Alberto Romano
@universitadipavia.it
Universita degli Studi di Pavia
Scopus Publications
Scholar Citations
Scholar h-index
Scholar i10-index
Scopus Publications
Yael Harel, Alberto Romano, and Meir Lotan
MDPI AG
Background: Physical therapy plays a crucial role in addressing the physical challenges faced by individuals with autism spectrum disorder (ASD). Amidst the COVID-19 pandemic lockdown, physical therapists (PTs) working in special education centers for ASD children were tasked with deploying remote telehealth interventions (RTIs), an uncommon approach in physical therapy until then. The present article aims to describe and discuss the PTs’ perspective of using RTI with children with ASD during the national Israeli COVID-19 lockdown. Methods: Reports from 13 experienced PTs who treated and supported 244 children with ASD using RTIs over six weeks were analyzed. The study employed quantitative research methods, including freely written reports and discussions addressing the question “what were your experiences as a PT treating ASD children remotely during the nationwide COVID-19 lockdown?” Results: the reports were categorized into four main themes: (a) the implications of RTIs on the children; (b) the implications of RTIs on the PTs; (c) modifications for applying RTI; and (d) PTs’ family rapport as a necessary basis for RTI. Noteworthy findings include the unaffected implementation of RTIs by ASD severity level and the dependence of RTI’s success on parental availability and the ability of parents to tailor activities for their child. Conclusions: The findings of the current research suggest that PT services through RTIs are well-suited for individuals with ASD and their families.
Alberto Romano, Meir Lotan, and Rosa Angela Fabio
MDPI AG
Rett syndrome (RTT) is a neurodevelopmental disorder marked by profound cognitive, communication, and motor impairments. Despite identified genotype/phenotype connections, the extent of clinical severity varies even among individuals sharing the same genetic mutation. Diverse sociocultural environments, such as the level of inclusivity of the scholar system, the time spent with family, and the intensity of the rehabilitative intervention provided, might influence their development diversely. This study examines the severity of RTT in people in Italy and Israel, countries with distinct contradictory approaches to caring for those with intricate disabilities, across two age groups. Data from 136 Italian and 59 Israeli girls and women with RTT were assessed and divided into two age categories: above and below 12 years. The RARS, a standardized RTT-specific clinical severity tool, was administered. Despite no differences in age and genetic characteristics, the Italian group showed better scores in the RARS motor and disease-related characteristics areas in both age groups. Moreover, the young Italian participants gathered better total RARS scores and emotional and behavioral characteristics area scores. Furthermore, the young group showed significantly less scoliosis, foot problems, and epilepsy than the older group. These findings endorse the inclusion of girls with RTT in the regular schooling system for a limited daily period, investing in high activity levels within the home and community environments, and suggest continuously providing the person with daily occasions of physical activity and socialization.
Meir Lotan, Moti Zwilling, and Alberto Romano
MDPI AG
(1) Background: One of the characteristics associated with Rett syndrome (RTT) is a fear of movement (FOM). Despite the grave consequences on health, function, and the caregiver’s burden associated with bradykinesia accompanying FOM, there is no specific FOM assessment tool for RTT. (2) Objective: To construct and assess the psychometric values of a scale evaluating FOM in RTT (Rett syndrome fear of movement scale—RSFMS). (3) Methods: Twenty-five girls aged 5–33, including a research group (N = 12 individuals with RTT) and control group (N = 13 typically developing girls at equivalent ages). The Pain and Discomfort Scale (PADS) and Facial Action Coding System (FACS) assessed the participants’ behavior and facial expressions in rest and movement situations. (4) Results: Significant behavioral differences were recorded in these rest and movement situations within the research groups using the RSFMS (p = 0.003), FACS (p = 0.002) and PADS (p = 0.002). No differences in reactions were found within the control group. The new scale, RSFMS, was found to show a high inter- and intra-rater reliability (r = 0.993, p < 0.001; r = 0.958, p < 0.001; respectively), good internal consistency (α = 0.77), and high accuracy (94.4%). (5) Conclusions: The new scale for measuring FOM in RTT, the RSFMS, was validated using the FACS and PADS. The RSFMS was found to be a tool that holds excellent psychometric values. The new scale can help clinicians working with individuals with RTT to plan appropriate management strategies for this population.
