RESUMEN
BACKGROUND: Despite several diagnostic guidelines, Fetal Alcohol Spectrum Disorders (FASDs) remain underdiagnosed or misdiagnosed, delaying the care of these patients and support for families. OBJECTIVE: This study aims to help professionals caring for these children and their families to suspect this diagnosis earlier and to provide the most appropriate follow-up. METHODS: A retrospective chart review with monocentric recruitment was performed at the Genetics Unit of the University Hospital of Reunion Island. A total of 147 children and adolescents with FASDs were included. RESULTS: Prenatal alcohol exposure was associated with paternal alcohol consumption in 42.9%, and a high rate of prematurity (33.3%) was observed. Sixty percent of children or adolescents were placed in foster families. Learning difficulties without cognitive deficits were found in 65.8% of cases (50/76). Postural control and fine motor skills disabilities were described, respectively, in 54.7% (35/64) and 72.5% (50/69) of cases. A systematic genetic assessment was carried out, identifying in these FASD patients an associated Copy Number Variation (CNVs) in 22.6% of cases. CONCLUSION: Children with FASDs combine significant vulnerabilities, associating exposure to alcohol during the preconception and/or the prenatal period, prematurity, complex familial and sociocultural living conditions, and a genetic anomaly in almost a quarter of cases.
RESUMEN
Cervical spinal cord injury (SCI) causes dramatic sensorimotor deficits that restrict both activity and participation. Restoring activity and participation requires extensive upper limb rehabilitation focusing elbow and wrist movements, which can include motor imagery. Yet, it remains unclear whether MI ability is impaired or spared after SCI. We investigated implicit and explicit MI ability in individuals with C6 or C7 SCI (SCIC6 and SCIC7 groups), as well as in age- and gender-matched controls without SCI. Inspired by previous studies, implicit MI evaluations involved hand laterality judgments, hand orientation judgments (HOJT) and hand-object interaction judgments. Explicit MI evaluations involved mental chronometry assessments of physically possible or impossible movements due to the paralysis of upper limb muscles in both groups of participants with SCI. HOJT was the paradigm in which implicit MI ability profiles differed the most between groups, particularly in the SCIC6 group who had impaired elbow movements in the horizontal plane. MI ability profiles were similar between groups for explicit MI evaluations, but reflected task familiarity with higher durations in the case of unfamiliar movements in controls or attempt to perform movements which were no longer possible in persons with SCI. Present results, obtained from a homogeneous population of individuals with SCI, suggest that people with long-term SCI rely on embodied cognitive motor strategies, similar to controls. Differences found in behavioral response pattern during implicit MI mirrored the actual motor deficit, particularly during tasks that involved internal representations of affected body parts.
Asunto(s)
Codo , Imaginación , Movimiento , Traumatismos de la Médula Espinal , Humanos , Masculino , Femenino , Adulto , Traumatismos de la Médula Espinal/fisiopatología , Traumatismos de la Médula Espinal/psicología , Traumatismos de la Médula Espinal/rehabilitación , Persona de Mediana Edad , Imaginación/fisiología , Codo/fisiopatología , Movimiento/fisiología , Desempeño Psicomotor/fisiología , Lateralidad Funcional/fisiología , Juicio/fisiología , Mano/fisiopatología , Mano/fisiologíaRESUMEN
OBJECTIVE: The goal of this study is to minimize arm forces applied during sit-to-stand (STS) transfers in persons with spinal cord injury (SCI) by using functional electrical stimulation (FES) applied to lower limbs muscles. MATERIALS AND METHODS: A new FES system has been used to automatically trigger muscle stimulation of the lower limbs, at the desired moment in regards to trunk motion. The objective was to decrease arm participation during STS motion of a person with complete paraplegia and low-level tetraplegia. Six participants with chronic SCI participated in the study. Participants with SCI were recruited to complete STS movement using a new system for FES-assisted STS transfer. All participants attended one muscle mapping session to test their muscles condition, two training sessions to become familiarized with the experimental setup, and two measurement sessions using the proposed system for FES-assisted STS movement. The applied arm forces during STS movement were recorded and analyzed for different stimulation onset values with respect to the maximal trunk acceleration signal using one-way ANOVA statistical test. Post-hoc analysis was performed using Tukey's method. RESULTS: The results of this study showed that the moment of the stimulation onset has an influence on the arm forces applied during the STS motion. The lowest values of arm forces were obtained for STS movements where the electrical stimulation was triggered before and around the time corresponding to the maximal value of the trunk acceleration signal. CONCLUSION: Lowest arm forces values were obtained for STS motions that were similar to those of healthy persons in terms of trunk movements and beginning of lower limb movements in regards to maximal trunk acceleration signal. The FES system was able to mimic the rising motion of a healthy individual by triggering the FES at the appropriate moment. This method could prove useful for pivot transfer, therapeutic or functional verticalization.