New Insights into the Neuropsychological Profile and Intellectual Quotient Variability in Joubert Syndrome Compared to Other Congenital Cerebellar Malformations.

The neuropsychological characteristics of the cerebellar cognitive affective syndrome (CCAS) in congenital, non-progressive malformations of the cerebellum have been scarcely investigated, and even less is known for Joubert syndrome (JS), an inherited, non-progressive cerebellar ataxia characterized by the so-called molar tooth sign. The few studies on this topic reported inconsistent results about intellectual functioning and specific neuropsychological impairments. The aim of this research is to examine the neuropsychological profile of JS compared to other congenital cerebellar malformations (CM), considering individual variability of intellectual quotient (IQ) in the two groups. Fourteen patients with JS and 15 patients with CM aged 6-25 years were tested through a comprehensive, standardized neuropsychological battery. Their scores in the neuropsychological domains were inspected through descriptive analysis and compared by mean of MANOVA and ANOVA models, then replicated inserting IQ as covariate. The two groups showed a largely overlapping neuropsychological profile, consistent with CCAS. However, the JS group showed worse performance in visual-spatial memory compared to CM patients, although this difference was mitigated when considering IQ. These findings highlight a divergence between JS and other CM in visual-spatial memory, which might suggest a critical role of the cerebellum in recalling task-relevant memories and might inform rehabilitative interventions.

Implementation of paediatric intensive care unit diaries: Feasibility and opinions of parents and healthcare providers.

BACKGROUND: The implementation of paediatric intensive care unit (PICU) diaries has been reported as feasible in routine care. To date no feasibility study has compared PICU healthcare providers' (HCPs) and parents' opinions on this tool. OBJECTIVES: The aim of this study is to describe the feasibility and perception of PICU diaries in an Italian PICU from the point of view of parents and HCPs. METHODS: This is a single-centre, prospective, observational study conducted in a tertiary care paediatric hospital from August 2020 to May 2021. Children admitted to the emergency department PICU, intubated, and sedated for ≥48 h were enrolled. To explore their perceptions and attitudes with the PICU diary, parents were interviewed at 30 days from their child's discharge from the PICU, whereas PICU HCPs were surveyed at the end of the study. Data were analysed as proportions for categorical variables and means and medians for continuous variables according to the distribution, whereas qualitative data were summarised in categories by two independent researchers. RESULTS: Twenty families were enrolled in this study. A total of 275 daily PICU diary entries were collected. Children's median age was 9 years (interquartile range = 2-13.25), and the length of stay ranged from 6 to 39 days. PICU diary applicability was rated high by parents and HCPs (>8 on a 1-10 Likert scale). Parents and HCPs perceived PICU diaries as beneficial for communication between staff and families, for parents by expressing their emotions and for staff by becoming aware of how parents experienced their child's admission. Reported barriers were the lack of a private environment, the risk of exposure to public reading, and PICU workload. CONCLUSIONS: PICU diaries were feasible and perceived as beneficial both by parents and HCPs. Future research is warranted to understand the effect of PICU diaries on post-PICU outcomes.

Narrative diaries in the paediatric intensive care unit: A thematic analysis.

BACKGROUND: The paediatric intensive care unit (PICU) diary is a shared tool, kept at the patient bedside, written by relatives and health care providers. There is little evidence about its feasibility and how it supports the families of children admitted to the PICU. Currently, there is no evidence about how the PICU diary is used and what we can learn from it. AIM: To explore the contents of narrative PICU diaries in an Italian PICU. STUDY DESIGN: Qualitative study of PICU diaries conducted with a narrative research approach. METHODS: Children sedated and mechanically ventilated for >48 hours were enrolled in a six-bed Italian PICU of a tertiary care paediatric hospital. During the child's PICU admission, caregivers, relatives, friends, and health care providers were invited to report events, thoughts, and messages, and attach drawings/pictures for the child in the PICU diary. A thematic analysis of the PICU diary contents was performed. RESULTS: Thirteen PICU diaries were completed between August and December 2020, mainly by parents (n = 95; 45%) and health care providers (n = 52; 25%). Three main themes emerged: "Social and spiritual support," "Caregiver's emotions, feelings and distress," and "PICU life." Diaries offer insight into caregivers' emotions, social support, clinical activities, and interactions with health care providers, and on progression towards recovery. CONCLUSION: PICU diaries are valuable in facilitating family-centred care by providing a space for the written account of the child's admission by parents, other visitors, and health care providers. RELEVANCE TO CLINICAL PRACTICE: PICU diaries support the relationship and the communication between the family and the team; they provide an informal account of the emotions and needs of parents that has the potential to improve mutual understanding and family-centred care. Social support and spiritual support are key elements reported by parents for coping with their child's PICU admission.

