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Gait training in a virtual reality (VR) environment is promising for children affected by different disorders. However, the efficacy of VR therapy is still under debate, and more research is needed to clarify its effects on clinical conditions. The combination of VR with neuroimaging methods, such as the electroencephalography (EEG), might help in answering this need. The aim of the present work was to set up and test a system for the multimodal analysis of the gait pattern during VR gait training of pediatric populations by analyzing the EEG correlates as well as the kinematic and kinetic parameters of the gait. An EEG system was integrated with the Gait Real-time Analysis Interactive Lab (GRAIL). We developed and validated, with healthy adults (n = 5) and children (n = 4, healthy or affected by cerebral palsy (CP)), the hardware and software integration of the two systems, which allowed the synchronization of the acquired signals and a reliable identification of the initial contact (IC) of each gait cycle, showing good sensitivity and critical success index values. Moreover, we tested the multimodal acquisition by successfully analyzing EEG data and kinematic and kinetic parameters of one healthy child and one child with CP. This system gives the possibility of monitoring the effect of the VR therapy and studying the neural correlates of gait.

With more widespread prolonged survival, Duchenne muscular dystrophy patients progressively experience multisystem complications. We retrospectively reviewed the charts of 132 Duchenne patients (112 alive/20 dead, age 3.5÷32.3 years) with the aims: 1) to provide a comprehensive description of the clinical status considering different aspects of the disease; 2) to propose a new scoring tool able to consider and pool together heterogeneous different functional. Five functions were analyzed: cardiac, respiratory, nutritional, ambulation and scoliosis. For each function, different items were considered and classified according to clinical severity (as indicated by international guidelines) and an incremental scoring was assigned. In addition, a global score incorporating all functions was defined. The scoring system confirmed that despite the significant protective role of steroids, all functions deteriorated with age. The severity of the global score became significantly higher since the age of 13 years. The severity of cardiac, respiratory and nutritional dysfunction was higher since 18 years. Deceased patients were characterized by significantly worse cardiac function, absence of steroid therapy and later use of respiratory assistive devices. The index proposed in this pilot study is a promising tool able to aggregate and correlate heterogeneous functions. It could become either an individual prognostic indicator of decline or a global score to evaluate changes in clinical trials therefore allowing multicenter studies, optimizing the management of both the primary and the secondary complications of the disease and understanding their relative impact.

Immersive virtual reality (IVR) offers new possibilities to perform treatments in an ecological and interactive environment with multimodal online feedbacks. Sixteen school-aged children (mean age 11 ± 2.4 years) with Bilateral CP-diplegia, attending mainstream schools were recruited for a pilot study in a pre-post treatment experimental design. The intervention was focused on walking competences and endurance and performed by the Gait Real-time Analysis Interactive Lab (GRAIL), an innovative treadmill platform based on IVR. The participants underwent eighteen therapy sessions in 4 weeks. Functional evaluations, instrumental measures including GAIT analysis and parental questionnaire were utilized to assess the treatment effects. Walking pattern (stride length left and right side, respectively p = 0.001 and 0.003; walking speed p = 0.001), endurance (6MWT, p = 0.026), gross motor abilities (GMFM-88, p = 0.041) and most kinematic and kinetic parameters significantly improved after the intervention. The changes were mainly predicted by age and cognitive abilities. The effect could have been due to the possibility of IVR to foster integration of motor/perceptual competences beyond the training of the walking ability, giving a chance of improvement also to older and already treated children.

Background Robot-Assisted Gait Training (RAGT) is a widespread approach for locomotion rehabilitation but information about intervention frequency and duration is still lacking. Objective To evaluate the effect of frequency and duration of a RAGT on motor outcome of children affected by Cerebral Palsy (CP). Methods Forty-four CP children (age 4-17) underwent one among four different intensive trainings with equal dose of intervention, combining Task-Oriented Physiotherapy (TOP) and RAGT: 40 sessions (4 sessions/week) over 10 weeks of sole TOP (group1) or RAGT (group2) or RAGT and TOP (2 + 2 sessions/week; group3); 40 sessions in shorter period (4 weeks) of RAGT and TOP (5 + 5 sessions/week; group4). Each child was assessed before, after the training and after 3 months with: Ashworth, gross motor function measure (GMFM)-88, GMFM-66, six minutes walking test and gait analysis. Results No differences among the 4 protocols were highlighted although both groups with exclusive physiotherapy and RAGT obtained significant improvements in GMFM-88, GMFM-E and GMFM-66 while the mixed approaches did not show significant changes. Conclusion Single-treatment approaches seem to be more effective than mixed approaches, independently from the duration (4 or 10 weeks). RAGT seems to have similar effect with respect to the traditional TOP, at least over 10 weeks.

