Pituitary dysfunction after traumatic brain injury in children: is there a need for ongoing endocrine assessment?

BACKGROUND: Hypopituitarism has been widely described in adults after traumatic brain injury (TBI); however, the available data in paediatric populations are scarce. Here, we report the results of a prospective, long-term study in children, adolescents and young adults. STUDY GROUP: Thirty-seven children (age, 2 months to 19·9 years) of 51 eligible patients were followed for 1 year. Clinical and baseline endocrine variables were assessed in all 3 and 12 months after TBI; children ≥ 6 years underwent two stimulation tests (glucagon stimulation and megatest). RESULTS: In the group ≥6 years, 11 of 23 patients (47·8%) had a subnormal GH peak 3 months after TBI that persisted in 8 of 23 patients (34%) after 1 year. The GH response showed no correlation with injury severity (GCS, Marshall classification). Growth velocity was normal in all patients, except for one. Body mass index (BMI) SDS increased significantly in the group with low GH response. A suboptimal cortisol was observed in 10 of 23 subjects, which normalized in all but three, 1 year thereafter. All patients but one showed a pubertal response to GnRH testing. No clinical or hormonal abnormalities were detectable in children <6 years. CONCLUSION: Our results recommend to prospectively follow children after TBI: firstly, because the impairment of pituitary function cannot be predicted, and secondly, to avoid the potential consequences of pituitary dysfunction. Prospective clinical trials are needed before recommending a systematic screening after TBI and/or GH therapy either in postpubertal children or in prepubertal children who grow normally.

Improved detection and management of advanced HIV disease through a community adult TB-contact tracing intervention with same-day provision of the WHO-recommended package of care including ART initiation in a rural district of Mozambique.

INTRODUCTION: AIDS-mortality remains unacceptably high in sub-Saharan Africa, largely driven by advanced HIV disease (AHD). We nested a study in an existing tuberculosis (TB) contact-tracing intervention (Xpatial-TB). The aim was to assess the burden of AHD among high-risk people living with HIV (PLHIV) identified and to evaluate the provision of the WHO-recommended package of care to this population. METHODS: All PLHIV ≥14 years old identified between June and December 2018 in Manhiça District by Xpatial-TB were offered to participate in the study if ART naïve or had suboptimal ART adherence. Consenting individuals were screened for AHD. Patients with AHD (CD4 < 200 cells/µL or WHO stage 3 or 4) were offered a package of interventions in a single visit, including testing for cryptococcal antigen (CrAg) and TB-lipoarabinomannan (TB-LAM), prophylaxis and treatment for opportunistic infections, adherence support or accelerated ART initiation. We collected information on follow-up visits carried out under routine programmatic conditions for six months. RESULTS: A total of 2881 adults were identified in the Xpatial TB-contact intervention. Overall, 23% (673/2881) were HIV positive, including 351 TB index (64.2%) and 322 TB contacts (13.8%). Overall, 159/673 PLHIV (24%) were ART naïve or had suboptimal ART adherence, of whom 155 (97%, 124 TB index and 31 TB-contacts) consented to the study and were screened for AHD. Seventy percent of TB index-patients (87/124) and 16% of TB contacts (5/31) had CD4 < 200 cells/µL. Four (13%) of the TB contacts had TB, giving an overall AHD prevalence among TB contacts of 29% (9/31). Serum-CrAg was positive in 4.6% (4/87) of TB-index patients and in zero TB contacts. All ART naïve TB contacts without TB initiated ART within 48 hours of HIV diagnosis. Among TB cases, ART timing was tailored to the presence of TB and cryptococcosis. Six-month mortality was 21% among TB-index cases and zero in TB contacts. CONCLUSIONS: A TB contact-tracing outreach intervention identified undiagnosed HIV and AHD in TB patients and their contacts, undiagnosed cryptococcosis among TB patients, and resulted in an adequate provision of the WHO-recommended package of care in this rural Mozambican population. Same-day and accelerated ART initiation was feasible and safe in this population including among those with AHD.

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability.

