Descripción clínica de pacientes pediátricos con enfermedades neuromusculares en una muestra de población chilena / Clinical description of pediatric patients with neuromuscular diseases in a Chilean population sample

OBJETIVO: Describir clínica y diagnóstico de 152 pacientes pediátricos asistentes al policlínico del Programa de Enfermedades Neuromusculares (ENM) en un centro terciario de la Región Metropolitana, Chile. METODOLOGÍA: Revisión de fichas programa EMN (2012-2016). RESULTADOS: 49% niñas, mediana de edad: 9 años (rango, 0­18), consultan por alteraciones de la marcha, debilidad e hipotonía. Segmentos más afectados son músculo y nervio periférico (92%). Diagnósticos más frecuentes son neuropatías adquiridas (26,1%), distrofias musculares (14,8%) y trastornos miotónicos (12,7%). Comorbilidades más frecuentes son patología traumatológica (23,2%) y discapacidad intelectual (13,4%). Los pacientes con patología hereditaria tienen mayor chance de requerir ventilación mecánica (OR 15,4; IC 95% 1,9­119,2) y presentar morbilidad traumatológica (OR 4,1; IC 1,03­16,4) que los con patología adquiridas. Confirmación genético-molecular en 38,4% de los pacientes con patología hereditaria. CONCLUSIONES: El conocimiento de características clínicas y posibilidades de estudio de las ENM puede mejorar las estrategias de atención.

INTRODUCTION: Neuromuscular diseases (NMS) represent a heterogeneous group of acquired and hereditary pathologies that affect the motor unit. There are few descriptive studies of patients with NMS in Chile and Latin America. OBJECTIVES: To clinically and epidemiologically characterize the pediatric population attending a polyclinic run using the NMS program of a hospital in the Metropolitan Region in Chile. Methodology: A review was made of database and clinical records of patients diagnosed with NMS between January 2012 and December 2016. RESULTS: A total of 142 patients, 51% of whom were male, with a median age 9 years (0-18 years), were included. The most frequent reasons for consultation were altered gait, decreased strength, and hypotonia. The most frequently affected segments were muscles and peripheral nerves (92% of the sample). The most frequent diagnoses were acquired neuropathies (26.1%), muscular dystrophies (14.8%), and myotonic disorders (12.7%). The most frequent comorbidities were traumatological pathologies (23.2%) and intellectual disabilities (13.4%). When comparing NMS with hereditary vs. acquired etiologies, those with hereditary etiologies had a higher risk of requiring mechanical ventilation (OR 15.4 [95%CI 1.9-119.2]) and having a traumatological disease (OR 4.1 [CI 1.03-16.4]) compared to those with acquired etiologies. For 38.4% of patients with hereditary etiologies, confirmation was obtained through molecular genetic testing. CONCLUSIONS: This study provides information on the frequency of NMS and their main comorbidities in a Chilean pediatric sample. These results provide information regarding current possibilities for studies and could aid in planning care for these patients in our country. Keywords: Neuromuscular disease, Muscular disease, Neuropathies, Neurological Diagnostic.

Descripción clínica de pacientes pediátricos con Enfermedades Neuromusculares en una muestra de población chilena / Neuromuscular Disease: Clinical and Epidemiological Characterization of a Chilean Pediatric Population

