Trajectories of motor function in children with Duchenne muscular dystrophy: A longitudinal study on a Colombian population.

Duchenne Muscular Dystrophy (DMD) is characterized by an initial increase in motor function followed by a plateau phase and then entering a phase of steady decline. However, motor evolution of DMD have not been evaluated in developing countries. Therefore, this study aims to evaluate the trajectory of motor function in a sample of Colombian children with DMD. We included 119 children with DMD aged 4.8-19.3 years (mean follow-up = 1.7 years). A linear mixed model was used with age as the time scale and adjusted for covariates using a stepwise regression. Participants showed a progressive decline in motor skills from the age of 5 years with a decrease in speed around the age of 11 years (p < 0.001). After age 11, the decline in motor function was observed to continue until age 20 but at a slower rate (ßAge = -9.64. and ßAge2 = 0.18, p < 0.001 for both). Educational inclusion, glucocorticoid treatment and the number of mutated exons were shown to be associated with the motor performance. These findings may indicate that the evolution of DMD maintains similar patterns between high income countries and the Colombian population. They allow us to adapt and develop treatments that impact the population with DMD in Colombia, based in international evidence.

Slowly progressive late-onset spinal muscular atrophy Finkel-type related to p.Pro56Ser VABP mutation in Colombia.

Late-onset spinal muscular atrophy associated with the VAPB gene is a slowly progressing, adult-onset, lower motor neuron disease with an autosomal dominant inheritance pattern. We present a male with progressive weakness beginning at age 44, predominantly in the proximal legs, fasciculations, and gait disturbance, with similar clinical syndrome in his mother. On physical examination, he presented weakness in 4 extremities, predominantly proximal, with atrophy and areflexia. The genetic study identified the c.166C > T mutation in the VAPB gene. The P56S mutation of the VAPB gene is associated with adult-onset spinal muscular atrophy and amyotrophic lateral sclerosis; It has been reported in different countries, although the prevalence is higher in Brazil, related to Portuguese migration. Clinically, the patients present with late-onset ALS or SMA. The disease usually onset in the fifth decade of life as progressive weakness, predominantly proximal in the lower extremities, without bulbar or respiratory involvement.

Congenital Muscular Dystrophy Due to Merosin Deficiency: Report of a New Mutation.

Congenital muscular dystrophy due to merosin deficiency is one of the most common congenital muscular dystrophies. It is characterized by a LAMA2 gene mutation and causes varied clinical symptoms depending on the type of presentation. In this case report, we identified the importance of the medical history and the autosomal recessive expression, which compromises the sequencing of the LAMA2 gene, with a mutation variant c. 1854_1861dup (p. Leu621Hisfs*7), in homozygosity not described so far. As well as the phenotypic characteristics of the evidenced mutation. A 13-year-old patient presented with a clinical history that began at 18 months of age. According to the mother, the patient had a delay in neurological development and could not walk since he was 7. In addition, contractures were observed in the lower extremity, elbows, and fingers of both hands. The patient also had scoliosis, bilateral hip dysplasia, and sleep apnea-hypopnea syndrome. However, cognitive function was unaffected. Extension studies revealed elevated creatine kinase levels, electromyography indicated muscle fiber involvement, and brain resonance imaging showed a hyperintense lesion at the periventricular level along with symmetrical supratentorial findings. Immunohistochemical studies of merosin showed incomplete reactivity and gene sequencing revealed evidence of a LAMA2 mutation: c. 1854_1861dup (p. Leu621Hisfs*7), in homozygosity. Congenital muscular dystrophy caused by merosin deficiency is characterized by the absence of laminin alpha-2. The clinical manifestation of this disease is a severe phenotype, mainly due to the early onset of the disease. In patients with mutations in the LAMA2 gene, the absence or partial reduction of laminin alpha-2 staining may allow some degree of ambulation, as it could indicate a partially functional protein. To complement clinical, immunohistochemical, and pathologic findings, ultrasound can be used as a potential tool for monitoring or assisting in the diagnosis of individuals with congenital muscular dystrophy. In this study, we performed sequencing of the LAMA2 gene, which revealed a homozygous c. 1854_1861dup (p. Leu621Hisfs*7) mutation. In addition, we describe the phenotypic features associated with this specific mutation.

Physical capacity tests as a complement in the evaluation of the level of disability in women with fibromyalgia: A cross-sectional study.

INTRODUCTION: The association between motor capacity and the level of disability in patients with fibromyalgia remains underexplored. This study aims to explore the association between physical capacity tests explored in the consultation and the level of disability in women with fibromyalgia. METHODS: There were 484 women diagnosed with fibromyalgia who were evaluated with 7 physical capacity tests: 10-m walk, 2-minute walk, 5-repetition getting up from a chair and sitting (G&S), 30-second chair stand, monopodal balance (right and left), and up-and-go. Functional performance was assessed with the Revised Fibromyalgia Impact Questionnaire (FIQR). Evaluation of the association between the physical capacity tests and the FIQR was initially performed using a principal component analysis (PCA). Subsequently, agglomerative hierarchical clustering (AHC) was performed in order to characterize groups of patients. RESULTS: Results show than FIQR and the tests 10-m walk, 2-minute walk, 5-repetition G&S, 30-second chair stand, and up-and-go test were correlated. The results of the AHC determined 3 groups of patients mainly on one motor dimension with significant differences in both the FIQR and the physical capacity tests retained in the PCA (P < 0.001 for all). CONCLUSION: The application of these physical tests is simple, fast and can be a complement to the FIQR questionnaire when determining the level of disability of patients with fibromyalgia, in addition to providing information on the evolution of the patients when these tests are administered in the clinical consultation.