Meir Lotan, Jenny Downs, Michelle Stahlhut, and Alberto Romano
MDPI AG
Rett syndrome (RTT) is a complex neurodevelopmental X-linked disorder associated with severe functional impairments and multiple comorbidities. There is wide variation in the clinical presentation, and because of its unique characteristics, several evaluation tools of clinical severity, behavior, and functional motor abilities have been proposed specifically for it. This opinion paper aims to present up-to date evaluation tools which have specifically been adapted for individuals with RTT often used by the authors in their clinical and research practice and to provide the reader with essential considerations and suggestions regarding their use. Due to the rarity of Rett syndrome, we found it important to present these scales in order to improve and professionalize their clinical work. The current article will review the following evaluation tools: (a) the Rett Assessment Rating Scale; (b) the Rett Syndrome Gross Motor Scale; (c) the Rett Syndrome Functional Scale; (d) the Functional Mobility Scale—Rett Syndrome; (e) the Two-Minute Walking Test modified for Rett syndrome; (f) the Rett Syndrome Hand Function Scale; (g) the StepWatch Activity Monitor; (h) the activPALTM; (i) the Modified Bouchard Activity Record; (j) the Rett Syndrome Behavioral Questionnaire; and (k) the Rett Syndrome Fear of Movement Scale. The authors recommend that service providers consider evaluation tools validated for RTT for evaluation and monitoring to guide their clinical recommendations and management. In this article, the authors suggest factors that should be considered when using these evaluation tools to assist in interpreting scores.
Martina Favetta, Alberto Romano, Nicola Valè, Blazej Cieslik, Sara Federico, Alessia Girolami, Deborah Mazzarotto, Giorgia Pregnolato, Anna Righetti, Silvia Salvalaggio,et al.
Frontiers Media SA
The scientific literature on poststroke rehabilitation is remarkably vast. Over the last decades, dozens of rehabilitation approaches have been investigated. However, sometimes it is challenging to trace new experimental interventions back to some of the known models of motor control and sensorimotor learning. This scoping review aimed to investigate motor control models’ diffusion among the literature on motor recovery after stroke. We performed a literature search on Medline, Cochrane, Web of Science, Embase, and Scopus databases. The last search was conducted in September 2023. This scoping review included full-text articles published in English in peer-reviewed journals that provided rehabilitation interventions based on motor control or motor learning frameworks for at least one individual with stroke. For each study, we identified the theoretical framework the authors used to design the experimental treatment. To this aim, we used a previously proposed classification of the known models of motor control, dividing them into the following categories: neuroanatomy, robotics, self-organization, and ecological context. In total, 2,185 studies were originally considered in this scoping review. After the screening process, we included and analyzed 45 studies: 20 studies were randomized controlled trials, 12 were case series, 4 were case reports, 8 were observational longitudinal pilot studies, and 1 was an uncontrolled trial. Only 10 studies explicitly declared the reference theoretical model. Considering their classification, 21 studies referred to the robotics motor control model, 12 to the self-organization model, 8 to the neuroanatomy model, and 4 to the ecological model. Our results showed that most of the rehabilitative interventions purposed in stroke rehabilitation have no clear theoretical bases on motor control and motor learning models. We suggest this is an issue that deserves attention when designing new experimental interventions in stroke rehabilitation.
Andrea Nucita, Giancarlo Iannizzotto, Michela Perina, Alberto Romano, and Rosa Angela Fabio
MDPI AG
The use of telerehabilitation systems has shown a significant growth in the past years, demonstrating their crucial relevance in the time of the COVID-19 pandemic. Many devices and sensors have been proposed to analytically measure parameters for patient assessment, with limitations due to costs or feasibility. In this paper, we present a motor telerehabilitation system with computer vision-assisted markerless measures for patients with Rett syndrome. Twenty-one RTT (Rett syndrome) patients, with ages ranging from age 4 to 31 (Median: 12.50; IQR (interquartile range): 9.50–17.25) were recruited. The study follows a pre-test–post-test design, where the patients were submitted to a pre-test, treatment, post-test 1, treatment, post-test 2 procedure. Progress in patient outcomes was assessed by measuring joint passive range of movement (PRoM). Results show the reliability of our system, and the feasibility of a telerehabilitation treatment for RTT patients, with significant improvements in shoulder mobility and in elbow flexion and extension. Limited results in lower limbs suggest that home treatment should be fostered to reduce sedentary time.