Cognitive predictors of Social processing in congenital atypical development.

According to current accounts of social cognition, the emergence of verbal and non-verbal components of social perception might rely on the acquisition of different cognitive abilities. These components might be differently sensitive to the pattern of neuropsychological impairments in congenital neurodevelopmental disorders. Here, we explored the association between social and non-social cognitive domains by administering subtests of the NEPSY-II battery to 92 patients with Intellectual and Developmental Disability (IDD). Regardless the level of intellectual functioning and presence of congenital brain malformations, results revealed that visuospatial skills predicted emotion recognition and verbal component of Theory of Mind, whereas imitation predicted the non-verbal one. Future interventions might focus on spatial and sensorimotor abilities to boost the development of social cognition in IDD.

Staff perception of the implementation, enablers and barriers to pediatric intensive care unit diary writing: A qualitative study.

OBJECTIVES: To explore how the multi-professional pediatric intensive care unit staff experienced the implementation of the diary. RESEARCH METHODOLOGY/DESIGN: Qualitative study using the implementation research approach. SETTING: a six-bed pediatric intensive care unit at a large Italian tertiary care pediatric hospital, treating patients with acute conditions from the Emergency Department or hospital wards. MAIN OUTCOME MEASURES: Healthcare providers' experiences of the implementation of the diaries. Data was collected by focus groups and interviews and thematic analysis was performed. FINDINGS: Three focus groups and four interviews with staff were conducted after the implementation of thediaries from August 2020 to June 2021. Staff describe an initial disbelief towards the effectiveness of diaries followed by an increasing perception of their relevance for parents' emotional expression through shared narration. Diaries are reported as a beneficial communication tool between the family, the child, and health care providers, increasing staff understanding of parents' experiences of their child's admission and parents' sense of the care received by their child. For staff, barriers for diary writing were logistics, lack of time, limited sense of ownership, fear of legal retaliation and fear of emotional labor. CONCLUSION: Health care providers perceived diaries as beneficial for parents and the healthcare team, potentially supporting their partnership as recommended by Family Centered Care models. The enablers and barriers that emerged for diary writing can support the development of implementation strategies to prevent the reported challenges to diary writing in the healthcare team, enhancing their uptake in the pediatric intensive care unit setting.

Accuracy of Pancreatic Stone Protein for diagnosis of sepsis in children admitted to pediatric intensive care or high-dependency care: a pilot study.

BACKGROUND: Pancreatic Stone Protein (PSP) is one of the most promising diagnostic and prognostic markers. The aim of the study was to assess the accuracy of PSP, compared to C-Reactive Protein (CRP), and Procalcitonin (PCT) for sepsis diagnosis in pediatric patients. Furthermore, we explored the correlation of PSP levels with sepsis severity and organ failure measured with PELOD-2 score. METHODS: Forty pediatric patients were enrolled following admission to pediatric intensive care, high dependency care or pediatric ward. PSP blood levels were measured in Emergency Department (nanofluidic point-of-care immunoassay; abioSCOPE, Abionic SA, Switzerland) on day 1, 2, 3, 5 and 7 from the onset of the clinical signs and symptoms of sepsis or SIRS. Inclusion criteria were: 1) patient age (1 month to 18 years old), 2) signs and symptoms of SIRS, irrespective of association with organ dysfunction. Exclusion criteria were: 1) hemato-oncological diseases and/or immunodeficiencies, 2) pancreatic diseases. RESULTS: Septic patients showed higher PSP levels than those with non-infectious systemic inflammation. The optimal cut-off in diagnosis of sepsis for PSP at day 1 was 167 ng/ml resulted in a sensitivity of 59% (95% IC 36%-79%) and a specificity of 83% (95% IC 58%-96%) with an AUC of 0.636 for PSP in comparison to AUC of 0.722 for PCT and 0.503 for C-RP. ROC analysis for outcome (survival versus no survival) has showed AUC 0.814 for PSP; AUC 0.814 for PCT; AUC of 0.657 for C-RP. CONCLUSIONS: PSP could distinguish sepsis from non-infectious systemic inflammation; however, our results need to be confirmed in larger pediatric population.