Mutations in human collagen VI genes cause a spectrum of musculoskeletal conditions in children and adults collectively termed collagen VI-related myopathies (COL6-RM) characterized by a varying degree of muscle weakness and joint contractures and which include Ullrich Congenital Muscular Dystrophy (UCMD) and Bethlem Myopathy (BM). Given that collagen VI is one of the most abundant extracellular matrix proteins in adipose tissue and its emerging role in energy metabolism we hypothesized that collagen VI deficiency might be associated with alterations in adipose tissue distribution and adipokines serum profile. We analyzed body composition by means of dual-energy X-ray absorptiometry in 30 pediatric and adult COL6-RM myopathy patients representing a range of severities (UCMD, intermediate-COL6-RM, and BM). We found a distinctive pattern of regional adipose tissue accumulation which was more evident in children at the most severe end of the spectrum. In particular, the accumulation of fat in the android region was a distinguishing feature of UCMD patients. In parallel, there was a decrease in lean mass compatible with a state of sarcopenia, particularly in ambulant children with an intermediate phenotype. All children and adult patients that were sarcopenic were also obese. These changes were significantly more pronounced in children with collagen VI deficiency than in children with Duchenne Muscular Dystrophy of the same ambulatory status. High molecular weight adiponectin and leptin were significantly increased in sera from children in the intermediate and BM group. Correlation analysis showed that the parameters of fat mass were negatively associated with motor function according to several validated outcome measures. In contrast, lean mass parameters correlated positively with physical performance and quality of life. Leptin and adiponectin circulating levels correlated positively with fat mass parameters and negatively with lean mass and thus may be relevant to the disease pathogenesis and as circulating markers. Taken together our results indicate that COL6-RM are characterized by specific changes in total fat mass and distribution which associate with disease severity, motor function, and quality of life and which are clinically meaningful and thus should be taken into consideration in the management of these patients.

Improved detection and management of advanced HIV disease through a community adult TB­contact tracing intervention with same­day provision of the WHO­recommended package of care including ART initiation in a rural district of Mozambique

Introduction: AIDS-mortality remains unacceptably high in sub-Saharan Africa, largely driven by advanced HIV disease (AHD). We nested a study in an existing tuberculosis (TB) contact-tracing intervention (Xpatial-TB). The aim was to assess the burden of AHD among high-risk people living with HIV (PLHIV) identified and to evaluate the provision of the WHO-recommended package of care to this population. Methods: All PLHIV ≥14 years old identified between June and December 2018 in Manhiça District by Xpatial-TB were offered to participate in the study if ART naïve or had suboptimal ART adherence. Consenting individuals were screened for AHD. Patients with AHD (CD4 < 200 cells/µL or WHO stage 3 or 4) were offered a package of interventions in a single visit, including testing for cryptococcal antigen (CrAg) and TB-lipoarabinomannan (TB-LAM), prophylaxis and treatment for opportunistic infections, adherence support or accelerated ART initiation. We collected information on follow-up visits carried out under routine programmatic conditions for six months. Results: A total of 2881 adults were identified in the Xpatial TB-contact intervention. Overall, 23% (673/2881) were HIV positive, including 351 TB index (64.2%) and 322 TB contacts (13.8%). Overall, 159/673 PLHIV (24%) were ART naïve or had suboptimal ART adherence, of whom 155 (97%, 124 TB index and 31 TB-contacts) consented to the study and were screened for AHD. Seventy percent of TB index-patients (87/124) and 16% of TB contacts (5/31) had CD4 < 200 cells/µL. Four (13%) of the TB contacts had TB, giving an overall AHD prevalence among TB contacts of 29% (9/31). Serum-CrAg was positive in 4.6% (4/87) of TB-index patients and in zero TB contacts. All ART naïve TB contacts without TB initiated ART within 48 hours of HIV diagnosis. Among TB cases, ART timing was tailored to the presence of TB and cryptococcosis. Six-month mortality was 21% among TB-index cases and zero in TB contacts. Conclusions: A TB contact-tracing outreach intervention identified undiagnosed HIV and AHD in TB patients and their contacts, undiagnosed cryptococcosis among TB patients, and resulted in an adequate provision of the WHO-recommended package of care in this rural Mozambican population. Same-day and accelerated ART initiation was feasible and safe in this population including among those with AHD.

