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Young children's linguistic and communicative abilities are foundational for their academic achievement and overall well-being. We present the positive outcomes of a brief tablet-based intervention aimed at teaching toddlers and preschoolers new word-object and letter-sound associations. We conducted two experiments, one involving toddlers ( ~ 24 months old, n = 101) and the other with preschoolers ( ~ 42 months old, n = 152). Using a pre-post equivalent group design, we measured the children's improvements in language and communication skills resulting from the intervention. Our results showed that the intervention benefited toddlers' verbal communication and preschoolers' speech comprehension. Additionally, it encouraged vocalizations in preschoolers and enhanced long-term memory for the associations taught in the study for all participants. In summary, our study demonstrates that the use of a ludic tablet-based intervention for teaching new vocabulary and pre-reading skills can improve young children's linguistic and communicative abilities, which are essential for future development.
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This study examined the agreement of perceived health-related quality of life (HRQOL) between caregivers and autistic children and adolescents (n = 133, 5-12 years) using the Pediatric Quality of Life Inventory Generic Core Scales, Fourth Edition (PedsQL 4.0). Results reveal good to excellent agreement over this age range across the total, physical, and psychosocial health scales. However, the emotional, social, and school functioning scores demonstrated lower agreement in dyads with children aged 5-7 than in dyads with children aged 8-12 years. Despite these differences in agreement, overall, the PedsQL 4.0 caregiver-module is a reliable instrument for measuring HRQOL in autistic individuals aged 5-12 years.
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Transtorno do Espectro Autista , Transtorno Autístico , Humanos , Adolescente , Qualidade de Vida/psicologia , Cuidadores , Emoções , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: To describe main motor disorders detected in children with autism spectrum disorder (ASD) and analyze associated clinical variables. PATIENTS AND METHOD: A cross-sectional observatio nal study of 96 children with ASD, median age 4 years (range, 3-9), 32.3% girls, and 18.8% preterm. Children were evaluated at the UC-CHRISTUS Clinical Hospital Neurodevelopmental Unit for three years. We analyzed the relationship between motor signs (stereotypies, delayed gait, and hypo/hyper tonia) and spoken language at 4 years of age. RESULTS: 63.5% of children presented a motor disorder, 33.3% had hand or body motor stereotypies at the time of the evaluation, and 28.1% had delayed gait (> 16 months of corrected gestational age). These children had a higher frequency of absence of spoken language at four years of age (OR = 9.36; 95% CI = 2.67-32.78) than patients without delayed gait. 40.6% of children presented alterations in muscle tone during the first two years of life (32.3% generalized hypotonia and 8.3% generalized hypertonia). A history of generalized hypotonia increases the chance of presenting delayed gait (OR = 2.65; 95% CI = 1.08-6.48) and motor stereo typies (OR = 2.63; 95% CI = 1.04-6.65). CONCLUSIONS: Children with ASD usually develop motor disorders that may precede the diagnosis of the condition. In ASD, infant hypotonia may predict the occurrence of other motor disorders, and delayed gait was associated with spoken language absence in preschool age.
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Transtorno do Espectro Autista , Transtornos Motores , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/diagnóstico , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Transtornos Motores/complicações , Hipotonia Muscular/complicaçõesRESUMO
Hypotonia of the newborn or infant is defined as decreased resistance to passive movement and is a frequent diagnostic challenge in pediatric practice. The hypotonic syndrome is a working diagnosis and its etiology must be identified to determine associated morbidities, prognosis, and management. Rapid advances in bioinformatics and molecular genetic testing allow for early accurate diagnoses in the diagnostic process. Therefore, it is necessary to carry out an updated review on this topic. The objective of this non-systematic narrative review is to describe the diagnostic approach to hypotonic syndrome and its main etiologies. A review of the literature from PubMed and Scielo databases was carried out, including relevant articles in English and Spanish published in the last 15 years. We emphasize the value of the clinical examination and history in locating the cause of hypotonia (cen tral or peripheral) as the first step toward the etiological diagnosis. Systemic diseases such as sepsis, hypoxic-ischemic encephalopathy, heart failure, and metabolic and electrolyte abnormalities are still common causes of central hypotonia. Peripheral hypotonia involves disorders of the anterior horn of the spinal cord, peripheral nerve, neuromuscular junction and muscle, of inherited and acquired origin. The use of images of the central nervous system and muscle and genetic panels and exome, constitute the most recent contributions to the diagnosis of hypotonic syndrome. This article propo ses an initial approach based on the main clinical clues leading to a certain diagnosis. Its therapy is supportive, except for some conditions that require specific treatment.