Audiological findings in Williams syndrome: a study of 69 patients.

The aim of this study was to investigate, in a clinical setting, the auditory function of a group of individuals affected by Williams syndrome (WS). Sixty-nine patients with WS, aged 2-30, underwent comprehensive audiological testing including air/bone conduction behavioral audiometry, speech audiometry, tympanometry and measurement of the acoustic reflex, transient evoked otoacoustic emissions and brainstem auditory evoked responses. Hearing loss, defined by a pure-tone average above 15 dB HL, affected 22.6% of the patients studied with traditional audiometry and was mostly slight in severity. Hearing loss was conductive in 9.4% of patients, mainly children with otitis media with effusion, and sensorineural in 13.2% of patients. However, 30% of the ears studied had a hearing impairment in the high frequency range (high-frequency pure-tone audiometry above 15 dB HL), higher in participants above 15 years (46.15%) than in the younger ones (23.45%). Contralateral stapedial reflexes were present in all patients with A-type tympanograms. Transient otoacoustic emissions were absent in 44% of the ears of patients with normal hearing. Brainstem auditory evoked responses fell within normal ranges thus confirming the absence of retrocochlear dysfunction. Although hearing loss does not seem to be frequent, a cochlear fragility, especially in the high frequency range, related to outer hair cells is characteristic of WS. Therefore we strongly recommend monitoring patients affected by WS using annual audiometric tests and performing otoacoustic emissions in order to identify a subclinical cochlear dysfunction which might benefit from an audiological follow up before the possible onset of hearing loss.

Generation COVID-19 and bodily disorders: Hyperbolic narratives and a developmental psychopathology perspective.

Starting from spring 2020, newspapers headlines and studies have suggested that the COVID-19 pandemics had a negative impact especially on the mental health of children and adolescents, so that terms like "lost generation" or "generation COVID-19" have been used to define youth in time of pandemic crisis. Similarly, international health agencies reported an increase in depression and anxiety among adolescents in COVID-19 time, but also a rise in bodily disorders, such as non-suicidal self-injury and eating disorders. However, scientific data on this matter are not as clear as they seem and theoretical-clinical proposals regarding the processes involved are lacking. Focusing specifically on bodily disorders in adolescents during COVID-19, the aim of this perspective paper is to review this issue and propose a novel viewpoint on it. Firstly, data regarding frequency and phenomenology of bodily disorders in adolescence before and during the pandemic will be presented to underline possible discrepancies, gaps, or hyperbolic descriptions in the literature published after the COVID-19 outbreak. Secondly, a specific theoretical-clinical perspective will be proposed, that is, a developmental psychopathology perspective which attempts to frame these phenomena in a more nuanced and complex way, taking into account the role of developmental processes in adolescence age and its difficulties in the specific, subjective life-context of the individual, when intertwining with vulnerability factors and stressful life events. As such, the function of the body for the adolescent as a primary mean for regulating the self-other relationship and developing a greater sense of self-agency will be highlighted. The final objective is to help the clinician in developing both a critical thinking about the data that are shared in public outlets and an intervention that takes into account the complexity of contemporary psychopathological phenomena.

Could an Immersive Virtual Reality Training Improve Navigation Skills in Children with Cerebral Palsy? A Pilot Controlled Study.