Background Family-centred care (FCC) is recognized as the model of best practice for the provision of services for children who have physical disabilities and their families. Objective To assess the overall perception of FCC provided in an Italian network of 17 rehabilitation services, as perceived by parents of children with cerebral palsy and professionals, and to explore whether children, families, service providers and service-related characteristics influence parent satisfaction regarding service provision in an FCC practice. Methods The Measure of Processes of Care (MPOC-20) for parents/caregivers and the Measure of Processes of Care for Service Providers (MPOC-SP) for healthcare providers were used. For the purposes of the study, an ad hoc information form was developed to collect information concerning children, families, service providers and services. Results A total of 382 parents/caregivers and 269 healthcare providers completed the MPOC questionnaires. Parents and service providers both identified the domains for enabling partnerships and interpersonal sensitivity as a strength, while the domain relating to general information was always scored the lowest. An advanced maternal age, being a single parent, being unemployed and having lower socio-economic status were factors identified as individually predictive of lower FCC scores on the MPOC-20. Higher intensity treatment, inpatient services, primary healthcare settings and settings identified with limited financial resources and reduced space/time for each family were other variables significantly associated with less favourable MPOC-20 ratings. Conclusions The perception of FCC provided was fairly positive, with some areas of improvement, such as the domain of provision of information. Professionals should, therefore, provide better communication and take more time in giving information and attention to parents. Potential sources of variation in parent perceptions of FCC based on family characteristics and the organization of services highlight the importance the need to support services through the provision of greater financial and human resources.

SummaryBackground: Acquired brain injury (ABI) may result in lifelong impairment of physical, cognitive, and psychosocial functions. Several rehabilitative treatments are often needed to support walking recovery, thus participants’ engagement becomes a crucial aspect, especially when patients are children. In the last few years, traditional physiotherapy (PT) has been flanked by innovative technologies for rehabilitation in the fields of robotics and Virtual Reality (VR). Preliminary results have shown interesting perspectives in the use of a VR system, the GRAIL (Gait Real-time Analysis Interactive Lab), in improving walking abilities in a small group of children with ABI, although further insights are needed about its use as rehabilitative tool in the pediatric population.Objectives: To evaluate the efficacy of a rehabilitation treatment on a GRAIL system for the improvement of walking abilities, in a group of children suffering from ABI.Methods: 12 children with ABI (study group – SG; mean age = 12.1 ± 3.8 years old) underwent a 10-session treatment with the GRAIL, an instrumented multi-sensor platform based on immersive VR for gait training and rehabilitation in engaging VR environments. Before (T0) and at the end of the treatment (T1), the participants were assessed by means of functional scales (Gross Motor Function Measure (GMFM), Functional Assessment Questionnaire (FAQ), 6-Minute Walk Test (6minWT) and the 3D-Gait Analysis, over ground (OGA) and on GRAIL (GGA).Results: All the participants completed the rehabilitative treatment. The functional evaluations showed an improvement in Gross Motor abilities (GMFM-88, p = 0.008), especially in standing (GMFM-D, p = 0.007) and walking (GMFM-E, p = 0.005), an increase of the endurance (6minWT, p = 0.002), and enhanced autonomy in daily life activities (FAQ, p = 0.025). OGA identified a significant decrease of the Gillette Gait Index for the impaired side and a general increase of symmetry. GGA showed improvements in spatiotemporal parameters and joints range of motion that moved towards normality and symmetry recovery.Conclusions: A 10-session treatment with GRAIL on children with ABI led to improvements in their walking abilities and enhanced their engagement during the training. This is desirable when long life impairments are faced and children’s motor functions have to be regained and it supports the leading role that VR might have in the rehabilitation field.

BACKGROUND AND PURPOSE: Cerebral palsy is frequently associated with both motor and nonmotor symptoms. DTI can characterize the damage at the level of motor tracts but provides less consistent results in nonmotor areas. We used a standardized pipeline of analysis to describe and quantify the pattern of DTI white matter abnormalities of the whole brain in a group of children with chronic bilateral cerebral palsy and periventricular leukomalacia. We also explored potential correlations between DTI and clinical scale metrics. MATERIALS AND METHODS: Twenty-five patients (mean age, 11.8 years) and 25 healthy children (mean age, 11.8 years) were studied at 3T with a 2-mm isotropic DTI sequence. Differences between patients and controls were assessed both voxelwise and in ROIs obtained from an existing DTI atlas. Clinical metrics included the Gross Motor Function Classification System, the Manual Ability Classification System, and intelligence quotient. RESULTS: The voxel-level and ROI-level analyses demonstrated highly significant (P < .001) modifications of DTI measurements in patients at several levels: cerebellar peduncles, corticospinal tracts and posterior thalamic radiations, posterior corpus callosum, external capsule, anterior thalamic radiation, superior longitudinal fasciculi and corona radiata, optic nerves, and chiasm. The reduction of fractional anisotropy values in significant tracts was between 8% and 30%. Statistically significant correlations were found between motor impairment and fractional anisotropy in corticospinal tracts and commissural and associative tracts of the supratentorial brain. CONCLUSIONS: We demonstrated the involvement of several motor and nonmotor areas in the chronic damage associated with periventricular leukomalacia and showed new correlations between motor skills and DTI metrics.