Assessment of Manual Abilities Using the Box and Block Test in Children with Bilateral Cerebral Palsy.

Objective: The aim of this study was to determine the correlation between manual dexterity evaluated with the Box and Block Test (BBT) and the performance of daily activities in children with bilateral cerebral palsy (CP). Methods: The BBT was applied to 162 children with cerebral palsy of bilateral distribution aged 6 to 13 years. The level of performance was evaluated according to the Manual Ability Classification System (MACS), Gross Motor Function Classification System (GMFCS), and Pediatric Evaluation of Disability Inventory (PEDI) in the domains of self-care, mobility, and social function. Correlations between the findings of the BBT and the PEDI were determined, and additionally, some specific toileting tasks of the PEDI were evaluated. Results: The results of the BBT were lower in the lowest functional levels of the MACS (p ≤ 0.001). The BBT showed a strong correlation with the domains' self-care (r = 0.8), mobility (r = 0.7), and social function (r = 0.6) of the PEDI. The BBT was different between children who were able and children who were not able to perform the toileting tasks that were evaluated. A lower capacity in the BBT obtained in children with functional status GMFCS III, IV, and V was associated with poor performance in toileting tasks evaluated in the PEDI. Conclusion: The results of the BBT are correlated with the activities of daily living of children with bilateral CP. The data obtained from this test is used to predict the performance of daily activities of these patients in settings such as school and home and helps to identify contextual factors that influence the level of independence in children with bilateral CP.

Caracterización neurofisiológica de la función de fibra pequeña en mujeres heterocigotas con enfermedad de Fabry / Neurophysiologic characterization of small fiber function in heterozigous women with Fabry disease

RESUMEN INTRODUCCIÓN: La enfermedad de Fabry (EF) es una enfermedad genética, causada por el déficit de la enzima alfa galactosidasa A (α-Gal A), lo que provoca la acumulación de glicoesfingolípidos en los tejidos. Sus manifestaciones clínicas son variables. Estudios en mujeres heterocigotas reportan la existencia de dolor neuropático como manifestación de neuropatía de fibra pequeña. OBJETIVO: Determinar la presencia de neuropatía de fibra pequeña en mujeres heterocigotas para la EF, mediante la prueba cuantitativa sensorial. MATERIALES Y MÉTODOS: Se evaluaron 33 mujeres heterocigotas para EF y 33 mujeres sanas, con características demográficas similares. A todas se les aplicó la prueba cuantitativa sensorial (Quantitative Sensory Testing por medio de la detección de umbrales de frío (Colà Detection Threshold), calor (Warm Detection Threshold), dolor inducido por calor (Heat-pain Detection Thresholds) y vibración (Vibratory Detection Threshold) en los miembros superior e inferior, utilizando un sistema asistido por computador versión IV (CASE IV, WR Medical Electronics Co., Stillwater, MN). Adicionalmente, al grupo de mujeres heterocigotas para EF, se le evaluó la percepción subjetiva de dolor neuropàtico mediante el cuestionario de síntomas sensitivos neuropáticos positivos (Positive Neuropathic Sensory Symptom). Los resultados de la prueba cuantitativa sensorial se compararon entre los grupos. También se estableció la correlación entre la prueba cuantitativa sensorial y los resultados del cuestionario de síntomas sensitivos neuropáticos positivos. RESULTADOS: Se encontró una diferencia estadísticamente significativa en las pruebas de vibración (p = 0,008), calor (p = 0,017) y dolor inducido por calor (p = 0,04) en el miembro inferior en las mujeres heterocigotas para EF, comparado con el grupo control. Se encontró una correlación inversa estadísticamente significativa entre la intensidad del dolor quemante y el dolor inducido por calor en el miembro inferior (p = 0,018, r = -0,48) y entre la intensidad del dolor al ser rozado o tocado y el dolor inducido por calor en el miembro inferior (p = 0,006, r = -0,49). CONCLUSIÓN: En las mujeres heterocigotas para EF, las pruebas objetivas para establecer la presencia de neuropatía de fibra pequeña son anormales en miembros inferiores y se correlacionan con los síntomas sensitivos.

SUMMARY INTRODUCTION: Fabry disease is a genetic condition caused by alpha-galactosidase A deficiency triggering glycosphingolipid accumulation in tissues. Clinical manifestations are variable. Studies in heterozigous females report the existence of neuropathic pain as manifestation of small fiber neuropathy. OBJECTIVE: To determine presence of small fiber neuropathy in heterozigous females with Fabry disease through Quantitative Sensory Testing (QST). MATERIALS AND METHODS: 33 heterozigous females with fabry disease and 33 healthy females with similar demographic characteristics were evaluated. QST was performed to every female evaluating Cold detection Threshold (CDT), Warm Detection Threshold (WDT), Heat-pain Detection Threshold (HPDT) and Vibratory Detection Threshold (VDT) in upper and lower limbs through Computer Assisted Sensory Examination software (CASE IV, WR Medical Electronics Co., Stillwater, MN). Subjective perception of neuropathic pain was measured through Positive Neuropathic Sensory Symptom questionnaire (P-NSS) in heterozigous females with Fabry disease. QST results were compared between groups. Correlations between QST and P-NSS were established. RESULTS: Statistically significant differences were observed in VDT (p= 0,008), WDT (p= 0,017) and HPDT (p= 0,04) in lower limbs of heterozigous females with Fabry disease compared with control group. Negative correlation was found among burning pain intensity and HPDT at lower limbs (p= 0,018, r= -0,48) and among pain intensity to light touch and HPDT in lower limbs (p= 0,006, r=-0,49). CONCLUSIONS: Objective tests to establish presence of small fiber neuropathy in heterozigous females with Fabry disease are abnormal at lower limbs and correlate with sensory symptoms.

