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Introduction: The main aim of the present study was to examine whether the use of a low-tech tool, called click4all, inserted into cognitive and motor training can increase social interaction of patients with Rett Syndrome (RTT) with classmates in a school setting., Methods: Twenty-seven participants with RTT were randomly assigned to two groups: the experimental group received treatment with click4all, and the control group received traditional treatment without click4all. Parameters were measured before treatment (T1), 6 months after treatment (T2), 6 months after the second treatment phase (T3) and at the end of the third treatment phase (T4)., Results: The results demonstrated an increase in levels of social interaction among classmates and patients with RTT in the experimental group, over time, compared to the control group, 95% CI [5.20-15.30]. Classmates also showed a higher level of knowledge related to participants of the experimental group, and this increased over time, 95% CI [24.98-63.52]. The level of knowledge related to the control group was stable over time and lower than the experimental group., Discussion: This study demonstrated that the use of a low-tech tool can increase social interactions of patients with RTT in a school setting. This is important, as patients with RTT are often restricted in an isolation condition., Competing Interests: GZ was employed by Fondazione Asphi. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Caprì, Dovigo, Semino, Lotan, Mohammadhasani, Zamarra and Fabio.)

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.

Background: Rett Syndrome (RTT) is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births. Severe physical, language, and social impairments impose a wide range of limitations in the quality of life of the patients with RTT. Comorbidities of patients with RTT are varied and cause a lot of pain, but communicating this suffering is difficult for these patients due to their problems, such as apraxia that does not allow them to express pain in a timely manner, and their difficulties with expressive language that also do not permit them to communicate. Two studies, a pilot study and a single case study, investigate the manifestation of pain of patients with RTT and propose a suitable scale to measure it., Aims of This Study: The first aim was to describe pain situations of RTT by collecting information by parents; the second aim was to test and compare existing questionnaires for non-communicating disorders on pain such as Pain assessment in advanced demenzia (PAINAD), the Critical care pain observation tool (CPOT) and the Non-communicating Children's Pain Checklist-Revised (NCCPC-R) to assess which of them is best related to the pain behavior of patients with RTT. The third aim was to identify the specific verbal and non-verbal behaviors that characterize pain in girls with Rett syndrome, discriminating them from non-pain behaviors., Method: Nineteen participants, eighteen girls with RTT and one girl with RTT with 27 manifestations of pain were video-recorded both in pain and base-line conditions. Two independent observers codified the 90 video-recording (36 and 54) to describe their behavioral characteristics., Results: The two studies showed that the most significant pain behaviors expressed by girls with respect to the baseline condition, at the facial level were a wrinkled forehead, wide eyes, grinding, banging teeth, complaining, making sounds, crying and screaming, and the most common manifestations of the body were tremors, forward and backward movement of the torso, tension in the upper limbs, increased movement of the lower limbs and a sprawling movement affecting the whole body., Conclusion: The results of the two studies helped to create an easy-to-apply scale that healthcare professionals can use to assess pain in patients with Rett's syndrome. This scale used PAINAD as its basic structure, with some changes in the items related to the behavior of patients with RTT., (© 2022. The Author(s).)

Background: Rett Syndrome is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births. Severe physical, language, and social impairments impose a wide range of limitations in the assessment of the abilities of Rett patients. This study proposes an analysis and first validation of a Global Assessment and Intervention in Rett syndrome (GAIRS) Checklist for assessing behavioral, intellectual, academic, neuropsychological and psychosocial manifestations in patients with Rett Syndrome. We administered the GAIRS Checklist to 113 Italian patients with Rett Syndrome aged 4-42., Aims of This Study: To examine the psychometric characteristics of the GAIRS Checklist. Moreover, the aim is also to examine the validity of GAIRS with test-retest correlation, convergent validity with similar functional measurements, such as the Vineland scales, and divergent validity with severity of disease scale, such as the RARS scale and severity of neuropsychiatric evaluations., Results: All 10 subscales of GAIRS were positively and significantly related to each other and to the total GAIRS score, and the subscales showed high levels of Cronbach's alpha values (from .77 to .95). Principal axis factoring suggested two factors that explain 60% of the variance. Test-retest reliability is 0.82. This means that psychometric properties are reliable. Correlation for Concurrent validity with Vineland score was high and Divergent Validity with RARS was also high., Conclusion: The GAIRS Checklist used for Rett syndrome is acceptable and feasible to complete assessment in a clinical setting. Moreover, it can detect the complexity of this disease and may suggest the next step in terms of specific training in Rett syndrome., (© 2022. The Author(s).)

