia semántica. El tipo y el grado de las alteraciones que presentan en las habilidades pragmáticas sugieren que el problema básico podría estar relacionado con sus dificultades lingüísticas

INTRODUCTION: The 22q11 deletion syndrome (S22q11) is one of the most prevalent genetic disorders, resulting in multiple systemic and neuropsychological features. AIM: To describe the language profile in a sample of Spanish subjects with S22q11. PATIENTS AND METHODS: A sample of 30 Spanish participants with S22q11 aged between 5 years and 21 years and 11 months (mean: 12.14 ± 4.20 years) was evaluated using standardized tests and a questionnaire administered to parents. RESULTS: Almost half of the subjects obtained better results in expressive language than in comprehensive language and the majority obtained a higher score in language content than in language memory. The results suggest that people with S22q11 present language difficulties that improve with age to a certain level and subsequently stabilize. A specific profile is observed that suggests that pragmatic difficulties are a consequence of this language profile and not only of social difficulties already described in this pathology. CONCLUSIONS: In the sample of the present study, children and young people with S22q11 present specific language and pragmatic disorders. More than half of the study participants did not obtain significant differences between the level of expressive and receptive language. Most presented semantic fluency difficulties. The type and degree of impairment in pragmatic skills suggest that the basic problem may be related to their language difficulties

Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Adulto , Deleção Cromossômica , Síndrome da Deleção 22q11/genética , Transtornos do Desenvolvimento da Linguagem/genética , Distúrbios da Fala/genética , Compreensão , Testes de Linguagem , Psicometria , Inquéritos e Questionários , Pais/psicologia , Memória/fisiologia