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Hipotonia Muscular , Recém-Nascido , Humanos , Lactente , Criança , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/etiologia , PrognósticoRESUMO
La Parálisis Facial (PF) es una condición infrecuente en pacientes pediátricos, representa un problema clínico relevante y conlleva diversas implicaciones. Tanto el curso natural como el tratamiento y pronóstico no se encuentran bien documentados en la literatura, más aún en sujetos sometidos a cirugía. Se presentan 2 casos de PF sometidos a cirugía reconstructiva, niño de 9 años y niña de 8, ambos casos revisados de forma retrospectiva. Se planteó un bordaje y evaluación kinésica estructurado como tratamiento para estos pacientes. El sistema de graduación facial Sunnybrook (SGFS) fue usado para evaluar resultados funcionales. Durante el seguimiento los sujetos mostraron mejoras continuas con una ganancia promedio de 30 puntos en el SGFS. En nuestra experiencia, la rehabilitación kinésica estructurada con el enfoque presentado, parece ser un coadyuvante efectivo en potenciar el proceso de recuperación de la función muscular y simetría facial en sujetos con PF sometidos a cirugía reconstructiva.
Facial Palsy (FP) is an uncommon condition in pediatric patients, it represents a serious linical problem and carries various implications. Both the natural course, as well as the treatment and prognosis are not well documented in the literature especially in subjects undergoing surgery. Two cases of FP undergoing reconstructive surgery are presented, a 9-year-old boy and an 8-year-old girl, both cases reviewed retrospectively. A structured kinesic approach and valuation was proposed as a treatment for these patients. The Sunnybrook Facial Grading System (SGFS) was applied to evaluate functional outcomes. During follow-up the subjects showed continuous improvement with an average increment of 30 points in the SGFS. In our experience, structured kinesic rehabilitation with the approach presented, seems to be an effective adjunct in enhancing the process of recovery of muscle function and facial symmetry in subjects with FP undergoing reconstructive surgery.
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Humanos , Masculino , Feminino , Criança , Período Pós-Operatório , Paralisia Facial/reabilitação , Modalidades de Fisioterapia , Procedimentos de Cirurgia Plástica , Recuperação de Função FisiológicaRESUMO
INTRODUCTION: Juvenile myasthenia gravis (JMG) is an autoimmune disease affecting the neuromuscular junction that appears before 19 years of age with varying degrees of weakness of different muscle groups. The main treatment is pharmacological, but thymectomy has also demonstrated to improve remission rates. OBJECTIVE: To describe the clinical characteristics and postoperative course of pediatric patients with JMG who underwent video-assisted thoracoscopic (VATS) thymectomy. Clinical Serie: Six pa tients who underwent VATS thymectomy between March 2011 and June 2019. The age range at diag nosis was between 2 and 14 years and the average age at surgery was 7 years. All patients were under treatment with pyridostigmine bromide associated with immunosuppression with corticosteroids before surgery. The interval between diagnosis and thymectomy was 21.5 months on average. VATS was performed by left approach, and there was no perioperative morbidity or mortality. The average hospital stay was 2 days. Three patients remain with no symptoms and without corticotherapy. Two patients were on corticosteroids, but in smaller doses than previous to surgery. One patient presented a crisis requiring hospitalization and ventilatory support during follow-up. CONCLUSION: VATS thy mectomy is part of the treatment for JMG. In this series, it appears as a safe approach and its results were favorable.