Maintenance of stability for children in a wheelchair, particularly for those with spasticity, can be achieved through external stabilization components, such as pelvic positioning belts. Different kinds of pelvic belts exist on the market and one of the main characteristics is the different number of attachment points between the seat and the belt. As literature on this topic is limited to qualitative assessments, this study compared quantitatively 4-point versus 2-point pelvic positioning belts for the trunk fixation in 20 young patients with spasticity. Our data showed that 70% of the children required the use of pelvic belts on wheelchairs for stability and a better stability was observed with the 4-point belts than compared to the 2-point. Data generally showed in fact a higher percent of variation in terms of trunk flexion angleand knee joint angle with the 2-point belt than the 4-point belt, indicating increased submarining with the 2-point belt during sitting maintenance if compared to the 4-point belt (p < 0.05). According to our results, the 4-point belts seem to be the most effective configuration for patient stabilization, suggesting that its use prevents the thigh from submarining.

SummaryIntroduction: This article is part of the Focus Theme of Methods of Information in Medicine on “Methodologies, Models and Algorithms for Patients Rehabilitation”. Objectives: The great potential of robots in extracting quantitative and meaningful data is not always exploited in clinical practice. The aim of the present work is to describe a simple parameter to assess the performance of subjects during upper limb robotic training exploiting data automatically recorded by the robot, with no additional effort for patients and clinicians. Methods: Fourteen children affected by cerebral palsy (CP) performed a training with Armeo®Spring. Each session was evaluated with P, a simple parameter that depends on the overall performance recorded, and median and interquartile values were computed to perform a group analysis. Results: Median (interquartile) values of P significantly increased from 0.27 (0.21) at T0 to 0.55 (0.27) at T1 . This improvement was functionally validated by a significant increase of the Melbourne Assessment of Unilateral Upper Limb Function. Conclusions: The parameter described here was able to show variations in performance over time and enabled a quantitative evaluation of motion abilities in a way that is reliable with respect to a well-known clinical scale.

The Gait Real-time Analysis Interactive Lab (GRAIL) is an innovative platform based on immersive Virtual Reality (VR), providing amazing scenarios where the subjects are asked to walk or change their load and posture to get points and conclude exergames. The system captures in real-time the kinematic and kinetic of the motion and gives multi sensorial feedbacks (audio, video, or proprioceptive) to the subject. The GRAIL system has been recently used for the rehabilitation of walking abilities in the developmental age. In this study, 11 children suffering from bilateral cerebral palsy (CP) underwent a 20-session treatment with the GRAIL plus 20 sessions of physical therapy; gross motor abilities and the 3D gait analysis were selected as outcome measures. Significant improvements in the kinematic and kinetics of the walking were observed: the walking speed, the maximum power at the ankle during flexo-extension, the knee flexion at the initial contact are only some of the parameters that improved after the training.

This study aims to compare in hemiplegic children the effectiveness of intensive training (unimanual and bimanual) versus standard treatment in improving hand function, assessing the persistence after 6 months. A multicenter, prospective, cluster-randomized controlled clinical trial was designed comparing 2 groups of children with hemiplegic cerebral palsy, treated for 10 weeks (3 h/d 7 d/wk; first with unimanual constraint-induced movement therapy, second with intensive bimanual training) with a standard treatment group. Children were assessed before and after treatment and at 3 and 6 months postintervention using Quality of Upper Extremity Skills Test (QUEST) and Besta Scales. One hundred five children were recruited (39 constraint-induced movement therapy, 33 intensive bimanual training, 33 standard treatment). Constraint-induced movement therapy and intensive bimanual training groups had significantly improved hand function, showing constant increase in time. Grasp improved immediately and significantly with constraint-induced movement therapy, and with bimanual training grasp improved gradually, reaching the same result. In both, spontaneous hand use increased in long-term assessment.

a b s t r a c t This open-label, single centre pilot study was designed to evaluate safety and tolerability of the combina- tion of the drugs isosorbide dinitrate, a nitric oxide donor, and ibuprofen, a non steroid anti-inflammatory drug, in a cohort of adult dystrophic patients (Duchenne, Becker and Limb-Girdle Muscular Dystrophy). Seventy-one patients were recruited: 35, treated with the drug combination for 12 months, and 36 untreated. Safety and adverse events were assessed by reported signs and symptoms, physical exam- inations, blood tests, cardiac and respiratory function tests. Exploratory outcomes measure, such as the motor function measure scale, were also applied. Good safety and tolerability profiles of the long-term co-administration of the drugs were demon- strated. Few and transient side effects (i.e. headache and low blood pressure) were reported. Additionally, exploratory outcomes measures were feasible in all the disease population studied and evidenced a trend towards amelioration that reached statistical significance in one dimension of the MFM scale. Systemic administration of ibuprofen and isosorbide dinitrate provides an adequate safety margin for clinical studies aimed at assessing efficacy.

Brain-Computer Interfaces (BCIs) are systems which can provide communication and environmental control to people with severe neuromuscular diseases. The current study proposes a new BCI-based method for psychometric assessment when traditional or computerized testing cannot be used owing to the subject's output impairment. This administration protocol was based on, and validated against, a widely used clinical test (Raven Colored Progressive Matrix) in order to verify whether BCI affects the brain in terms of cognitive resource with a misstatement result. The operating protocol was structured into two phases: phase 1 was aimed at configuring the BCI system on the subject's features and train him/her to use it; during phase 2 the BCI system was reconfigured and the test performed. A step-by-step checking procedure was adopted to verify progressive inclusion/exclusion criteria and the underpinning variables. The protocol was validated on 19 healthy subjects and the BCI-based administration was compared with a paper-based administration. The results obtained by both methods were correlated as known for traditional assessment of a similarly culture free and reasoning based test. Although our findings need to be validated on pathological participants, in our healthy population the BCI-based administration did not affect performance and added a further control of the response due to the several variables included and analyzed by the computerized task.

