Attention Analysis in Robotic-Assistive Therapy for Children With Autism.

Children with Autism Spectrum Disorder (ASD) show severe attention deficits, hindering their capacity to acquire new skills. The automatic assessment of their attention response would provide the therapists with an important biomarker to better quantify their behaviour and monitor their progress during therapy. This work aims to develop a quantitative model, to evaluate the attention response of children with ASD, during robotic-assistive therapeutic sessions. Previous attempts to quantify the attention response of autistic subjects during human-robot interaction tasks were limited to restrained child movements. Instead, we developed an accurate quantitative system to assess the attention of ASD children in unconstrained scenarios. Our approach combines gaze extraction (Gaze360 model) with the definition of angular Areas-of-Interest, to characterise periods of attention towards elements of interest in the therapy environment during the session. The methodology was tested with 12 ASD children, achieving a mean test accuracy of 79.5 %. Finally, the proposed attention index was consistent with the therapists' evaluation of patients, allowing a meaningful interpretation of the automatic evaluation. This encourages the future clinical use of the proposed system.

Non-immersive virtual reality based treatment for children with unilateral cerebral palsy: Preliminary results.

PURPOSE: Unilateral cerebral palsy (UCP) represents about 30-40% of overall cerebral palsy diagnoses. Upper limb impairment has a significant negative impact on activities of daily living (ADL), and recent studies have shown that the use of virtual reality (VR) can increase motivation and promote an improvement in ADL. This preliminary study was aimed at exploring the acceptability and usability of a VR rehabilitation treatment, using the VITAMIN Platform, for children with UCP. A secondary goal of the study was to compare the results of usual standardized clinical scales and questionnaires with kinematic results as well as with the quantitative measures acquired by the VITAMIN platform in each exercise of the rehabilitation sessions. METHODS: Six children with UCP (aged 7-15) were recruited for a preliminary investigation in using a non-immersive VR system. The treatment was composed of 10 weekly sessions of 45 minutes. Each child played five types of exergames, using the impaired upper limb to hit virtual objects projected on a wide screen. Standardized clinical scales, kinematic analysis, and questionnaires were used to extensively assess upper limb function before and at the end of treatment. Five typically-developing children provided a reference for the instrumented kinematic assessment. RESULTS: At the end of the treatment, Melbourne Assessment 2 (MA2) scores increased for all the participants (mean increase in range of movement (ROM) + 19.1%, accuracy + 4.6%, dexterity + 13.1%, fluency + 10.3%). Shoulder flexion-extension ROM also improved (mean increase + 10.5°), and according to the kinematic analysis, shoulder movements became more similar to reference profiles. These results were confirmed by a general improvement in performing ADL, assessed by the ABILHAND-Kids questionnaire. Finally, a general agreement among the different measures and indexes emerged from the acquired data. CONCLUSION: The results show that VR treatment with the VITAMIN platform could be engaging and functional for rehabilitation of children with UCP. The good agreement among the qualitative and quantitative measures and indexes confirms the potential of such novel treatment. However, due to the limited sample size and small number of sessions, further and larger investigations are required to evaluate the effectiveness and to generalize the results.

Virtual reality rehabilitation program on executive functions of children with specific learning disorders: a pilot study.

Background: The application of Virtual Reality (VR) in the field of rehabilitation has been widely studied, because it has already proven to be an effective intervention for a variety of physical and cognitive conditions. Nevertheless, its application in pediatric rehabilitation is more recent. This pilot study aims to examine whether a VR-rehabilitation program may have positive effects on the Executive Functions (EFs) of children with Specific Learning Disorders (SLD). Materials and methods: Twenty-four children with diagnosis of SLD participated to the study (range 7-11 years) and performed the VR-training across 6 weeks in the CARE Lab, that was designed with appropriate structural measures and ad hoc fittings, to hide the sophisticated technology necessary to allow the child to experience a rehabilitative setting with recreational and semi-immersive features. Children were evaluated across three main time-points: T0, assessment of cognitive level and EFs immediately before the start of the intervention; T1, assessment of EFs immediately after the end of VR intervention; T2, follow-up of EFs after 6 months from the end of the VR intervention. The rehabilitation programs were customized according to clinical needs and/or single patient's characteristics, proposing different games with variable complexity levels. Results: Results showed that scores for visual attention, inhibition, flexibility, and planning abilities were significantly higher than before the intervention, and the most part of these ameliorations were maintained after 6 months. Conclusion: These findings provide important inputs for the development of new innovative rehabilitation interventions for children with SLD that must be founded in ecological and evidence-based approaches.