Las Enfermedades Neuromusculares (ENM) representan un grupo heterogéneo de patologías adquiridas y hereditarias que afectan la unidad motora. Existen escasos estudios descriptivos en Chile y Latinoamérica de pacientes con ENM. Objetivo: Caracterizar clínica y epidemiológicamente a población pediátrica asistente a policlínico del Programa de ENM en periodo de 3 años en hospital de Región Metropolitana. Pacientes y Método: Revisión de base de datos y fichas clínicas de pacientes con diagnóstico de ENM entre enero 2012 y diciembre 2016. Resultados: 142 pacientes, 51% sexo masculino, mediana de edad 9 años (0-18). Motivos de consulta frecuentes fueron alteración de la marcha, falta de fuerza e hipotonía. Los segmentos más afectados fueron músculo y nervio periférico (92% de la muestra). Los diagnósticos más frecuentes fueron Neuropatías Adquiridas (26,1%), Distrofias Musculares (14,8%) y Trastornos Miotónicos (12,7%). Las comorbilidades más frecuentes fueron las patologías traumatológicas (23,2%) y discapacidad intelectual (13.4%). Los pacientes con patología hereditaria presentaron mayor riesgo de requerimiento de ventilación mecánica (OR 15,4 [IC 95% 1.9-119.2]) y comorbilidad traumatológica (OR 4,1[IC 1.0316.4]) que los con patología adquiridas. 38,4 % de los pacientes con etiología hereditaria tuvieron confirmación genético-molecular. Conclusiones: Este estudio da información de la frecuencia de las distintas ENM y sus principales comorbilidades en una muestra pediátrica chilena. Aporta datos referentes a las posibilidades de estudio disponible en nuestro país y podría ser de ayuda en la planificación de la atención de estos pacientes. Palabras claves: enfermedad neuromuscular, enfermedad muscular, neuropatías, diagnóstico neurológico.

Neuromuscular diseases (NMS) represent a heterogeneous group of acquired and hereditary pathologies that affect the motor unit. There are few descriptive studies of patients with NMS in Chile and Latin America. Objective: To clinically and epidemiologically characterize the pediatric population attending a NMS polyclinic of a hospital in the Metropolitan region. Methodology: A database and clinical record review of patients diagnosed with NMS between January 2012 and December 2016 was performed. Results: A total of 142 patients, 51% of whom were male, with a median age 9 years (0-18 years), were included. The most frequent reasons for consultation were altered gait, lack of strength, and hypotonia. The most frequently affected segments were muscles and peripheral nerves (92% of the sample). The most frequent diagnoses were acquired neuropathies (26.1%), muscular dystrophies (14.8%), and myotonic disorders (12.7%). The most frequent comorbidities were traumatological pathologies (23.2%), and intellectual disabilities (13.4%). When comparing NMS with hereditary vs. acquired etiologies, those with hereditary etiologies had a higher risk of requiring mechanical ventilation (OR 15.4 [95%CI 1.9-119.2]) and having traumatological disease (OR 4.1 [CI 1.03-16.4]), compared to those with acquired etiologies. For 38.4% of patients with hereditary etiologies, confirmation was obtained through a molecular genetic test. Conclusions: This study provides information on the frequency of NMS and their main comorbidities in a Chilean pediatric sample. These results provide information regarding current possibilities for studies and could aid in planning care for these patients in our country. Palabras claves: Neuromuscular disease, Muscular disease, Neuropathies, Neurological Diagnostic.

Prevalência de traumatismos dentários em pacientes com distúrbio neuropsicomotor: estudo controlado / Prevalence of tooth injuries in patients with neuropsychomotor disorder

Introdução: Lesões dentárias por trauma constituem experiências angustiantes em crianças, que promovem alterações tanto físicas quanto emocionais e psicológicas. Objetivo: Avaliar a prevalência de traumatismos dentários em pacientes com distúrbio neuropsicomotor e comparar a indivíduos normorreativos. Material e método: Avaliaram-se 120 indivíduos, sendo 60 com alterações neuropsicomotoras (grupo de estudo) e 60 normorreativos (grupo controle), de ambos os sexos, de 2 a 15 anos de idade, assistidos na Fundação de Apoio ao Deficiente do Governo do Estado da Paraíba. Os dados foram coletados por meio de questionário estruturado e exame clínico. Foi realizada análise descritiva e inferencial (teste t-student; teste Exato de Fisher), adotando-se um nível de significância de 5%. Resultado: A prevalência de traumatismos dentários observada em pacientes com distúrbio neuropsicomotor foi de 20,0%, enquanto que no grupo controle foi de 16,6% (p>0,05); no grupo controle a ocorrência foi maior no sexo masculino. Os grupos diferiram quanto ao tipo de atividade no momento do trauma (p<0,05) em relação à etiologia (p<0,05) e em relação ao local de ocorrência (p<0,05). Para ambos os grupos, os dentes mais afetados foram os incisivos centrais superiores. As fraturas de esmalte, seguidas pelas de esmalte e dentina sem exposição pulpar foram as lesões mais comuns nos dois grupos. Conclusão: A prevalência de traumatismos dentários em indivíduos com alteração neuropsicomotora é similar à de indivíduos normorreativos, com maior ocorrência no sexo feminino, em fase anterior à adolescência, durante atividades de rotina.