The aim of this study is to compare the performances of patients with Rett syndrome that were undergoing advanced telerehabilitation (ATR) and patients that were undergoing basic telerehabilitation (BTR). It was hypothesized that patients that were undergoing ATR training would have better improvement in nearly all the motor and cognitive scale scoring activities that were administered, thus showing reduced disability. A total of 20 young girls and women with a diagnosis of RTT, ranging from age 4 to 31 years old (Median: 12.50; IQR: 9.50-17.25) underwent a pre-test, treatment post-test 1, treatment, and post-test 2 procedure. The treatment consisted of either ATR or BTR, lasting 10 weeks with three sessions a week of about an hour. The results showed that the group with advanced telerehabilitation improved their performance better than the control group only in some neuropsychological measurements. The results are discussed in the light of critical factors of telerehabilitation.

Background: Since subjects with Rett syndrome (RTT) focus their attention mainly on the faces of people with whom they interact, in this study the role of a human-like smart interactive agent (an avatar) in enhancing cognitive processes is examined. More in depth, this study aimed to understand if, and to what extent, the use of an avatar can improve attention and memory abilities in subjects with RTT., Method: Thirty-six subjects with RTT participated in the study. All participants performed over-selectivity and memory tasks, for a total of six trials. These trials were randomly presented in two different conditions: with and without virtual avatar., Results: The results indicated that the participants improved their attention and memory abilities when they performed the tasks with the avatar. There were no improvements when they performed the tasks without the avatar., Discussion: The results were discussed considering the relationship between motivation, attention and memory in RTT.

Background: longitudinal effects of cognitive rehabilitation in Rett Syndrome (RTT) have been poorly investigated and the mechanisms do not appear to have been described in detail., Aims: the aim of this study was to examine the effects of cognitive rehabilitation with eye-tracker technology on attention, choice behaviours and language over a 2-year period in patients with RTT., Methods and Procedures: 28 participants with RTT, ranging from age 4-22 years old (M = 13.85 years, SD = 5.89), received 30 min of cognitive rehabilitation with eye-tracker for 3 days a week over a 1-month for 2 years. They then underwent cognitive assessment to evaluate attention, choice, language and global functioning in four specific times: before cognitive rehabilitation (T1), after six months of cognitive rehabilitation (T2), six months after the second cognitive rehabilitation phase (T3) and at the end of the third cognitive rehabilitation phase (T4)., Outcome and Results: patients with RTT show long-term improvements in seconds of attention and number of choice behaviours, with barely any improvement in global functioning. No improvement in language was found., Conclusions and Implications: this is the first study aimed at examining longitudinal effects of cognitive rehabilitation in patients with RTT, demonstrating a linear improvement across time in attention and choice., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

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.

Background: this study was based on both neurophysiological decelerated activity and communication deficits in Rett Syndrome (RTT)., Aims: the aim was to examine the neurophysiological and cognitive effects of Transcranial Direct Current Stimulation (tDCS) in three girls with RTT with chronic language impairments., Methods and Procedures: we proposed an integrated intervention: tDCS and cognitive empowerment applied to language in order to enhance speech production (new functional sounds and new words). Because maximal gains usually are achieved when tDCS is coupled with behavioral training, we applied tDCS stimulation on Broca's area together with linguistic training., Outcomes and Results: the results indicated a general enhancement in language abilities (an increase in the number of vowel/consonant sounds and words and the production and comprehension through discrimination), motor coordination (functional movements), and neurophysiological parameters (an increase in the frequency and power of alpha, beta and theta bands)., Conclusion and Implications: we assume that tDCS stimulation combined with the cognitive empowerment applied to language can significantly influence a chronic impairment even in genetic syndromes. Our results provide data that support the role of tDCS in fostering brain plasticity and in particular in empowering speech production and comprehension in girls with RTT., (Copyright © 2018 Elsevier Ltd. All rights reserved.)

