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1.
Br J Oral Maxillofac Surg ; 62(1): 30-37, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38057178

RESUMO

This review provides a comprehensive overview of the literature on velopharyngeal insufficiency, associated anomalies, and speech/language impairment in patients with craniofacial microsomia (CFM). A systematic search of the literature was conducted to identify records on VPI and speech impairment in CFM from their inception until September 2022 within the databases Embase, PubMed, MEDLINE, Ovid, CINAHL EBSCO, Web of Science, Cochrane, and Google Scholar. Seventeen articles were included, analysing 1,253 patients. Velopharyngeal insufficiency results in hypernasality can lead to speech impairment. The reported prevalence of both velopharyngeal insufficiency and hypernasality ranged between 12.5% and 55%, while the reported prevalence of speech impairment in patients with CFM varied between 35.4% and 74%. Language problems were reported in 37% to 50% of patients. Speech therapy was documented in 45.5% to 59.6% of patients, while surgical treatment for velopharyngeal insufficiency consisted of pharyngeal flap surgery or pharyngoplasty and was reported in 31.6% to 100%. Cleft lip and/or palate was reported in 10% to 100% of patients with CFM; these patients were found to have worse speech results than those without cleft lip and/or palate. No consensus was found on patient characteristics associated with an increased risk of velopharyngeal insufficiency and speech/language impairment. Although velopharyngeal insufficiency is a less commonly reported characteristic of CFM than other malformations, it can cause speech impairment, which may contribute to delayed language development in patients with CFM. Therefore, timely recognition and treatment of speech impairment is essential.


Assuntos
Fenda Labial , Fissura Palatina , Síndrome de Goldenhar , Transtornos do Desenvolvimento da Linguagem , Insuficiência Velofaríngea , Humanos , Insuficiência Velofaríngea/epidemiologia , Fala , Fenda Labial/cirurgia , Fissura Palatina/complicações , Fissura Palatina/cirurgia , Resultado do Tratamento , Distúrbios da Fala/epidemiologia , Distúrbios da Fala/etiologia , Distúrbios da Fala/cirurgia , Transtornos do Desenvolvimento da Linguagem/epidemiologia , Transtornos do Desenvolvimento da Linguagem/etiologia , Estudos Retrospectivos
2.
J Speech Lang Hear Res ; 66(3): 791-803, 2023 03 07.
Artigo em Inglês | MEDLINE | ID: mdl-36795544

RESUMO

PURPOSE: The purpose of this study was to investigate comorbidity prevalence and patterns in childhood apraxia of speech (CAS) and their relationship to severity. METHOD: In this retroactive cross-sectional study, medical records for 375 children with CAS (M age = 4;9 [years;months], SD = 2;9) were examined for comorbid conditions. The total number of comorbid conditions and the number of communication-related comorbidities were regressed on CAS severity as rated by speech-language pathologists during diagnosis. The relationship between CAS severity and the presence of four common comorbid conditions was also examined using ordinal or multinomial regressions. RESULTS: Overall, 83 children were classified with mild CAS; 35, with moderate CAS; and 257, with severe CAS. Only one child had no comorbidities. The average number of comorbid conditions was 8.4 (SD = 3.4), and the average number of communication-related comorbidities was 5.6 (SD = 2.2). Over 95% of children had comorbid expressive language impairment. Children with comorbid intellectual disability (78.1%), receptive language impairment (72.5%), and nonspeech apraxia (37.3%; including limb, nonspeech oromotor, and oculomotor apraxia) were significantly more likely to have severe CAS than children without these comorbidities. However, children with comorbid autism spectrum disorder (33.6%) were no more likely to have severe CAS than children without autism. CONCLUSIONS: Comorbidity appears to be the rule, rather than the exception, for children with CAS. Comorbid intellectual disability, receptive language impairment, and nonspeech apraxia confer additional risk for more severe forms of CAS. Findings are limited by being from a convenience sample of participants but inform future models of comorbidity. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.22096622.


