The functional secondary effect after an integrated rehabilitative intervention to learn reading and writing in a girl with Rubinstein-Taybi syndrome.

PURPOSE: A case report of a six-year and five-month-old female admitted with typical symptoms of Rubinstein-Taybi syndrome is presented. Clinical and rehabilitation settings where she acquired her reading, writing, and communication skills are described. METHODS: Because of her cognitive disabilities, a multidisciplinary and long-term intervention (2014-2020) was necessary. Treatment included orthoptic, psychomotor, logopedic, occupational, and neuropsychological care. Her family and school were involved. RESULTS: Increased attention led to decreased dysfunctional behaviors. Test results are still below average, but there has been significant improvement. Better communication skills resulted from increased phonetic range, improved articulation, lexical-semantic structure, comprehension, and production of sentences. Digital technologies played a significant role in enhancing her communication skills, not just in social interactions but also in school activities. The patient is oriented in time and space with the help of agendas and calendars. She can express her needs and compose concise narratives. As a result of acquiring functional skills, she is better equipped to handle real-life situations, which has led to increased social and family activities. CONCLUSION: This case report highlights the importance of personalized rehabilitation programs. Obtaining an early genetic diagnosis is crucial for timely tailored rehabilitation, and any delays in this process can hinder progress.

Cognitive and psychological outcomes and follow-up in severely affected COVID-19 survivors admitted to a rehabilitation hospital.

BACKGROUND: The severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) represents the most recent severe pandemic resulting in coronavirus disease 2019 (COVID-19). 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.

Cognitive reserve index and functional and cognitive outcomes in severe acquired brain injury: A pilot study.

BACKGROUND: Many variables affect outcome after brain injury. Cognitive reserve (CR) is a subjective factor that reflects a set of personal characteristics and that differentiates individuals. It may influence an individual's capacity to react to brain injury. OBJECTIVE: To study the effects of cognitive reserve on functional and cognitive outcome at the end of rehabilitation, in patients with severe acquired brain injury (sABI), by means of the Cognitive Reserve Index questionnaire (CRIq). METHODS: We report a retrospective study of a continuous series of sABI patients on first admission to a rehabilitation center. Disability and cognitive outcomes were recorded. RESULTS: In the 94 patients enrolled, the assessments after rehabilitation showed a significant gain measured with the disability Rating Scale for patients with a higher CR (CRIq≥ 85). A significant negative correlation was found: between CRIq scores and the interval elapsing before first access to neuropsychological assessment, between CRIq scores, especially level of education, and tests that measure the same domain (attention). CONCLUSIONS: Improvements in overall and cognitive disability emerged, but CR did not seem to substantially influence outcome in this sample of patients. This result may be partly due to the clinical severity of the population studied and the sample's dimension, although quantitatively representative of the population.

The importance of assessing parent stress in families with children with severe neuromotor and intellectual disability - a pilot study.

Parent-related stress represents the level of dysfunction in the parent-child system related to the parents' functioning. The aim of this retrospective pilot study was to assess the degree of stress perceived by mothers and fathers, in the framework of a family-centred approach to rehabilitation.We considered 43 parents of 29 children with cerebral palsy, genetic disorders or brain injury admitted to a neurological rehabilitation center. Parenting stress was assessed with the Parenting Stress Index - Short Form (PSI-SF) self-report questionnaire and a semi-structured investigation of situational stress factors of the family. The cognitive and motor disability of the children were assessed with the Diagnostic and Statistical Manual of Mental Disorders 5(DSM-5) and the Gross Motor Function Classification System-(GMFCS), respectively.The results showed that parental stress is directly correlated with the level of cognitive and behavioral disability and not with motor disability. No significant difference was found in the level of stress perceived by mothers and fathers. The effect of a worsening occupational situation seemed to influence the perception of stress more than a change in the formal relationship of the couple, but neither was statistically significant.

Rehabilitation in a rare case of coffin-siris syndrome with major cognitive and behavioural disorders.

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.

Rehabilitation of unilateral spatial neglect: A combined behavioral and fMRI single-case study.

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. (PsycINFO Database Record (c) 2019 APA, all rights reserved).