Measurement properties of the Boston Carpal Tunnel Questionnaire in subjects with neurophysiological confirmation of carpal tunnel syndrome: a Rasch analysis perspective.

PURPOSE: To perform a comprehensive psychometric analysis of the Boston Carpal Tunnel Syndrome Questionnaire (BCTQ) by means of factor and Rasch analyses in subjects with neurophysiologic confirmation of carpal tunnel syndrome (CTS). Relationship between clinical severity assessed with the log-linear version of the BCTQ and neurophysiologic severity assessed with nerve conduction studies was further examined. METHODS: Five hundred and twenty-eight individuals completed the questionnaire. Confirmatory and exploratory factor analyses were used to determine the latent structure of the BCTQ. Through Rasch methodology, a log-linear version was proposed given the latent structure of the questionnaire. Linear relationship between the proposed questionnaire and neurophysiologic findings was established. RESULTS: The BCTQ underlying structure comprises, at least, three factors that may be represented by Functionality, Paresthesia and Pain domains. Two log-linear subscales may be proposed: subscale 1 comprised of the Functionality factor and subscale 2 which incorporates the Paresthesia and Pain factors under a bifactor solution. Neurophysiologic and clinical severity classification system displays a very weak linear correlation. CONCLUSION: A log-linear version of the BCTQ, useful as an outcome tool in clinical and trial settings, is proposed. Neurophysiological data lack the ability to resemble changes in clinical status of individuals with CTS.

Correlation Nerve Conduction Studies with Findings of the Ultrasound of the Median Nerve in Patients with Carpal Tunnel Syndrome.

BACKGROUND: Ultrasonography is a diagnostic resource that serves as a complement in the evaluation of patients with carpal tunnel syndrome. The correlation of ultrasonography findings with nerve conduction studies can serve to classify new phenotypes and to evaluate therapeutic responses. OBJECTIVES: To determine the diagnostic sensitivity of ultrasound, the correlation between the diameter of the nerve (CSA) against the motor and sensitive latencies, and the capacity to differentiate the mild, moderate and severe degrees of the electrophysiological classification of carpal tunnel syndrome. METHODS: A cross-sectional study with prospective data collection was carried out. An ultrasonography system with a 15 MHz transducer was used. Nerve conduction studies of the median nerve were performed with conventional techniques. Data from the most symptomatic hand were used. Determination of the correlations of nerve diameter with motor and sensitive latencies of the median nerve was performed in four age groups: <40(n=11), 40-54 (n=47), 55-70 (n=42) y >70(n=27). RESULTS: A total of 127 patients were evaluated (average age = 58.2 years: minimum = 26; maximum = 85; SD = 13.4); 109 (85.8%) were female patients. According to the electrophysiological classification, 40 (31.5%) were mild ; 60 (47.2%) were moderate ; and 27 (21.3%) were severe . Significant differences in the area of the median nerve were found between the electrophysiological types (mild, moderate and severe; p = 0.000). The diagnostic sensitivity of ultrasonography differed for each age group. In general, the diagnostic sensitivity was high in patients with severe cases and low for mild cases. The capacity for ultrasonography to classify the degrees of electrophysiological severity was different for each age group. For patients above 70 years and in the age group of 40 to 54 years, the CSA did not differentiate the electrophysiologically moderate cases from the severe ones. CONCLUSION: There is a well-defined and significant correlation between nerve conduction studies and median nerve diameter in patients with Carpal Tunnel Syndrome. However, it shows that the exclusive use of the ultrasonographic measurement of the cross-sectional area through the inlet of the carpal tunnel would not be enough to confirm or rule out an entrapment of the median nerve through the carpal tunnel, nor to predict in every case their electrophysiological severity.

El límite de disfagia como prueba electromiográfica de detección del trastorno de deglución / Dysphagia limit as electromyographic test to detect swallowing disorders