Alberto Romano, Elena Ippolito, Martina Favetta, Meir Lotan, and Daniel Sender Moran
MDPI AG
Background: Gross motor function in Rett syndrome (RTT) is always limited. The complex clinical picture typical of most people with RTT requires intensive and specific rehabilitation programs. Previous reports on remotely supervised motor activity programs suggested positive outcomes for this population. The current article describes the impact of a remote-supervised motor activity program carried out by family members of individuals with RTT on achieving rehabilitation goals and improving gross and fine motor functioning and daily physical activity. Methods: Forty subjects with RTT followed a three-month remotely supervised motor activity program carried out by their family members at home after a three-month baseline period. After the end of the intervention, a three-month wash-out period was implemented. Rehabilitation goal achievement, motor functioning, and level of daily physical activity were measured. Results: 82.4% of rehabilitation goals were achieved or overachieved. Participants’ motor functioning and physical activity significantly increased after the intervention (p ˂ 0.001). Improvements were maintained after the wash-out phase. Conclusions: The proposed intervention was effective for people with RTT of various ages and severity levels. The results highlight the need for lifelong, individualized, daily based, and professionally supervised rehabilitation possibilities for individuals with RTT.
Moti Zwilling, Alberto Romano, Hay Hoffman, Meir Lotan, and Riki Tesler
Frontiers Media SA
BackgroundMost people with autism spectrum disorder (ASD) present at least one form of challenging behavior (CB), causing reduced life quality, social interactions, and community-based service inclusion.ObjectivesThe current study had two objectives: (1) to assess the differences in physiological reaction to stressful stimuli between adults with and without high-functioning ASD; (2) to develop a system able to predict the incoming occurrence of a challenging behaviors (CBs) in real time and inform the caregiver that a CB is about to occur; (3) to evaluate the acceptability and usefulness of the developed system for users with ASD and their caregivers.MethodsComparison between physiological parameters will be conducted by enrolling two groups of 20 participants with and without ASD monitored while watching a relaxing and disturbing video. To understand the variations of the parameters that occur before the CB takes place, 10 participants with ASD who have aggressive or disruptive CBs will be monitored for 7 days. Then, an ML algorithm capable of predicting immediate CB occurrence based on physiological parameter variations is about to be developed. After developing the application-based algorithm, an efficient proof of concept (POC) will be carried out on one participant with ASD and CB. A focus group, including health professionals, will test the POC to identify the strengths and weaknesses of the developed system.ResultsHigher stress level is anticipated in the group of people with ASD looking at the disturbing video than in the typically developed peers. From the obtained data, the developed algorithm is used to predict CBs that are about to occur in the upcoming 1 min. A high level of satisfaction with the proposed technology and useful consideration for further developments are expected to emerge from the focus group.Clinical trial registration[https://clinicaltrials.gov/], identifier [NCT05340608].
Martina Favetta, Alberto Romano, Susanna Summa, Alessandra Colazza, Silvia Minosse, Gessica Vasco, Enrico Castelli, and Maurizio Petrarca
Frontiers Media SA
BackgroundGait Analysis of healthy people, imitating pathological conditions while walking, has increased our understanding of biomechanical factors. The influence of the pelvis as a biomechanical constraint during gait is not specifically studied. How could mimicking a pelvic attitude influence the dynamic mechanical interaction of the body segments? We proposed an investigation of the pelvic attitude role on the gait pattern of typically developed people when they mimicked pelvic anteversion and posteroversion.Materials and methodsSeventeen healthy volunteers were enrolled in this study (mean age 24.4 ± 5.5). They simulated a pelvic anteversion and posteroversion during walking, exaggerating these postures as much as possible. 3D gait analysis was conducted using an optoelectronic system with eight cameras (Vicon MX, Oxford, United Kingdom) and two force plates (AMTI, Or-6, Watertown, MA, United States). The kinematic, kinetic, and spatio-temporal parameters were compared between the three walking conditions (anteversion, posteroversion, and normal gait).ResultsIn Pelvic Anteversion gait (PA) we found: increased hip flexion (p &lt; 0.0001), increased knee flexion during stance (p = 0.02), and reduction of ankle flexion-extension Range of Motion (RoM) compared with Pelvic Normal gait (PN). In Pelvic Posteroversion gait (PP) compared with PN, we found: decreased hip flexion-extension RoM (p &lt; 0.01) with a tendency to hip extension, decreased knee maximum extension in stance (p = 0.033), and increased ankle maximum dorsiflexion in stance (p = 0.002).ConclusionThe configuration of PA contains gait similarities and differences when compared with pathologic gait where there is an anteversion as seen in children with Cerebral Palsy (CP) or Duchenne Muscular Dystrophy (DMD). Similarly, attitudes of PP have been described in patients with Charcot-Marie-Tooth Syndrome (CMT) or patients who have undergone Pelvic Osteotomy (PO). Understanding the dynamic biomechanical constraints is essential to the assessment of pathological behavior. The central nervous system adapts motor behavior in interaction with body constraints and available resources.