Assuntos
Apraxias , Transtorno do Espectro Autista , Deficiência Intelectual , Transtornos do Desenvolvimento da Linguagem , Criança , Humanos , Pré-Escolar , Fala , Distúrbios da Fala/epidemiologia , Distúrbios da Fala/diagnóstico , Estudos Retrospectivos , Estudos Transversais , Transtorno do Espectro Autista/epidemiologia , Apraxias/epidemiologia , Apraxias/diagnóstico , Comorbidade , Transtornos do Desenvolvimento da Linguagem/diagnóstico
3.
Clin Neurol Neurosurg ; 211: 107014, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-34794058

RESUMO

BACKGROUND: Operculoinsular cortectomy is increasingly recognized as a therapeutic avenue for perisylvian refractory epilepsy. However, most neurosurgeons are reluctant to perform this type of procedure because of feared neurological complications, especially in the language-dominant hemisphere, as the insula is involved in speech and language processes. The goal of this retrospective study is to quantify the incidence and types of speech and language deficits associated with operculoinsulectomies in the dominant hemisphere for language, and to identify factors associated with these complications. METHODS: Clinical, imaging, and surgical data of all patients who had an operculoinsulectomy for refractory epilepsy at our center between 1998 and 2018 were reviewed. Language lateralization was determined by functional magnetic resonance imaging (fMRI) and/or Wada test. Speech and language assessments were carried out by neurosurgeons, neurologists, neuropsychologists and/or speech language pathologists, before surgery, during the first week after surgery, and at least 6 months after surgery. RESULTS: Amongst 44 operculoinsulectomies, 13 were performed in the language-dominant hemisphere. 46% of these patients presented with transient aphasia post-surgery. However, a few months later, the patients' performances on language assessments were not statistically different from before surgery, thus suggesting a complete recovery of speech and language functions. CONCLUSION: Temporary aphasias after operculoinsulectomy for refractory epilepsy in the language-dominant hemisphere are frequent, but eventually subside. Potential mechanisms underlying this recovery are discussed.


Assuntos
Epilepsia Resistente a Medicamentos/cirurgia , Córtex Insular/cirurgia , Complicações Pós-Operatórias/epidemiologia , Distúrbios da Fala/epidemiologia , Adolescente , Adulto , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Recuperação de Função Fisiológica , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
4.
Int J Pediatr Otorhinolaryngol ; 145: 110742, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33933988

RESUMO

OBJECTIVE: to compare the Frequency Following Responses of children with childhood apraxia of speech with typical development children. METHOD: this is an observational cross-sectional analytical study approved by Human Research Ethics Committee. Thirty normal hearing children have participated in the study. THEY WERE DIVIDED INTO TWO GROUPS: 1) study group - composed by 15 children diagnosed with childhood apraxia of speech (between the chronological ages of 3 and 11 years, mean age of 5,7 years); and 2) control group: composed by 15 children with typical development, paired by age and gender with study group. Frequency Following Response were recorded using the/da/syllable presentation rate at 10.9 ms. RESULTS: there was a significant delay in latencies of waves V, A and C of children with apraxia of speech, suggesting difficulties in the ability to process sounds. CONCLUSION: The delay on Frequency Following Response's latencies (waves V, A and C) in children with apraxia of speech maybe related to atypical neural coding of speech sounds, suggesting that apraxia of speech must not be purely considered as a motor speech disorder.


Assuntos
Apraxias , Percepção da Fala , Apraxias/diagnóstico , Apraxias/epidemiologia , Criança , Pré-Escolar , Estudos Transversais , Potenciais Evocados Auditivos do Tronco Encefálico , Humanos , Fonética , Fala , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/epidemiologia
5.
JAMA Otolaryngol Head Neck Surg ; 147(7): 615-623, 2021 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-33956062