[Functional assessment for people unable to walk due to spinal muscular atrophy and Duchenne muscular dystrophy. Translation and validation of the Egen Klassifikation 2 scale for the Spanish population]. / Evaluación funcional para personas no ambulantes afectas de atrofia muscular espinal y distrofia muscular de Duchenne. Traducción y validación de la escala Egen Klassifikation 2 para la población española.

INTRODUCTION: The Egen Klassifikation 2 Scale (EK2), expansion of the EK scale, assesses the functional capacity of people with spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) that are in wheelchair phase. This version is more specific for SMA than its EK predecessor. AIM: To examine the validity and reliability of the Spanish version of the scale as a tool for measuring the functional capacity in patients with DMD and SMA who are in wheelchairs. PATIENTS AND METHODS: First, a translation-back-translation into Spanish of the English version of the EK2 was performed; later, we studied the reliability of the translated version. For this, 39 patients, aged between 4 and 60, who were evaluated by two observers, were recruited. To evaluate the intra-observer consistency, two assessments by the same observer were performed, and the inter-observer third assessment was performed by a second observer. RESULTS: The obtained values based on the total score of the scale items (sum EK2) reflect excellent intra- and inter-observer reliability, 0.993 and 0.988 respectively. Also, for each of the items, reliability was excellent except for one item in which it was good. CONCLUSIONS: The Spanish version of the EK2 scale is a valid and reliable instrument for the Spanish population as a tool for measuring the functional capacity in patients with SMA and DMD who are in wheelchairs.

TITLE: Evaluacion funcional para personas no ambulantes afectas de atrofia muscular espinal y distrofia muscular de Duchenne. Traduccion y validacion de la escala Egen Klassifikation 2 para la poblacion española.Introduccion. La escala Egen Klassifikation 2 (EK2), ampliacion de la escala EK, evalua la capacidad funcional de personas con atrofia muscular espinal (AME) y distrofia muscular de Duchenne (DMD) que estan en fase de silla de ruedas. Esta version es mas especifica para la AME que su antecesora. Objetivo. Analizar la validez y fiabilidad de la version española de dicha escala como instrumento de medicion de la capacidad funcional en pacientes afectos de AME y DMD que estan en silla de ruedas. Pacientes y metodos. Primeramente se realizo una traduccion-retrotraduccion al español de la version en ingles de la EK2 y, posteriormente, se estudio la fiabilidad de la version traducida. Para ello, se seleccionaron 39 pacientes, de edades comprendidas entre 4 y 60 años, que fueron valorados por dos observadores. Para evaluar la concordancia intraobservador se realizaron dos evaluaciones por un mismo observador, y para la interobservador, se realizo una tercera evaluacion por un segundo observador. Resultados. Los valores obtenidos referidos a la puntuacion total de los items de la escala (suma EK2) reflejan una fiabilidad intra e interobservador excelente, de 0,993 y 0,988, respectivamente. Asimismo, para cada uno de los items, la fiabilidad fue excelente, a excepcion de un item, en el que fue buena. Conclusiones. La version española de la escala EK2 es un instrumento valido y fiable para la poblacion española como herramienta de medicion de la capacidad funcional en pacientes con AME y DMD que estan en silla de ruedas.

[Translation and validation of the Egen Klassifikation scale for the Spanish population: functional assessment for non-ambulatory individuals with Duchenne's muscular dystrophy and spinal muscular atrophy]. / Traducción y validación de la escala Egen Klassifikation para la población española: evaluación funcional para personas no ambulantes afectas de distrofia muscular de Duchenne y atrofia muscular espinal.

INTRODUCTION: The Egen Klassifikation (EK) scale is a questionnaire that assesses the functional capacity of people with Duchenne muscular dystrophy and spinal muscular atrophy who can't walk and use a wheelchair. AIM: To translate and validate the scale for the Spanish population as a tool for measuring functional capacity in these patients. PATIENTS AND METHODS: We performed first a translation-back translation of EK in the Spanish population and subsequently practiced reliability study of Spanish translated version of the scale. It held three measurements in 30 patients aged 4 to 67 years. Two of these measurements were performed by the same observer, and the third by a second observer to assess intra- and inter-observer agreement. RESULTS: The values refer to the total score of the scale items, EK sum, and reflect a reliability index of 0.995. They also show a higher reliability to 0.86 in each of the items in both intra- and inter-observations observer. CONCLUSIONS: The Spanish version of the EK is a valid and reliable instrument for the Spanish population as a tool for measuring functional capacity in patients with Duchenne muscular dystrophy and spinal muscular atrophy are not ambulatory and use a wheelchair.