Silvia Minosse, Martina Favetta, Alberto Romano, Alessandra Pisano, Susanna Summa, Tommaso Schirinzi, Gessica Vasco, Enrico Castelli, and Maurizio Petrarca
Frontiers Media SA
Background and ObjectiveAbsolute angle represents the inclination of a body segment relative to a fixed reference in space. This work compares the absolute and relative angles for exploring biomechanical gait constraints.MethodsGait patterns of different neuromotor conditions were analyzed using 3D gait analysis: normal gait (healthy, H), Cerebral Palsy (CP), Charcot Marie Tooth (CMT) and Duchenne Muscular Dystrophy (DMD), representing central and peripheral nervous system and muscular disorders, respectively. Forty-two children underwent gait analysis: 10 children affected by CP, 10 children by CMT, 10 children by DMD and 12 healthy children. The kinematic and kinetic parameters were collected to describe the biomechanical pattern of participants’ lower limbs. The absolute angles of thigh, leg and foot were calculated using the trigonometric relationship of the tangent. For each absolute series, the mean, range, maximum, minimum and initial contact were calculated. Kinematic and kinetic gait data were studied, and the results were compared with the literature.ResultsStatistical analysis of the absolute angles showed how, at the local level, the single segments (thigh, leg and foot) behave differently depending on the pathology. However, if the lower limb is studied globally (sum of the kinematics of the three segments: thigh, leg and foot), a biomechanical constraint emerges.ConclusionEach segment compensates separately for the disease deficit so as to maintain a global biomechanical invariance. Using a model of inter-joint co-variation could improve the interpretation of the clinical gait pattern.
Moti Zwilling, Alberto Romano, Martina Favetta, Elena Ippolito, and Meir Lotan
Frontiers Media SA
COVID-19 Lockdown was particularly challenging for most mothers of people with intellectual disabilities, including those with Rett syndrome (RTT), leading to feelings of abandonment from healthcare services of their children. Within those days, telerehabilitation has represented a valid alternative to support physical activity and treatment, supporting parents in structuring their children’s daily routine at home. This article aims to describe the well-being level of two groups of mothers of girls and women with RTT who were involved in a home-based remotely supervised motor rehabilitation program, respectively, before and during the COVID-19 Italian lockdown. Forty participants with classic RTT were recruited before the lockdown and randomly assigned to two groups that performed the intervention immediately before (Group 1) and during (Group 2) the lockdown, respectively. The intervention included an individualized daily physical activity program carried out for 12 weeks by participants’ parents and fortnightly supervised throughout Skype contacts to plan, monitor, and accommodate individual activities in the participant’s life at home. The short form Caregivers Well-Being Scale was collected for the mothers in each group 12 weeks before intervention (T1), at intervention initiation (T2), immediately after intervention termination (T3), as well as at 12 weeks after intervention termination (T4). Mothers of participants in the Group 1 showed a stable level of well-being across all four evaluations with a slight improvement during the lockdown, without significant change. Similarly, the well-being level of mothers in the Group 2 showed a statistically significant increase in their well-being between T2 and T3 (during the lockdown) and its reduction to the pre-intervention level between T3 and T4 (after the lockdown). The results suggest that the lockdown did not negatively affect the participants’ mothers’ well-being, leading to its improvement. Moreover, the proposed intervention could have supported the mothers in managing the new daily routine at home, positively affecting maternal well-being.
Alberto Romano, Martina Favetta, Susanna Summa, Tommaso Schirinzi, Enrico Silvio Bertini, Enrico Castelli, Gessica Vasco, and Maurizio Petrarca
MDPI AG
Background: Children with ataxia experience balance and movement coordination difficulties and needs intensive physical intervention to maintain functional abilities and counteract the disorder. Exergaming represents a valuable strategy to provide engaging physical intervention to children with ataxia, sustaining their motivation to perform the intervention. This paper aims to describe the effect of a home-conducted exergame-based exercise training for upper body movements control of children with ataxia on their ataxic symptoms, walking ability, and hand dexterity. Methods: Eighteen children with ataxia were randomly divided into intervention and control groups. Participants in the intervention group were asked to follow a 12-week motor activity program at home using the Niurion® exergame. Blind assessments of participants’ ataxic symptoms, dominant and non-dominant hand dexterity, and walking ability were conducted. Results: On average, the participants performed the intervention for 61.5% of the expected time. At the end of the training, participants in the intervention group showed improved hand dexterity that worsened in the control group. Conclusion: The presented exergame enhanced the participants’ hand dexterity. However, there is a need for exergames capable of maintaining a high level of players’ motivation in playing. It is advisable to plan a mixed intervention to take care of the multiple aspects of the disorder.