RESUMO

Importance: Voice and speech production are critical physiological functions that affect quality of life and may deteriorate substantially after oropharyngeal cancer (OPC) treatment. There is limited knowledge about risk factors associated with voice and speech outcomes among survivors of OPC. Objective: To identify the risk factors of voice and speech symptoms among long-term survivors of OPC. Design, Setting, and Participants: This retrospective cohort study with cross-sectional survivorship survey administration includes cancer-free survivors of OPC who were treated curatively between January 2000 and December 2013 at MD Anderson Cancer Center (Houston, Texas) who participated in a survey from September 2015 to July 2016. Of 906 survivors of OPC with a median survival duration at time of survey of 6 years (range, 1-16 years), patient-rated voice and speech outcomes for 881 were available and analyzed. The data were analyzed from June 30, 2020, to February 28, 2021. Main Outcomes and Measures: The primary outcome variable was patient-reported voice and speech scores that were measured using the MD Anderson Symptom Inventory-Head and Neck Cancer Module. Voice and speech scores of 0 to 4 were categorized as none to mild symptoms, and scores of 5 to 10 were categorized as moderate to severe symptoms. Risk factors for moderate to severe voice and speech symptoms were identified by multivariable logistic regression. Results: Among 881 survivors of OPC (median [range] age, 56 [32-84] years; 140 women [15.5%]; 837 White [92.4%], 17 Black [1.9%], and 35 Hispanic individuals [3.8%]), 113 (12.8%) reported moderate to severe voice and speech scores. Increasing survival time (odds ratio [OR], 1.17; 95% CI, 1.06-1.30) and increasing total radiation dose (OR, 1.16; 95% CI, 1.00-1.34), Black race (OR, 3.90; 95% CI, 1.02-14.89), Hispanic ethnicity (OR, 3.74; 95% CI, 1.50-9.35), current cigarette smoking at the time of survey (OR, 3.98; 95% CI, 1.56-10.18), treatment with induction and concurrent chemotherapy (OR, 1.94; 95% CI, 1.06-3.57), and late (OR, 7.11; 95% CI, 3.08-16.41) and baseline lower cranial neuropathy (OR, 8.70; 95% CI, 3.01-25.13) were risk factors associated with moderate to severe voice and speech symptoms. Intensity-modulated radiotherapy split-field regimen (OR, 0.31; 95% CI, 0.12-0.80; P = .01) was associated with lower likelihood of moderate to severe voice and speech symptoms. Conclusions and Relevance: This large OPC survivorship cohort study identified many treatment-related factors, including increasing total radiotherapy dose, multimodality induction and concurrent chemotherapy regimens, and continued smoking, as well as clinical and demographic factors, as risk factors that were associated with moderate to severe voice and speech symptoms. The key findings in this study were the protective associations of split-field radiation and that longer-term survivors, and those who continued to smoke, had worse voice and speech symptoms. These findings may inform research and effective targeted clinical voice and speech preservation interventions and smoking cessation interventions to maximize voice and speech function and address quality of life among patients with OPC.


Assuntos
Sobreviventes de Câncer , Neoplasias Orofaríngeas/terapia , Medidas de Resultados Relatados pelo Paciente , Distúrbios da Fala/epidemiologia , Distúrbios da Voz/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Risco , Inquéritos e Questionários , Texas/epidemiologia
6.
Laryngoscope ; 131(11): 2497-2504, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-33881173

RESUMO

OBJECTIVES/HYPOTHESIS: To investigate the impact of specific treatment-related variables on functional and quality of life outcomes in oral cavity cancer (OCC) patients. STUDY DESIGN: Retrospective Cohort. METHODS: Patients with primary OCC at least 6 months after resection and adjuvant therapy were included. Patients completed surveys including the Speech Handicap Index (SHI), M.D. Anderson Dysphagia Inventory (MDADI), and Functional Assessment of Cancer Therapy-Head and Neck (FACT-HN). Performance Status Scale (PSS) and tongue mobility scale were completed to allow provider-rated assessment of speech and tongue mobility, respectively. Additional details regarding treatment were also collected. These data were used to generate a predictive model using linear regression. RESULTS: Fifty-three patients with oral tongue and/or floor of mouth (FOM) resection were included in our study. In multivariable analysis, greater postoperative tongue range of motion (ROM) and time since treatment improved SHI. Flap reconstruction and greater postoperative tongue ROM increased MDADI and PSS (eating and speech). A larger volume of resected tissue was inversely correlated with PSS (diet and speech). Tumor site was an important predictor of PSS (all sections). There were no statistically significant predictors of FACT-HN. CONCLUSIONS: In this pilot study, we propose a battery of tools to assess function in OCC patients treated with surgery. Using the battery of tools we propose, our results show that a surgical endpoint that preserves tongue mobility and employs flap reconstruction resulted in better outcomes, whereas those with greater volume of tissue resected and FOM involvement resulted in poorer outcomes. Larger prospective studies are needed to validate our findings. LEVEL OF EVIDENCE: 3 Laryngoscope, 131:2497-2504, 2021.