Objetivo. Determinar la utilidad de la prueba electromiográfica conocida como 'límite de disfagia' en una cohorte de individuos con trastorno de deglución. Materiales y métodos. Se evaluaron 32 individuos sanos y 32 individuos con trastorno de deglución detectado mediante el cuestionario autosuministrado EAT-10 (Eating Assessment Tool-10), versión traducida y validada al español para Colombia. A todos los individuos se les aplicó la prueba límite de disfagia como método cuantitativo y no invasivo para evaluar la deglución mediante electromiografía de superficie con electrodos ubicados en el músculo submentalis y en el espacio cricotiroideo, utilizando un equipo de dos canales Cadwell Summit Sierra®. Se suministró agua cuyo volumen aumentó gradualmente: 5, 10, 15, 20 y 25 ml. Todos los sujetos fueron instruidos para deglutir el volumen total suministrado en un solo trago. Se determinó el número de pasos o bursts que requirió el individuo para ingerir todo el volumen de líquido. Los resultados de la prueba límite de disfagia se compararon entre los grupos. Se estableció correlación entre el EAT-10 y la prueba límite de disfagia. Se calculó la exactitud diagnóstica de la prueba límite de disfagia en cuanto sensibilidad, especificidad, valores predictivos, proporción de falsos positivos y fasos negativos. Resultados. Se encontró una buena exactitud diagnóstica de la prueba límite de disfagia para detectar trastorno de deglución. Se constató una correlación significativa entre el puntaje de la escala EAT-10 y el resultado de la prueba electrofisiológica límite de disfagia. Conclusión. Este estudio muestra que la prueba límite de disfagia tiene un buen rendimiento diagnóstico para detectar trastorno de deglución

Objective. To determine the usefulness of the electromyographic test known as the 'dysphagia borderline' in a cohort of individuals with swallowing disorder. Materials and methods. Thirty-two healthy individuals and 32 individuals with swallowing disorder detected by means of the self-supplied questionnaire EAT-10 (Eating Assessment Tool-10), a version translated and validated in Spanish for Colombia, were evaluated. All individuals underwent the dysphagia borderline test as a quantitative and non-invasive method to evaluate swallowing by means of surface electromyography with electrodes located in the submentalis muscle and in the cricothyroid space, using a two-channel Cadwell Summit Sierra® equipment. Water was supplied with gradually increasing volume: 5, 10, 15, 15, 20 and 25 ml. All subjects were instructed to swallow the total volume supplied in one gulp. The number of steps or bursts required by the individual to swallow the entire volume of liquid was determined. The results of the borderline dysphagia test were compared between groups. Correlations were established between the EAT-10 and the borderline dysphagia test. The diagnostic accuracy of the borderline dysphagia test was calculated in terms of sensitivity, specificity, predictive values, false-positive and false-negative rates. Results. A good diagnostic accuracy of the borderline dysphagia test for detecting swallowing disorder was found. A significant correlation was found between the EAT-10 scale score and the result of the electrophysiological borderline dysphagia test. Conclusion. This study shows that the borderline dysphagia test has a good diagnostic performance to detect swallowing disorder.

Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature Review.

Hyperkalemic periodic paralysis is a rare musculoskeletal disorder characterized by episodic muscle weakness associated with hyperkalemia. It is a channelopathy associated with point mutations in the SCNA4 gene, with an autosomal dominant pattern of inheritance. We report the case of a 39-year-old patient with a picture with onset at six years of age, consisting of episodes of weakness caused by physical activity and intercurrent infectious processes, in whom a point mutation was found in the SCNA4 gene, not previously reported in the literature.

Functional assessment using short tests in a patient with pompe disease receiving enzyme replacement therapy: case report

ABSTRACT Introduction: Pompe disease is characterized by the deficiency of the acid alfa glucosidase enzyme, which leads to a glycogen accumulation mainly in cardiac and skeletal muscles. Its onset may be early or late; the late form is more difficult to handle given the variety of presentations. Enzyme replacement therapy has shown to improve gross motor function and lung function in patients. Case description: Female patient who presented chronic quadriparesis. She was diagnosed with Pompe disease, which required enzyme replacement therapy that helped improve the symptoms, which was evident with the performance of rapid functional evaluation tests. Discussion: Enzyme replacement therapy in Pompe disease modifies the natural history of the disease. A brief review of the literature about the functional tests that can be used to assess a patient with this disorder is presented. Conclusion: The 10-meter walk test, one-leg stance test, cervical flexion in supine position, five times sit to stand test, and coin rotation task are useful for clinical evaluation in patients with Pompe disease receiving enzyme replacement therapy.

RESUMEN Introducción. La enfermedad de Pompe se caracteriza por una alteración de la enzima alfa glucosidasa ácida lisosomal que produce acumulación de glicógeno, principalmente en el músculo esquelético y cardiaco. Se presentan formas de inicio temprano y tardío, esta última de más difícil manejo dada la múltiple variedad de presentaciones. La terapia de reemplazo enzimático ha demostrado mejorar la función motora gruesa y pulmonar de los pacientes con esta patología. Presentación del caso. Paciente femenino quien presentó cuadro crónico de cuadriparesia y a quien se le documentó enfermedad de Pompe, por lo que requirió terapia de reemplazo enzimático con mejoría franca de sintomatología, objetivizada con la realización de pruebas rápidas de evaluación funcional. Discusión. La terapia de reemplazo enzimático en la enfermedad de Pompe modifica la historia natural de la enfermedad. Se realiza una breve revisión de la literatura acerca de las pruebas funcionales que pueden ser utilizadas dentro de la evaluación del paciente con este trastorno. Conclusiones. La prueba de caminata de 10m, de equilibrio monopodal, de flexión cervical en supino, de levantarse-sentarse cinco veces y de la moneda resultan útiles para la evaluación clínica de los pacientes con enfermedad de Pompe en terapia de remplazo enzimático.