OBJECTIVE The aim of this study was to compare the effects of modified constraint-induced movement therapy (mCIMT; restraint of unaffected limb combined with unimanual intensive rehabilitation) with those of a bimanual intensive rehabilitation treatment (IRP) in children with hemiplegic cerebral palsy after a 10-wk practice vs. standard treatment (ST). DESIGN This study is a multicenter, cluster-randomized controlled clinical trial of tested groups of children with hemiplegic cerebral palsy treated using mCIMT, IRP, or ST. For 10 wks, in mCIMT and IRP, the intensive practice lasted 3 hrs/day, 7 days/wk; in ST, 1-hr sessions twice a week were provided. The primary outcomes are upper limb/hand function (Quality of Upper Extremity Skills Test) and activities of daily living (Besta Scale), which are assessed before and after treatment. One hundred five patients were recruited, 39 to the mCIMT group, 33 to the IRP group, and 33 to the ST group. RESULTS IRP and mCIMT significantly improved paretic hand function both in the Quality of Upper Extremity Skills Test and in the Besta Scale, whereas ST did not. mCIMT improved grasp more than IRP did (P < 0.01), whereas bimanual spontaneous use in play increased more with IRP (P = 0.0005). Activities of daily living in 2- to 6-yr-olds improved more with IRP (P < 0.0001) than with mCIMT (P = 0.011). Unaffected limb improved more from bimanual practice (IRP; P = 0.02). CONCLUSIONS More advantages resulted from intensive practice than in the standard one, in mCIMT for grasp and in IRP for bimanual spontaneous use and activities of daily living in younger children.

Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) are allelic disorders with different clinical presentations and severity determined by mutations in the gene DMD, which encodes the sarcolemmal protein dystrophin. Diagnosis is based on clinical aspects and muscle protein analysis, followed by molecular confirmation. We revised the main aspects of the natural history of dystrophinopathies to define genotype-phenotype correlations in large patient cohorts with extended follow-up. We also specifically explored subjects carrying nucleotide substitutions in the DMD gene, a comparatively less investigated DMD/BMD subgroup. We studied 320 dystrophinopathic patients (205 DMD and 115 BMD), defining muscular, cardiac, respiratory, and cognitive involvement. We also subdivided patients according to the kind of molecular defect (deletions, duplications, nucleotide substitutions or other microrearrangements) and the mutation sites (proximal/distal to exon 45), studying phenotype-genotype correlations for each group. In DMD, mutation type did not influence clinical evolution; mutations located in distal regions (irrespective of their nature) are more likely to be associated with lower IQ levels (p = 0.005). BMD carrying proximal deletions showed a higher degree of cardiac impairment than BMD with distal deletions (p = 0.0046). In the BMD population, there was a strong correlation between the entity of muscle dystrophin deficiency and clinical course (p = 0.002). An accurate knowledge of natural history may help in the clinical management of patients. Furthermore, several clinical trials are ongoing or are currently planned, some of which aim to target specific DMD mutations: a robust natural history is therefore essential to correctly design these experimental trials.

We investigated sequence-learning skills in 64 children with cerebral palsy (aged 4.01-14.7 years; 49 with bilateral, two with dystonic, and 13 with unilateral cerebral palsy), compared with a matched control group of typically developing children. Participants' motor and handling abilities were classified according to the Gross Motor Function Classification System and the Manual Ability Classification System. General cognitive, visuoperceptual, and constructive abilities were assessed. Participants performed an experimental computerized version of Corsi Span, followed by a normalized Supraspan sequence. Controls outperformed cerebral palsy participants in visual memory and accuracy. Participants with cerebral palsy were likelier to fail the test (cerebral palsy, 37.5%; control subjects, 5%) and obtain overall lower scores. Sequence learning skills were not related to motor and handling impairments. Failure to learn sequences resulted in an overall lower functioning profile regarding visuoperceptual, verbal, and performance abilities. The ability to fix sequences seemed to split the cerebral palsy group into an overall high-functioning group (successful in sequence learning) and low-functioning (failing) group. Results are discussed in light of a specific implicit memory impairment and the abnormal development of white matter frontostriatal and parietal connections.

Duchenne muscular dystrophy (DMD) is characterised by progressive loss of muscular strength that leads to an increasingly restrictive pulmonary syndrome. However, it is still not clear whether this determines alterations in the breathing pattern. We studied: 66 DMD patients at different stages of the disease (mean+/- sem age 12.6+/-0.6 yrs, range 5-22 yrs of age), subdivided into four groups according to age; and 21 age-matched healthy male controls. Spirometry, lung volumes and nocturnal oxygen saturation were measured in all DMD patients. Ventilatory pattern and chest wall volume variations were assessed by optoelectronic plethysmography during spontaneous breathing both in seated and supine positions. Whilst in a seated position, no significant differences were found between patients and controls or between different age groups. In the supine position, the average contribution of abdominal volume change (DeltaV(AB)) to tidal volume progressively decreased with age (p0.001). The patients who showed nocturnal hypoxaemia showed significantly lower Delta V(AB). In conclusion, chest wall motion during spontaneous breathing in awake conditions and in supine position is an important indicator of the degree of respiratory muscle impairment in DMD. DeltaV(AB) is not only an important marker of the progression of the disease but is also an early indicator of nocturnal hypoxaemia.