Assuntos
Quimiorradioterapia Adjuvante/efeitos adversos , Transtornos de Deglutição/epidemiologia , Neoplasias Bucais/terapia , Procedimentos Cirúrgicos Bucais/efeitos adversos , Distúrbios da Fala/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Deglutição/efeitos dos fármacos , Deglutição/efeitos da radiação , Transtornos de Deglutição/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Bucais/complicações , Projetos Piloto , Prognóstico , Estudos Prospectivos , Qualidade de Vida , Estudos Retrospectivos , Medição de Risco/métodos , Medição de Risco/estatística & dados numéricos , Fala/efeitos dos fármacos , Fala/efeitos da radiação , Distúrbios da Fala/etiologia , Adulto Jovem
7.
J Autism Dev Disord ; 51(8): 2773-2789, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33095352

RESUMO

This paper analyses disfluencies and ungrammatical expressions in the speech of 11-13-year-old Finnish-speaking boys with ASD (N = 5) and with neurotypical development (N = 6). The ASD data were from authentic group therapy sessions and neurotypical data from teacher-led group discussions. The proportion of disfluencies and ungrammatical expressions was greater in the speech of participants with ASD (26.4%) than in the control group (15.5%). Furthermore, a qualitative difference was noted: The ASD group produced long, complex disfluent turns with word searches, self-repairs, false starts, fillers, prolongations, inconsistent syntactic structures and grammatical errors, whereas in the control group, the disfluencies were mainly fillers and sound prolongations. The disfluencies and ungrammatical expressions occurring in the ASD participants' interactions also caused comprehension problems.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/epidemiologia , Fala/fisiologia , Adolescente , Transtorno do Espectro Autista/terapia , Criança , Compreensão/fisiologia , Finlândia/epidemiologia , Humanos , Transtornos da Linguagem/diagnóstico , Transtornos da Linguagem/epidemiologia , Masculino , Psicoterapia de Grupo/métodos , Distúrbios da Fala/terapia , Medida da Produção da Fala/métodos
8.
Parkinsonism Relat Disord ; 82: 138-145, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33092981

RESUMO

Functional movement disorders are commonly seen in neurology services and may coexist with other neurological diseases. This combination is known as "functional overlay" and an increasing interest on this topic has emerged in the past decade as the field of functional neurological disorders has moved forward. Some neurological diseases may be more prone to develop "functional overlay" than others, and within the field of movement disorders, most studies have focused on patients with Parkinson's disease. This review comprehensively summarizes the current body of knowledge on this topic and provides an expert opinion to equip clinicians with a pragmatic approach to recognize functional movement disorders in patients with Parkinson's disease, to communicate the diagnosis and to become familiar with potential therapies in this complex clinical scenario. Potential underlying mechanisms and risk factors that may play a role in increasing the vulnerability of Parkinson's disease patients to develop functional movement disorder comorbidity are also discussed within the framework of modern neurobiological theories of brain functioning.


Assuntos
Transtorno Conversivo/epidemiologia , Discinesias/epidemiologia , Transtornos Neurológicos da Marcha/epidemiologia , Doença de Parkinson/epidemiologia , Distúrbios da Fala/epidemiologia , Tremor/epidemiologia , Comorbidade , Transtorno Conversivo/diagnóstico , Discinesias/diagnóstico , Transtornos Neurológicos da Marcha/diagnóstico , Humanos , Doença de Parkinson/diagnóstico , Distúrbios da Fala/diagnóstico , Tremor/diagnóstico
9.
BMC Pediatr ; 20(1): 519, 2020 11 13.
Artigo em Inglês | MEDLINE | ID: mdl-33187500

RESUMO

BACKGROUND: Childhood apraxia of speech (CAS) is a neurodevelopmental disorder with heterogeneous communication and other comorbid manifestations. While previous studies have characterized speech deficits associated with CAS, few studies have examined variability in reading and language and/or other developmental comorbidities. We sought to identify comorbid subgroups within CAS that could be clinically relevant as well as genetically distinctive. METHODS: In a group of 31 children with CAS and 8 controls, we performed hierarchical cluster analysis utilizing measures of articulation, vocabulary, and reading. We also conducted a chart review of the children with CAS to examine other clinical characteristics in these children and their association with subgroup membership. RESULTS: We identified 3 comorbid subgroups within CAS of varying severity. The high severity subgroup was characterized by poor reading and vocabulary, and the moderate severity subgroup by poor reading and non-word repetition but average vocabulary, compared to the mild severity subgroup. Subgroups were indistinguishable with respect to speech sound production, the hallmark of CAS, all demonstrating poor articulation. Children in the most severe subgroup were more likely to have early problems feeding (p = 0.036). CONCLUSIONS: Children with CAS may potentially be classified into comorbidity groups based on performance on vocabulary and reading measures, providing additional insight into the heterogeneity within CAS with implications for educational interventions.