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Miastenia Gravis/cirurgia , Cirurgia Torácica Vídeoassistida , Timectomia/métodos , Adolescente , Corticosteroides/uso terapêutico , Criança , Pré-Escolar , Inibidores da Colinesterase/uso terapêutico , Feminino , Humanos , Tempo de Internação , Masculino , Miastenia Gravis/tratamento farmacológico , Período Pós-Operatório , Brometo de Piridostigmina/uso terapêutico , Resultado do TratamentoRESUMO
In this cross-sectional study, we aimed to evaluate the association between generalized hypotonia (GH) and demographic features and clinical characteristics in toddlers (2 to 5 years) with autism spectrum disorder (ASD). Among 93 children, 32 (34.4%) had GH. These patients had a later onset of independent walking (17 vs. 15 months, p < 0.01), a higher proportion of motor stereotypies (65.6 vs. 27.9%, p < 0.01), a lower mean total score in the parental-reported Generic Core Scale of Pediatric Quality of Life Inventory 4.0 (71 vs. 76 points, p 0.03), and a higher mean total score in the Calibrated Severity Score of Autism Diagnostic Observation Schedule version 2 at diagnosis (6 vs. 5 points, p 0.02) compared to the group without GH.Conclusion: Hypotonia is associated with other motor abnormalities and could be an early marker for higher autistic symptom severity and lower quality of life in young children with ASD. What is Known: ⢠Motor function is closely related to autism spectrum disorder (ASD) ⢠Muscle hypotonia is present in 15% to 67% of children with ASD What is New: ⢠Muscle hypotonia is associated with higher autistic symptom severity and lower quality of life in children with ASD ⢠Children with ASD and muscle hypotonia have more commonly motor stereotypies and a later onset of independent walking.
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Transtorno do Espectro Autista , Transtorno Autístico , Transtorno do Espectro Autista/complicações , Transtorno do Espectro Autista/diagnóstico , Pré-Escolar , Estudos Transversais , Humanos , Hipotonia Muscular/etiologia , Qualidade de VidaRESUMO
We conducted a cross-sectional study to explore whether clinical characteristics and autism diagnostic-traits severity are associated with caregiver-reported impairment of health-related quality of life (Pediatric Quality of Life Inventory Generic Core Scales, Fourth Edition) in 93 Chilean toddlers (age: 2-4 years) with autism spectrum disorder. Median total scale, physical health, and psychosocial health scores were 76 (IQR 70-81), 88 (IQR 81-94), and 71 (IQR 62-79), respectively. In multiple-regression analysis, diagnostic age (ß = 0.219; p 0.021) and Calibrated Severity Score of Autism Diagnostic Observation Schedule, second edition (ß = - 0.434; p < 0.001) were independently correlated to the total scale score. Lower age and higher autistic traits severity at diagnosis are correlated with worse well-being perception by caregivers.
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Transtorno do Espectro Autista , Transtorno Autístico , Transtorno do Espectro Autista/diagnóstico , Cuidadores , Pré-Escolar , Estudos Transversais , Humanos , Qualidade de VidaRESUMO
INTRODUCTION: Sciatic neuropathy is rare and difficult to diagnose in pediatrics, and its long-term course has not been completely understood. OBJECTIVE: To analyze the clinical presentation and evolution of a group of pediatric patients with sciatic neuropathy. PATIENTS AND METHOD: Retrospective anal ysis of the clinical characteristics of pediatric patients with sciatic neuropathy treated in two hospitals of Santiago between 2014 and 2018. Locomotor examination, muscle trophism, deep tendon reflexes, gait, sensation, and pain were assessed. Sciatic nerve conduction study and electromyography (EMG) were performed, and magnetic resonance imaging (MRI) in three patients. RESULTS: Six patients were included with an average age of 11.8 years. The etiologies were traumatic (N = 2), by compression (N = 2), vascular (N = 1), and tumor (N = 1). All of the 6 patients presented foot drop and Achilles tendon hyporeflexia/areflexia, and 5 patients presented severe neuropathic pain. The EMG showed involvement of the sciatic nerve rami and dependent muscles. In two patients, a pelvic girdle and lower limbs MRI was performed, showing selective muscle involvement in sciatic territory. One patient underwent a lumbosacral plexus MRI, and subsequently histological study showing a benign neural tumor. Out of the three patients who were followed-up longer than one year presented motor sequelae and gait disorder. CONCLUSION: Sciatic neuropathy in the study group was secondary to different causes, predominantly traumatic and compressive etiologies. The three patients that were ina long-term follow-up presented significant motor sequelae. In most of the cases, neural injury wasassoci- ated with preventable causes, such as accidents and positioning in unconscious children, which is crucial in the prevention of a pathology with a high sequelae degree.