Development of an Interactive Total Body Robot Enhanced Imitation Therapy for ASD children.

Autism is a neurodevelopmental disorder in which the available therapies target the improvement of social skills, in order to ensure a high quality of life for the child. The use of Social Assistive Robots offers new therapeutic possibilities in which robots can act as therapy enhancers. IOGIOCO project emerges in this framework: it aims at the development of a Robot- Assisted Therapy protocol for the treatment of Autism Spectrum Disorder, through gesture training. The definition of these gestures and their recognition by the robot are parameters that directly affect the engagement of the children. However, the design of a protocol becomes harder in a highly unconstrained environment. Therefore, the current work aims at expanding the gesture set and improving the gesture recognition algorithm available in the IOGIOCO platform. More specifically, total body gestures have been added to the available upper limbs movements, and a custom Activity Detection method has been developed, which allows the identification of the time window in which a gesture is performed. The insertion of this method on a recognition algorithm based on a ResNet, a particular kind of Convolutional Neural Network, improved its F1-score from 57% obtained with the previously-available version, in a dataset of ASD children, to 76%, demonstrating the effectiveness of the Activity Detection method. Furthermore, the expansion of the interaction possibilities to total body movements was positively evaluated by the clinical staff, increasing the engagement of patients and the set of possible trained skills. Therefore, the results of the current work are encouraging. To reinforce the conclusions drawn, the proposed algorithm should be tested in real time on several autistic children within a complete Randomized Clinical Trial, also to study the effectiveness of this type of treatment. From the technical point of view, further improvements of the developed methodology should tackle the remained issues, such as further increasing the recognition capability, especially in the transitions from sitting to standing, that proved to be a hard task for the developed method.

Sharing Worlds: Design of a Real-Time Attention Classifier for Robotic Therapy of ASD Children.

Joint attention is the capacity of sharing attention between two agents and an aspect of the environment, through the use of different cues, namely gaze. This capacity is of paramount importance for social skills. People with Autism Spectrum Disorder (ASD) present certain deficits in joint attention. Therefore, there is an increasing interest in finding therapies to improve this skill. Some of these therapies include robots since they are known to be attractive to people with autism due to their motivation ability and predictability when compared with humans. In this line, we have designed a real-time attention classifier for a triadic robotic therapy, using Gaze360 and geometrical considerations of the scene. We were able to classify the gaze of the therapist and the one of the child during the whole session, even in a highly unconstrained scenario with a single camera, achieving a mean accuracy of 59%. This classifier can be used for the measurement of joint attention, an important metric for the development of adaptive robotic therapies, where increasing levels of difficulty and engagement are provided dependent on the ASD children, who are characterised by high heterogeneity. Future work will pass by the calculation of this metric and integration on a robotic platform for ASD therapy to understand the impact of these robotic therapies in improving ASD symptoms, specifically on how ASD children share their attention with other people present in the rehabilitation scenarios.

Emotion recognition and theory of mind weakness at school age in children born preterm.

BACKGROUND: Social immaturity and impaired social functioning are topical issues in recent research in the field of prematurity. Social-cognitive skills and emotional processing, the neuropsychological correlates underlying social behavior, are key aspects of these issues. METHODS: We examined 48 Italian primary school children who had been born preterm with a very low birthweight (26 males; mean age 9 years; SD 1.2). All had shown a normal neonatal cerebral ultrasound at term age, and showed a normal neurological examination and average IQ at the time of the study. Social skills and executive functions (EFs) and their correlations with a set of neonatal, sociodemographic, cognitive and adaptive parameters were investigated using standardized scales and questionnaires. RESULTS: Emotion recognition (ER) was impaired in 48% and Theory of Mind (ToM) in 8% of the children. These deficits showed no relationship with EFs or IQ, or with gestational age, birthweight, age or gender. Correlations between ER and socioeconomic status and between ToM and adaptive functioning were documented. CONCLUSIONS: We suggest that adaptive and behavioral problems in preterm children may be linked to neurocognitive dysfunction characterized by deficits in social skills, which may be driven by socioeconomic, family and environmental factors, socioeconomic status in particular. Possible neural circuitry impairments underlying these deficits are discussed.

A semi-standardized music therapy intervention for girls with Rett syndrome: A descriptive essay.

