No abstract

No abstract

BACKGROUND: Coffin-Siris syndrome is a rare genetic disease with heterozygous variants in the ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCE1 or SOX11 genes. It may manifest with somatic anomalies, deafness, urogenital malformations, recurrent infections, mental retardation, speech deficit, agenesis of the corpus callosum, convulsions, hypotonia, developmental delay, and scoliosis. CASE REPORT: A 14-year-old boy with Coffin-Siris syndrome due to variants in the ARID1A gene was referred to the clinic. His rehabilitation over a 9-year period was described. The problem of assessment and the approach to rehabilitation was discussed, enabling a progressive remodelling of the cognitive-behavioural disorders that most hindered the possibility of his acquiring new skills and achieving social and family integration. CLINICAL REHABILITATION: A protracted, customised, multiprofessional rehabilitation approach, centred on realistic functional objectives, implemented with the direct involvement of the family and school, was the only way to achieve the maximum independence and social and family integration permitted by his residual disability.

Background Thesevere acute respiratory syndrome coronavirus-2 (SARS-CoV-2) represents the most recent severe pandemic resulting in coronavirus disease 2019 . COVID-19 can damage the central nervous system, requiring admission to intensive care units (ICU) and aggressive treatments (long-term ventilatory assistance and sedation) to stabilize vitals. Most post-COVID-19 patients experience cognitive impairments and mood or stress disorders. We aimed to study the frequency of cognitive deficits in COVID-19 survivors, the relationship between clinical factors in the acute phase and cognitive outcomes, affective states, and quality of life. We explored cognitive reserve (CR) role, as a post-COVID-19 resilience factor. Methods Twenty-nine COVID-19 inpatients were assessed using a neuropsychological battery, mood scales, quality of life, and social integration questionnaires. Twenty-five were retained through telephone follow-up to monitor cognitive sequelae, affective states, and reintegration levels roughly 8 months after hospital discharge. We administered the Cognitive Reserve Index questionnaire. Results We found most patients display no cognitive deficits. When they did, multi-domain impairment occurred most frequently, especially involving executive functions. Results revealed a significant correlation between depression levels and the interval between ICU admission and tracheal tube removal. We found increased levels of depression and anxiety at follow-up, a significant relationship between resuming daily life activities, high CR, and executive functions. Conclusions These findings suggest the importance of psychological support in the long term and the modulating role of cognitive reserve in quality of life after infection.

Objective: Symptoms of visuospatial neglect occur frequently after unilateral brain damage. Neglect hampers general rehabilitation progress and is associated with reduced quality of life. Some of the rehabilitation programs developed to treat neglect have demonstrated behavioral improvements. However, only a few of them have addressed specifically the anatomo-functional correlates associated behavioral improvement. Method: Here we describe the case of a patient (GV) with a severe left neglect disorder as a consequence of a right hemisphere stroke. Eighteen weeks after the onset, he underwent a 10-week intensive neuropsychological rehabilitation program. Functional MRI (fMRI) during execution of a covert attention task, and a broad neuropsychological assessment were conducted before and after the training. Results: The results show a significant improvement of the performance in neglect tasks after the rehabilitation program, although the remission of symptoms was not complete. fMRI data showed that the behavioral improvement was accompanied by an increase of activity in the dorsal premotor cortex and middle frontal gyrus bilaterally. Other activations were present only in the contralesional left hemisphere, including supplementary motor area and superior temporal gyrus. Conclusions: The implications of the results are discussed.