Motor Function

Pompe disease is a metabolic myopathy caused by deficiency of lysosomal acid alpha-glucosidase. In this report we review the first 36 weeks of a clinical study on the safety and efficacy of enzyme therapy aimed at correcting the deficiency. Four patients with infantile Pompe disease were enrolled. They received recombinant human alpha-glucosidase from transgenic rabbit milk. The product is generally well tolerated and reaches the primary target tissues. Normalization of alpha-glucosidase activity in skeletal muscle was obtained and degradation of PAS-positive material was seen in tissue sections. The clinical condition of all patients improved. The effect on heart was most significant, with an impressive reduction of the left ventricular mass index (LVMI). Motor function improved. The positive preliminary results stimulate continuation and extension of efforts towards the realization of enzyme therapy for Pompe disease.

Although the favorable effects of physical exercise in neurorehabilitation after traumatic brain injury (TBI) are well known, detailed pathologic and functional alterations exerted by previous physical exercise on post-traumatic cerebral inflammation have been limited. In the present study, it is showed that fluid percussion brain injury (FPI) induced motor function impairment, followed by increased plasma fluorescein extravasation and cerebral—inflammation characterized by interleukin-1β, tumor necrosis factor-α (TNF-α) increase, and decreased IL-10. In addition, myeloperoxidase (MPO) increase and Na+,K+-ATPase activity inhibition after FPI suggest that the opening of blood–brain barrier (BBB) followed by neurtrophils infiltration and cerebral inflammation may contribute to the failure of selected targets leading to secondary damage. In fact, Pearson’s correlation analysis revealed strong correlation of MPO activity increase with Na+,K+-ATPase activity inhibition in sedentary rats. Statistical analysis also revealed that previous running exercise (4 weeks) protected against FPI-induced motor function impairment and fluorescein extravasation. Previous physical training also induced IL-10 increase per se and protected against cerebral IL-1β, and TNF-α increase and IL-10 decrease induced by FPI. This protocol of physical training was effective against MPO activity increase and Na+,K+-ATPase activity inhibition after FPI. The present protection correlated with MPO activity decrease suggests that the alteration of cerebral inflammatory status profile elicited by previous physical training reduces initial damage and limits long-term secondary degeneration after TBI. This prophylactic effect may facilitate functional recovery in patients suffering from brain injury induced by TBI.

To determine the behavioral and developmental effects of preventing iron-deficiency anemia in infancy. Healthy full-term Chilean infants who were free of iron-deficiency anemia at 6 months were assigned to high- or low-iron groups or to high- or no-added-iron groups. Behavioral/developmental outcomes at 12 months of age included overall mental and motor test scores and specific measures of motor functioning, cognitive processing, and behavior. There were no differences between high- and low-iron groups in the prevalence of iron-deficiency anemia or behavioral/developmental outcome, and they were combined to form an iron-supplemented group (n = 1123) for comparison with the no-added-iron group (n = 534). At 12 months, iron-deficiency anemia was present in 3.1% and 22.6% of the supplemented and unsupplemented groups, respectively. The groups differed in specific behavioral/developmental outcomes but not on global test scores. Infants who did not receive supplemental iron processed inf...

Rigby PJ, Ryan SE, Campbell KA. Effect of adaptive seating devices on the activity performance of children with cerebral palsy.To evaluate the short-term impact of 2 adaptive seating devices on the activity performance and satisfaction with performance of children with cerebral palsy (CP), as observed by their parents.Baseline-intervention-baseline study.Homes of participating families.Parents and their children (N=30), mean age of 4 years 6 months, with Gross Motor Function Classification System levels III and IV CP participated.Two special purpose seating devices: one for sitting support on the floor or on a chair, the other for postural control on a toilet.Changes in activity performance and satisfaction were measured through parent ratings on the Canadian Occupational Performance Measure. We interviewed parents biweekly using the Home Activity Log to describe and explain their child's activity performance during the 3 study phases.Parents identified 139 activity performance issues (4.6 a child): 58.3% in self-care, 34.5% in play, and 7.2% in socialization and quiet recreation. We used paired t tests to demonstrate significantly improved performance and satisfaction with self-care and play activities when the children used the adaptive seating devices during the 6-week intervention phase. Three themes arose from the analysis of comments made by parents during Home Activity Log interviews: adaptive seating can have an enabling influence on the child, caregivers and family find adaptive seating useful, and the adaptive seating devices did not meet every family's needs.Parents reported that their young children with CP were more able to engage in self-care and play activities when using specific adaptive seating devices in their home. Parents indicated that their child's activity performance decreased after the seating devices were removed from their homes.