Children with cerebral palsy (CP) suffer deficits in their motor, sensory, and cognitive abilities, as well as in their visuospatial competences. In the last years, several authors have tried to correlate the visuospatial abilities with the navigational ones. Given their importance in everyday functions, navigation skills have been deeply studied using increasingly cutting-edge techniques such as virtual reality (VR). However, to our knowledge, there are no studies focused on training using immersive VR (IVR) in children with movement disorders. For this reason, we proposed an IVR training to 35 young participants with CP and conceived to improve their navigation skills in a "simil-real" environment while playing on a dynamic platform. A subgroup performed a part of the training which was specifically dedicated to the use of the allocentric strategy (i.e., looking for landmarks) to navigate the virtual environment. We then compared the children's navigation and spatial skills pre- and post-intervention. All the children improved their visual-spatial abilities; particularly, if the IVR activities specifically trained their ability to look for landmarks and use them to navigate. The results of this work highlight the potential of an IVR training program to increase the navigation abilities of patients with CPs.

Challenges and resources in adult life with Joubert syndrome: issues from an international classification of functioning (ICF) perspective.

BACKGROUND: Joubert Syndrome (JS) is a rare inherited neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation (i.e. the molar tooth sign) and variable organ involvement. The aim of the present study was to describe functional limitations and disabilities in a large sample of adult patients with a diagnosis of JS. METHODS: We administered the International Classification of Functioning (ICF) checklist to thirty-six adult Italian patients with JS or their caregivers through telephone calls. RESULTS: None-to-mild impairment was documented for basic cognitive and mental functions, whereas severe deficit emerged for higher-order skills and language. A mismatch between individuals' capacity for daily activity and social participation and the actual performance in these fields emerged, suggesting that adults with JS may greatly benefit from external support from the caring environment. Indeed, specific facilitators were highlighted, including communication technologies as well as family members, healthcare professionals and peers support. Mild-to-severe barriers have been identified by adult patients with JS in the domains of services, systems and policies. CONCLUSIONS: These findings highlight challenges and barriers for adults with JS in areas of daily functioning that may be improved by investing in rehabilitation care models that embed social support programs and policies into clinical interventions.IMPLICATIONS FOR REHABILITATIONChildren with Joubert Syndrome, a child-onset rare inherited neurodevelopmental condition, are growing up and becoming adults; a life course approach in rehabilitation is needed;There is a substantial lack of information on the long-term adaptive daily functioning of children with a diagnosis of Joubert Syndrome;In this paper, the International Classification of Functioning (ICF) was applied to assess the daily functioning in people with JS;Severe deficits emerged for high-order skills and language, whereas the use of communication technologies and the engagement of family members were highlighted as key facilitators;These findings highlight the need for a change of paradigm in the care model of subjects with JS, with the embedding of social support in rehabilitation programs.

Learning My Way: A Pilot Study of Navigation Skills in Cerebral Palsy in Immersive Virtual Reality.

Purpose: Human navigation skills are essential for everyday life and rely on several cognitive abilities, among which visual-spatial competences that are impaired in subjects with cerebral palsy (CP). In this work, we proposed navigation tasks in immersive virtual reality (IVR) to 15 children with CP and 13 typically developing (TD) peers in order to assess the individual navigation strategies and their modifiability in a situation resembling real life. Methods: We developed and adapted to IVR an application based on a 5-way maze in a playground that was to be navigated to find a reward. The learning process, navigation strategies, and adaptation to changes were compared between participants with CP and their TD peers and correlated with visual-spatial abilities and cognitive competences. Results: Most participants with CP needed more attempts than TD participants to become proficient in navigation. Furthermore, the learning phase was correlated to visual-spatial memory but not with cognitive competences. Interestingly, navigation skills were comparable between groups after stabilization. While TD participants mainly relied on allocentric strategies based on environmental cues, egocentric (self-centered) strategies based on body motion prevailed in participants with CP. Furthermore, participants with CP had more difficulties in modifying their navigation strategies, caused by difficulties in executive processes beyond the visual-perceptual impairment, with an inefficient shift between implicit and explicit competences. Conclusions: The navigation abilities in participants with CP seem to be different from their TD peers in terms of learning and adaptation to new conditions; this could deeply affect their everyday life and ultimately participation and inclusion. A regular assessing and focused rehabilitative plans could help to better navigate the environment and affect self-perception.