TITLE: Traduccion y validacion de la escala Egen Klassifikation para la poblacion espanola: evaluacion funcional para personas no ambulantes afectas de distrofia muscular de Duchenne y atrofia muscular espinal.Introduccion. La escala Egen Klassifikation (EK) es un cuestionario que valora la capacidad funcional de personas con distrofia muscular de Duchenne y atrofia muscular espinal no ambulantes y que estan en silla de ruedas. Objetivo. Traducir y validar la EK para la poblacion espanola, como instrumento de medicion de la capacidad funcional en dichos pacientes. Pacientes y metodos. Se realiza, en primer lugar, una traduccion-retrotraduccion de la EK en la poblacion espanola y, posteriormente, se practica el estudio de fiabilidad de la version traducida al espanol de dicha escala. Se llevan a cabo tres mediciones a 30 pacientes con edades comprendidas entre 4 y 67 anos. Dos de estas mediciones se realizan por el mismo observador, y la tercera, por un segundo observador, para evaluar la concordancia intra e interobservador. Resultados. Los valores obtenidos referidos a la puntuacion total de los items de la escala, suma EK, reflejan un indice de fiabilidad del 0,995. Tambien muestran una fiabilidad superior a 0,86 en cada uno de los items, tanto en las observaciones intra como interobservador. Conclusiones. La version espanola de la EK es un instrumento valido y fiable para la poblacion espanola, como herramienta de medicion de la capacidad funcional en pacientes con distrofia muscular de Duchenne y atrofia muscular espinal no ambulantes y que estan en silla de ruedas.

[Fractures in spinal muscular atrophy]. / Fracturas en la atrofia muscular espinal.

AIM: To determine the frequency of fractures in patients with spinal muscular atrophy, their mechanism of production, age at appearance and functional repercussions. PATIENTS AND METHODS: Sixty-five patients with spinal muscular atrophy were studied. Cases of fractures diagnosed by means of X-rays were collected and the following parameters were analysed: type of spinal muscular atrophy, gait, age at the time the fracture occurred, mechanism of production, location, treatment applied and functional repercussion. RESULTS: Thirteen patients (20%) presented a total of 20 fractures (four of them presented two or more fractures). The mean age was 6.35 years. The fractures were mostly located in the femur and the mechanism of production was falls in 12 cases and minor traumatic injury in eight. No vertebral fractures were detected. All of them were treated conservatively. The only patient with a fracture who was able to walk stopped walking after immobilisation. CONCLUSIONS: The existence of fractures in these patients interferes with their quality of life and their level of functioning. It is important to prevent them from occurring during management of the patient and by ensuring a correct posture in the wheelchair with the use of restraint systems. Further studies are needed on the loss of bone mineral density in these patients and their possible relationship with fractures.

TITLE: Fracturas en la atrofia muscular espinal.Objetivo. Determinar la frecuencia de fracturas en pacientes con atrofia muscular espinal, mecanismo de produccion, edad de aparicion y repercusion funcional. Pacientes y metodos. Se estudian 65 pacientes con atrofia muscular espinal. Se recogen las fracturas diagnosticadas mediante radiografia y se analizan los siguientes parametros: tipo de atrofia muscular espinal, marcha, edad en el momento de la fractura, mecanismo de produccion, localizacion, tratamiento aplicado y repercusion funcional. Resultados. Presentaron fracturas 13 pacientes (20%), con un total de 20 (cuatro presentaron dos o mas fracturas). La edad media fue de 6,35 años. La localizacion fue en su mayoria en el femur y el mecanismo de produccion, en 12 casos por caidas y en 8 por traumatismo menor. No detectamos ninguna fractura vertebral. Todas se trataron de manera conservadora. El unico paciente ambulante que presento una fractura dejo de caminar despues de la inmovilizacion. Conclusiones. La existencia de fracturas en estos pacientes interfiere en su calidad de vida y en el nivel funcional. Es importante la prevencion de las mismas en el manejo del paciente y vigilando la correcta postura en la silla de ruedas con sistemas de sujecion Deberian emprenderse mas estudios sobre la perdida de densidad mineral osea en estos pacientes y su posible relacion con las fracturas.