The feasibility and effectiveness of a year-long integrated rehabilitation program for young children (less than 6 years old) with cerebral palsy was evaluated, and efficacy of different treatment schedules was compared. A sample of 40 children (20 male; mean age, 3 years +/-1.22) took part: 20 presented with tetraparesis, 12 with diparesis, and 8 with hemiparesis. Participants' motor abilities were classified according to the Gross Motor Function Measure classification system at baseline and after 1 year of treatment. For half of the participants, treatment consisted of continuous integrated intervention twice a week; for the other half, treatment was the 3i intervention (Intermittent, Intensive, Integrated), in which a month of intensive, twice-a-day treatment was followed by a continuous, twice-a-week phase, lasting 5 months. Overall, there was an improvement in gross motor function, with 37% of children improving and no children showing lowered function. Neither baseline general cognitive abilities nor age had a significant effect on the level of improvement, although initial gross motor function did. Children undergoing the intensive intermittent intervention showed the greatest motor function improvement. Results support the effectiveness of the integrated intervention and of periods of higher frequency intervention in young children.

Limb girdle muscular dystrophies (LGMD) are characterized by genetic and clinical heterogeneity: seven autosomal dominant and 12 autosomal recessive loci have so far been identified. Aims of this study were to evaluate the relative proportion of the different types of LGMD in 181 predominantly Italian LGMD patients (representing 155 independent families), to describe the clinical pattern of the different forms, and to identify possible correlations between genotype, phenotype, and protein expression levels, as prognostic factors. Based on protein data, the majority of probands (n=72) presented calpain-3 deficiency; other defects were as follows: dysferlin (n=31), sarcoglycans (n=32), α-dystroglycan (n=4), and caveolin-3 (n=2). Genetic analysis identified 111 different mutations, including 47 novel ones. LGMD relative frequency was as follows: LGMD1C (caveolin-3) 1.3%; LGMD2A (calpain-3) 28.4%; LGMD2B (dysferlin) 18.7%; LGMD2C (γ-sarcoglycan) 4.5%; LGMD2D (α-sarcoglycan) 8.4%; LGMD2E (β-sarcoglycan) 4.5%; LGMD2F (δ-sarcoglycan) 0.7%; LGMD2I (Fukutin-related protein) 6.4%; and undetermined 27.1%. Compared to Northern European populations, Italian patients are less likely to be affected with LGMD2I. The order of decreasing clinical severity was: sarcoglycanopathy, calpainopathy, dysferlinopathy, and caveolinopathy. LGMD2I patients showed both infantile noncongenital and mild late-onset presentations. Age at disease onset correlated with variability of genotype and protein levels in LGMD2B. Truncating mutations determined earlier onset than missense substitutions (20±5.1 years vs. 36.7±11.1 years; P=0.0037). Similarly, dysferlin absence was associated with an earlier onset when compared to partial deficiency (20.2±standard deviation [SD] 5.2 years vs. 28.4±SD 11.2 years; P=0.014). Hum Mutat 29(2), 258–266, 2008. © 2007 Wiley-Liss, Inc.

The Gait Real-time Analysis Interactive Lab (GRAIL) is an instrumented multi-sensor platform based on immersive virtual reality for gait training and rehabilitation. Few studies have been included GRAIL to evaluate gait patterns in normal and disabled people and to improve gait in adults, while at our knowledge no evidence on its use for the rehabilitation of children is available. In this study, 4 children suffering from acquired brain injury (ABI) underwent a 5 session treatment with GRAIL, to improve walking and balance ability in engaging VR environments. The first and the last sessions were partially dedicated to gait evaluation. Results are promising: improvements were recorded at the ankle level, selectively at the affected side, and at the pelvic level, while small changes were measured at the hip and knee joints, which were already comparable to healthy subjects. All these changes also conveyed advances in the symmetry of the walking pattern. In the next future, a longer intervention will be proposed and more children will be enrolled to strongly prove the effectiveness of GRAIL in the rehabilitation of children with ABI.

Cerebral palsy (CP), one of the most common neurological disorders in childhood, features affected individual's motor skills and muscle actions. This results in elevated heart rate and rate of oxygen uptake during sub-maximal exercise, thus indicating a mean energy expenditure higher than healthy subjects. Rehabilitation, currently involving also robot-based devices, may have an impact also on these aspects. In this study, an ecological setting has been proposed to evaluate the energy expenditure of 4 children with CP before and after a robot-assisted gait training. Even if the small sample size makes it difficult to give general indications, results presented here are promising. Indeed, children showed an increasing trend of the energy expenditure per minute and a decreasing trend of the energy expenditure per step, in accordance to the control group. These data suggest a metabolic benefit of the treatment that may increase the locomotion efficiency of disabled children.

The great potential of robots in extracting quantitative and meaningful data is not always exploited. The aim of the present work is to propose a simple parameter that allows to follow the performance of subjects during upper limb robotic training with no additional effort for patients or clinicians.

