Repeated Motor Training on Attention Reaching Skills and Stereotypies in Rett Syndrome.

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.

The GAIRS Checklist: a useful global assessment tool in patients with Rett syndrome.

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.

Comparing Advanced with Basic Telerehabilitation Technologies for Patients with Rett Syndrome-A Pilot Study on Behavioral Parameters.

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.

Social and Cognitive Interactions Through an Interactive School Service for RTT Patients at the COVID-19 Time.

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.

Longitudinal cognitive rehabilitation applied with eye-tracker for patients with Rett Syndrome.

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.

Correlations between neurophysiological, behavioral, and cognitive function in Rett syndrome.

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.

The role of stereotypies in overselectivity process in Rett syndrome.

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.