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Neuropatia Ciática/diagnóstico , Adolescente , Criança , Pré-Escolar , Eletromiografia , Feminino , Seguimentos , Humanos , Imageamento por Ressonância Magnética , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Neuropatia Ciática/etiologia , Neuropatia Ciática/fisiopatologia , Neuropatia Ciática/terapiaRESUMO
Non-dystrophic myotonias are a group of rare neuromuscular diseases linked to SCN4A or CLCN1. Among the subtypes, myotonia permanens, associated with the Gly1306Glu variant of SCN4A, is a relatively less frequent but more severe form. Most reports of non-dystrophic myotonias describe European populations. Therefore, to expand the genetic and phenotypic spectrum of this disorder, we evaluated 30 Chilean patients with non-dystrophic myotonias for associated variants and clinical characteristics. SCN4A variants were observed in 28 (93%) of patients, including 25 (83%) with myotonia permanens due to the Gly1306Glu variant. Myotonia permanens was inherited in 24 (96%) patients; the mean age of onset was 6 months, and the initial symptoms were orbicularis oculi myotonia in 17 (74%) patients and larynx myotonia in 12 (52%) patients. The extraocular muscles were involved in 11 (44%) patients, upper limbs in 20 (80%), and lower limbs in 21 (84%). Thirteen (52%) patients experienced recurrent pain and 10 (40%) patients reported limitations in daily life activities. Carbamazepine reduced myotonia in eight treated patients. The high frequency of the Gly1306Glu variant in SCN4A in Chilean patients suggests a founder effect and expands its phenotypic spectrum.
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Miotonia/genética , Canal de Sódio Disparado por Voltagem NAV1.4/genética , Adolescente , Adulto , Criança , Chile , Estudos de Coortes , Feminino , Efeito Fundador , Humanos , Lactente , Masculino , Mutação , Transtornos Miotônicos/genética , Adulto JovemRESUMO
Resumen: Introducción: La neuropatía ciática es una entidad infrecuente y de difícil diagnóstico en Pediatría. Su evolución a largo plazo no ha sido claramente definida. Objetivo: Analizar la presentación clínica y evolución de un grupo de niños con neuropatía ciática. Pacientes y Método: Análisis retrospectivo de las características clínicas de pacientes pediátricos con neuropatía ciática atendidos en 2 hospitales de Santiago, entre 2014-2018. Se evaluó examen motor, trofismo muscular, reflejos osteotendíneos, marcha, sensibilidad y dolor. Se estudió neuroconducción de nervio ciático, electromiografía (EMG) y en 3 pacientes, Resonancia Magnética (RM). Resultados: Se incluyeron 6 pacientes, edad promedio 11,8 años. Hubo 2 causas traumáticas, 2 compresivas, 1 vascular y 1 tumoral. Los 6 pa cientes debutaron con pie caído e hiporreflexia/arreflexia aquiliana; 5 pacientes presentaron dolor neuropático severo. La EMG mostró en todos los casos compromiso en nervios y musculatura de pendientes del nervio ciático. En 2 casos se realizó RM de cintura pélvica y extremidades inferiores, mostrando compromiso muscular selectivo en pierna en territorio ciático. En 1 caso, se realizó RM de plexo lumbosacro, y luego estudio histológico, que concluyeron un tumor neural benigno. En los 3 pacientes que tuvieron seguimiento mayor a un año, se observaron secuelas motoras, con marcha alterada. Conclusión: La neuropatía ciática en este grupo fue secundaria a diversas etiologías, predominando las traumático-compresivas. En los 3 casos que tuvieron seguimiento a largo plazo se observaron secuelas motoras significativas. En la mayoría la lesión se asoció a causas prevenibles como accidentes y posicionamiento en niños con compromiso de conciencia, lo que resulta fundamental en la prevención de una patología con alto grado de secuelas.