Mutations in the brain-specific P/Q type Ca2+ channel α1 subunit gene, CACNA1A, have been identified in three clinically distinct disorders, spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2), and familial hemiplegic migraine type 1 (FHM1). SCA6 is associated with small expansions of a CAG repeat at the 3′ end of the gene, while point mutations are mostly responsible for its two allelic disorders, FHMI and EA2. From the electrophysiological point of view, while FHMI mutations lead to a gain of function [Tottene A, Fellin T, Pagnutti S, Luvisetto S, Striessnig J, Fletcher C, et al. Familial hemiplegic migraine mutations increase Ca(2+) influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons. Proc Natl Acad Sci 99 (20) (2002) 13284–13289.], EA2 mutations usually generate a loss of channel function [Guida S, Trettel F, Pagnutti S, Mantuano E, Tottene A, Veneziano L, et al. Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. Am J Hum Genet 68 (3) (2001) 759–764, Wappl E, Koschak A, Poteser M, Sinnegger MJ, Walter D, Eberhart A, et al. Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia. J Biol Chem 277 (9) (2002) 6960–6966.]. In the present study, we describe a child affected by permanent non-fluctuating limb and trunk ataxia with a quite early age of onset. Interestingly, the size of the CACNA1A triplet repeat region in the patient is within the normal range while he carries a novel de novo missense mutation in this gene, p.R1664Q. Although functional data are not available, based on the literature data indicating that severe reductions in P/Q-type channel activity favour episodic and/or progressive ataxic symptoms [Wappl E, Koschak A, Poteser M, Sinnegger MJ, Walter D, Eberhart A, et al. Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia. J Biol Chem 2002;277(9):6960–6966.], we hypothesize that the functional consequence of the mutation here identified is a partial loss of the Ca channel function. In conclusion, the clinical and molecular findings reported here suggest the opportunity to screen for point mutation in this gene, even patients with a clinical phenotype for some aspects slightly different from the typical picture more commonly associated to SCA6, EA2 or FHM1 diseases.

In clinical practice, the great potential of robots in extracting quantitative and meaningful data is not always exploited. The aim of the present paper is to propose a simple parameter that allows to follow the performance of subjects during upper limb robotic training with no additional effort for patients or clinicians. Armeo®Spring has been used to perform a training on 14 children affected by cerebral palsy (CP). Each session was evaluated with the new parameter allowing us to observe variations in subjects' performance over time. A preliminary validation of the parameter was performed by means of Melbourne clinical scale. Further studies are required to compare the results with kinematics data and other clinical scales.

Movements of the lower limbs during walking have been widely investigated in literature, while quantification of arm movement during gait is scanty. The aim of the present study was to assess quantitatively the upper limb motion during gait in children with Cerebral Palsy (CP). Sixteen children with diplegic CP were evaluated using a full-body marker set, which allows assessing both the lower and upper limb kinematics. Our results demonstrated that movement of the arms was characterized by an abducted shoulder and a more flexed elbow position at the initial contact of the gait cycle with a quite physiological range of motion if compared to controls. These data showed that gait of children with diplegic CP is generally characterized by abnormal upper limb position which could be considered a strategy to keep balance and posture control during walking.

Using resting state (RS) functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI), we identified the predictors of clinical improvement following constraint-induced movement therapy (CIMT) in pediatric patients with chronic hemiplegia.From 14 children with congenital or acquired brain injury and 10 sex- and age-matched healthy controls, brain dual-echo, DTI and RS fMRI sequences were acquired before CIMT. The Quality of Upper Extremities Skills Test and the Gross Motor Function Measure (GMFM) were administered at baseline, at the end of CIMT (10 weeks), and after 6 months. Mean diffusivity and fractional anisotropy (FA) were measured in the lesion responsible for the clinical symptomatology, the affected and unaffected corticospinal tract (CST), motor transcallosal fibers, and uncinate fasciculus (as an internal control). Independent component analysis was used to identify the sensorimotor RS network. The ability of baseline MRI variables to predict clinical changes over time was assessed using multivariate linear models. At baseline, patients had increased mean diffusivity in the symptomatic lesion and decreased FA in the symptomatic lesion, affected corticospinal tract, and motor transcallosal fibers. A reduced RS functional connectivity was found in the bilateral cerebellum, left precentral gyrus, and right secondary sensorimotor cortex. At follow up, Quality of Upper Extremities Skills Test and GMFM scales improved significantly. Baseline average lesion FA predicted clinical improvement at week 10, and baseline functional connectivity of the right secondary sensorimotor cortex and cerebellum predicted GMFM improvement at month 6. DTI and RS fMRI offer promising and objective markers to predict clinical outcomes following CIMT in pediatric patients with congenital or acquired hemiplegia.