Rett syndrome (RS) is a childhood neurodevelopmental disorder characterized by a primary disturbance in neuronal development. Neurological abnormalities in RS are reflected in several behavioral and cognitive impairments such as stereotypies, loss of speech and hand skills, gait apraxia, irregular breathing with hyperventilation while awake, and frequent seizures. Cognitive training can enhance both neuropsychological and neurophysiological parameters. The aim of this study was to investigate whether behaviors and brain activity were modified by training in RS. The modifications were assessed in two phases: (a) after a short-term training (STT) session, i.e., after 30 min of training and (b) after long-term training (LTT), i.e., after 5 days of training. Thirty-four girls with RS were divided into two groups: a training group (21 girls) who underwent the LTT and a control group (13 girls) that did not undergo LTT. The gaze and quantitative EEG (QEEG) data were recorded during the administration of the tasks. A gold-standard eye-tracker and a wearable EEG equipment were used. Results suggest that the participants in the STT task showed a habituation effect, decreased beta activity and increased right asymmetry. The participants in the LTT task looked faster and longer at the target, and show increased beta activity and decreased theta activity, while a leftward asymmetry was re-established. The overall result of this study indicates a positive effect of long-term cognitive training on brain and behavioral parameters in subject with RS., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

Mutations in MECP2 gene cause Rett syndrome (RTT), a neurodevelopmental disorder affecting around 1 in 10,000 female births. The clinical picture of RTT appears quite heterogeneous for each single feature. Mutations in MECP2 gene have been associated with the onset of RTT. The most known gene function consists of transcriptional repression of specific target genes, mainly by the binding of its methyl binding domain (MBD) to methylated CpG nucleotides and recruiting co-repressors and histone deacetylase binding to DNA by its transcription repressor domain (TRD). This study aimed at evaluating a cohort of 114 Rett syndrome (RTT) patients with a detailed scale measuring the different kinds of impairments produced by the syndrome. The sample included relatively large subsets of the most frequent mutations, so that genotype-phenotype correlations could be tested. Results revealed that frequent missense mutations showed a specific profile in different areas of impairment. The R306C mutation, considered as producing mild impairment, was associated to a moderate phenotype in which behavioural characteristics were mainly affected. A notable difference emerged by comparing mutations truncating the protein before and after the nuclear localization signal; such a difference concerned prevalently the motor-functional and autonomy skills of the patients, affecting the management of everyday activities., (Copyright © 2014 Elsevier Ltd. All rights reserved.)

Rett syndrome, a neurodevelopmental disorder affecting mainly females, is caused by a mutation of the MeCP2 gene. Girls with Rett syndrome manifest diverse behavioral and cognitive phenotypes, and the reasons for this variability remain unknown. In addition, girls with Rett syndrome often have epileptic seizures and abnormal EEGs, the characteristics of which differ with the patient. The aim of the study was to verify if neurophysiological and epileptological characteristics could be correlated with cognitive measures, obtained using eye tracker technology, and behavioral scores (Vineland Adaptive Behavior Scales and Rett Assessment Rating Scale) in 18 patients with Rett syndrome (mean age 13.7 years) at clinical stages III and IV. Age at epilepsy onset and seizure frequency were strictly correlated with neuropsychological outcome, as were EEG stage and distribution of paroxysmal abnormalities. Our findings demonstrate that neurophysiological features should be considered prognostic of cognitive and behavioral outcome in the clinical management of Rett syndrome., (Copyright (c) 2010 Elsevier Inc. All rights reserved.)

Ten Rett syndrome (RS) girls and 10 control girls executed an attentional task in which a complex stimulus was shown followed by individual stimuli presented with distractors. Participants had to discriminate previously presented stimuli from distractors. RS girls carried out the task both in a condition with the containment of stereotypies and in a no-containment condition. Overselectivity occurred in RS since patients failed to discriminate about 1/3 of the individual stimuli. There were no statistical differences with respect to the number of correct responses in the two conditions; RS girls learned quickly when their stereotypies were contained as opposed to when the containment of stereotypies was lacking.