Assuntos
Apraxias , Transtornos do Desenvolvimento da Linguagem , Apraxias/diagnóstico , Apraxias/epidemiologia , Criança , Humanos , Fonética , Fala , Distúrbios da Fala/epidemiologia
10.
Rev. chil. fonoaudiol. (En línea) ; 19: 1-11, nov. 2020. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1148434

RESUMO

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


Assuntos
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
11.
BMC Med Inform Decis Mak ; 20(1): 268, 2020 10 17.
Artigo em Inglês | MEDLINE | ID: mdl-33069223

RESUMO

BACKGROUND: Autism is a lifelong disability associated with several comorbidities that confound diagnosis and treatment. A better understanding of these comorbidities would facilitate diagnosis and improve treatments. Our aim was to improve the detection of comorbid diseases associated with autism. METHODS: We used an FP-growth algorithm to retrospectively infer disease associations using 1488 patients with autism treated at the Guangzhou Women and Children's Medical Center. The disease network was established using Cytoscape 3.7. The rules were internally validated by 10-fold cross-validation. All rules were further verified using the Columbia Open Health Data (COHD) and by literature search. RESULTS: We found 148 comorbid diseases including intellectual disability, developmental speech disorder, and epilepsy. The network comprised of 76 nodes and 178 directed links. 158 links were confirmed by literature search and 105 links were validated by COHD. Furthermore, we identified 14 links not previously reported. CONCLUSION: We demonstrate that the FP-growth algorithm can detect comorbid disease patterns, including novel ones, in patients with autism.


Assuntos
Povo Asiático/estatística & dados numéricos , Transtorno Autístico/epidemiologia , Epilepsia/epidemiologia , Deficiência Intelectual/epidemiologia , Distúrbios da Fala/epidemiologia , Adolescente , Transtorno Autístico/diagnóstico , Transtorno Autístico/etnologia , Criança , Pré-Escolar , Comorbidade , Feminino , Humanos , Classificação Internacional de Doenças , Masculino , Estudos Retrospectivos
12.
J Neurol Neurosurg Psychiatry ; 91(12): 1270-1278, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33055140

RESUMO

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.


Assuntos
Estimulação Encefálica Profunda/métodos , Tremor Essencial/terapia , Ablação por Ultrassom Focalizado de Alta Intensidade/métodos , Tremor Essencial/fisiopatologia , Transtornos Neurológicos da Marcha/epidemiologia , Transtornos Neurológicos da Marcha/fisiopatologia , Humanos , Hipestesia/epidemiologia , Hipestesia/fisiopatologia , Neuroestimuladores Implantáveis , Imageamento por Ressonância Magnética , Procedimentos Neurocirúrgicos , Parestesia/epidemiologia , Parestesia/fisiopatologia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/fisiopatologia , Implantação de Prótese , Distúrbios da Fala/epidemiologia , Distúrbios da Fala/fisiopatologia , Cirurgia Assistida por Computador , Tálamo/cirurgia , Resultado do Tratamento
13.
J Intellect Disabil Res ; 64(12): 956-969, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-33034087

RESUMO

BACKGROUND: Ultrarare Marshall-Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour are studied and compared in a cross-sectional study, and results are presented with genetic findings. METHODS: Behavioural phenotypes are compared of eight individuals with Marshall-Smith syndrome (three male individuals) and seven with Malan syndrome (four male individuals). Long-term follow-up assessment of cognition and adaptive behaviour was possible in three individuals with Marshall-Smith syndrome. RESULTS: Marshall-Smith syndrome individuals have more severe ID, less adaptive behaviour, more impaired speech and less reciprocal interaction compared with individuals with Malan syndrome. Sensory processing difficulties occur in both syndromes. Follow-up measurement of cognition and adaptive behaviour in Marshall-Smith syndrome shows different individual learning curves over time. CONCLUSIONS: Results show significant between and within syndrome variability. Different NFIX variants underlie distinct clinical phenotypes leading to separate entities. Cognitive, adaptive and sensory impairments are common in both syndromes and increase the risk of challenging behaviour. This study highlights the value of considering behaviour within developmental and environmental context. To improve quality of life, adaptations to environment and treatment are suggested to create a better person-environment fit.


