Use of a low-tech tool in the improvement of social interaction of patients with Rett Syndrome: an observational study.

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.

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.

Effects of Combined Transcranial Direct Current Stimulation with Cognitive Training in Girls with Rett Syndrome.

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.

Gross Motor, Physical Activity and Musculoskeletal Disorder Evaluation Tools for Rett Syndrome: A Systematic Review.

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.