Alberto Romano, Elena Ippolito, Camilla Risoli, Edoardo Malerba, Martina Favetta, Andrea Sancesario, Meir Lotan, and Daniel Sender Moran
MDPI AG
Background: A scoliosis prevalence of 94% was reported in the population with Rett syndrome (RTT), with an annual progression rate of 14 to 21° Cobb which may result in pain, loss of sitting balance, deterioration of motor skills, and lung disfunction. This paper describes the efficacy of an intensive conservative individualized physical and postural activity program in preventing scoliosis curvature progression in patients with RTT. Methods: Twenty subjects diagnosed with RTT and scoliosis were recruited, and an individualized intensive daily physical activity program was developed for each participant. Each program was conducted for six months by participants’ primary caregivers in their daily living environment. Fortnightly remote supervision of the program implementation was provided by an expert therapist. Pre- and post-intervention radiographs and motor functioning were analyzed. Results: An averaged progression of +1.7° ± 8.7° Cobb, over one year (12.3 ± 3.5 months) was observed in our group, together with motor function improvements. A relation between curve progression and motor skill improvement was observed. Conclusions: The intervention prevented scoliosis progression in our group. The achievement of functional motor improvements could enable better body segment control and muscle balancing, with a protective effect on scoliosis progression. The intervention was effective for individuals with RTT across various ages and severity levels. Individual characteristics of each participant and the details of their activity program are described.
Alberto Romano, Gabriella Di Rosa, Adriana Tisano, Rosa Angela Fabio, and Meir Lotan
Informa UK Limited
PURPOSE
In this study, the effect of a remotely supervised, home-based, family-centered individualized rehabilitation program of motor activities for individuals with Rett syndrome (RTT) was evaluated.
MATERIALS AND METHODS
Thirteen participants with classic genetically confirmed RTT followed by a three-month program of motor activities at home. A total of 47 rehabilitative goals were set. Goals achievement, motor function, and parental satisfaction were evaluated. Each program was carried out by the participant's parents and remotely supervised via Skype calls, twice by a therapist experienced in RTT rehabilitation.
RESULTS
Thirty-seven (78.7%) rehabilitative goals were achieved or overachieved. Ten participants (76.9%) significantly increased their gross motor functional level with a medium size effect (0.604). Parental reports of the involved families suggest, on average, a high level of usefulness of the program (4.4/5), adherence to the program (4.4/5), and general satisfaction (4.5/5).
CONCLUSIONS
Our findings strongly support the implementation of such programs for this population. As these programs were remotely supervised, they can be implemented when the children are away from referenced facilities for long durations, such as during long holidays or a Covid-19 type lockdown.Implications for rehabilitationA remote supervised motor activity program carried out by the primary caregiver supports motor functioning in RTT.Therapists should consider family members' motivation to carry out the activities and integrate them into the family's daily routine.The program should be flexible to adapt to any sudden change in medical and environmental conditions, functional ability, and family members' motivational levels.
Meir Lotan, Elena Ippolito, Martina Favetta, and Alberto Romano
Frontiers Media SA
Individuals with Rett syndrome (RTT) experience impaired gross motor skills limiting their capacity. Therefore, they need support to participate in physical activities, and it is crucial to work with primary caregivers when developing appropriate strategies, thereby leading to an active lifestyle. There is limited evidence supporting the effectiveness of remotely supported physical activity interventions. This project aimed to evaluate the effects of a skype-based, telehealth-delivered physical activity program carried out by participants’ parents at home. This article will focus on parental points of view. A mixed-methods design evaluating parental satisfaction was conducted. Forty participants with a confirmed genetic diagnosis of RTT and their families were recruited. The intervention included a 12-week individualized daily physical activity program carried out by participants’ parents and bi-weekly supervised by expert therapists. Parents’ impressions and feelings related to the program implementation were collected throughout semi-structured interviews, and an ad hoc developed questionnaire and discussed. The current project results suggest that a remote physical rehabilitation program, supported fortnightly by video calls, represents an effective way of conducting a remote physical therapy intervention for this population and that it can be easily carried out at home by primary caregivers, promoting positive functional changes, without bringing feelings of frustration due to the required workload. The strategies that families have learned during the program to support the motor activities of their daughters represent an easily performed set of tools that they can maintain and use in everyday life even after the cessation of the program.