Introduction: Traumatic dental injuries are distressing experiences in children, which promote both physical, emotional and psychological changes. Objective: To evaluate the prevalence of dental trauma in patients with neuropsychomotor disorder and to compare to normoreactive individuals. Material and method: 120 individuals, 60 neuropsychomotor changes (study group) and 60 normorreatives (control group), of both sexes, from 2 to 15 years old, assisted in the Foundation of Support to the Disabled of the Government of the State of Paraíba. Data were collected through a structured questionnaire and clinical examination. Descriptive and inferential analysis (t-student test; Fisher's exact test) was performed, adopting a significance level of 5%. Result: The prevalence of dental trauma observed in patients with neuropsychomotor disorder was 20.0%, whereas in the control group it was 16.6% (p>0.05); in the control group the occurrence was higher in males. The groups differed according to the type of activity at the moment of the trauma (p<0.05) in relation to the etiology (p<0.05), and in relation to the place of occurrence (p<0.05). For both groups, the most affected teeth were the maxillary central incisors. Enamel fractures, followed by enamel and dentin fractures without pulp exposure were the most common lesions in both groups. Conclusion: The prevalence of dental trauma in individuals with neuropsychomotor alterations is similar to that of normorreative individuals, with a higher occurrence in females, in preteen phase, during routine activities.

Neuroimaging criteria and cognitive performance in vascular mild cognitive impairment: a systematic review / Critérios de neuroimagem e desempenho cognitivo no comprometimento cognitivo leve vascular: uma revisão sistemática

ABSTRACT The recognition of Cerebrovascular Disease (CVD) at earlier clinical stages may favor the control of vascular risk factors and prevention of dementia. However, operational criteria for symptomatic phases at non-dementia stages are often difficult, as the current criteria normally require the evidence of extensive subcortical disease. OBJECTIVE To identify the neuroimaging profile of Vascular Mild Cognitive Impairment (VaMCI), the impact of those aspects over cognition and the neuropsychological tests that distinguished VaMCI from other groups. METHODS Searches were performed in Scopus, ISI and PsycINFO, using the following key terms: "vascular mild cognitive impairment" OR "vascular cognitive impairment no dementia" OR "vascular cognitive impairment not demented" OR "subcortical mild cognitive impairment". RESULTS Of 249 papers, 20 studies were selected. Ten of those included only patients with severe White Matter Hyperintensities (WMH), whereas 10 others admitted subjects with moderate-to-severe WMH. Both groups showed poor performances in Executive Function (EF) tasks in comparison to normal controls and other diagnostic groups. Among EF tests, those assessing "complex" EF abilities consistently distinguished VaMCI from other groups, regardless of the severity of WMH. VaMCI subjects with severe or moderate-to-severe WMH showed cognitive deficits in comparison with other groups. "Complex" EF tests were the most useful in differentiating those patients from the other groups. CONCLUSION The occurrence of VaMCI may be associated with the presence of CVD at moderate levels; the detection of vascular damage at earlier stages may allow the adoption of therapeutic actions with significant effect-sizes.