Correlación de pruebas funcionales con la escala Scopa-Motor para evaluar la función motora de pacientes con enfermedad de Parkinson / Correlation of functional tests with the SCOPA-Motor scale to evaluate the motor function of Parkinson's disease patients

RESUMEN INTRODUCCIÓN: La enfermedad de Parkinson (EP) es la segunda patología degenerativa más prevalente. Es importante establecer la utilidad de pruebas funcionales para evaluar objetivamente la función motora en la consulta médica del paciente con EP MATERIALES Y MÉTODOS: Se realizó un estudio descriptivo analítico de corte trasversal, en el que se establecieron correlaciones entre la escala Scopa-Motor y los resultados de la prueba de rotación de la moneda, el Up and Go test y el giro de 360° en pacientes con EP. Se utilizó un análisis no paramétrico con la aplicación del coeficiente de correlación de Spearman. RESULTADOS: En total se evaluaron 16 pacientes. La correlación más fuerte se encontró entre el giro de 360° y dominio de las actividades de la vida diaria (AVD) (r = 0,768, p < 0,01). Las otras variables presentaron una relación más modesta pero estadísticamente significativa, lo que sugiere la utilidad de estas pruebas para una valoración objetiva de los pacientes con EP. CONCLUSIÓN: Este estudio sugiere que el giro de 360°, el Up and Go test y la rotación de la moneda son pruebas válidas para evaluar a los paciente con EP de forma objetiva y cuantitativa sin requerir de la Scopa-Motor en la consulta médica cotidiana.

SUMMARY INTRODUCTION: Parkinson disease (PD) is the second most prevalent neurodegenerative disorder. Establishing the usefulness of functional tests in order evaluate motor function in the clinical setting is essential. MATERIALS AND METHOD: This is a descriptive analytical cross-section study, which correlates the SCOPA-Motor scale with results of the rotation coin test, the Up and Go test and the 360 degrees turn test in patients with PD. A non-parametric analysis was performed, using Spearman correlation coefficient. RESULTS: Sixteen patients were evaluated. The highest correlation was found between the 360 degrees turn and activities of daily living domain (r = 0.768, P <0.01). Other variables had a moderate but statistically significant correlation. This means that these tests can be used as objective evaluation of patients with PD. CONCLUSION: This study suggests that the 360 degrees turn test, Up and Go test and coin rotation test are validated tests to evaluate Parkinson's Disease patients in an objective and quantitative way without using SCOPA-Motor during a routine medical follow up.

Confiabilidad de los estudios de neuroconducción en el síndrome de túnel carpiano / Reliability of neuroconduction studies in carpal tunnel syndrome

RESUMEN Objetivo Determinar la confiabilidad entre dos observadores y el cambio mínimo detectable de los estudios de neuroconducción para diagnosticar el síndrome de túnel carpiano. Métodos Se estudiaron 69 pacientes remitidos para estudio electrofisiológico por sospecha de síndrome de túnel carpiano. A los pacientes, se les realizaron dos exámenes, dos días diferentes, por dos evaluadores. Se evaluaron las latencias sensitivas y motoras de los nervios mediano y cubital; todos fueron clasificados como negativos, incipientes, leves, moderados, severos o extremos. Se calculó la variación relativa entre ensayos, el coeficiente de correlación intraclase, el índice de kappa, el límite de acuerdo y el cambio mínimo detectable. Resultados La variación relativa entre ensayos de la latencia motora del nervio mediano fue de -6,8 % a 15,9 % con coeficiente de correlación intraclase de 0,98 para la diferencia con la latencia del nervio cubital. El cambio mínimo detectable fue de 0,4ms. La variación relativa entre ensayos de la latencia sensitiva del nervio mediano fue -5,0 % a 11 % con coeficiente de correlación intraclase de 0,95 para la diferencia con el nervio cubital. El cambio mínimo detectable fue de 0,2ms. La clasificación ele trofisiológica coincidió en 93 % de los casos, índice de kappa de 0,89. Conclusiones Las latencias sensitivas y motoras del nervio mediano así como la diferencia de estas con el nervio cubital son medidas confiables. El cambio mínimo detectable obtenido en nuestro estudio le sirve al clínico para establecer si los cambios de las latencias en estudios consecutivos o después del tratamiento son significativos.(AU)

ABSTRACT Objective To determine the reliability of neuroconduction studies by comparing two observers and detecting minimum changes when diagnosing carpal tunnel syndrome. Methods Sixty-nine patients referred for electrophysiological study due to suspected carpal tunnel syndrome were studied. The patients underwent two examinations, performed by two evaluators, on two different days. Sensory and motor latencies of the median and ulnar nerves were evaluated; all were classified as negative, incipient, mild, moderate, severe or extreme. Relative interval variation, intraclass correlation coefficient, kappa index, limit of agreement and minimum detectable change were estimated. Results The relative variation of motor nerve latency of the median nerve was -6.8% to 15.9%, with intraclass correlation coefficient of 0.98 for the difference of median-ulnar nerve latency. The minimum detected change was 0.4ms, while the relative interval variation of sensory latency of the median nerve was -5.0% to 11%, with intraclass correlation coefficient of 0.95 for difference with the ulnar nerve. The minimum detectable change was 0.2ms. Electrophysiological classification agreed in 93% of the cases, with a kappa index of 0.89. Conclusions Sensory and motor latencies of the median nerve, as well as the difference between them and the ulnar nerve, are reliable measures. The minimum detectable change obtained in our study helps clinicians to establish whether changes in latencies in consecutive or post-treatment studies are significant.(AU)