Assuntos
Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/fisiopatologia , Doenças do Desenvolvimento Ósseo/epidemiologia , Doenças do Desenvolvimento Ósseo/fisiopatologia , Anormalidades Craniofaciais/epidemiologia , Anormalidades Craniofaciais/fisiopatologia , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/fisiopatologia , Transtornos Mentais/epidemiologia , Displasia Septo-Óptica/epidemiologia , Displasia Septo-Óptica/fisiopatologia , Distúrbios da Fala/epidemiologia , Adaptação Psicológica , Adolescente , Adulto , Criança , Pré-Escolar , Comorbidade , Estudos Transversais , Feminino , Seguimentos , Humanos , Masculino , Transtornos Mentais/fisiopatologia , Países Baixos/epidemiologia , Fenótipo , Distúrbios da Fala/fisiopatologia , Síndrome , Adulto Jovem
14.
Dev Med Child Neurol ; 62(12): 1414-1422, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32686098

RESUMO

AIM: To define the epidemiology, clinical characteristics, and rehabilitation status of children with cerebral palsy (CP) in Sumba Island, Indonesia. METHOD: A community-based key informant method survey among children (aged <18y) with CP was conducted between March and August 2017. Children with suspected CP underwent detailed neurodevelopmental assessment by a multidisciplinary medical team. Socio-demographic characteristics, aetiology, motor type, motor severity, associated impairments, educational, and rehabilitation status were documented. RESULTS: There were 130 children with clinically confirmed CP. The mean age at assessment was 8 years 11 months and 43.8% (n=57) of the children were female. The mean age at CP diagnosis was 6 years 5 months. Of these children, 46.9% (n=61) had post-neonatally acquired CP, most frequently because of vaccine-preventable infectious encephalopathy (73.8%, n=45). In total, 80.8% (n=105) had a predominantly spastic motor type of CP and 83.8% (n=109) were classified in Gross Motor Functional Classification System levels III to V. A total of 77.7% (n=101) had at least one associated impairment (speech 77.5%, intellectual 29.2%, visual 13.8%, hearing 20.0%, and epilepsy 13.5%). And 66.2% (n=86) had never received rehabilitation services. INTERPRETATION: Post-neonatally acquired CP was common in this setting. Addressing preventable post-neonatally acquired risk factors for CP should be a public health priority. Earlier identification and diagnosis of CP would also provide new opportunities for early intervention and targeted rehabilitation services.


Assuntos
Infecções do Sistema Nervoso Central/epidemiologia , Paralisia Cerebral/epidemiologia , Epilepsia/epidemiologia , Transtornos da Audição/epidemiologia , Deficiência Intelectual/epidemiologia , Distúrbios da Fala/epidemiologia , Transtornos da Visão/epidemiologia , Adolescente , Infecções do Sistema Nervoso Central/complicações , Paralisia Cerebral/etiologia , Paralisia Cerebral/fisiopatologia , Criança , Comorbidade , Epilepsia/etiologia , Feminino , Transtornos da Audição/etiologia , Humanos , Indonésia/epidemiologia , Deficiência Intelectual/etiologia , Masculino , Distúrbios da Fala/etiologia , Transtornos da Visão/etiologia
15.
Acta Neurol Scand ; 142(3): 216-220, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32198926

RESUMO

BACKGROUND: During the latest decades, the hypothesis that the subjective experience of free will is determined by preconscious activity in the dominant dorsal medial frontal cortex (dMFC) has repeatedly challenged our commonly held concepts of moral responsibility. AIMS OF THE STUDY: To investigate whether dMFC activity determines the sense of free will and to investigate the effects of resections in this area on quality of life (QoL). METHODS: A cohort of nine patients affected by transient declines in speech and movement skills after surgery involving the left dMFC answered questions about their post-operative, subjective experiences of volition in relation to symptoms. In eight cases, resections were performed as part of glioma surgery, and in the ninth case, a meningioma adjacent to the dMFC was resected. In addition, a QoL questionnaire was administrated before and after surgery. RESULTS: None of the patients perceived the transient disabilities related to surgery as associated with a loss or absence of volition. No declines in QoL were detected after surgery. Two QoL domains showed improved function (motor dysfunction and future uncertainty). CONCLUSIONS: The subjective sense of volition is not contingent on dMFC activity. Surgical resections of this area are not typically associated with declines in QoL.