Tindara Caprì, Andrea Nucita, Giancarlo Iannizzotto, Fabrizio Stasolla, Alberto Romano, Martina Semino, Samantha Giannatiempo, Virginia Canegallo, and Rosa Angela Fabio
Springer Science and Business Media LLC
We conducted a systematic review of telerehabilitation (TR) interventions on children and young adults with multiple disabilities (MDs). This review aimed to (a) examine the effectiveness of telerehabilitation (TR) on adaptive skills that have been targeted for intervention, (b) describe the type of devices used in the intervention procedures, (c) summarize the outcomes, and (d) examine the consumer/professional satisfaction of TR. Eleven studies met inclusion criteria. Results suggested that TR is an effective tool in improving the adaptive skills of children and young adults with MDs. Boh consumers and professionals reported high levels of satisfaction and acceptance of TR services. Trends across different types of devices implemented in TR programs are considered and recommendations are made for future research.
Gennaro Tartarisco, Roberta Bruschetta, Susanna Summa, Liliana Ruta, Martina Favetta, Mario Busa, Alberto Romano, Enrico Castelli, Flavia Marino, Antonio Cerasa,et al.
Institute of Electrical and Electronics Engineers (IEEE)
Early onset ataxia represents a group of heterogeneous neurological conditions typically characterized by motor disability. Speech problems are one of the main core features of ataxic syndromes, where automatic and computational characterization of speech impairment might represent a source of biomarkers for early screening and stratification of patients. The main contribution of this paper consists in proposing a novel hierarchical machine learning model (HMLM) to improve detection and assessment of dysarthria from a structured speech disturbance test. Performances are tested on a new audio dataset containing 10 seconds recordings of standardized clinical PATA test for 55 subjects: 18 healthy subjects and 37 with ataxia. Results show that the proposed HMLM achieves performances with an accuracy of about 90% at the first level (healthy vs patients) selecting an optimal subset of conventional features. In cascade, at the second level, speech disturbance severity (Low vs High) is assessed using deep learning feature extraction technique based on a VGG pre-trained network with maximum accuracy of about 80%. Both levels are processed through the majority voting ensemble technique testing Support Vector Machine (SVM), k-Nearest Neighbors (kNN), Decision Tree (DT) and Naïve Bayes (NB). In our results, the use of HMLM considerably outperforms the results achieved with a single machine learning or deep learning modeling. These outcomes demonstrate that the investigation of the PATA speech test through HMLM can be considered very promising. We also observed that the use of conventional feature extraction techniques and machine learning modeling seems to be a good solution for the diagnosis of patients with ataxia, while the deep learning approach is more appropriate for stratification of severity of dysarthria.
Alberto Romano, Tindara Caprì, Martina Semino, Ilaria Bizzego, Gabriella Di Rosa, and Rosa Angela Fabio
Informa UK Limited
ABSTRACT In recent years, much attention has been paid to motor impairment of persons with Rett Syndrome (RTT), with increasing literature aimed to describe gross motor functioning and musculoskeletal disorders of the RTT population. The aim of this systematic review is to describe clinical evaluation tools used in the last decade to assess motor functioning and musculoskeletal abnormalities of patients with RTT. Thirty-four studies were reviewed and 20 tools were presented. Results showed that only two tools were used to measure functional change after rehabilitative or therapeutic interventions. This review underlies the lack of adequate evaluation tools to assess musculoskeletal abnormalities and deformities in RTT population. The absence of these assessments could be due to a statistical difficulty as it is challenging to build an evaluation tool that can score the entities of the abnormalities related to the amount of disability they cause.
S. Summa, G. Tartarisco, M. Favetta, A. Buzachis, A. Romano, G.M. Bernava, A. Sancesario, G. Vasco, G. Pioggia, M. Petrarca,et al.
Elsevier BV
BACKGROUND
Ataxic syndromes include several rare, inherited and acquired conditions. One of the main issues is the absence of specific, and sensitive automatic evaluation tools and digital outcome measures to obtain a continuous monitoring of subjects' motor ability.
OBJECTIVES
This study aims to test the usability of the Kinect system for assessing ataxia severity, exploring the potentiality of clustering algorithms and validating this system with a standard motion capture system.