Abstract: Introduction: Sciatic neuropathy is rare and difficult to diagnose in pediatrics, and its long-term course has not been completely understood. Objective: To analyze the clinical presentation and evolution of a group of pediatric patients with sciatic neuropathy. Patients and Method: Retrospective anal ysis of the clinical characteristics of pediatric patients with sciatic neuropathy treated in two hospitals of Santiago between 2014 and 2018. Locomotor examination, muscle trophism, deep tendon reflexes, gait, sensation, and pain were assessed. Sciatic nerve conduction study and electromyography (EMG) were performed, and magnetic resonance imaging (MRI) in three patients. Results: Six patients were included with an average age of 11.8 years. The etiologies were traumatic (N = 2), by compression (N = 2), vascular (N = 1), and tumor (N = 1). All of the 6 patients presented foot drop and Achilles tendon hyporeflexia/areflexia, and 5 patients presented severe neuropathic pain. The EMG showed involvement of the sciatic nerve rami and dependent muscles. In two patients, a pelvic girdle and lower limbs MRI was performed, showing selective muscle involvement in sciatic territory. One patient underwent a lumbosacral plexus MRI, and subsequently histological study showing a benign neural tumor. Out of the three patients who were followed-up longer than one year presented motor sequelae and gait disorder. Conclusion: Sciatic neuropathy in the study group was secondary to different causes, predominantly traumatic and compressive etiologies. The three patients that were ina long-term follow-up presented significant motor sequelae. In most of the cases, neural injury wasassoci- ated with preventable causes, such as accidents and positioning in unconscious children, which is crucial in the prevention of a pathology with a high sequelae degree.
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Humanos , Feminino , Pré-Escolar , Criança , Adolescente , Neuropatia Ciática/diagnóstico , Prognóstico , Imageamento por Ressonância Magnética , Estudos Retrospectivos , Fatores de Risco , Seguimentos , Neuropatia Ciática/etiologia , Neuropatia Ciática/fisiopatologia , Neuropatia Ciática/terapia , EletromiografiaRESUMO
Duchenne muscular dystrophy (DMD) and Spinal muscular atrophy (SMA) causes significant disability and progressive functional impairment. Readily available instruments that assess functionality, especially in advanced stages of the disease, are required to monitor the progress of the disease and the impact of therapeutic interventions. OBJECTIVE: To describe the development of a scale to evaluate upper limb function (UL) in patients with DMD and SMA, and describe its validation process, which includes self-training for evaluators. PATIENTS AND METHOD: The development of the scale included a review of published scales, an exploratory application of a pilot scale in healthy children and those with DMD, self-training of evaluators in applying the scale using a handbook and video tutorial, and assessment of a group of children with DMD and SMA using the final scale. Reliability was assessed using Cronbach and Kendall concordance and with intra and inter-rater test-retest, and validity with concordance and factorial analysis. RESULTS: A high level of reliability was observed, with high internal consistency (Cronbach a = 0.97), and inter-rater (Kendall W = 0.96) and intra-rater concordance (r = 0.97 to 0.99). The validity was demonstrated by the absence of significant differences between results by different evaluators with an expert evaluator (F = 0.023, p > .5), and by the factor analysis that showed that four factors account for 85.44% of total variance. CONCLUSIONS: This scale is a reliable and valid tool for assessing UL functionality in children with DMD and SMA. It is also easily implementable due to the possibility of self-training and the use of simple and inexpensive materials.