Disorders of cognitive and affective development in cerebellar malformations.

Acquired cerebellar lesions in adults and children can lead to the development of a complex behavioural pattern termed 'Cerebellar Cognitive Affective Syndrome' (Schmahmann and Sherman, Brain, 1998; 121: 561-79), which is characterized by reduced cognitive efficiency associated with specific neuropsychological deficits (executive and visuospatial disorders), expressive language disorders (mild agrammatism and anomia) and affective disorders with blunting of affect. It is not known whether a symptomatological picture such as this can also be found in congenital cerebellar malformations. We studied the behavioural developmental profile of 27 patients including children and adults with congenital malformations confined to the cerebellum, the largest studied sample to date. Extensive clinical and neuropsychological investigations highlight the presence of a wide range of disorders supporting the important role played by the cerebellum in the acquisition of higher-order cognitive and affective skills. The type and extent of cerebral reorganization processes in the presence of malformative lesions are difficult to predict and may possibly account for the variability of clinical phenotypes. It is, therefore, more difficult to identify a syndromic picture defined as exactly as is the case with acquired lesions. However, the pattern of deficits that we document is in remarkable agreement with the general profile of the Cerebellar Cognitive Affective Syndrome. Malformations affecting the cerebellar vermis induce affective and social disorders and evolve towards more unfavourable pictures often associated with an autistic symptomatology. Malformations of cerebellar hemispheres are more frequently associated with selective neuropsychological deficits involving mainly executive functions and visuospatial and linguistic abilities. Motor deficits are generally less severe, and tend to improve slowly and progressively, in some cases reaching almost complete functionality. Finally, the overall favourable evolution with an onset of skills in advanced age in a consistent subset of subjects suggests that individual follow-ups should be performed in order to monitor the quality and stability of impairments and acquired abilities over time.

The effect of frequency of cerebral palsy treatment: a matched-pair pilot study.

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.

Immersive Virtual Reality to Improve Walking Abilities in Cerebral Palsy: A Pilot Study.

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.

A Different Brain: Anomalies of Functional and Structural Connections in Williams Syndrome.

We describe the results of a functional and structural brain connectivity analysis comparing a homogeneous group of 10 young adults with Williams Syndrome (WS; 3 females, age 20. 7 ± 3.7 years, age range 17.4-28.7 years) to a group of 18 controls of similar age (3 females, age 23.9 ± 4.4 years, age range 16.8-30.2), with the aim to increase knowledge of the structure - function relationship in WS. Subjects underwent a 3T brain MRI exam including anatomical, functional (resting state) and structural (diffusion MRI) sequences. We found convergent anomalies in structural and functional connectivity in the WS group. Altered Fractional Anisotropy (FA) values in parieto-occipital regions were associated with increased connectivity in the antero-posterior pathways linking parieto-occipital with frontal regions. The analysis of resting state data showed altered functional connectivity in the WS group in main brain networks (default mode, executive control and dorsal attention, sensori-motor, fronto-parietal, ventral stream). The combined analysis of functional and structural connectivity displayed a different pattern in the two groups: in controls the highest agreement was found in frontal and visual areas, whereas in WS patients in posterior regions (parieto-occipital and temporal areas). These preliminary findings may reflect an altered "wiring" of the brain in WS, which can be driven by hyper-connectivity of the posterior regions as opposed to disrupted connectivity in the anterior areas, supporting the hypothesis that a different brain (organization) could be associated with a different (organization of) behavior in Williams Syndrome.

Evolution of neurologic features in Williams syndrome.