Assuntos
Neoplasias Encefálicas/psicologia , Neoplasias Encefálicas/cirurgia , Lobo Frontal/cirurgia , Glioma/psicologia , Glioma/cirurgia , Adulto , Idoso , Estudos de Coortes , Avaliação da Deficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos dos Movimentos/epidemiologia , Transtornos dos Movimentos/etiologia , Complicações Pós-Operatórias/psicologia , Desempenho Psicomotor , Qualidade de Vida , Distúrbios da Fala/epidemiologia , Distúrbios da Fala/etiologia , Inquéritos e Questionários , Volição
16.
Can Fam Physician ; 66(3): e107-e114, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32165481

RESUMO

OBJECTIVE: To validate a case definition for speech and language disorders in community-dwelling older adults and to determine the prevalence of speech and language disorders in a primary care population. DESIGN: This is a combined case definition validation and cross-sectional prevalence study. Chart review was considered the reference standard and was used to estimate prevalence. This study used de-identified electronic medical record data from participating SAPCReN-CPCSSN (Southern Alberta Primary Care Research Network-Canadian Primary Care Sentinel Surveillance Network) primary care clinics. SETTING: Southern Alberta. PARTICIPANTS: Men and women aged 55 years and older who had visited a SAPCReN-CPCSSN physician or nurse practitioner at least once in the 2 years before the beginning of the study. MAIN OUTCOME MEASURES: Validation analysis included estimation of sensitivity, specificity, positive predictive value, and negative predictive value. Prevalence was the other main outcome measure. RESULTS: The prevalence of speech and language disorders within the sample of 1384 patients was 1.2%. The case definition had a favourable specificity (99.9%, 95% CI 99.6% to 100.0%), positive predictive value (75.6%, 95% CI 25.4% to 96.6%), and negative predictive value (99.0%, 95% CI 98.8% to 99.2%). Sensitivity was not sufficient for validity (18.8%, 95% CI 4.05% to 45.6%). CONCLUSION: The case definition did not meet an acceptable standard for validity and thus cannot be used for future epidemiologic research. However, owing to the case definition's high positive predictive value, it might be useful for clinical purposes and for cohort studies. Finally, while the case definition did not prove valid, this study has provided a conservative estimate of prevalence (1.2%) given the case definition's high specificity.


Assuntos
Atenção Primária à Saúde , Distúrbios da Fala/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Alberta/epidemiologia , Estudos Transversais , Registros Eletrônicos de Saúde , Feminino , Humanos , Vida Independente , Masculino , Pessoa de Meia-Idade , Prevalência , Estudos Retrospectivos , Vigilância de Evento Sentinela
17.
Cerebellum ; 19(1): 126-130, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31701351

RESUMO

Speech and language disorders are prominent signs in Friedreich ataxia (FRDA), which significantly impact on patients' quality of life. Despite such relevance, several issues regarding phenomenology, assessment, and treatment are still unmet. In this short review, we thus analyzed the existing literature to summarize what is known about the features of speech and language disorders in FRDA, which methods are used for evaluation and rating, and what are the available therapeutic strategies and future direction of scientific research in this field, in order to highlight critical aspects for a better clinical approach to the problem. FRDA patients often present dysarthria, resulting from central and peripheral causes and additional primary language disorders. Speech disturbances have peculiar characteristics, although variable among patients, and progress along the disease course. Assessment relies on multiple but not specific clinical scales, some of which can also reflect the general severity of ataxia; classical instrumental investigations and novel technologies allow more accurate measurements of several speech parameters, which could found application as potential disease's biomarkers. No successful treatments exist for communication disorders of FRDA patients; however, the tailored speech training or the non-invasive neuromodulation appear as the most reliable therapeutic options to be validate in future trials.


Assuntos
Ataxia de Friedreich/diagnóstico , Ataxia de Friedreich/epidemiologia , Transtornos da Linguagem/diagnóstico , Transtornos da Linguagem/epidemiologia , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/epidemiologia , Ataxia de Friedreich/terapia , Humanos , Transtornos da Linguagem/terapia , Distúrbios da Fala/terapia , Resultado do Tratamento
18.
Eur J Paediatr Neurol ; 25: 139-144, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31866100

RESUMO

AIMS: Results from a previous study indicated that children with Rolandic epilepsy (RE) exhibit abnormalities of oromotor and dichotic listening performance. The current study aimed to investigate whether the same individuals, 10 years later, still exhibited differences between the groups. Earlier literature suggests that children with RE normalize after remission and as they become adults. More recent studies have, on the contrary, suggested that there is a risk for residual oromotor and language deficits after remission. METHODS: Eleven young adults with RE and 9 matched controls were retested 10 years after participating in a study investigating oromotor ability, articulation, dichotic listening ability, and phonological and semantic word retrieval. RESULTS: Results of this longitudinal study indicated that there was a persistent, albeit reduced, difference between the groups, after remission, in dichotic listening and, to some extent, oromotor performance. Articulation and word retrieval did not differ between the groups. CONCLUSION: Young adults with previous RE in childhood have a moderate risk for persistent difficulties in verbal perception and oromotor performance.