METHODS
Gait evaluation was performed by standardized gait analysis and by Kinect v2 during the same day in a cohort of young patient (mean age of 13.8±7.2). We analyzed the gait spatio-temporal parameters and we looked at the differences between the two systems through correlation and agreement tests. As well, we tested for possible correlations with the SARA scale as well. Finally, standard classification algorithm and principal components analysis were used to discern disease severity and groups.
RESULTS
We found biases and linear relationships between all the parameters. Significant correlations emerged between the SARA and the Speed, the Stride Length and the Step Length. PCA results, highlighting that a machine learning approach combined with Kinect-based evaluation shows great potential to automatically assess disease severity and diagnosis.
CONCLUSIONS
The spatio-temporal parameters measured by Kinect cannot be used interchangeably with those parameters acquired with standard motion capture system in clinical practice but can still provide fundamental information. Specifically, these results might bring to the development of a novel system to perform easy and quick evaluation of gait in young patients with ataxia, useful for patients stratification in terms of clinical severity and diagnosis.
S. Summa, G. Tartarisco, M. Favetta, A. Buzachis, A. Romano, G.M. Bernava, G. Vasco, G. Pioggia, M. Petrarca, E. Castelli,et al.
Elsevier BV
Ataxic syndromes include several rare, inherited and acquired conditions. One of the main issues is the absence of specific, and sensitive automatic evaluation tools and digital outcome measures to obtain a continuous monitoring of subjects' motor ability. Gait evaluation was performed by Kinect v2 in a cohort of young participant affected by ataxia syndrome. The dataset is composed of the spatio-temporal parameters calculated by the skeleton acquired by the Kinect sensor, by the diagnosis of each participant, and by the total score of the clinical scale SARA. These parameters have been previously validated and corrected as requested by the Bland-Altman test.
Martina Rinaldi, Maurizio Petrarca, Alberto Romano, Gessica Vasco, Carmen D'Anna, Daniele Bibbo, Maurizio Schmid, Enrico Castelli, and Silvia Conforto
Elsevier BV
BACKGROUND
Duchenne muscular dystrophy is an X-linked muscle disease caused by dystrophin absence. Muscle weakness is a major determinant of the gait impairments in patients with Duchenne muscular dystrophy and it affects lower limbs more often than upper limbs. Monitoring progression of motor symptoms is key to plan treatments for prolonging ambulation.
METHODS
The progression of gait impairment in a group of ten patients with Duchenne muscular dystrophy was observed longitudinally three times over a period of 2 years by computerized gait analysis system. Spatio-temporal parameters of gait, and variability indicators were extracted from kinematics, while lower limb muscles coactivation were measured at the baseline and at each follow-up evaluation. The 6-min walk test was used to evaluate functional capacity at each time session.
FINDINGS
We found a significant increase in stride width and in both stride width and stride length variability at the 1-and 2-year follow-up evaluations. Furthermore, significant higher values in proximal muscle coactivation and significant lower values in both distal muscle coactivation and functional capacity were found at the 2-year follow-up evaluation. Significant negative correlations between muscle coactivation at proximal level and functional capacity and between muscle coactivation at distal level and gait variability were observed.
INTERPRETATION
Our findings suggest that patients with Duchenne muscular dystrophy exhibit decline in functional capacity after 2 years from the baseline. Moreover, to cope with disease progression, patients try to maintain an effective gait by changing the balance dynamic strategies (i.e. increase in proximal muscle coactivation) during the course of disease.
Susanna Summa, Tommaso Schirinzi, Martina Favetta, Alberto Romano, Silvia Minosse, Daria Diodato, Giorgia Olivieri, Diego Martinelli, Andrea Sancesario, Ginevra Zanni,et al.
Elsevier BV
BACKGROUND
Friedreich Ataxia (FRDA) and other inherited chronic ataxias (CAs) are common causes of early onset ataxias (EOA), a group of conditions still lacking effective therapies and biomarkers. Ocular saccades are considered a reliable paradigm of motor control, useful to track the functioning of underlying neural networks and serving as potential markers for neurological diseases.
NEW METHOD
A non-invasive video-oculography device (EyeSeeCam) was used to test saccadic parameters (latency, amplitude, duration, velocity) and peak velocity/amplitude ratio ("main sequence") in pediatric patients with FRDA, CAs and healthy controls, providing correlations with standard clinical scores.