To study the development of sequence memory skills in a group of participants with Spastic Bilateral Cerebral Palsy (CP) and their matched controls (TD). Sequence memory skills are defined as a blend of implicit and explicit competences that are crucial for the acquisition and consolidation of most adaptive skills along the lifespan.A computerized sequence learning task was administered to 51 participants with CP (age range: 4.1-14.7) and their controls. General performance, accuracy and learning strategy were analyzed, as well as cognitive competencies (IQ and explicit visual spatial memory).Explicit learning developed along with age in all participants. Sequence learning skills were age independent and unevenly distributed among CP participants: most TD (96.1%) and only about half (58.8%) of CP participants succeeded in sequence learning, in dynamic relation with cognitive and manipulation abilities.Sequence memory skills should be verified to plan therapeutic strategies. Therapeutic plans based on implicit learning (more resistant to disruption and stress) could be effective and highly advantageous for most but not for all CP children. Independently from age, many CP children could fix sequences more efficiently by explicit strategies, a more effortful but probably more effective way.

The purpose of this study was to evaluate if adding paediatric robotic-assisted gait training (RAGT) to task-oriented physiotherapy (TOP) in children with Cerebral Palsy (CP) could improve gross motor abilities and gait compared to intensive TOP. Nineteen ambulatory children with Bilateral Spastic CP were assigned to two 10-week training groups. 9 children had 20 sessions of RAGT and 20 sessions of TOP, the other 10 children had 40 sessions only of TOP. The Gross Motor Function Measure, 6-Minute Walk Test and 3D Gait Analysis were assessed prior to, at the end of, and 3 months after the end of the treatment. After the training and during the follow up, both groups improved their Gross Motor Function Measure scores, maintained their gait pattern and had unchanged 6-Minute Walk Test results. No between group differences were found in any outcome measures. In conclusion, compared to intensive TOP alone, the addition of RAGT to TOP was demonstrated to be equally effective at improving gross motor abilities and maintaining gait pattern over time. The robotic rehabilitation allows care-providers to administer a standardized, controlled, dosed therapy, and appears to increase patient's motivation.

A group of 42 Italian boys with Duchenne Muscular Dystrophy was compared with a control group of 10 boys with Spinal Muscular Atrophy and Osteogenesis Imperfecta on tests assessing general intellectual ability, language, neuropsychological functions, and reading skills with the aim of describing a comprehensive profile of the various functions and investigating their interrelationships. The influence of general intellectual level on performance was analyzed. Further, correlations between various neuropsychological measures and language performances were computed for the group with Duchenne Muscular Dystrophy, as well as the correlations between reading scores and other cognitive and linguistic measures. A general lowering in VIQ, PIQ, and FSIQ scores was found to characterize the group with Duchenne Muscular Dystrophy. Expressive language skills were within the normal range, while syntactic and grammatical comprehension were significantly impaired. The presence of below-average reading performances was further confirmed. However, unlike previous studies on irregular orthographies, the present results show that (a) the mild reading difficulties found in the sample essentially concern speed rather than accuracy; (b) they concern word rather than nonword reading; (c) lower reading performances are related to lower scores in general IQ; (d) no correlations emerge with phonological abilities, verbal short-term memory, or working memory, but rather with long-term memory and lexical skills. This may suggest that language-specific effects modulate the cognitive expressions of Duchenne Muscular Dystrophy and raises the possibility that the dysfunctions underlying the reading difficulties observed in affected readers of regular orthographies involve different neurocognitive systems than the cortico-cerebellar circuits usually invoked.

Background Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by bone fragility, multiple fractures and significant chest wall deformities. Cardiopulmonary insufficiency is the leading cause of death in these patients. Methods Seven patients with severe OI type III, 15 with moderate OI type IV and 26 healthy subjects were studied. In addition to standard spirometry, rib cage geometry, breathing pattern and regional chest wall volume changes at rest in seated and supine position were assessed by opto-electronic plethysmography to investigate if structural modifications of the rib cage in OI have consequences on ventilatory pattern. One-way or two-way analysis of variance was performed to compare the results between the three groups and the two postures. Results Both OI type III and IV patients showed reduced FVC and FEV1 compared to predicted values, on condition that updated reference equations are considered. In both positions, ventilation was lower in OI patients than control because of lower tidal volume (p

We studied respiratory function and Chest Wall kinematics in a large population of adult patients affected by slow course muscular dystrophies such as Limb-Girdle Muscular Dystrophy (LGMD, n=38), Becker Muscular Dystrophy (BMD, n=20) and Facio-Scapulo Humeral Dystrophy (FSHD, n=30), through standard spirometry and through the Optoelectronic Plethysmography, to measure the thoraco-abdominal motion during Quiet Breathing and Slow Vital Capacity maneuvers. Within the restrictive pulmonary syndrome characterizing LGMD and FSHD, several different thoraco-abdominal patterns compared to those of healthy subjects were present in the more advanced stages of the disease. These differences were present in the seated position, during the execution of a maximal maneuver such as Slow Vital Capacity. A global respiratory (both inspiratory and expiratory) muscle involvement was more pronounced in the LGMD and FSHD than in the BMD patients, and a significant reduction of abdominal contribution in wheelchair bound patients was observed. In conclusion, OEP technique is able to reveal mild initial modifications in the respiratory muscles in FSHD and LGMD patients, which could be helpful for functional and new therapeutic strategy evaluation.

