Speech and Language Disorders in Friedreich Ataxia: Highlights on Phenomenology, Assessment, and Therapy.

Speech and language disorders are prominent signs in Friedreich ataxia (FRDA), which significantly impact on patients' quality of life. Despite such relevance, several issues regarding phenomenology, assessment, and treatment are still unmet. In this short review, we thus analyzed the existing literature to summarize what is known about the features of speech and language disorders in FRDA, which methods are used for evaluation and rating, and what are the available therapeutic strategies and future direction of scientific research in this field, in order to highlight critical aspects for a better clinical approach to the problem. FRDA patients often present dysarthria, resulting from central and peripheral causes and additional primary language disorders. Speech disturbances have peculiar characteristics, although variable among patients, and progress along the disease course. Assessment relies on multiple but not specific clinical scales, some of which can also reflect the general severity of ataxia; classical instrumental investigations and novel technologies allow more accurate measurements of several speech parameters, which could found application as potential disease's biomarkers. No successful treatments exist for communication disorders of FRDA patients; however, the tailored speech training or the non-invasive neuromodulation appear as the most reliable therapeutic options to be validate in future trials.

Development of SaraHome: A novel, well-accepted, technology-based assessment tool for patients with ataxia.

BACKGROUND AND OBJECTIVE: Early onset ataxias (EOAs) are a heterogeneous group of neurological conditions, responsible for severe motor disability in paediatric age, which still lack reliable outcome measures. Available scales to assess ataxia, such as the Scale for Assessment and Rating of Ataxia (SARA), are based on subjective assessment of specific motor and language tasks by an examiner, and therefore is age dependent and lacks accuracy in detecting small variations in disease severity. In last years, novel technologies, including computer interfaces and videogames, have emerged for clinical applications and the advent of Internet of Medical Things and of Information Communication Technology have allowed the remote control of such technologies. This pilot study describes a newly developed tool (SaraHome) for the assessment at home of EOA evaluating its feasibility and acceptability on a small sample of children. METHODS: Ten EOA children and ten caregivers have been enrolled for a preliminary outpatient evaluation. The Microsoft Kinect 2.0 and Leap Motion Controller (LMC) connected to a personal computer with an ad hoc software have been set-up, for the acquisition of standardized motor tasks performed by the patients with the caregivers' assistance. Acceptance and practicability have been tested by QUEST 2.0 and IMI questionnaires in caregivers and patients respectively. RESULTS: The SaraHome software was developed, based on a collection of services provided by a complex architecture that consists of a Restful interface, which enables to access a series of plugins for the execution of different tasks. A graphical user interface allows the acquisition of the patient movements while performing a motor task. A protocol of standard tasks inspired by SARA was established, and a system of video-assisted instruction provided. The set-up for the optimal acquisition of such protocol by Kinect and LMC has been defined. Both patients and caregivers accomplished the SaraHome assessment with good feedback at the technology acceptance questionnaires. CONCLUSIONS: SaraHome represents a newly developed tool for the assessment of ataxia in patients, resulting from the integration of low-cost and easy-accessible technologies. This pilot application highlighted the feasibility and the acceptability of the system, suggesting the potential use in clinical practice.

Evaluation of gait in Duchenne Muscular Dystrophy: Relation of 3D gait analysis to clinical assessment.

Walking ability in Duchenne Muscular Dystrophy (DMD) deteriorates progressively until complete loss of the function. Interventions aimed at maintaining ambulatory ability relies on accurate clinical-based scores and evaluations of walking. This kind of assessment has intrinsic limitations. A 3D optoelectronic system could provide elements useful for the functional evaluation of patients with DMD. Nineteen boys with DMD were evaluated using the 6-Minutes Walking Test, North Star Ambulatory Assessment and 3D gait analysis. Participants' gait parameters were compared to those of an age-matched control group and correlated with standard clinical scores. Seventeen kinematic variables differed between DMD and control groups. Strong correlations with North Star Ambulatory Assessment were found for stride width, gait velocity and ankle angles on the sagittal plane. The 6-Minutes Walking test did not correlate with investigated kinematic variables but showed a correlation with North Star Ambulatory Assessment. Our data support the reported DMD gait pattern characterized by increased anterior pelvic tilt and ankle plantar flexion. The stride width and ankle kinematics emerged as the main representative gait parameters of DMD global ambulatory status. Although preliminary, our findings suggest that 3D gait analysis may provide useful objective and accurate parameters reflecting the functional ability of individuals with DMD.

A wearable gait analysis protocol to support the choice of the appropriate ankle-foot orthosis: A comparative assessment in children with Cerebral Palsy.