Percepción del médico y la familia de los resultados de las cirugías ortopédicas múltiples en niños con parálisis cerebral / Physician and family perception of the results of multiple orthopedic surgeries in children with cerebral palsy

RESUMEN Objetivo Comparar la percepción del médico y la familia sobre los resultados de las cirugías múltiples de miembros inferiores para mejorar la marcha, en niños con parálisis cerebral. Métodos Se realizó una evaluación de los registros médicos y de los videos pre y postoperatorios de niños atendidos en el laboratorio de marcha. Se evaluó el resultado del tratamiento quirúrgico mediante la aplicación de la escala del puntaje del médico, la escala de evaluación funcional de Gillette (FAQ) y los cuestionarios de percepción de los resultados desde la perspectiva de la familia. Resultados Se evaluaron 243 pacientes. De acuerdo al cuestionario de evaluación funcional, 45 casos empeoraron, 103 mejoraron y 95 casos no cambiaron (p<0,001). De acuerdo a la escala del puntaje del médico se encontró que la marcha empeoró en 13 casos, mejoró en 210 y siguió igual en 20. La percepción de la familia sobre el resultado del tratamiento fue favorable. Se encontró una correlación débil pero significativa entre el cambio del puntaje promedio del médico y la satisfacción de la familia (r=0,15; p=0,016) y entre la percepción global del médico y la percepción de la familia (r=1,5; p=0,015). Conclusiones Los resultados del tratamiento quirúrgico fueron favorables tanto para el médico como para la familia. Aunque la mayoría de casos conservaron su nivel funcional según el sistema de clasificación de la función motora gruesa (GMFCS), una proporción significativa de pacientes mejoraron según el cuestionario de evaluación funcional de Gillette (FAQ).(AU)

ABSTRACT Objective To compare the perception of physicians and families regarding the results of multilevel orthopedic surgery of the lower limbs to improve gait in children with cerebral palsy. Methods An evaluation of medical records and pre- and postoperative videos of children attended in the walking laboratory was carried out. The outcome of the surgical treatment was evaluated by applying not only the physician rating scale, but also the Gillette functional assessment questionnaire (FAQ), as well as perception questionnaires to assess the relatives' perspective. Results 243 patients were evaluated. According to the functional evaluation questionnaire, 45 cases worsened, 103 improved and 95 remained stable (p<0.001). The physician rating scale showed that gait got worse in 13 cases, improved in 210 and was the same in 20. The overall perception of the treatment outcome was favorable among relatives. A weak but significant correlation between the change in the physician's average score and family satisfaction (r=0.15; p=0.016) was found, as well as between the physician's overall perception and the family's perception (r=1, 5; p=0.015). Conclusions The results of the surgical treatment were favorable for both the physician and the family. Although most cases retained functional status according to the gross motor function classification system (GMFCS), a significant proportion of patients improved according to the Gillette functional assessment questionnaire (FAQ).(AU)

Reliability of home-based, motor function measure in hereditary neuromuscular diseases.

Objective To evaluate the reliability of the motor function measure (MFM) scale in the assessment of disease severity and progression when administered at home and clinic and assess its correlation with the Paediatric Outcomes Data Collection Instrument (PODCI). Methods In this prospective study, two assessors rated children with hereditary neuromuscular diseases (HNMDs) using the MFM at the clinic and then 2 weeks later at the patients' home. Intraclass correlation coefficient (ICC) was calculated for the reliability of the MFM and its domains. The reliability of each item was assessed and the correlation between MFM and three domains of PODCI was evaluated. Results A total of 48 children (5-17 years of age) were assessed in both locations and the MFM scale demonstrated excellent inter-rater reliability (ICC, 0.98). Weighted kappa ranged from excellent to poor. Correlation of the home-based MFM with the PODCI domain 'basic mobility and transfers' was excellent, with the 'upper extremity' domain was moderate, but there was no correlation with the 'happiness' domain. Conclusion The MFM is a reliable tool for assessing patients with HNMD when used in a home-based setting.

[Reliability of neuroconduction studies in carpal tunnel syndrome]. / Confiabilidad de los estudios de neuroconducción en el síndrome de túnel carpiano.

OBJECTIVE: To determine the reliability of neuroconduction studies by comparing two observers and detecting minimum changes when diagnosing carpal tunnel syndrome. METHODS: Sixty-nine patients referred for electrophysiological study due to suspected carpal tunnel syndrome were studied. The patients underwent two examinations, performed by two evaluators, on two different days. Sensory and motor latencies of the median and ulnar nerves were evaluated; all were classified as negative, incipient, mild, moderate, severe or extreme. Relative interval variation, intraclass correlation coefficient, kappa index, limit of agreement and minimum detectable change were estimated. RESULTS: The relative variation of motor nerve latency of the median nerve was -6.8% to 15.9%, with intraclass correlation coefficient of 0.98 for the difference of median-ulnar nerve latency. The minimum detected change was 0.4ms, while the relative interval variation of sensory latency of the median nerve was -5.0% to 11%, with intraclass correlation coefficient of 0.95 for difference with the ulnar nerve. The minimum detectable change was 0.2ms. Electrophysiological classification agreed in 93% of the cases, with a kappa index of 0.89. CONCLUSIONS: Sensory and motor latencies of the median nerve, as well as the difference between them and the ulnar nerve, are reliable measures. The minimum detectable change obtained in our study helps clinicians to establish whether changes in latencies in consecutive or post-treatment studies are significant.

