Patterns of use of a myoelectric prosthesis in a cohort of children with transverse defects below the level of the elbow.

BACKGROUND: Myoelectric prostheses have become the accepted standard of care for pediatric upper-limb amputees. OBJECTIVES: To describe the clinical characteristics and patterns of prosthesis use and to analyze the changes that occur during the growth process of these patients. STUDY DESIGN: This is a longitudinal retrospective study comparing the results of surveys carried out in 2015 and 2022. METHODS: The variables measured included clinical and demographic characteristics, patterns of use, and satisfaction with the prosthesis. RESULTS: Twenty-one patients with transverse defects were fitted with myoelectric prostheses. With increasing age, there was a statistically nonsignificant decrease in the duration of use and a decrease in the number of patients using the prosthesis for activities of daily living from 13 to 10 (p = 0.045), with a 28% dropout rate, higher in patients with more distal defects. CONCLUSIONS: Since 2015, we have observed a decrease in the number of hours of prosthesis use, while maintaining a high percentage of patients using the prosthesis.

Design and Validation of a Clinical Outcome Measure for Adolescents and Adult Patients with Spinal Muscular Atrophy: SMA Life Study Protocol.

INTRODUCTION: The objective of this study is to develop a clinical tool for the evaluation and follow-up of adolescent and adult patients with 5q spinal muscular atrophy (SMA) and to design its validation. METHODS: This prospective, non-interventional study will be carried out at five centres in Spain and will include patients aged 16 years or older with a confirmed diagnosis of 5q SMA (biallelic mutation of the survival motor neuron 1 [SMN1] gene). A panel of experts made up of neurologists, physiatrists and Spanish patients' association (FundAME), participated in the design of the clinical tool. Physicians will administer the tool at three time points (baseline, 12 months and 24 months). Additionally, data from other questionnaires and scales will be collected. Once recruitment is achieved, an interim statistical analysis will be performed to assess its psychometric properties by applying Rasch analysis and classical statistical tests. RESULTS: The tool will consist of up to 53 items to assess functional status from a clinical perspective in seven key dimensions (bulbar, respiratory, axial, lower, upper, fatigability and other symptoms), which will be collected together with objective clinical measures (body mass index, forced vital capacity, pinch strength and 6-minute walk test). CONCLUSIONS: The validation of this tool will facilitate the clinical evaluation of adult and adolescent patients with SMA and the quantification of their response to new treatments in both clinical practice and research.

European expert consensus on improving patient selection for the management of disabling spasticity with intrathecal baclofen and/or botulinum toxin type A.

OBJECTIVE: To develop an algorithm for the selection of adults with disabling spasticity for treatment with intrathecal baclofen (ITB) and/or botulinum toxin type A (BoNT A). METHODS: A European Advisory Board of 4 neurologists and 4 rehabilitation specialists performed a literature review on ITB and BoNT A treatment for disabling spasticity. An online survey was sent to 125 physicians and 13 non-physician spasticity experts. Information on their current clinical practice and level of agreement on proposed selection criteria was used to inform algorithm design. Consensus was considered reached when ≥75% of respondents agreed or were neutral. RESULTS: A total of 79 experts from 17 countries completed the on-line survey (57%). Agreement was reached that patients with multi-segmental or generalized disabling spasticity refractory to oral drugs are the best candidates for ITB (96.1% consensus), while those with focal/segmental disabling spasticity are ideal candidates for BoNT A (98.7% consensus). In addition the following are good candidates for ITB (% consensus): bilateral disabling spasticity affecting lower limbs only (97.4%), bilateral (100%) or unilateral (90.9%) disabling spasticity affecting lower limbs and trunk, and unilateral or bilateral disabling spasticity affecting upper and lower extremities (96.1%). CONCLUSION: This algorithm will support the management of adult patients with disabling spasticity by aiding patient selection for ITB and/or BoNT A treatments.

Guía clínica de la enfermedad de Pompe infantil / Clinical guidelines for infantile-onset Pompe disease

La enfermedad de Pompe infantil tiene un pronóstico fatal a corto plazo si no se diagnostica precozmente ni se inicia un tratamiento enzimático sustitutivo lo antes posible. Un grupo de especialistas de las diferentes disciplinas involucradas en esta enfermedad ha revisado la evidencia científica actual y ha elaborado por consenso una serie de recomendaciones para el diagnóstico, el tratamiento y el seguimiento de los pacientes. Se recomienda instaurar tratamiento enzimático en todo paciente con enfermedad de Pompe sintomática de comienzo en el primer año de vida, con diagnóstico clínico y enzimático, y una vez conocido el estado CRIM (material inmunológico con reactividad cruzada) (AU)

Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known (AU)

Hypothermia in comatose survivors from out-of-hospital cardiac arrest: pilot trial comparing 2 levels of target temperature.

BACKGROUND: It is recommended that comatose survivors of out-of-hospital cardiac arrest should be cooled to 32° to 34°C for 12 to 24 hours. However, the optimal level of cooling is unknown. The aim of this pilot study was to obtain initial data on the effect of different levels of hypothermia. We hypothesized that deeper temperatures will be associated with better survival and neurological outcome. METHODS AND RESULTS: Patients were eligible if they had a witnessed out-of-hospital cardiac arrest from March 2008 to August 2011. Target temperature was randomly assigned to 32°C or 34°C. Enrollment was stratified on the basis of the initial rhythm as shockable or asystole. The target temperature was maintained during 24 hours followed by 12 to 24 hours of controlled rewarming. The primary outcome was survival free from severe dependence (Barthel Index score ≥60 points) at 6 months. Thirty-six patients were enrolled in the trial (26 shockable rhythm, 10 asystole), with 18 assigned to 34°C and 18 to 32°C. Eight of 18 patients in the 32°C group (44.4%) met the primary end point compared with 2 of 18 in the 34°C group (11.1%) (log-rank P=0.12). All patients whose initial rhythm was asystole died before 6 months in both groups. Eight of 13 patients with initial shockable rhythm assigned to 32°C (61.5%) were alive free from severe dependence at 6 months compared with 2 of 13 (15.4%) assigned to 34°C (log-rank P=0.029). The incidence of complications was similar in both groups except for the incidence of clinical seizures, which was lower (1 versus 11; P=0.0002) in patients assigned to 32°C compared with 34°C. On the contrary, there was a trend toward a higher incidence of bradycardia (7 versus 2; P=0.054) in patients assigned to 32°C. Although potassium levels decreased to a greater extent in patients assigned to 32°C, the incidence of hypokalemia was similar in both groups. CONCLUSIONS: The findings of this pilot trial suggest that a lower cooling level may be associated with a better outcome in patients surviving out-of-hospital cardiac arrest secondary to a shockable rhythm. The benefits observed here merit further investigation in a larger trial in out-of-hospital cardiac arrest patients with different presenting rhythms. CLINICAL TRIAL REGISTRATION: URL: http://www.clinicaltrials.gov. Unique identifier: NCT01155622.