Brain-Computer Interfaces (BCIs) are systems which can provide people affected by severe neuromuscular diseases with a new and easy way to communicate with the world. The aim of this study is to use a new administration method based on BCI technology to assess cognitive ability in disabled people. The protocol was applied on 15 subjects who can't or have difficult using traditional paper based test. The method, based on a SSVEP BCI system, was previously validated on 20 healthy subjects. The previous validation and the test results on disabled patient show the reliability of BCI in administering cognitive test; BCI doesn't affect results but adds further data that can be used to analyze other cognitive tasks in addition to those measured by the test.

Objective To report on the first case of ziconotide-induced dyskinesia. Ziconotide, a synthetic peptide analogue of the ω-conotoxin MVIIA that blocks selectively N-type voltage-sensitive calcium channels, has been used in intrathecal administration for 30 years. Ziconotide is a drug of choice for chronic pain because of its efficacy and flexibility because it can substitute or complement other intrathecal therapies including morphine or baclofen. Whereas substantial information is available regarding its efficacy, systematic data regarding the safety of ziconotide remain scant. The adverse reactions to ziconotide described so far regard only the coordination and execution of intentional movements. Case Report A 15-year-old male patient developed dyskinesia affecting the head and upper limbs 2 days after administration of ziconotide as an add-on therapy to an established regimen of treatment with baclofen. The strict temporal relationship between ziconotide administration and dyskinesia, together with the absence of any other clinical alteration, led to the hypothesis of a possible adverse drug reaction. Ziconotide was thus withdrawn, and the symptoms disappeared within 2 days. Conclusions An analysis of the signaling pathways of baclofen and ziconotide revealed a possible drug interaction that allowed ziconotide to trigger dyskinesia.

NiTi is a metal alloy with unconventional functional characteristics: Shape memory and pseudoelasticity. Its use in the field of rehabilitation is very innovative. This work presents applications in lower limb orthotics. Three different devices were assembled and tested: An equinus gait dynamic splint, a compliant ankle positioning brace, and a dual-mode haptic/active exerciser for the dorsiflexors. Results are derived from technical and preclinical trials. The gait splint improves several walking parameters even better than a traditional flexible ankle-foot orthoses (AFO). In particular, it supports mid-stance and propulsion biomechanics and affects physiological activation of tibialis anterior during swing much less than posterior leaf AFO. The haptic/active exerciser, able to provide dorsiflexion through a suitable articular range, could be controlled on the basis of minimal surface electromyographic (sEMG) signals, suggesting its use as an aid for early active workouts as soon as patients start to recover voluntary control of tibialis anterior. Further evidence must be sought in future to confirm for the ankle joint the promising results obtained in repositioning applications in prior upper limb studies. The work done so far on the tested prototypes is encouraging: Material characteristics and dimensioning will be optimized so that customized NiTi devices can be prescribed to best meet individual patients' requirements.

The aims were: (1) to quantify the functional limitation of children at the beginning of recovery of independent ambulation after Traumatic Brain Injury (TBI), using clinical-functional scales; (2) to evaluate the changes in gait pattern during rehabilitation (about 5 months later), using 3D Gait Analysis (GA) in post-acute phase; (3) to investigate the presence of correlation among parameters obtained by 3DGA, clinical assessment and measures connected with the trauma.Fourteen children with hemiplegia after severe TBI were evaluated at independent gait recovery (S0) and 5.5 months later (S1) by clinical assessment (GOS, DRS, WeeFIM and GMFM) and 3D GA (spatio-temporal parameters, kinematics and kinetics).At S1 all clinical measures had improved. Regarding spatio-temporal parameters, velocity and step length improved. Significant progress was evident at the ankle joint, while an unchanged condition appeared at pelvis and hip in sagittal plane with a worsening of hip rotation which increased its internal rotation. Significant correlations were found between motor performance, clinical assessment and trauma-related measures.Repeated GA and clinical evaluations were useful in quantifying the motor recovery of children with TBI during rehabilitation underpinning the role of GA in quantifying these modifications in an objective and non-invasive way.

The aim of the study was to determine the possible correlation between the degree of femoral anteversion and the quantitative data obtained by 3D Gait Analysis (GA) and then to investigate the relationship between femoral anteversion and the reduced knee flexion during swing phase in children with Cerebral Palsy. Twenty-seven diplegic children with severe rectus femoris spasticity and 20 healthy children (CG) were considered. Clinical evaluation of femoral anteversion, Duncan Ely test and Gait Analysis were performed in all patients. From Gait Analysis data some indices were identified and calculated and statistical analysis performed. Clinical evaluations made the distinction between patients with excessive femoral anteversion (Group 1) and those with normal value (Group 2). Both groups showed a blunt maximum of knee flexion in swing (KMSw), representative of rectus femoris spasticity, but two different gait strategies were found for the timing of KMSw. Group 1 exhibited a reduced KMSw value with its timing close to normal value and an excessive hip internal rotation (Mean Hip Rotation index), correlated to high femoral anteversion; Group 2 presented a limited KMSw and a significant delay of its timing, with Mean Hip Rotation index close to Control Group. No differences were found for other indices. The results demonstrated that the presence of reduced KMSw only can be directly connected to excessive femoral anteversion; the coexistence of reduced KMSw and its delayed timing reveals that the rectus femoris spasticity may be due to rectus spasticity added to an incorrect motor selective control. The results are clinically crucial for treatment strategies (derotative femoral osteotomy vs rectus transfer).