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Abstract Background In 2020 the world faced the spread of the coronavirus infection disease (Covid-19). This was a general public health emergency but many people with disabilities might have been particularly affected. Objective This paper aims to investigate the impact of the Covid-19 pandemic on children with Cerebral Palsy (CP) and their families. Methods 110 parents of children with CP (aged 2 to 19) who completed a questionnaire were included. These children were under the care of one of the Italian Children Rehabilitation Centers. Socio-demographic and clinical information about patients and their families were collected. In addition, difficulties on adopting protective measures and in respecting lockdown rules by children were explored. We adopted the ICF (International Classification of Functioning, Disability and Health) framework to create multiple choice questions. Descriptive statistics were reported and logistic regression analyses were run in order to identify the predictors of perceived impairment in motor, speech, manual and behavioral abilities. Results Daily activities of children, as well as rehabilitation and fitness sessions, underwent a change during the pandemic. Spending more time with family due to lockdown measures, has had, in some cases a positive effect however there was a perceived decrease in rehabilitation support and school activities. The age range (between 7 and 12 years) and difficulty in respecting rules emerged as significant predictors of the perceived impairment due to Covid-19 pandemic. Conclusions The pandemic has had different impacts on children and their families on the basis of children’s characteristics. Rehabilitation activities during a hypothetic lockdown should consider these characteristics.

BackgroundPatients with cerebral palsy (CP) have an increased risk of developing mental health disorders.AimsThis paper is aimed to investigate the occurrence of psychiatric symptoms in adults with CP and to explore the relation between clinical and psychosocial variables.Methods and proceduresWe included 199 adults with a diagnosis of CP. The chi-square and the Mann-Whitney U tests were used to compare clinical and psychosocial variables, the level of perceived disability, and the type of observed parental style in patients with and without psychiatric symptoms. Logistic regression analysis was used to identify variables that could predict the occurrence of mental health disorders.Outcome and resultsAnxiety and psychosis were the most represented disorders. Age, living status, assumption of drugs, motor, manual, and global impairment were significantly different between patients with and without psychiatric symptoms. Similarly, a different parental style was observed between the two groups. Logistic regression indicated that living status, prescribed drugs, parental style, and the perceived disability in getting along with others predicted the occurrence of psychiatric symptoms.Conclusions and implicationsResults suggest that patients with and without psychiatric symptoms have different clinical and psychosocial characteristics. Some variables should be considered as potentially affecting the mental health of patients with CP.

Background: To describe trends observed across thirty years in demographic and clinical characteristics and rehabilitation of patients with bilateral cerebral palsy. Methods: This retrospective study includes 464 (261 M and 203 F) inpatients with bilateral cerebral palsy, born from 1967 to 1997 and discharged from an outpatient rehabilitative facility from 1985 to 2015. Data concerning the health profile were collected from medical reports and organized in the domains of Body Functions and Structure; Activity and participation and Personal and Environmental factors as proposed in the International Classification of Functioning Disability and Health (ICF). The trend observed over the three birth decades was discussed. Results: The duration of the rehabilitative treatment decreased across decades approximately by two years per decade (from an initial 16.2 yrs to 12.3 yrs). Across the decades the rate of quadriplegia decreased, whereas rates of diplegia increased; spasticity was the prevalent observed motor type for all decades. The most frequent musculoskeletal disorder involved the middle inferior part of the body; among comorbidities a steady decrease in psychiatric disorders was found. With respect to the first decade a slight improvement was observed in the gross motor functioning and in the hand dexterity. No particular trend was observed concerning communication abilities. An increase in the use of pharmacological and surgical treatments for motor symptoms was observed. Conclusion: This study presents and describes the functioning of a large sample of Italian patients with bilateral CP on the basis of the ICF framework and it discussed the trend observed across decades.

Friedreich's ataxia (FRDA) is an inherited neurodegenerative movement disorder with early onset, widespread cerebral and cerebellar pathology, and no cure still available. Functional MRI (fMRI) studies, although currently limited in number, have provided a better understanding of brain changes in people with FRDA. This systematic review aimed to provide a critical overview of the findings and methodologies of all fMRI studies conducted in genetically confirmed FRDA so far, and to offer recommendations for future study designs. About 12 cross-sectional and longitudinal fMRI studies, included 198 FRDA children and young adult patients and, 205 healthy controls (HCs), according to the inclusion criteria. Details regarding GAA triplet expansion and demographic and clinical severity measures were widely reported. fMRI designs included motor and cognitive task paradigms, and resting-state studies, with widespread changes in functionally activated areas and extensive variability in study methodologies. These studies highlight a mixed picture of both hypoactivation and hyperactivation in different cerebral and cerebellar brain regions depending on fMRI design and cohort characteristics. Functional changes often correlate with clinical variables. In aggregate, the findings provide support for cerebro-cerebellar loop damage and the compensatory mechanism hypothesis. Current literature indicates that fMRI is a valuable tool for gaining in vivo insights into FRDA pathology, but addressing that its limitations would be a key to improving the design, interpretation, and generalizability of studies in the future.

Magnetic resonance spectroscopy (MRS) is a non-invasive neuroimaging technique used to investigate in vivo brain metabolites. MRS could provide a sensitive tool for the study of hereditary spastic paraplegia (HSP) by helping to unveil the underlying biochemical mechanisms and monitoring response to treatment. This focused systematic review aimed to summarize the brain metabolite findings in studies performed in genetically determined HSP. The second aim was to provide a critical analysis and recommendations for well-designed protocols for future studies. Fourteen MRS studies have been analyzed with overall 61 HSP patients, falling within a wide range of age at onset, disease duration, and age at the MRS scan, including children and adults. The genetic diagnosis included several subtypes (SPG2/3/4/5/10/11/28/31/54). SPG11 and SPG54 have been more frequently investigated. The MRS methodology included different MR field strength, not easily comparable spectra areas varying from whole brain to various cortical areas, brain stem and cerebellum sampling. No consistency in disease severity and other outcome measures was observed. The main MRS findings corresponded to the white matter metabolite abnormalities in the corticospinal tracts. In summary, this focused review provides insights on the current knowledge of brain metabolites in HSP and, in particular, in SPG11 and SPG54. Despite the inhomogeneity of the studies to date reported, brain metabolites as assessed by MRS could represent potentially useful diagnostic markers and prognostic indicators of disease progression in HSP. Specific recommendations regarding the MRS technical protocol, CNS area sampling, study design, and applicability of findings are given.

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.