Rett syndrome (RTT) is a severe neurodevelopmental disorder resulting in a wide range of functional impairments and therefore greatly impacts the lives of both patients and their families. While genetic and medical aspects have been studied for several decades, rehabilitation intervention research is still in its infancy. In this study, the investigating researchers have presented a rehabilitative framework by using music therapy for girls with RTT. This model is founded upon the use of music therapy in light of Stern's proposal of subjective experience and affect attunement; it also refers to Rosenbaum's family-centered rehabilitation medicine perspective. This study both describes the theory behind this intervention and presents a newly developed outcome measure. This novel tool may have future clinical and research applications. Music therapy for patients with RTT has not been well researched yet, and, as a result, is not universally recommended. However this study's findings suggest that music therapy is an important component of multidisciplinary therapy. Further collaborative research should be encouraged in order to study and implement the use of music therapy in the treatment of severe disabilities. Projects such as the Enablin+ program with the support from the European Commission constitute fundamental tools in promoting integrative medical research and international networks.

Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year period.

Preterm very low birth weight infants (VLBWi) are known to be at greater risk of adverse neurodevelopmental outcome. Identifying early factors associated with outcome is essential in order to refer patients for early intervention. Few studies have investigated neurodevelopmental outcome in Italian VLBWi. The aim of our longitudinal study is to describe neurodevelopmental outcome at 24 months of corrected age in an eleven-year cohort of 502 Italian preterm VLBWi and to identify associations with outcome. At 24 months, Griffiths' Mental Developmental Scales were administered. Neurodevelopmental outcome was classified as: normal, minor sequelae (minor neurological signs, General Quotient between 76 and 87), major sequelae (cerebral palsy; General Quotient ≤ 75; severe sensory impairment). 75.3% showed a normal outcome, 13.9% minor sequelae and 10.8% major sequelae (3.8% cerebral palsy). Male gender, bronchopulmonary dysplasia, abnormal neonatal neurological assessment and severe brain ultrasound abnormalities were independently associated with poor outcome on multivariate ordered logistic regression. Rates of major sequelae are in line with international studies, as is the prevalence of developmental delay over cerebral palsy. Analysis of perinatal complications and the combination of close cUS monitoring and neurological assessment are still essential for early identification of infants with adverse outcome.

Design of a Robotic Coach for Motor, Social and Cognitive Skills Training Toward Applications With ASD Children.

Socially assistive robots may help the treatment of autism spectrum disorder(ASD), through games using dyadic interactions to train social skills. Existing systems are mainly based on simplified protocols which qualitatively evaluate subject performance. We propose a robotic coaching platform for training social, motor and cognitive capabilities, with two main contributions: (i) using triadic interactions(adult, robot and child), with robotic mirroring, and (ii) providing quantitative performance indicators. The key system features were accurately designed, including type of protocols, feedback systems and evaluation metrics, contemplating the requirements for applications with ASD children. We implemented two protocols, Robot-Master and Adult-Master, where children performed different gestures guided by the robot or the adult respectively, eventually receiving feedback about movement execution. In both, the robot mirrors the subject during the movement. To assess system functionalities, with a homogeneous group of subjects, tests were carried out with 28 healthy subjects; one preliminary acquisition was done with an ASD child. Data analysis was customized to design protocol-specific parameters for movement characterization. Our tests show that robotic mirroring execution depends on the complexity and standardization of movements, as well as on the robot technical features. The feedback system evaluated movement phases and successfully estimated the completion of the exercises. Future work includes improving platform flexibility and adaptability, and clinical trials with ASD children to test the impact of the robotic coach on reducing symptoms. We trust that the proposed quantitative performance indicators extend the current state-of-the-art towards clinical usage of robotic-based coaching systems.

Placental Histological Features and Neurodevelopmental Outcomes at Two Years in Very-Low-Birth-Weight Infants.

