RESUMO
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.
RESUMO
Late recovery of consciousness in vegetative state is considered as an exceptional outcome and has been reported prevalently in patients who suffered a traumatic brain injury. In these patients, the benefits of prolonging the rehabilitation, aimed at the recovery of autonomy in basic everyday activities, has been demonstrated. Here, we describe the application of an intensive multi-professional rehabilitation program carried out on a young female patient, with exceptionally late recovery of consciousness, specifically, after 7 years of vegetative state due to severe brain hemorrhage. Neuropsychological and functional assessment was conducted before and after the end of the rehabilitation program. In addition, functional magnetic resonance imaging (fMRI) and diffusion tensor imaging (DTI)-based probabilistic tractography were performed. Two follow-up neuropsychological and functional assessments were also conducted 6 and 29 months after the conclusion of the program. Functional results showed an improvement, maintained over time, in walking with assistance, cognitive efficiency, visual acuity and visual field, dysarthria, and execution of activities of daily living. Moreover, functional and structural magnetic resonance imaging (MRI) data documented the existence of preserved neural networks involved in sensory, motor, and linguistic tasks, which in all likelihood support the recovery process. This report suggests the possibility of undertaking an intensive rehabilitation program in patients who remain for long periods in altered states of consciousness, in spite of early negative prognosis.
RESUMO
BACKGROUND: There is evidence that channelopathies are the cause of many different neurological diseases. The epileptic perinatal encephalopathy due to mutation in the KCNQ2 gene is a rare disease involving severe tetraparesis and cerebral visual impairment. Diseases of this kind are associated with severe disability that involves multiple systems and requires accurate genetic diagnosis and early multidisciplinary care once clinical stability is reached. CASE REPORT: We describe a case of a baby girl with KCNQ2 encephalopathy who came to our observation for rehabilitation at age 2 years and 6 months. CLINICAL REHABILITATION IMPACT: We stress the importance of a correct clinical, pharmacological and visual diagnosis. Correct diagnosis made it possible to involve the baby girl and her care-giver in an early process of visual rehabilitation lasting 6 months, the effects of which proved to persist at follow-up after more than a year, making it possible to start a useful inter-professional rehabilitation plan.
Assuntos
Canalopatias/complicações , Epilepsia/etiologia , Canal de Potássio KCNQ2/genética , Mutação/genética , Transtornos da Visão/diagnóstico , Transtornos da Visão/reabilitação , Canalopatias/diagnóstico , Pré-Escolar , Feminino , Humanos , Transtornos da Visão/etiologiaRESUMO
PRIMARY OBJECTIVE: To report consistent recovery of consciousness to a state of severe disability in a young patient after 7 years in vegetative state due to severe acquired brain injury, with reflections on protraction of intensive care and expert follow-up for the purpose of intercepting possible, albeit infrequent, cases of late recovery of consciousness. RESEARCH DESIGN: Single case study Methods: This study describes the 9-year history of a healthy 15-year-old who suffered cerebellar haemorrhage due to rupture of an arteriovenous malformation, followed by a brief period of coma then protracted vegetative state; late stabilization of general condition with resolution of neurosurgical complications. Clinical monitoring employed scales for structured assessment of severe disability and disorders of consciousness. RESULTS: The transition from vegetative state to full consciousness occurred over a period of ~ 3 months, 7 years after onset. In the subsequent 2 years the patient has shown slow but progressive overall improvement in a framework of severe residual motor and cognitive disability. CONCLUSIONS: Cases of recovery of consciousness after periods of vegetative state exceeding 1 year are rare, but remind one that a negative prognosis decided too early may be a self-fulfilling forecast.