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.

Role of vehicle assistive devices for safe return to driving after severe acquired brain injury.

BACKGROUND: Driving is a complex activity that requires a wide range of cognitive, behavioral, sensory and motor competences that are often impaired in cases of severe acquired brain injury (sABI). A safe return to driving is an objective significantly correlated with recovery of personal independence and social-occupational role. AIM: The study investigated elements predictive of the possibility of a safe return to driving after sABI, concentrating on motor disability and the need to prescribe vehicle assistive devices. DESIGN: Retrospective study. SETTING: Out-patients of a rehabilitation center for sABI. POPULATION: A series of 217 patients with stable sABI, well reintegrated at family and social level, were enrolled between January 2006 and June 2019. METHODS: The subjects were assessed for residual competences. Those who passed assessment of cognitive-behavioral and visual impairment were assessed for motor disability and the need for vehicle assistive devices to enable a safe return to driving. RESULTS: About 79% of the population were judged suitable for a return to driving. More than 50% of the latter were only able to return to driving with the aid of vehicle assistive devices. Etiological and demographic variables were not predictive of assessment outcome, whereas the various Griffith motor disability categories were correlated with need for vehicle assistive devices, which are most needed in non-traumatic subjects. CONCLUSIONS: Although the literature on return to driving after brain injury focuses mainly on cognitive-behavioral impairment, in a significant percentage of cases it is also necessary to carefully analyse and manage motor disabilities that may result from sABI. CLINICAL REHABILITATION IMPACT: Evaluation of the competences necessary for a return to driving after sABI requires a multiprofessional team that must also assess motor disability and know the possible vehicle assistive devices that can enable most candidates to overcome the limits imposed by their disability.