BACKGROUND: We evaluated the rates of placental pathologic lesions and their relationship with two-year neurodevelopmental outcomes in very-low-birth-weight (VLBW) infants. METHODS: This is a cohort observational study comprising 595 VLBW infants during 2007 to 2015. Neurodevelopmental assessment was carried out at 24 months corrected age. RESULTS: In univariate analysis the rates of survival with normal neurodevelopmental outcomes were lower in pregnancies with severe histologic chorioamnionitis (38 of 43, 88.4% when compared with 305 of 450, 67.8%), severe maternal vascular malperfusion (MVM) (17 of 37, 45.9% when compared with 326/492, 66.3%), and intravillous hemorrhage (37 of 82, 45.1% when compared with 306 of 449, 68.1%). In logistic models, severe MVM (adjusted odds ratio [adj. OR] = 0.45, 95% confidence interval [CI] = 0.22 to 0.92), severe fetal vascular malperfusion (FVM) (adj. OR = 0.46, 95% CI = 0.22 to 0.45), and intravillous hemorrhage (adj. OR = 0.38, 95% CI = 0.22 to 0.62) were associated with lower rates of infant survival with normal neurodevelopmental outcome. FVM (adj. OR = 0.46, 95% CI = 0.21 to 0.97) and intravillous hemorrhage (adj. OR = 0.37, 95% CI = 0.22 to 0.62) were also the only placental lesions that were independent predictors of a lower rate of intact survival in stepwise analysis for prognostic factors of the entire cohort. CONCLUSIONS: Placental pathologic findings such as severe MVM, FVM, and intravillous hemorrhage are significant predictors of neonatal survival and subsequent adverse neurodevelopmental outcomes. Data on the placental pathology could be useful in the neurodevelopmental follow-up of VLBW infants.

Impact of COVID-19 lockdown in children with neurological disorders in Italy.

BACKGROUND: The costs and benefits of full lockdown measures are debated. Neurologically impaired children are a vulnerable population with specific needs in terms of protection against infection and access to health services. OBJECTIVES: We investigated the effects of lockdown on the health of children with neurological disorders and on their access to care during lockdown. METHODS: Data from 514 children (282 males - 232 females) were collected through physician-administered interviews to investigate: the occurrence of viral-like physical symptoms, the correlation between the risk of developing such symptoms and several demographic and clinical variables, the occurrence of any worsening of the children's neurological conditions during lockdown, and their access to care services during this period. RESULTS: 49.1% experienced at least one symptom during the study period, but no child developed severe complications. The prevalence of symptoms was significantly lower during lockdown than during the previous two months. The underlying neurological condition worsened in 11.5% of the patients. Children who regularly left the home during lockdown were greater risk of exhibiting symptoms. During lockdown, 67.7% had a specialist appointment cancelled, 52.6% contacted their paediatrician, and 30.9% contacted their child neuropsychiatrist. Among patients who usually receive rehabilitation, 49.5% continued remotely. CONCLUSION: Lockdown protected children from infections. Telemedicine and telerehabilitation constituted a valid alternative for the care and treatment of these children, but they should not become a widespread and definitive model of care. COVID-19 and other emergency response plans must take into account the specific needs of children with disabilities.

Design and validation of two embodied mirroring setups for interactive games with autistic children using the NAO humanoid robot.

Socially assistive robots have shown potential benefits in therapy of child and elderly patients with social and cognitive deficits. In particular, for autistic children, humanoid robots could enhance engagement and attention, thanks to their simplified toy-like appearance and the reduced set of possible movements and expressions. The recent focus on autism-related motor impairments has increased the interest on developing new robotic tools aimed at improving not only the social capabilities but also the motor skills of autistic children. To this purpose, we have designed two embodied mirroring setups using the NAO humanoid robot. Two different tracking systems were used and compared: Inertial Measurement Units and the Microsoft Kinect, a marker-less vision based system. Both platforms were able to mirror upper limb basic movements of two healthy subjects, an adult and a child. However, despite the lower accuracy, the Kinect-based setup was chosen as the best candidate for embodied mirroring in autism treatment, thanks to the lower intrusiveness and reduced setup time. A prototype of an interactive mirroring game was developed and successfully tested with the Kinect-based platform, paving the way to the development of a versatile and powerful tool for clinical use with autistic children.

Computer Assisted REhabilitation (CARE) Lab: A novel approach towards Pediatric Rehabilitation 2.0.

Pediatric Rehabilitation therapists have always worked using a variety of off-the-shelf or custom-made objects and devices, more recently including computer based systems. These Information and Communication Technology (ICT) solutions vary widely in complexity, from easy-to-use interactive videogame consoles originally intended for entertainment purposes to sophisticated systems specifically developed for rehabilitation.This paper describes the principles underlying an innovative "Pediatric Rehabilitation 2.0" approach, based on the combination of suitable ICT solutions and traditional rehabilitation, which has been progressively refined while building up and using a computer-assisted rehabilitation laboratory. These principles are thus summarized in the acronym EPIQ, to account for the terms Ecological, Personalized, Interactive and Quantitative. The paper also presents the laboratory, which has been designed to meet the children's rehabilitation needs and to empower therapists in their work. The laboratory is equipped with commercial hardware and specially developed software called VITAMIN: a virtual reality platform for motor and cognitive rehabilitation.

Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome.

PURPOSE: The purpose of this study was to explore the presence of autoimmune manifestations and characterize the autoantibody production in a cohort of patients with Aicardi-Goutières syndrome (AGS). METHODS: Seventeen patients with a genetically-confirmed diagnosis of AGS were recruited. At the time of enrollment, past medical and family history was reviewed, looking for possible signs or symptoms of autoimmune disorders. Blood samples were taken, for the detection of a panel of autoantibodies: anti-nuclear, anti-double-stranded-DNA, anti-nucleosome, anti-extractable nuclear antigens, anti-cardiolipin IgG/IgM, anti-ß2glycoprotein I IgG/IgM, and anti-neutrophil cytoplasmic. We also measured complement levels determined as C3 and C4 quantification and total complement activity, measured as CH50. RESULTS: Nine of seventeen patients presented with at least one first- or second-degree relative with a history of autoimmune diseases (the childrens' mother or grand-mother in the majority of cases). A specific autoimmune disease was present in only one AGS patient, namely an autoimmune thyroiditis. Autoantibodies were present in 9/17 patients, with different patterns of positivity. Complement levels were normal in all the patients. There was no correlation between auto-antibody production and personal or family history of autoimmune diseases. CONCLUSIONS: Definite autoimmune diseases are not common in patients with AGS. Autoantibodies are mainly directed towards nucleic acids-containing elements but seem not to be pathogenic and, rather, may represent an epiphenomenon of the enhanced interferon production.

Patient-reported outcomes measure for children born preterm: validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool.

AIM: This study was conducted to develop and validate a new self-report questionnaire for measuring quality of life (QoL), at school age, in children with a very low birthweight (VLBW). METHOD: Through a focus group approach, children were involved directly in defining the questionnaire items, which were presented as illustrations rather than written questions. This preliminary validation of the questionnaire was conducted in 152 participants with VLBW (aged 7-11y) randomly selected from the five participating Italian centres. The questionnaire was completed by children and parents separately; data on children's demographic and medical history, and intellectual, adaptive, and behavioural functioning were collected using standardized scales. All the children also completed the Paediatric Quality of Life Inventory (PedsQL), another Italian-language measure of QoL in children. RESULTS: Our questionnaire was readily accepted and understood, and quick to complete. The Cronbach's alpha value showed it to be a reliable instrument. The child-compiled version correlated well with the PedsQL, whereas no correlations emerged with the other scales used, IQ, or degree of impairment. Conversely, these variables correlated significantly with the parent-compiled version. Children's and parents' answers were divergent on practically all the items. INTERPRETATION: The results confirm the validity of the new instrument and highlight a poor overlap between parents' and children's perspectives.

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome.

OBJECTIVE: To perform an updated characterization of the neuroradiologic features of Aicardi-Goutières syndrome (AGS). METHODS: The neuroradiologic data of 121 subjects with AGS were collected. The CT and MRI data were analyzed with a systematic approach. Moreover, we evaluated if an association exists between the neuroradiologic findings, clinical features, and genotype. RESULTS: Brain calcifications were present in 110 subjects (90.9%). Severe calcification was associated with TREX1 mutations and early age at onset. Cerebral atrophy was documented in 111 subjects (91.8%). Leukoencephalopathy was present in 120 children (99.2%), with 3 main patterns: frontotemporal, diffuse, and periventricular. White matter rarefaction was found in 54 subjects (50.0%), strongly associated with mutations in TREX1 and an early age at onset. Other novel radiologic features were identified: deep white matter cysts, associated with TREX1 mutations, and delayed myelination, associated with RNASEH2B mutations and early age at onset. CONCLUSIONS: We demonstrate that the AGS neuroradiologic phenotype is expanding by adding new patterns and findings to the classic criteria. The heterogeneity of neuroradiologic patterns is partly explained by the timing of the disease onset and reflects the complexity of the pathogenic mechanisms.

Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies.