[Hammersmith functional rating scale for children with spinal muscular atrophy. Validation of the Spanish version]. / Escala de valoración funcional de Hammersmith para niños con atrofia muscular espinal. Validación de la versión española.

AIMS: This study was conducted with the aim of developing the Spanish version of the Hammersmith functional rating scale for children with spinal muscular atrophy (SMA), to establish the interobserver reliability and to adapt it to Spanish children with SMA types II and III. PATIENTS AND METHODS: We assessed 31 children with a mean age of 4.7 years (range: 2.5-9 years) and they were re-assessed at 3, 6 and 12 months. The children with SMA type II could not walk and the children with SMA type III were able to walk. RESULTS: Interobserver reliability was 95%. The median of the score in the group with SMA type II was 17 (range: 0-34) and in the SMA type III group it was 39 (range: 37-40). The results of the group with SMA type II at 12 months were poorer, although not to a statistically significant extent, which suggested that the disease was getting worse. CONCLUSIONS: The Spanish version presents a high degree of interobserver reliability, is easy to administer in clinical practice and is a good tool for assessing the severity of the disease in patients with SMA, above all in those who are unable to walk.

Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy.

OBJECTIVE: To measure muscle strength in patients with spinal muscular atrophy using a handheld dynamometer as an objective tool to evaluate the progression of disease and the outcome of therapeutic trials. DESIGN: Maximum voluntary isometric contraction was measured in a group of 24 patients aged 5-38 years with types II and III spinal muscular atrophy. Four muscle groups were examined. Data were grouped according to age and sex. Comparison was made between spinal muscular atrophy types; ambulatory vs non-ambulatory, and survival motor neuron (SMN)2 copies. The results were compared with those of a healthy reference population. RESULTS: Muscle strength was much lower in patients with spinal muscular atrophy than in the healthy population. The walkers group yielded higher values than patients who were non-walkers. Knee extensors were the weakest muscles in both groups, regardless of the ability to walk. The greatest differences were found between ambulatory and non-ambulatory patients. Non-walkers type III patients showed lower values, similar to those for type II patients. Patients with 3 and 4 SMN2 copies showed higher strength with respect to those with 2 SMN2 copies, although not statistically significant. CONCLUSION: The handheld dynamometer is a valid tool for measuring muscle strength in patients with spinal muscular atrophy. It can be used to measure disease progression and to evaluate changes in therapeutic trials.

Evaluación funcional para personas no ambulantes afectas de atrofia muscular espinal y distrofia muscular de Duchenne. Traducción y validación de la escala Egen Klassifikation 2 para la población española / Functional assessment for people unable to walk due to spinal muscular atrophy and Duchenne muscular dystrophy. Translation and validation of the Egen Klassifikation 2 scale for the Spanish population

Introducción. La escala Egen Klassifikation 2 (EK2), ampliación de la escala EK, evalúa la capacidad funcional de personas con atrofia muscular espinal (AME) y distrofia muscular de Duchenne (DMD) que están en fase de silla de ruedas. Esta versión es más específica para la AME que su antecesora. Objetivo. Analizar la validez y fiabilidad de la versión española de dicha escala como instrumento de medición de la capacidad funcional en pacientes afectos de AME y DMD que están en silla de ruedas. Pacientes y métodos. Primeramente se realizó una traducción-retrotraducción al español de la versión en inglés de la EK2 y, posteriormente, se estudió la fiabilidad de la versión traducida. Para ello, se seleccionaron 39 pacientes, de edades comprendidas entre 4 y 60 años, que fueron valorados por dos observadores. Para evaluar la concordancia intraobservador se realizaron dos evaluaciones por un mismo observador, y para la interobservador, se realizó una tercera evaluación por un segundo observador. Resultados. Los valores obtenidos referidos a la puntuación total de los ítems de la escala (suma EK2) reflejan una fiabilidad intra e interobservador excelente, de 0,993 y 0,988, respectivamente. Asimismo, para cada uno de los ítems, la fiabilidad fue excelente, a excepción de un ítem, en el que fue buena. Conclusiones. La versión española de la escala EK2 es un instrumento válido y fiable para la población española como herramienta de medición de la capacidad funcional en pacientes con AME y DMD que están en silla de ruedas (AU)

