Quality of life, socioeconomic and psychological concerns in parents of children with tuberous sclerosis complex, STXBP1 and SYNGAP1 encephalopathies: a mixed method study.

Background: Developmental and Epileptic Encephalopathies (DEEs) occur in childhood and are associated with severe epileptic seizures and neurological impairment. The aim of this study was to combine quantitative and qualitative methodologies to comprehensively describe factors related to quality of life, impact on the family and psychosocial factors in parents of children with TSC, STXBP1 and SYNGAP1 variants. Methods: A convergent parallel mixed design including parents of children with DEE. In the cross-sectional study, 20 parents (10STXBP1, five SYNGAP1, five TSC) were given questionnaires on quality of life, impact on the family and psychological factors. In the descriptive qualitative study, in-depth interviews were conducted with 18 parents (nine STXBP1, five TSC, four SYNGAP1) using a semi-structured questionnaire. A thematic analysis was carried out. The results of the two studies were combined by showing similarities and differences through tables, figures, accounts, and joint displays. Results: In terms of quality of life, the integrated results were consistent in highlighting the importance of family interaction, although in the qualitative section the influence of the relationship between the children's siblings, the relationship with health professionals and the difficulties in obtaining public aid were highlighted. In terms of impact, the integrated results show that the illness has a significant impact on the family; the financial burden is highlighted, and the experience of the illness is discussed in depth. Finally, the psychological aspects, symptoms such as anxiety, stress and strain, were consistent. Most of the participants reported sleep disturbance, as identified in the questionnaire, although not mentioned in the interviews. Conclusions: The combined results of the mixed method provide an in-depth analysis of the impact of DEEs on parents of children with STXBP1, SYNGAP1 and TSC.

Innate Muscle Patterns Reproduction During Afferent Somatosensory Input With Vojta Therapy in Healthy Adults. A Randomized Controlled Trial.

OBJECTIVE: Vojta therapy describes stereotypic widespread motor responses as a pattern of tonic muscle contractions during a peripherical pressure stimulation. The present work proposes to characterize the responses at muscles level to a specific tactile input based on Vojta therapy, assessed by sEMG, compared to a sham stimulation in healthy subjects. METHODS: Surface electromyography (sEMG) signal was acquired with dipolar electrodes placed at wrist extensors of both forearms, right tibialis anterior, and top part of rectus abdominus, ground channel placed over the right olecranon. It was amplified and digitized by a 4-channel hub Biosignalsplux device (Plux Wireless Biosignals S.A., Lisboa, Portugal), sampled at 1000 Hz with 16-bit per channel. A continuous 10-minute record of the sEMG signal from the four electrodes were registered. Resting EEG during the first minute before the stimulation period was recorded by 64 active electrodes. RESULTS: Statistically significant differences were showed between sham and experimental group. Experimental group participants were subjected to cluster analysis based on their muscle activation patterns, generating three different models of activation. Differences in the previous resting cortical activity in left superior frontal area were found between clusters that activated limb muscles and the cluster that did not. CONCLUSIONS: Vojta specific stimulation area activates innate muscle responses assessed by sEMG in healthy subjects, compared to a sham stimulation. SIGNIFICANCE: This characterization might be helpful to the prescription and application of Vojta therapy in an individual-basis for non-neurophysiologically damaged adult subjects.

Cortical activity during sensorial tactile stimulation in healthy adults through Vojta therapy. A randomized pilot controlled trial.

BACKGROUND: Brain's is stimulated by Vojta Therapy through selected body areas activating stored innate motor programs which are exported as coordinate movement and muscle contractions to trunk and limbs. The aim of this pilot study is to know the responses at cortical level to a specific tactile input, assessed by electroencephalography (EEG), compared to a sham stimulation, in healthy subjects. METHODS: A randomized-controlled trial was conducted. Participants were randomly distributed into two groups: a non-specific tactile input-group (non-STI-group) (n = 20) and a Vojta specific tactile input-group (V-STI-group) (n = 20). The non-STI-group was stimulated in a non specific area (quadriceps distal area) and V-STI-group was stimulated in a specific area (intercostal space, at the mammillary line between the 7th and 8th ribs) according to the Vojta therapy. Recording was performed with EEG for 10 min considering a first minute of rest, 8 min during the stimulus and 1 min after the stimulus. EEG activity was recorded from 32 positions with active Ag/AgCl scalp electrodes following the 10-20 system. The continuous EEG signal was split into consecutive segments of one minute. RESULTS: The V-STI-group showed statistically significant differences in the theta, low alpha and high alpha bands, bilaterally in the supplementary motor (SMA) and premotor (PMA) areas (BA6 and BA8), superior parietal cortex (BA5, BA7) and the posterior cingulate cortex (BA23, BA31). For the V-STI-group, all frequency bands presented an initial bilateral activation of the superior and medial SMA (BA6) during the first minute. This activation was maintained until the fourth minute. During the fourth minute, the activation decreased in the three frequency bands. From the fifth minute, the activation in the superior and medial SMA rose again in the three frequency bands CONCLUSIONS: Our findings highlight that the specific stimulation area at intercostal space, on the mammillary line between 7 and 8th ribs according to Vojta therapy differentially increased bilateral activation in SMA (BA6) and Pre-SMA (BA8), BA5, BA7, BA23 and BA31 in the theta, low and high alpha bands in healthy subjects. These results could indicate the activation of innate locomotor circuits during stimulation of the pectoral area according to the Vojta therapy. Trial registration Retrospectively registered. This randomized controlled trial has been registered at ClinicalTrials.gov Identifier: NCT04317950 (March 23, 2020).