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Avaliação da Deficiência , Atrofia Muscular Espinal/fisiopatologia , Distrofia Muscular de Duchenne/fisiopatologia , Adolescente , Estudos de Casos e Controles , Criança , Pré-Escolar , Progressão da Doença , Análise Fatorial , Feminino , Humanos , Masculino , Variações Dependentes do Observador , Projetos Piloto , Reprodutibilidade dos Testes , Índice de Gravidade de Doença , Extremidade SuperiorRESUMO
This secondary analysis of a large (n = 241), randomized, double-blind study evaluated the efficacy of 2 doses of abobotulinumtoxinA + standard of care (SOC) versus placebo + SOC in enabling children with dynamic equinus due to cerebral palsy to achieve their functional goals using Goal Attainment Scaling. Most parents/caregivers selected goals targeting aspects of gait improvement as most relevant. Mean (95% confidence interval) Goal Attainment Scaling T scores at week 4 were higher for both abobotulinumtoxinA groups versus placebo (treatment difference vs placebo: 10 U/kg/leg: 5.32 [2.31, 8.32], P = .0006, and 15 U/kg/leg 4.65 [1.59, 7.71], P = .0031). Superiority of both abobotulinumtoxinA doses versus placebo was maintained at week 12. Best goal attainment T scores were higher in the abobotulinumtoxinA groups versus placebo for the common goals of improved walking pattern, decreased falling, decreased tripping, and improved endurance. These findings demonstrate that single injections of abobotulinumtoxinA (10 and 15 U/kg/leg) significantly improved the ability of pediatric cerebral palsy patients to achieve their functional goals.
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Toxinas Botulínicas Tipo A/uso terapêutico , Paralisia Cerebral/tratamento farmacológico , Pé Equino/tratamento farmacológico , Marcha/efeitos dos fármacos , Fármacos Neuromusculares/uso terapêutico , Adolescente , Toxinas Botulínicas Tipo A/farmacologia , Paralisia Cerebral/complicações , Criança , Pré-Escolar , Método Duplo-Cego , Pé Equino/etiologia , Feminino , Objetivos , Humanos , Masculino , Fármacos Neuromusculares/farmacologia , Resultado do TratamentoRESUMO
INTRODUCTION: In this study we aimed to determine the maximal isometric muscle strength of a healthy, normal-weight, pediatric population between 6 and 15 years of age using hand-held dynamometry to establish strength reference values. The secondary objective was determining the relationship between strength and anthropometric parameters. METHODS: Four hundred normal-weight Chilean children, split into 10 age groups, separated by 1-year intervals, were evaluated. Each age group included between 35 and 55 children. RESULTS: The strength values increased with increasing age and weight, with a correlation of 0.83 for age and 0.82 for weight. The results were similar to those reported in previous studies regarding the relationships among strength, age, and anthropometric parameters, but the reported strength differed. CONCLUSIONS: These results provide normal strength parameters for healthy and normal-weight Chilean children between 6 and 15 years of age and highlight the relevance of ethnicity in defining reference values for muscle strength in a pediatric population. Muscle Nerve 55: 16-22, 2017.
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Força da Mão/fisiologia , Contração Isométrica/fisiologia , Dinamômetro de Força Muscular , Força Muscular/fisiologia , Músculo Esquelético/fisiologia , Adolescente , Antropometria , Criança , Feminino , Humanos , Masculino , Valores de Referência , Reprodutibilidade dos TestesRESUMO
La distrofia muscular de Duchenne (DMD) y la Atrofia músculo espinal (AME) determinan discapacidad y compromiso funcional progresivo. Se requiere de instrumentos fácilmente disponibles, que evalúen la funcionalidad, especialmente en etapas avanzadas de la enfermedad, para monitorizar evolución e impacto de intervenciones terapéuticas. Objetivo: Reportar el desarrollo de escala para evaluar la función de las extremidades superiores (EESS) en pacientes con DMD y AME, y describir su proceso de validación que incluye autoentrenamiento para evaluadores. Pacientes y Método: El desarrollo de la escala incluyó revisión de escalas publicadas, aplicación exploratoria de escala inicial en niños sanos y con DMD, autoentrenamiento de evaluadores en aplicación de escala definitiva utilizando manual y vídeo tutorial y aplicación de escala en grupo de niños con DMD y AME. Se evaluó confiabilidad con coeficiente de Cronbach y de Kendall y concordancia con test-retest intra e inter-evaluadores, y validez con análisis de concordancia y factorial. Resultados: Se observó alto grado de confiabilidad, con alta consistencia interna (a de Cronbach = 0,97) y concordancia interevaluadores (W de Kendall = 0,96) e intraevaluadores (r = 0,97 a 0,99). La validez se demostró por la inexistencia de diferencias significativas entre resultados de distintos evaluadores con evaluador experto (F = 0,023, p > 0,5) y análisis factorial, que mostró que 4 factores explican el 85,44% de varianza total. Conclusiones: Esta escala de evaluación es un instrumento confiable y válido para evaluar la funcionalidad de EESS en niños con DMD y AME. Además, es de fácil implementación por la posibilidad de autoentrenamiento y el uso de materiales simples y de bajo costo.