Introduction. The Egen Klassifikation 2 Scale (EK2), expansion of the EK scale, assesses the functional capacity of people with spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) that are in wheelchair phase. This version is more specific for SMA than its EK predecessor. Aim. To examine the validity and reliability of the Spanish version of the scale as a tool for measuring the functional capacity in patients with DMD and SMA who are in wheelchairs. Patients and methods. First, a translation-back-translation into Spanish of the English version of the EK2 was performed; later, we studied the reliability of the translated version. For this, 39 patients, aged between 4 and 60, who were evaluated by two observers, were recruited. To evaluate the intra-observer consistency, two assessments by the same observer were performed, and the inter-observer third assessment was performed by a second observer. Results. The obtained values based on the total score of the scale items (sum EK2) reflect excellent intra- and inter-observer reliability, 0.993 and 0.988 respectively. Also, for each of the items, reliability was excellent except for one item in which it was good. Conclusions. The Spanish version of the EK2 scale is a valid and reliable instrument for the Spanish population as a tool for measuring the functional capacity in patients with SMA and DMD who are in wheelchairs (AU)

Fracturas en la atrofia muscular espinal / Fractures in spinal muscular atrophy

Objetivo. Determinar la frecuencia de fracturas en pacientes con atrofia muscular espinal, mecanismo de producción, edad de aparición y repercusión funcional. Pacientes y métodos. Se estudian 65 pacientes con atrofia muscular espinal. Se recogen las fracturas diagnosticadas mediante radiografía y se analizan los siguientes parámetros: tipo de atrofia muscular espinal, marcha, edad en el momento de la fractura, mecanismo de producción, localización, tratamiento aplicado y repercusión funcional. Resultados. Presentaron fracturas 13 pacientes (20%), con un total de 20 (cuatro presentaron dos o más fracturas). La edad media fue de 6,35 años. La localización fue en su mayoría en el fémur y el mecanismo de producción, en 12 casos por caídas y en 8 por traumatismo menor. No detectamos ninguna fractura vertebral. Todas se trataron de manera conservadora. El único paciente ambulante que presentó una fractura dejó de caminar después de la inmovilización. Conclusiones. La existencia de fracturas en estos pacientes interfiere en su calidad de vida y en el nivel funcional. Es importante la prevención de las mismas en el manejo del paciente y vigilando la correcta postura en la silla de ruedas con sistemas de sujeción Deberían emprenderse más estudios sobre la pérdida de densidad mineral ósea en estos pacientes y su posible relación con las fracturas (AU)

Aim. To determine the frequency of fractures in patients with spinal muscular atrophy, their mechanism of production, age at appearance and functional repercussions. Patients and methods. Sixty-five patients with spinal muscular atrophy were studied. Cases of fractures diagnosed by means of X-rays were collected and the following parameters were analysed: type of spinal muscular atrophy, gait, age at the time the fracture occurred, mechanism of production, location, treatment applied and functional repercussion. Results. Thirteen patients (20%) presented a total of 20 fractures (four of them presented two or more fractures). The mean age was 6.35 years. The fractures were mostly located in the femur and the mechanism of production was falls in 12 cases and minor traumatic injury in eight. No vertebral fractures were detected. All of them were treated conservatively. The only patient with a fracture who was able to walk stopped walking after immobilisation. Conclusions. The existence of fractures in these patients interferes with their quality of life and their level of functioning. It is important to prevent them from occurring during management of the patient and by ensuring a correct posture in the wheelchair with the use of restraint systems. Further studies are needed on the loss of bone mineral density in these patients and their possible relationship with fractures (AU)

Traducción y validación de la escala Egen Klassifikation para la población española: evaluación funcional para personas no ambulantes afectas de distrofia muscular de Duchenne y atrofia muscular espinal / Translation and validation of the Egen Klassifikation scale for the Spanish population: functional assessment for non-ambulatory individuals with Duchenne’s muscular dystrophy and spinal muscular atrophy