BACKGROUND: Cerebral Palsy is, nowadays, the most common cause of pediatric disabilities, particularly debilitating for daily living activities. While the adoption of ankle-foot orthoses is very well established as gait treatment, the choice of the most appropriate orthotic configuration is not strongly supported by scientific evidence. The aim of this study was to develop an instrumented assessment protocol based on wearable gait analysis to support clinicians in ankle-foot orthoses configuration selection. METHODS: Ten children with spastic diplegic Cerebral Palsy were assessed (7 males, aged 4 to 11 years; all functionally classified as Gross Motor Function Classification System I or II, with clinical indication of conservative treatment through use of ankle-foot orthoses). They performed a 10Meter Walk Test in three conditions: barefoot and wearing alternatively a polypropylene hinged and solid ankle-foot orthosis accommodated in the same off-the-shelf shoe model, after 20 days of daily use of each configuration. An instrumented assessment protocol based on body-mounted magneto-inertial sensors was devised to derive spatio-temporal, gait stability and symmetry biomechanical parameters within an observational pre and post cross over design. FINDINGS: The analysis at the individual level quantitatively revealed how different patients benefited differently from the two orthoses. No general indications were obtained in favour of or against a specific configuration for the sample as a whole. INTERPRETATION: The proposed instrumented protocol represents a quantitative and useful tool to support the clinical selection of an appropriate orthotic treatment and, potentially, in evaluating its effectiveness.

Longitudinal gait assessment in a stiff person syndrome.

Stiff person syndrome (SPS) is an autoimmune disorder with multiple clinical presentations, all characterized by generalized or focal muscular stiffness leading to abnormal postures and movements. To date, no standardized treatments are available; also, the outcome measures are mainly clinical based and unstandardized, limiting the reliability of clinical trials. In this case study, we used the eight-camera motion capture system for gait analysis (GA) to outline the gait features and track the clinical evolution of a young patient with SPS receiving a personalized multimodal therapy. GA was accurate in reflecting clinical changes over a 7-week-long period, thus representing a potential source for objective biomarkers in SPS. Therefore, future studies focusing on either the natural history or the treatment of SPS could adopt GA for reliable outocome measures, confirming this preliminary observation.

Service provision for children and young people with acquired brain injury: Practice recommendations.

BACKGROUND: Providing appropriate rehabilitation services for Acquired Brain Injury (ABI) in childhood presents a number of challenges for caregivers, health and education professionals and the young person as they develop. PRIMARY OBJECTIVE: To record the challenges and possible creative solutions generated by an international group of professionals to address the needs of children with ABI. Review of information: Recommendations were generated from children's special interest group meetings of the International Brain Injury Association (Turin, Italy, 2001; Stockholm, Sweden, 2003; Melbourne, Australia, 2005; Lisbon, Portugal, 2008) and through meetings of the International Paediatric Brain Injury Society (IPBIS), formed in 2009. Delegates participating in the workshops were representative of nations from around the world and included The Netherlands, New Zealand, Australia, the UK, Finland, Germany, South Africa, the US, Canada, Sweden, Brazil and Italy. OUTCOMES: The information presented is based on a retrospective review of those meetings and the summaries of the topics considered.

Functional and Gait Assessment in Children and Adolescents Affected by Friedreich's Ataxia: A One-Year Longitudinal Study.

Friedreich's ataxia is the most common autosomal recessive form of neurodegenerative ataxia. We present a longitudinal study on the gait pattern of children and adolescents affected by Friedreich's ataxia using Gait Analysis and the Scale for the Assessment and Rating of Ataxia (SARA). We assessed the spectrum of changes over 12 months of the gait characteristics and the relationship between clinical and instrumental evaluations. We enrolled 11 genetically confirmed patients affected by Friedreich's ataxia in this study together with 13 normally developing age-matched subjects. Eight patients completed a 12-month follow-up under the same protocol. By comparing the gait parameters of Friedreich's ataxia with the control group, we found significant differences for some relevant indexes. In particular, the increased knee and ankle extension in stance revealed a peculiar biomechanical pattern, which correlated reliably with SARA Total, Gait and Sitting scores. The knee pattern showed its consistency also at the follow-up: Knee extension increased from 6.8±3.5° to -0.5±3.7° and was significantly correlated with the SARA total score. This feature anticipated the loss of the locomotor function in two patients. In conclusion, our findings demonstrate that the selective and segmental analysis of kinetic/kinematic features of ataxic gait, in particular the behavior of the knee, provides sensitive measures to detect specific longitudinal and functional alterations, more than the SARA scale, which however has proved to be a reliable and practical assessment tool. Functional outcomes measures integrated by instrumental evaluation increase their sensitivity, reliability and suitability for the follow-up of the disease progression and for the application in clinical trials and in rehabilitative programs.

Outpatient assessment of neurovisual functions in children with Cerebral Palsy.

This study examined the feasibility of the Atkinson Battery for Child Development for Examining Functional Vision (Atkinson, Anker, Rae, et al., 2002) to evaluate neurovisual functions of children with neurodevelopmental disorders in outpatient setting. A total of 90 patients underwent a comprehensive evaluation. Among these, a group of 33 children with Cerebral Palsy (CP), mean age 6 years, with different types of CP (26% diplegic, 37% hemiplegic and 37% tetraplegic) were selected to constitute the cohort of the study. Visual sensory measures as well as higher level visual functions were considered. Overall, 73% patients had impairments at the assessment protocol, the majority of which presenting difficulties on both visuoperceptual and visuospatial tasks (79%). Subgroups of participants presented similar profiles of impairments with spared basic visuocognitive abilities and limitations in visuoperceptual and visuospatial domains. The Atkinson's battery proved to be valuable for evaluation in outpatient setting and follow-up testing. Some limitations emerged. For the definition of personalized and detailed rehabilitation programs a breakdown of the different components of vision and subsequent in-depth evaluation are needed.