Nine chronic stroke subjects trained over a period of 6 weeks, with 3 one-hour sessions of robot-assisted therapy per week, consisting in two exercises requiring active participation pro-moted by therapeutic games. Behavioral data collected by the Haptic Knob were ...

Background "Use it or lose it" is a well known saying which is applicable to boys with Duchenne Muscular Dystrophy (DMD). Besides the direct effects of the muscular dystrophy, the increasing effort to perform activities, the fear of falling and the use of personal aids indirectly impair leg and arm functions as a result of disuse. Physical training could oppose this secondary physical deterioration. The No Use is Disuse (NUD) study is the first study in human subjects with DMD that will examine whether a low-intensity physical training is beneficial in terms of preservation of muscle endurance and functional abilities. The study consists of two training intervention studies: study 1 "Dynamic leg and arm training for ambulant and recently wheelchair-dependent boys with DMD and, study 2 "Functional training with arm support for boys with DMD who have been confined to a wheelchair for several years". This paper describes the hypotheses and methods of the NUD study. Methods Study 1 is an explorative randomized controlled trial with multiple baseline measurements. Thirty boys with a DNA-established diagnosis of DMD will be included. The intervention consists of a six-months physical training during which boys train their legs and arms with active and/or assisted cycling training equipment. The primary study outcomes are muscle endurance and functional abilities, assessed with a Six-Minute Bicycle Test and the Motor Function Measure. Study 2 has a within-group repeated measurements design and will include ten boys with DMD who have already been confined to a wheelchair for several years. The six-months physical training program consists of 1) a computer-assisted training and 2) a functional training with an arm support. The primary study outcome is functional abilities of the upper extremity, assessed with the Action Research Arm Test. Discussion The NUD study will fill part of the gap in the current knowledge about the possible effects of training in boys with DMD and will increase insight into what type of exercise should be recommended to boys with DMD. The study will finish at the end of 2010 and results are expected in 2011. Trial registration The Netherlands National Trial Register1631

Recent proposals of classification for cerebral palsy (CP), mainly revised for epidemiological purposes, suggest to abandon the use of the term diplegia. Conversely, in this paper data are presented to support the proposal to maintain the distinction between spastic tetraplegia and diplegia, and to subdivide this latter according to four main clinical patterns of walking observable in these children. This proposal of classification was validated by testing a group of 467 subjects with CP, of whom 213 with diplegia and 115 with tetraplegia, consecutively admitted between January 2005 and December 2006 to two national reference centers for this disability. The results were compared with findings obtained by other methods of classifying gross and fine motor function and associated disorders. The subjects with tetraplegia strongly differ from those of diplegia, both for motor functions and for other disabilities. The four main walking patterns of spastic diplegia were easily recognizabl...

Deficits in daytime performance due to sleep loss are experienced universally and associated with a significant social, financial, and human cost. Microsleeps, sleep attacks, and lapses in cognition increase with sleep loss as a function of state instability. Sleep deprivation studies repeatedly show a variable (negative) impact on mood, cognitive performance, and motor function due to an increasing sleep propensity and destabilization of the wake state. Specific neurocognitive domains including executive attention, working memory, and divergent higher cognitive functions are particularly vulnerable to sleep loss. In humans, functional metabolic and neurophysiological studies demonstrate that neural systems involved in executive function (i.e., prefrontal cortex) are more susceptible to sleep deprivation in some individuals than others. Recent chronic partial sleep deprivation experiments, which more closely replicate sleep loss in society, demonstrate that profound neurocognitive d...