As a part of a large multidisciplinary clinical and research follow-up study, 47 Williams syndrome patients underwent detailed neurologic testing. Because previous studies have documented the absence of major neurologic signs in Williams syndrome, the neurologic testing focused on soft signs. Previous findings of impairment of both gross and fine motor coordination were confirmed, and the presence of mild cerebellar and extrapyramidal signs was documented. In a 4-year follow-up study, an age-related pattern was revealed: soft extrapyramidal signs became more evident from 8 years of age and increased in the 14+ age group. The results are discussed according to a hypothesis related to the dopaminergic system involvement in Williams syndrome: anomalous organization or accelerated ageing process.

Effects of dose and duration of Robot-Assisted Gait Training on walking ability of children affected by cerebral palsy.

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.

Is everybody always my friend? Perception of approachability in Williams syndrome.

Individuals with Williams syndrome (WS) are well known for their friendly behaviour and tendency to approach strangers indiscriminately as if everybody were their friend. This tendency to approach strangers is mirrored in their ratings of unfamiliar face stimuli. Here we examined their perception of unfamiliar expressive faces and found that individuals with WS do not always see faces as being highly approachable. Happy faces were rated as more approachable by individuals with WS than by controls. In contrast, the other less approachable face stimuli were rated lower on approachability by individuals with WS than by controls. Thus, it appears that although individuals with WS will discriminate people in terms of approachability, they have difficulty inhibiting their strong compulsion towards social interaction. The form of this strong pro-social compulsion is discussed both in terms of friendliness and in terms of the heightened salience of social stimuli (social stimulus attraction).

Can new technologies improve upper limb performance in grown-up diplegic children?

BACKGROUND: Few systematic studies describe rehabilitation trainings for upper limb in diplegic children with cerebral palsy (CP), who - especially once grown up - are often not considered as a target for rehabilitation interventions. AIM: In this pilot study, we describe the details and the effectiveness of an intensive, technology assisted intervention for upper limb. SETTING: The treatment combines the utilization of Armeo® Spring with a training focused on hand/finger fluency and dexterity in a pre-post treatment experimental design. POPULATION: Participants were ten school-aged children (mean age 11.2) with bilateral CP and diplegia, attending mainstream schools. METHODS: Participants underwent 40 therapy sessions in four weeks. Armeo® Spring measures, standardized motor and perceptual outcome indexes, as well as everyday life indicators were utilized to assess the effect of the intervention. RESULTS: Upper limb coordination, fluency and quality of movements mainly of hands and fingers significantly improved, with a good transferability to everyday life also in areas not specifically trained, such as self-care abilities and mobility. Probably due to the visual feedback provided by the virtual reality setting (which was all in one the context, the incentive and the product of activities), perceptual abilities significantly improved, too. CONCLUSIONS: Our study suggests the importance of intervention on upper limb even in milder CP diplegic forms and in relatively grown-up children. The possibility of modification at least partially relies on learning processes that are active all along development and benefit from stimulation. CLINICAL REHABILITATION IMPACT: Though further studies with control groups and follow-up perspective are needed to confirm, new technologies offer interesting possibilities to be integrated into new evidence-based rehabilitation models.

Learning to live without the cerebellum.

The near-total absence of the cerebellum is a rare congenital condition with a wide phenotypic heterogeneity ranging from a severe to mild impairment of motor, cognitive, and behavioral functions. In this study, the case of a 48-year-old right-handed man with a near-total absence of the cerebellum was examined with the aim of understanding the long-term reorganization of a brain developed without a cerebellum. Clinical, neuropsychological evaluation and a neuroimaging study on a 3-T scanner were carried out. Both conventional structural diffusion tensor imaging (DTI) and functional (resting-state fMRI) data were acquired. A severe neuropsychomotor delay in infancy and adolescence involving motor skills, cognitive, and affective competencies was observed, which improved over the years. Conventional MRI findings confirmed the complete absence of the cerebellum. Analysis of DTI and resting-state fMRI data showed an impairment of the executive-control network, involving areas strongly connected with the cerebellum through the frontopontine fibers. The neuroimaging findings excluded the involvement of the extracerebellar structure. In conclusion, our data support the vascular genesis hypothesis for this rare pathology, consistent with an acquired embryonic cerebellar insult. This case also shows that it is possible to learn to live without the cerebellum over time.