Background: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication, social interaction, and restricted behaviors. The importance of early intervention has been widely demonstrated, and developmental trajectories in ASD emphasize the importance of nonverbal communication, such as intransitive gesture production, as a possible positive prognostic factor for language development. The use of technological tools in the therapy of individuals with ASD has also become increasingly important due to their higher engagement and responsiveness to technological objects, such as robots.
View Article and Find Full Text PDFIEEE Trans Neural Syst Rehabil Eng
June 2024
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.
View Article and Find Full Text PDFPurpose: 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.
View Article and Find Full Text PDFBackground: 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).
View Article and Find Full Text PDFJoint 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.
View Article and Find Full Text PDFAutism 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.
View Article and Find Full Text PDFBackground: 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.
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.
View Article and Find Full Text PDFPreterm 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.
View Article and Find Full Text PDFIEEE Trans Neural Syst Rehabil Eng
August 2021
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.
View Article and Find Full Text PDFBackground: 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.
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.
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.
View Article and Find Full Text PDFPediatric 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.
View Article and Find Full Text PDFPurpose: 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.
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.
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.
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).
View Article and Find Full Text PDFObjectives: 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.
View Article and Find Full Text PDFAicardi-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.
View Article and Find Full Text PDFBackground: 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.
Background: Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR). The disease is severe and effective treatments are urgently needed. We investigated the status of interferon-related biomarkers in patients with AGS with a view to future use in diagnosis and clinical trials.
View Article and Find Full Text PDFAicardi-Goutières syndrome is an inflammatory disorder resulting from mutations in TREX1, RNASEH2A/2B/2C, SAMHD1, or ADAR1. Here, we provide molecular, biochemical, and cellular evidence for the pathogenicity of two synonymous variants in RNASEH2A. Firstly, the c.
View Article and Find Full Text PDFPurpose: The purpose of this study was to explore anecdotal evidence for an increase in the prevalence of autoimmune diseases in family members of patients with Aicardi-Goutières syndrome (AGS).
Methods: Pedigrees of patients and controls were analyzed using chi-square and logistic regression to assess differences in reports of autoimmune disease among family members of cases and controls. Data was collected at Children's National Medical Center in Washington, DC, USA and at the International Aicardi-Goutières Syndrome Association Scientific Headquarters, C.