RESULTS
Pattern of saccadic features differed between CA and FRDA. The main sequence analysis was impaired respectively in vertical saccades in CA, and in horizontal saccades in FRDA. In CA, the amplitude of vertical saccades was reduced, and the size inversely correlated with the Scale for the assessment and rating of ataxia (SARA) score. In FRDA the amplitude of horizontal saccades directly correlated with SARA score.
COMPARISON WITH EXISTING METHOD
EyeSeeCam allowed testing saccades easily and quickly even in pediatric patients with EOA.
CONCLUSIONS
The pattern of saccadic impairment differed between FRDA and CAs, resulting a prominent involvement of vertical saccades in CA and of horizontal ones in FRDA, which respectively correlated with SARA score. Since such differences may reflect distinct pathophysiological substrates, saccades emerged as a potential source of biomarkers in EOAs. Availability of handy tools, such as EyeSeeCam, may facilitate future research in this field.
Susanna Summa, Tommaso Schirinzi, Giuseppe Massimo Bernava, Alberto Romano, Martina Favetta, Enza Maria Valente, Enrico Bertini, Enrico Castelli, Maurizio Petrarca, Giovanni Pioggia,et al.
Elsevier BV
BACKGROUND AND OBJECTIVE
Early onset ataxias (EOAs) are a heterogeneous group of neurological conditions, responsible for severe motor disability in paediatric age, which still lack reliable outcome measures. Available scales to assess ataxia, such as the Scale for Assessment and Rating of Ataxia (SARA), are based on subjective assessment of specific motor and language tasks by an examiner, and therefore is age dependent and lacks accuracy in detecting small variations in disease severity. In last years, novel technologies, including computer interfaces and videogames, have emerged for clinical applications and the advent of Internet of Medical Things and of Information Communication Technology have allowed the remote control of such technologies. This pilot study describes a newly developed tool (SaraHome) for the assessment at home of EOA evaluating its feasibility and acceptability on a small sample of children.
METHODS
Ten EOA children and ten caregivers have been enrolled for a preliminary outpatient evaluation. The Microsoft Kinect 2.0 and Leap Motion Controller (LMC) connected to a personal computer with an ad hoc software have been set-up, for the acquisition of standardized motor tasks performed by the patients with the caregivers' assistance. Acceptance and practicability have been tested by QUEST 2.0 and IMI questionnaires in caregivers and patients respectively.
RESULTS
The SaraHome software was developed, based on a collection of services provided by a complex architecture that consists of a Restful interface, which enables to access a series of plugins for the execution of different tasks. A graphical user interface allows the acquisition of the patient movements while performing a motor task. A protocol of standard tasks inspired by SARA was established, and a system of video-assisted instruction provided. The set-up for the optimal acquisition of such protocol by Kinect and LMC has been defined. Both patients and caregivers accomplished the SaraHome assessment with good feedback at the technology acceptance questionnaires.
CONCLUSIONS
SaraHome represents a newly developed tool for the assessment of ataxia in patients, resulting from the integration of low-cost and easy-accessible technologies. This pilot application highlighted the feasibility and the acceptability of the system, suggesting the potential use in clinical practice.
Tommaso Schirinzi, Martina Favetta, Alberto Romano, Andrea Sancesario, Susanna Summa, Silvia Minosse, Ginevra Zanni, Enrico Castelli, Enrico Bertini, Maurizio Petrarca,et al.
Springer Science and Business Media LLC
Abstract Background The recessive ataxia ARCA2 is a rare disorder characterized by Coenzyme Q10 (CoQ10) deficiency due to biallelic mutations in ADCK3 gene. Despite the pathophysiological role, available data are not univocal on clinical efficacy of CoQ10 supplementation in ARCA2. Here we described the long-term motor outcome of 4 untreated ARCA2 patients prospectively followed-up for one year after starting CoQ10 oral supplementation (15 mg/kg/day). Methods Clinical rating scales (SARA; 9 holes peg test; 6 min walking test; Timed 25-Foot Walk) and videoelectronic gait analysis were performed at baseline and every 6 months (T0, T1, T2) to evaluate the motor performances. Since two patients discontinued the treatment at the 7th month, we could provide comparative analysis between longer and shorter supplementation. Results At T2, the gait speed (Timed 25-Foot Walk test) significantly differed between patients with long and short treatment; overall, the clinical condition tended to be better in patients continuing CoQ10. Conclusions Although preliminarily, this observation suggests that only prolonged and continuous CoQ10 supplementation may induce mild clinical effects on general motor features of ARCA2. Dedicated trials are now necessary to extend and validate such observation.