Duchenne muscular dystrophy (DMD) and Spinal muscular atrophy (SMA) causes significant disability and progressive functional impairment. Readily available instruments that assess functionality, especially in advanced stages of the disease, are required to monitor the progress of the disease and the impact of therapeutic interventions. Objective: To describe the development of a scale to evaluate upper limb function (UL) in patients with DMD and SMA, and describe its validation process, which includes self-training for evaluators. Patients and Method: The development of the scale included a review of published scales, an exploratory application of a pilot scale in healthy children and those with DMD, self-training of evaluators in applying the scale using a handbook and video tutorial, and assessment of a group of children with DMD and SMA using the final scale. Reliability was assessed using Cronbach and Kendall concordance and with intra and inter-rater test-retest, and validity with concordance and factorial analysis. Results: A high level of reliability was observed, with high internal consistency (Cronbach a = 0.97), and inter-rater (Kendall W = 0.96) and intra-rater concordance (r = 0.97 to 0.99). The validity was demonstrated by the absence of significant differences between results by different evaluators with an expert evaluator (F = 0.023, p > .5), and by the factor analysis that showed that four factors account for 85.44% of total variance. Conclusions: This scale is a reliable and valid tool for assessing UL functionality in children with DMD and SMA. It is also easily implementable due to the possibility of self-training and the use of simple and inexpensive materials.
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Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Atrofia Muscular Espinal/fisiopatologia , Distrofia Muscular de Duchenne/fisiopatologia , Avaliação da Deficiência , Índice de Gravidade de Doença , Estudos de Casos e Controles , Variações Dependentes do Observador , Projetos Piloto , Reprodutibilidade dos Testes , Análise Fatorial , Progressão da Doença , Extremidade SuperiorAssuntos
Corticosteroides/uso terapêutico , Eritromelalgia/tratamento farmacológico , Eritromelalgia/genética , Hipertensão/complicações , Mutação/genética , Canal de Sódio Disparado por Voltagem NAV1.7/genética , Criança , Humanos , Hipertensão/genética , Masculino , Dor Musculoesquelética/etiologiaRESUMO
Disuse osteoporosis in children is a progressive disease that can affect quality of life. High-frequency, low-magnitude vibration (HFLMV) acts as an anabolic signal for bone and muscle. We undertook a prospective, randomized, double-blind, placebo-controlled clinical trial to assess the efficacy and safety of regional HFLMV in disabled children. Sixty-five children 6 to 9 year of age were randomized into three groups: placebo, 60 Hz, and 90 Hz. In the two active groups, a 0.3-g mechanical vibration was delivered to the radii and femurs for 5 minutes each day. After 6 months, the main endpoint was bone mineral density (BMD) at the ultradistal radius (UDR), 33% radii (33%R), and femoral necks (FN). Secondary endpoints were area and bone mineral content (BMC) at the UDR, 33%R, and FN; grip force of the upper and lower limbs; motor function; and PedsQL evaluation. An intention-to-treat analysis was used. Fifty-seven children (88%) completed the protocol. A significant increase was observed in the 60-Hz group relative to the other groups in BMD at the UDR (p = .011), in grip force of the upper limbs (p = .035), and in the "daily activities item" (p = .035). A mixed model to evaluate the response to intervention showed a stronger effect of 60 Hz on patients with cerebral palsy on the UDR and that between-subject variability significantly affected the response. There were no reported side effects of the intervention. This work provides evidence that regional HFLMV is an effective and safe strategy to improve bone mass, muscle strength, and possibly independence in children with motor disabilities.