Friedreich's ataxia (FRDA) is a rare hereditary neurodegenerative disorder caused by a GAA repeat expansion in the FXN gene. There is still no cure or quantitative biomarkers reliaby correlating with the progression rate and disease severity. Investigation of functional and structural alterations characterizing white (WM) and gray matter (GM) in FRDA are needed prerequisite to monitor progression and response to treatment. Here we report the results of a multimodal cross-sectional MRI study of FRDA including Voxel-Based Morphometry (VBM), diffusion-tensor imaging (DTI), functional MRI (fMRI), and a correlation analysis with clinical severity scores. Twenty-one early-onset FRDA patients and 18 age-matched healthy controls (HCs) were imaged at 3T. All patients underwent a complete cognitive and clinical assessment with ataxia scales. VBM analysis showed GM volume reduction in FRDA compared to HCs bilaterally in lobules V, VI, VIII (L>R), as well as in the crus of cerebellum, posterior lobe of the vermis, in the flocculi and in the left tonsil. Voxel-wise DTI analysis showed a diffuse fractional anisotropy reduction and mean, radial, axial (AD) diffusivity increase in both infratentorial and supratentorial WM. ROI-based analysis confirmed the results showing differences of the same DTI metrics in cortico-spinal-tracts, forceps major, corpus callosum, posterior thalamic radiations, cerebellar penduncles. Additionally, we observed increased AD in superior (SCP) and middle cerebellar peduncles. The WM findings correlated with age at onset (AAO), short-allelle GAA, and disease severity. The intragroup analysis of fMRI data from right-handed 14 FRDA and 15 HCs showed similar findings in both groups, including activation in M1, insula and superior cerebellar hemisphere (lobules V–VIII). Significant differences emerged only during the non-dominant hand movement, with HCs showing a stronger activation in the left superior cerebellar hemisphere compared to FRDA. Significant correlations were found between AAO and the fMRI activation in cerebellar anterior and posterior lobes, insula and temporal lobe. Our multimodal neuroimaging protocol suggests that MRI is a useful tool to document the extension of the neurological impairment in FRDA.

Objective. Juvenile Idiopathic Arthritis (JIA) is the most common chronic pediatric rheumatic disease. It is recognized that only reliance on clinical signs of disease outcome is inadequate for understanding the impact of illness and its treatment on child's life and functioning. There is a need for a multidisciplinary and holistic approach to children with arthritis which considers both physical and emotional functioning. This study investigated the psychosocial functioning of children and adolescent with JIA and the disease-related changes in their family. Methods. The sample consisted of 33 hospitalized patients, aged 6–16 years. Both parents and the children were given a number of questionnaire to fill out. Clinical information was extracted from the interviews. Results. Self-reported psychological functioning (depression, anxiety, and behavior) was not different from the normal population; however significant psychological suffering was detected by the clinical interview. Conclusions. Children and adolescents with JIA do not show overt psychopathology by structured assessment; nevertheless a more clinically oriented holistic approach confirms JIA as a disrupting event causing relevant changes in the quality of life of the affected families.

ICF-CY may work as a road-map for in-hospital paediatric neuro-rehabilitation. Its implementation results in perceived improvements in the process. Training requirements and accurate evaluation of timing, workload and organizational context are critical issues that should be addressed before results from the present experience are generalized.

The objective is to present training on the International Classification of Functioning, Disability and Health (ICF) prepared by the Disability Italian Network (DIN) and to present strategies of ICF dissemination in Italy. A description of DIN's training methodology, prepared in collaboration with World Health Organization (WHO) experts, is provided within its practical applications in health, labour, rehabilitation and statistical sectors. The ICF-DIN Basic Course is eight hours long and focuses on ICF basic principles, structure and application in different settings. The ICF-DIN Advanced Course, three days long followed by three months of distance learning, assumes Basic Course completion, and focuses also on ICF-checklist's coding and WHO-DAS II administration. The first training courses' outcomes, held in Italy and addressed to health, social and labour professionals, are provided. The feedback received by participants at the end of the courses showed that the main mistake they made was to consider ICF as an assessment instrument. The ICF-DIN training course was crucial in explaining the correct use of the ICF as a classification and to show its impact and usefulness on daily practice, particularly in multidisciplinary teams. The ICF-DIN courses already carried out in Italy show that this teaching methodology teaches how to avoid incomplete applications, simplification and misunderstanding of ICF's complexity.

Purpose of the article is to report on 5 years of ICF training experiences in Italy aimed at promoting a consistent approach to ICF's field application. More than 7000 persons participated in around 150 training events: almost half were organised by political bodies, at national, regional or local level, directly linked to implementation experiences. Few training events were organised by the school sector, while training commissioned by NGOs represent a relevant area and, in our opinion, constitute the first step towards a full inclusion of persons with disabilities. Central pillars of our training modules are: the inclusion of all ICF components in the description of functional profiles, the need of providing brief theoretical background information before moving to practical aspects and the importance of providing personalised face to face training modules, in contrast to self-administered learning modules, or web-based protocols. On the basis of our experience, we can conclude that training's objectives are generally reached: trainees improved their knowledge of the ICF and its related tools, and are able to begin practical applications in their contexts.