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Background: Few studies investigated the effect of a structured and specific training for upper limb motor skills allowing complex movements such as reaching and grasping. Objective: The aim of this study was to examine the effects of motor training on attention, reaching skills, and stereotypies in patients with Rett syndrome (RTT). Methods: Twenty‐eight participants with RTT underwent cognitive and motor assessment to evaluate attention, reaching skills and stereotypies with an ABABABA design: before training (pre‐test phase), after a month of training (post‐test phase 1), after a month of the second training phase (post‐test phase 2) and at 1 month after the third training phase (post‐test phase 3). In all three B phases, participants received 30 minutes of motor training for 5 days a week over a 1‐month period. Results: Patients with RTT show long‐term improvements in seconds of attention and reaching skills and decreases in the intensity of stereotypies. Conclusions: This study suggests that motor abilities of participants with RTT can be improved with repeated, individual, well‐structured training. [ABSTRACT FROM AUTHOR]

Background: The closure of all educational institutions and most rehabilitation centres represents a precautionary measure to face the COVID-19 pandemic, but the isolation and social distancing may be particularly challenging for children with special needs and disabilities (SEND), such as Rett Syndrome (RTT). The main aim of this study was to promote cognitive and social interactions among children with RTT through an interactive school program. Methods: The Interactive School palimpsest was composed of moments in which a teacher spoke directly to children with RTT and expected a response through eye gaze, and moments in which storeys-cartoon were presented while tracking the eye gaze of children. We investigated behavioural, social and cognitive parameters. Results: Children participated in both social and cognitive tasks with the spontaneous reduction of stereotypies and with increase in attention. They recalled more significant indexes when music or a song was presented together with a cartoon or a cognitive task. Conclusions: This study provides initial insights in promoting cognitive and social interactions and in the support needs of families with a child with RTT during the COVID-19 pandemic. [ABSTRACT FROM AUTHOR]

Rett Syndrome (RTT) is a developmental disorder, predominantly affecting girls, which causes Intellectual Disability and neuro-behavioral disability. Individuals with RTT present with apraxia and movement disorders and most of them are unable to speak, walk and use their hands. For these reasons, eye tracker technology is being increasingly used to their assess cognitive processes. The aim of this study was to investigate three cognitive processes in girls with RTT compared with typical developing girls (TD): the ability to attend to visual stimuli, the ability to identify the same stimuli and the ability to identify the similar stimuli. With the help of Eye Tracker technology, three tasks were administered (1. Attention; 2. Identification of the same stimuli; 3. Identification of the similar stimuli) to 21 girls with RTT, compared with TD girls. Results show that girls with RTT performed worse than girls with TD in all conditions. The absence of significant interactions between group and type of task and between groups and contents indicates that the attention behavior in girls with RTT can reflect a general delay in cognitive maturation. [ABSTRACT FROM AUTHOR]

The aim of this research paper is to investigate Theory of Mind (ToM) capacities with Rett Syndrome (RS), which is similar to autism yet with more significant impairments. RS patients can best be described as hardly ever advancing past the sensorimotor stage, or the period described by Piaget between birth and eighteen months during which an infant's knowledge of the world is limited to sensory perceptions and motor activities with behaviours that consist of simple motor responses caused by sensory stimuli. Nevertheless, single-case studies have shown that RS patients can develop a mentalistic understanding of others if properly trained. To further advance this finding, non-trained RS female children completed a false belief task appositely devised with a non-verbal answering mode familiar to RS girls. Results show that RS girls are better on this type of false belief task than a control group of autistic children, whose deficit in ToM understanding is well-documented in literature. Our findings, though preliminary, may be a first step towards a better understanding of the differences between RS and autism in mental state reasoning, opening new topics of research and intervention in ToM with severe clinical conditions. [ABSTRACT FROM AUTHOR]