RESUMO O reconhecimento precoce da Doença Cerebrovascular (DCV) pode permitir o controle de fatores de risco e a prevenção de demência. Contudo, critérios operacionais em seus estágios sintomáticos não-demenciais apresentam problemas, já que critérios atuais requerem a presença de extensa doença isquêmica subcortical. OBJETIVO Identificar o perfil de neuroimagem do Comprometimento Cognitivo Leve Vascular (CCLV), o impacto destes aspectos sobre a cognição e os testes neuropsicológicos que distinguem CCLV de outros grupos. MÉTODOS Foram realizadas buscas no Scopus, ISI e PsycINFO, usando a estratégia: "vascular mild cognitive impairment" OR "vascular cognitive impairment no dementia" OR "vascular cognitive impairment not demented" OR "subcortical mild cognitive impairment". RESULTADOS De 249 artigos, 20 foram selecionados. 10 destes incluíram apenas pacientes com hiperintensidades de substância branca (HSB) graves, enquanto 10 outros admitiram pacientes com HSB moderadas-a-graves. Ambos os grupos apresentaram desempenho pobre em tarefas de Função Executiva (FE) em comparação com controles normais e outras categorias diagnósticas. Dentre os testes de FE, aqueles que avaliam FE "complexas" diferiram consistentemente CCLV de outros grupos, independentemente da gravidade de HSB. Sujeitos com CCLV e HSB graves ou moderadas-a-graves apresentaram dificuldades cognitivas quando comparados aos demais grupos. Testes que avaliam FE "complexa" foram os mais úteis na diferenciação destes pacientes dos outros grupos. CONCLUSÃO A ocorrência de VaMCI pode estar associada à presença de HSB moderadas; a detecção precoce do dano vascular permitiria a adoção de medidas terapêuticas com tamanhos de efeito significativos.

Ressonância magnética funcional e deglutição: revisão sistemática / Functional magnetic resonance imaging and swallowing: systematic review

Objetivo Avaliar a viabilidade e segurança da ressonância magnética funcional para a avaliação de áreas corticais envolvidas na deglutição. Estratégia de pesquisa Conduziu-se uma busca entre abril de 2003 e abril de 2013, usando as palavras chave “functional magnetic resonance imaging” or “fMRI” and “dysphagia” e “functional magnetic resonance imaging” or “fMRI” and “swallowing” na base de dados PubMed. Critérios de seleção Os estudos foram revisados por análise de seus títulos e abstracts e os critérios de inclusão utilizados foram: pesquisas envolvendo seres humanos, utilização de exames neurofuncionais, referência à função de deglutição, análise de população adulta e/ou idosa, relação com patologias neurológicas. Resultados A estratégia de busca resultou em 1167 citações, das quais apenas 35 preencheram os critérios de elegibilidade. Conclusão A ressonância magnética funcional foi considerada segura e viável para a avaliação de áreas corticais envolvidas na deglutição. Entretanto, os relatos de utilização de ressonâcia magnética funcional diferiram entre os estudos revisados e houve variabilidade na metodologia utilizada, dificultando as comparações. .

Purpose Evaluate the feasibility and safety of functional magnetic resonance imaging (fMRI) for the evaluation of cortical areas involved in swallowing. Research strategy The search was conducted from April 2003 to April 2013, using the keywords “functional magnetic resonance imaging” or “fMRI” and “dysphagia” and “functional magnetic resonance imaging” or “fMRI” and “swallowing” in “PubMed” database. Selection criteria Studies were reviewed by analyzing their titles and abstracts with the following inclusion criteria: research involving human subjects, use of neurofunctional tests, reference to swallowing function, adult and/or elderly population analysis and association with neurological disorders. Results the search strategy resulted in 1167 citations, from which only 35 met the eligibility criteria. Conclusion the functional magnetic resonance imaging was considered safe and feasible for evaluating cortical areas involved in swallowing. However, the reports of functional magnetic resonance usage differed between the reviewed studies and the variability in the methodology used, made meaningful comparisons difficult. .