Introducción. La escala Egen Klassifikation (EK) es un cuestionario que valora la capacidad funcional de personas con distrofia muscular de Duchenne y atrofia muscular espinal no ambulantes y que están en silla de ruedas. Objetivo. Traducir y validar la EK para la población española, como instrumento de medición de la capacidad funcional en dichos pacientes. Pacientes y métodos. Se realiza, en primer lugar, una traducción-retrotraducción de la EK en la población española y, posteriormente, se practica el estudio de fiabilidad de la versión traducida al español de dicha escala. Se llevan a cabo tres mediciones a 30 pacientes con edades comprendidas entre 4 y 67 años. Dos de estas mediciones se realizan por el mismo observador, y la tercera, por un segundo observador, para evaluar la concordancia intra e interobservador. Resultados. Los valores obtenidos referidos a la puntuación total de los ítems de la escala, suma EK, reflejan un índice de fiabilidad del 0,995. También muestran una fiabilidad superior a 0,86 en cada uno de los ítems, tanto en las observaciones intra como interobservador. Conclusiones. La versión española de la EK es un instrumento válido y fiable para la población española, como herramienta de medición de la capacidad funcional en pacientes con distrofia muscular de Duchenne y atrofia muscular espinal no ambulantes y que están en silla de ruedas (AU)

Introduction. The Egen Klassifikation (EK) scale is a questionnaire that assesses the functional capacity of people with Duchenne muscular dystrophy and spinal muscular atrophy who can’t walk and use a wheelchair. Aim. To translate and validate the scale for the Spanish population as a tool for measuring functional capacity in these patients. Patients and methods. We performed first a translation-back translation of EK in the Spanish population and subsequently practiced reliability study of Spanish translated version of the scale. It held three measurements in 30 patients aged 4 to 67 years. Two of these measurements were performed by the same observer, and the third by a second observer to assess intra- and inter-observer agreement. Results. The values refer to the total score of the scale items, EK sum, and reflect a reliability index of 0.995. They also show a higher reliability to 0.86 in each of the items in both intra- and inter-observations observer. Conclusions. The Spanish version of the EK is a valid and reliable instrument for the Spanish population as a tool for measuring functional capacity in patients with Duchenne muscular dystrophy and spinal muscular atrophy are not ambulatory and use a wheelchair (AU)

Escala de valoración funcional de Hammersmith para niños con atrofia muscular espinal. Validación de la versión española / Hammersmith functional rating scale for children with spinal muscular atrophy. Validation of the Spanish version

Objetivos. Desarrollar la versión española de la escala de valoración funcional de Hammersmith para niños con atrofia muscular espinal (AME), establecer la fiabilidad interobservador y adaptarla a niños españoles con AME tipos II y III. Pacientes y métodos. Evaluamos 31 niños con una edad media de 4,7 años (rango: 2,5-9 años), y los reevaluamos a los 3, 6 y 12 meses. Los niños con AME tipo II no caminaban y los niños con AME tipo III eran ambulantes. Resultados. La fiabilidad interobservador era del 95%. La mediana de la puntuación en el grupo con AME II era de 17 (rango: 0-34), y en el grupo con AME III, de 39 (rango: 37-40). Los resultados del grupo con AME II a los 12 meses disminuían, aunque sin significancia estadística, lo que sugería empeoramiento de la enfermedad. Conclusiones. La versión española presenta gran fiabilidad interobservador, fácil administración en la práctica clínica y es una buena herramienta para evaluar la gravedad de la enfermedad en pacientes con AME, principalmente no ambulantes

Aims. This study was conducted with the aim of developing the Spanish version of the Hammersmith functional rating scale for children with spinal muscular atrophy (SMA), to establish the interobserver reliability and to adapt it to Spanish children with SMA types II and III. Patients and methods. We assessed 31 children with a mean age of 4.7 years (range: 2.5-9 years) and they were reassessed at 3, 6 and 12 months. The children with SMA type II could not walk and the children with SMA type III were able to walk. Results. Interobserver reliability was 95%. The median of the score in the group with SMA type II was 17 (range: 0-34) and in the SMA type III group it was 39 (range: 37-40). The results of the group with SMA type II at 12 months were poorer, although not to a statistically significant extent, which suggested that the disease was getting worse. Conclusions. The Spanish version presents a high degree of interobserver reliability, is easy to administer in clinical practice and is a good tool for assessing the severity of the disease in patients with SMA, above all in those who are unable to walk