Abstract: The study of selective attention and its influence on communication in patients with Rett Syndrome (RS), in which communication abilities are impaired is particularly relevant. The aim of this study was to analyse attention and communication abilities in RS. A sample of 20 children (10 girls with RS and 10 control girls, matched on mental age) were tested on both attention and non-verbal communication abilities. Results showed that girls with RS have specific deficits in the ability to attend selectively to the relevant sources of information, and that they pay attention to irrelevant stimuli. Results related to non-verbal communication partially show specific impairment in girls with RS. Educational implications are discussed. [Copyright &y& Elsevier]

In the attempt to mitigate the effects of COVID-19 lockdown, most countries have recently authorized and promoted the adoption of e-learning and remote teaching technologies, often with the support of teleconferencing platforms. Unfortunately, not all students can benefit from the adoption of such a surrogate of their usual school. We were asked to devise a way to allow a community of children affected by the Rett genetic syndrome, and thus unable to communicate verbally, in writing or by gestures, to actively participate in remote rehabilitation and special education sessions by exploiting eye-gaze tracking. As not all subjects can access commercial eye-tracking devices, we investigated new ways to facilitate the access to eye gaze-based interaction for this specific case. The adopted communication platform is a videoconferencing software, so all we had at our disposal was a live video stream of the child. As a solution to the problem, we developed a software (named SWYG) that only runs at the "operator" side of the communication, at the side of the videoconferencing software, and does not require to install other software in the child's computer. The preliminary results obtained are very promising and the software is ready to be deployed on a larger base. While this paper is being written, several children are finally able to communicate with their caregivers from home, without relying on expensive and cumbersome devices. [ABSTRACT FROM AUTHOR]

Background: Transcranial Direct Current Stimulation (tDCS) combined with traditional rehabilitative techniques has not been widely applied to Rett Syndrome (RTT). The aim of this study was to examine the effects of combined cognitive traditional training with tDCS applied to attention and language measures in subjects with RTT. Methods: 31 subjects with RTT were randomly allocated into two groups: non-sham tDCS (n = 18) and sham tDCS (n = 13). The former received the integrated intervention non-sham tDCS plus cognitive empowerment during the treatment phase. The latter received sham stimulation plus cognitive empowerment. All participants underwent neurological and cognitive assessment to evaluate attention and language measures: before integrated treatment (pre-test phase), at the conclusion of the treatment (post-test phase), and at 1 month after the conclusion of the treatment (follow-up phase). Results: the results indicated longer attention time in the non-sham tDCS group compared to the sham tDCS group with a stable trend also in the follow-up phase; an increase of the number of vowel/phoneme sounds in the non-sham tDCS group; and an improvement in the neurophysiological parameters in the non-sham tDCS group. Conclusions: This study supports the use of tDCS as a promising and alternative approach in the RTT rehabilitation field. [ABSTRACT FROM AUTHOR]

Telerehabilitation (TR) has been proven to be an effective tool in improving the adaptive skills of children and young adults with Multiple Disabilities (MDs). The application of a comprehensive set of new technologies reveals new opportunities for both physical and cognitive telerehabilitation, but there is no holistic approach in the case of genetic syndromes. In this paper we present reflections and early results of the TCTRS project that aims at implementing a telerehabilitation system capable of offering complete coverage of rehabilitation needs for people with Rett Syndrome, from both the physical and cognitive points of view. Moreover, the data acquired through the system can also represent a basis for machine learning applications to remotely support therapists and physicians. Our first tests on the system application show the great potential of our approach, in terms of feasibility and applicability, for both rehabilitation centers and families. [ABSTRACT FROM AUTHOR]

The "Interactive School" project originated in a historical moment in which Italy and almost all countries in the world are experiencing and facing the fear of coronavirus disease 2019 (COVID-19) contagion. Many countries, including Italy, have imposed the closure of schools, universities, and all centers that host patients with Rett Syndrome (RTT), a rare disease that heavily impacts on autonomy, mobility, and some cognitive and communication abilities of the affected subjects. As a consequence, we decided to launch a remotely operated, Interactive School program specifically oriented to Rett patients, and in this article, we briefly provide a report of the ongoing activity. The Interactive School project exploits an easy-to-use technological system designed to be as acceptable as possible for families with RTT patients. We are currently using this system with positive feedback from both families and patients. This is encouraging and confirms the design and realization choices. [ABSTRACT FROM AUTHOR]