OBJETIVO: Determinar la confiabilidad entre dos observadores y el cambio mínimo detectable de los estudios de neuroconducción para diagnosticar el síndrome de túnel carpiano. MÉTODOS: Se estudiaron 69 pacientes remitidos para estudio electrofisiológico por sospecha de síndrome de túnel carpiano. A los pacientes, se les realizaron dos exámenes, dos días diferentes, por dos evaluadores. Se evaluaron las latencias sensitivas y motoras de los nervios mediano y cubital; todos fueron clasificados como negativos, incipientes, leves, moderados, severos o extremos. Se calculó la variación relativa entre ensayos, el coeficiente de correlación intraclase, el índice de kappa, el límite de acuerdo y el cambio mínimo detectable. RESULTADOS: La variación relativa entre ensayos de la latencia motora del nervio mediano fue de -6,8 % a 15,9 % con coeficiente de correlación intraclase de 0,98 para la diferencia con la latencia del nervio cubital. El cambio mínimo detectable fue de 0,4ms. La variación relativa entre ensayos de la latencia sensitiva del nervio mediano fue -5,0 % a 11 % con coeficiente de correlación intraclase de 0,95 para la diferencia con el nervio cubital. El cambio mínimo detectable fue de 0,2ms. La clasificación ele trofisiológica coincidió en 93 % de los casos, índice de kappa de 0,89. CONCLUSIONES: Las latencias sensitivas y motoras del nervio mediano así como la diferencia de estas con el nervio cubital son medidas confiables. El cambio mínimo detectable obtenido en nuestro estudio le sirve al clínico para establecer si los cambios de las latencias en estudios consecutivos o después del tratamiento son significativos.

[Physician and family perception of the results of multiple orthopedic surgeries in children with cerebral palsy]. / Percepción del médico y la familia de los resultados de las cirugías ortopédicas múltiples en niños con parálisis cerebral.

OBJECTIVE: To compare the perception of physicians and families regarding the results of multilevel orthopedic surgery of the lower limbs to improve gait in children with cerebral palsy. METHODS: An evaluation of medical records and pre- and postoperative videos of children attended in the walking laboratory was carried out. The outcome of the surgical treatment was evaluated by applying not only the physician rating scale, but also the Gillette functional assessment questionnaire (FAQ), as well as perception questionnaires to assess the relatives' perspective. RESULTS: 243 patients were evaluated. According to the functional evaluation questionnaire, 45 cases worsened, 103 improved and 95 remained stable (p<0.001). The physician rating scale showed that gait got worse in 13 cases, improved in 210 and was the same in 20. The overall perception of the treatment outcome was favorable among relatives. A weak but significant correlation between the change in the physician's average score and family satisfaction (r=0.15; p=0.016) was found, as well as between the physician's overall perception and the family's perception (r=1, 5; p=0.015). CONCLUSIONS: The results of the surgical treatment were favorable for both the physician and the family. Although most cases retained functional status according to the gross motor function classification system (GMFCS), a significant proportion of patients improved according to the Gillette functional assessment questionnaire (FAQ).

OBJETIVO: Comparar la percepción del médico y la familia sobre los resultados de las cirugías múltiples de miembros inferiores para mejorar la marcha, en niños con parálisis cerebral. MÉTODOS: Se realizó una evaluación de los registros médicos y de los videos pre y postoperatorios de niños atendidos en el laboratorio de marcha. Se evaluó el resultado del tratamiento quirúrgico mediante la aplicación de la escala del puntaje del médico, la escala de evaluación funcional de Gillette (FAQ) y los cuestionarios de percepción de los resultados desde la perspectiva de la familia. RESULTADOS: Se evaluaron 243 pacientes. De acuerdo al cuestionario de evaluación funcional, 45 casos empeoraron, 103 mejoraron y 95 casos no cambiaron (p<0,001). De acuerdo a la escala del puntaje del médico se encontró que la marcha empeoró en 13 casos, mejoró en 210 y siguió igual en 20. La percepción de la familia sobre el resultado del tratamiento fue favorable. Se encontró una correlación débil pero significativa entre el cambio del puntaje promedio del médico y la satisfacción de la familia (r=0,15; p=0,016) y entre la percepción global del médico y la percepción de la familia (r=1,5; p=0,015). CONCLUSIONES: Los resultados del tratamiento quirúrgico fueron favorables tanto para el médico como para la familia. Aunque la mayoría de casos conservaron su nivel funcional según el sistema de clasificación de la función motora gruesa (GMFCS), una proporción significativa de pacientes mejoraron según el cuestionario de evaluación funcional de Gillette (FAQ).

Cambios en la recuperación de la función motora en pacientes con accidente cerebrovascular crónico / Mudanças na recuperação da função motora em pacientes com acidente cerebrovascular crônico / Changes of motor recovery in chronic stroke patients

Pocos estudios han analizado el curso de la recuperación motora durante la fase crónica del accidente cerebrovascular (ACV). Objetivo: determinar los cambios en la recuperación de la función motora en pacientes con ACV crónico. Materiales y métodos: estudio retrospectivo-descriptivo en 47 pacientes con secuelas motoras de ACV, con evolución mayor de 6 meses (promedio: 8 meses). Se analizaron los cambios funcionales entre dos registros consecutivos (tiempo promedio entre evaluaciones: 6 meses) en las escalas de Fugl-Meyer (FM), Prueba de caja y cubos, PASS, Rankin modificada, Índice de Barthel, Índice Funcional Compuesto y Ashworth modificada. Resultados: todo el grupo mostró cambios significativos hacia la recuperación funcional en todas las escalas (p < 0,01), a excepción del FM del miembro inferior. No obstante, los tamaños del efecto fueron pequeños. En los pacientes con evolución mayor de 12 meses disminuyeron el tamaño de los efectos y la significancia estadística. Conclusión: después de 6 meses de evolución, los pacientes con secuelas motoras por ACV muestran pequeños cambios hacia la recuperación funcional, que son estadísticamente significativos hasta 12 meses...