OBJECTIVES: Aicardi-Goutières syndrome (AGS) is an autoimmune disorder that shares similarities with systemic lupus erythematous. AGS inflammatory responses specially target the cerebral white matter. However, it remains uncertain why the brain is the most affected organ, and little is known about the presence of autoantibodies in AGS. Here, we aim to profile specific autoantibodies in AGS and to determine whether these autoantibodies target cerebral epitopes. METHODS: Using a multiplex microarray, we assessed the spectrum of serum autoantibodies in 56 genetically confirmed patients with AGS. We investigated the presence of immunoglobulins in AGS brain specimens using immunohistochemistry and studied the reactivity of sera against brain epitopes with proteomics. RESULTS: Serum from patients exhibited high levels of IgGs against nuclear antigens (gP210, Nup62, PCNA, Ro/SSA, Sm/RNP complex, SS-A/SS-B), components of the basement membrane (entactin, laminin), fibrinogen IV and gliadin. Upon testing whether antibodies in AGS could be found in the central nervous system, IgGs were identified to target in vivo endothelial cells in vivo and astrocytes in brain sections of deceased patients with AGS. Using a proteomics approach, we were able to confirm that IgGs in serum samples from AGS patients bind epitopes present in the cerebral white matter. CONCLUSIONS: Patients with AGS produce a broad spectrum of autoantibodies unique from other autoimmune diseases. Some of these autoantibodies target endothelial cells and astrocytes in the brain of the affected patients, perhaps explaining the prominence of neurological disease in the AGS phenotype.

Prevention of Lymphocyte Neurotoxic Effects by microRNA Delivery.

Aicardi Goutieres Syndrome (AGS) is characterized by mutations occurring in genes encoding RNAses. AGS mutations silence intracellular RNases resulting in an intracellular overload of short RNAs arresting the physiological production of microRNA required for brain development. MiR-219 is typically down-regulated in Aicardi Goutieres Syn-drome (AGS). The goal of this study is to investigate miR-219 role in protecting astrocytes co-cultured with AGS-mutated lymphocytes. These lymphocytes display neurotoxic properties due to the presence of AGS-mutation and to their activa-tion by interpheron-alpha (IFN). Obtained results provide the evidence that astrocytes transfected with microRNA-219 are protected from the neurotoxic action of AGS lymphocytes activated by IFN-alpha. In particular, the miR-219 transfection increased astrocyte viability, growth, and differentiation while decreasing cell necrosis and apoptosis. Thus, microRNA-219 transfection is a valuable strategy in order to confer resistance to astrocytes towards lymphocyte-induced neurotoxici-ty especially in the presence of IFN-alpha, whose levels are typically increased in the cerebrospinal fluid of AGS patients.

Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).

Aicardi-Goutières syndrome (AGS) is a genetic inflammatory disease. The classic neuroradiological picture mimics that of congenital infections in that Aicardi-Goutières syndrome is characterized by leukoencephalopathy, brain atrophy and intracranial calcifications. To date, bilateral striatal necrosis has not been reported in patients with AGS. We report on two patients with clinical diagnosis of Aicardi-Goutières syndrome in which brain MRI and CT scans demonstrated bilateral striatal necrosis. The diagnosis of Aicardi-Goutières syndrome in these two patients was genetically confirmed after the recent discovery that mutations in the ADAR1 (AGS6) gene may cause Aicardi-Goutières syndrome. This is the first report of bilateral striatal necrosis in association with Aicardi-Goutières syndrome. These results expand the neuroradiological phenotype of Aicardi-Goutières syndrome.

Rehabilitation of children with hemiparesis: a pilot study on the use of virtual reality.

BACKGROUND: A wide range of treatments have been used to improve upper arm motor performances in children with congenital hemiplegia. Recent findings are suggesting that virtual reality based intervention could be a promising tool also in pediatric rehabilitation. METHODS: Six patients with congenital hemiplegia (age: 4-16 years) were recruited among those treated in the Child Neuropsychiatry and Rehabilitation Unit of the IRCCS "Santa Maria Nascente" (Milan, Italy), for a preliminary investigation about using nonimmersive virtual reality for upper limb rehabilitation. Ten sessions using VRRS system (Khymeia, Padova, Italy) were weekly administered as a part of the rehabilitative treatment. Melbourne Assessment of Unilateral Limb Movement, Ashworth Scale, and Arm's PROM were selected as main outcome measures. At the end of treatment, participants filled in an ad hoc satisfaction questionnaire. RESULTS: All subjects completed the proposed treatment, and they also gave a positive judgment regarding this rehabilitative method. Melbourne score increased in all patients. CONCLUSION: Our findings seem to support the evidence that VR treatment could be a promising and engaging tool for pediatric rehabilitation. However, the limited size of the population and the small number of sessions require further investigations and RCTs to confirm our positive results.