Assuntos
Epilepsia Rolândica/complicações , Transtornos da Linguagem/etiologia , Distúrbios da Fala/etiologia , Adolescente , Criança , Testes com Listas de Dissílabos , Feminino , Seguimentos , Humanos , Transtornos da Linguagem/epidemiologia , Estudos Longitudinais , Masculino , Distúrbios da Fala/epidemiologia , Adulto Jovem
19.
Child Psychiatry Hum Dev ; 51(3): 355-365, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-31802296

RESUMO

Anxiety and depression are common emotional problems in children and adolescents. This study used a long-term tracking large database to investigate whether the proportion of children who were diagnosed with speech and language impairments were later diagnosed with anxiety or depression were significantly greater than that of matched group of the same age and gender without speech and language impairments. More than 4300 eligible children with speech and language impairments and matched controls were identified and assessed for anxiety and depression. The risk of anxiety and depressive disorders in children with speech and language impairments were examined with Cox regression analyses and adjusting for covariables (gender, age, and comorbidities). The results showed that speech and language impairments were positively associated with anxiety disorders (adjusted hazard ratio [AHR] 2.87, 95% confidence interval [CI] 2.20-3.76) and depressive disorders (AHR 2.51, 95% CI 1.52-4.13). The number of boys with speech and language impairments was more than twofold that of girls, but boys did not different from girls in the risk of anxiety disorders (AHR 0.95, 95% CI 0.75-1.20) and depressive disorders (AHR 0.72, 95% CI 0.47-1.11). Infantile autism and intellectual disabilities were positively associated with anxiety (AHR 1.54, 95% CI 1.07-2.21; AHR 1.47, 95% CI 1.09-1.98), and the latter was positively associated with depression (AHR 1.83, 95% CI 1.06-3.17). In addition to speech and language impairments interventions, our findings supported the necessity of identification and interventions in anxiety and depressive disorders among children with speech and language impairments from elementary school until youth.


Assuntos
Transtornos de Ansiedade/epidemiologia , Transtorno Depressivo/epidemiologia , Transtornos da Linguagem/epidemiologia , Adolescente , Criança , Comorbidade , Feminino , Humanos , Masculino , Instituições Acadêmicas , Distúrbios da Fala/epidemiologia , Taiwan/epidemiologia
20.
Ital J Pediatr ; 45(1): 124, 2019 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-31615557

RESUMO

BACKGROUND: Early diagnosis and intervention play a vital role in hearing and speech disorders and the effect of intervention varies according to the age at onset of training of children with such disorders. Aim of this study is to investigate the age at onset of training in children admitted to our center with complaints of hearing and speech disorder, and the related factors. METHODS: In the first phase of the study, data of 473 children admitted to our center between January 2015 and October 2018 with complaints of hearing and speech disorders and no additional disability were retrospectively analyzed. Then, their chronological age, gender, cause of admission, age at onset of training and the effect of factors that may have an impact on the age at onset of training were analyzed statistically. Study data were obtained from patient records. RESULTS: Of 473 children (350 males and 123 females) admitted to our training center with the complaints of hearing and speech disorders, 252 (53.3%) were presented with speech sound disorders, 90 (19.0%) with stuttering, 87 (18.4%) with delayed speech, 32 (6.8%) with hearing loss and 12 (2.5%) with other causes. Although there was a statistically significant difference between the age at onset of training and the factors; such as cause of admission, parental education level, employment status of the mother, occupation of the father, and socioeconomic status of the family (p < 0.05), no statistically significant difference was found between the age at onset of training and gender (p > 0.05). CONCLUSIONS: The study revealed that children with hearing loss have the chance of early diagnosis thanks to neonatal hearing screening programs and that they commence their training until the age of 2, which is considered to be a critical period for language and speech development. However, it is an undeniable fact that we have not yet reached the ideal age for the commencement of training (6th month). Similarly, the age of diagnosis and initiation of training is delayed in children with speech disorders due to families' delayed referral to the training centers.


Assuntos
Perda Auditiva/reabilitação , Transtornos do Desenvolvimento da Linguagem/reabilitação , Distúrbios da Fala/reabilitação , Adolescente , Idade de Início , Criança , Pré-Escolar , Feminino , Perda Auditiva/epidemiologia , Humanos , Lactente , Transtornos do Desenvolvimento da Linguagem/epidemiologia , Masculino , Estudos Retrospectivos , Fatores Socioeconômicos , Distúrbios da Fala/epidemiologia , Turquia
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