Few studies have evaluated changes in motor recovery during the chronic phase of stroke. Objective: To determine changes in motor function in chronic stroke survivors. Materials and methods: A retrospective-descriptive analysis was done of the records of 47 patients with motor sequelae of stroke with clinical evolution longer tan 6 months (average: 8 months). Functional changes obtained between two consecutive records (average time between assessments: 6 months) in scores of Fugl-Meyer Motor Scale (FM), Box and Block Test, PASS, Modified Rankin Scale (MRS), Barthel Index, Composite Functional Index, Modified Ashworth Scale were analyzed. Results: The whole group had significant changes toward functional motor recovery in all scales (p < 0.01), except for the FM in the lower limb. However, the sizes of the effect were small. In patients with evolution longer than 12 months, both the size of effectsand statistical significance diminished. Conclusion: After six months of evolution, patients with motor sequelae of CVA show small changes toward functional motor recovery, which are statistically significant until twelve months...

Poucos estudos analisaram o curso da recuperação motora durante a fase crônica do acidente cerebrovascular (ACV). Objetivo: determinar as mudanças na recuperação da função motora em pacientes com ACV crônico. Materiais e métodos: estudo retrospectivo-descritivo em 47 pacientes com sequelas motoras de ACV, com evolução maior de 6 meses (média: 8 meses). Analisaram-se as mudanças funcionais entre dois registos consecutivos (tempo médio entre avaliações: 6 meses) nas escalas de Fugl-Meyer (FM), Prova de caixa e cubos, PASS, Rankin modificada, Índice de Barthel, Índice Funcional Composto e Ashworth modificada. Resultados: todo o grupo mostrou mudanças significativas para a recuperação funcional em todas as escalas (p < 0,01), a exceção do FM do membro inferior. Não obstante, os tamanhos do efeito foram pequenos. Nos pacientes com evolução maior de 12 meses diminuíram o tamanho dos efeitos e a significância estatística. Conclusão: depois de 6 meses de evolução, os pacientes com sequelas motoras por ACV mostram pequeñas mudanças para a recuperação funcional, que são estatisticamente significativos até 12 meses...

Validación de un instrumento para evaluar la carga del cuidador en parálisis cerebral / Validation of an instrument to assess caregiver burden in cerebral palsy cases

Objetivo Desarrollar y validar una escala para evaluar la carga del cuidador del niño con parálisis cerebral (PC) de niveles funcionales GMFCS (Gross Motor Function Classification System) IV y V. Materiales y Métodos Se llevó a cabo un estudio de validación de escalas mediante la aplicación de un cuestionario a 108 cuidadores de niños con PC. La primera fase del estudio consistió en la generación del cuestionario y la realización de una prueba piloto. La segunda fase comprendió la aplicación de la escala. Finalmente, la tercera fase correspondió al análisis psicométrico (validez de constructo y de criterio, consistencia interna, y confiabilidad temporal) y a la determinación de la utilidad de la escala. Para el test-retest se repitió la encuesta a 62 pacientes. Resultados Se construyó una escala con 10 items pertenecientes a dos dominios. En el estudio de la validez de criterio se obtuvo un coeficiente de correlación de Pearson de 0,71 al comparar la escala del cuidador con los niveles funcionales GMFCS. La consistencia interna fue muy buena con un coeficiente alfa de Crombach total de 0,87. En el estudio de la confiabilidad test retest se encontró un coeficiente de correlación de Pearson mayor a 0,87 para cada uno de los ítems. Conclusiones La “Escala del Cuidador” es un instrumento con una validez, confiabilidad y utilidad aceptables para medir la dificultad en el cuidado de niños con PC severa en nuestro medio.(AU)

Objective To develop and validate a scale for assessing the difficulties of daily care of children with severe cerebral palsy (CP) at functional levels IV and V on the GMFCS (Gross Motor Function Classification System). Materials and Methods A validation study was performed by means of a questionnaire to 108 caregivers of children with CP. The first phase of the study aimed to develop the questionnaire and conduct a pilot experiment. The second phase covered the application of the scale. Finally, the third phase consisted of a psychometric analysis (construct and criterion-related validity, internal consistency) and the determination of the scale's utility. For the retest, the questionnaire was applied to 62 patients. Results A scale was developed with 10 items from two domains. The internal consistency was very good with a Cronbach's alpha of 0.87. For the criterion-related validity, a Pearson's correlation coefficient of 0.71 was obtained when the scale was compared to the GMFCS´s functional levels. For the reliability retest, a Pearson's correlation coefficient higher than 0.87 for each of the items was found. Conclusions The “Caregiver Scale” is a valid and reliable instrument. Its usefulness for measuring the difficulties in the care of children with severe CP is acceptable.(AU)