RESUMEN
PURPOSE: Angelman syndrome (AS) accounts for upto 6% of all cases with severe mental retardation and epilepsy. Clinical findings include developmental delay, severely impaired expressive language, ataxic gait, tremulousness of limbs and a typical behavioral profile including a happy demeanour, hyperactive behavior and low attention span. Seizures, abnormal electroencephalogram, microcephaly and scoliosis are observed in >80% of patients. Cognitive, language and orthopedic problems must be addressed with vigorous rehabilitation programs. Classification of functioning disability and health, children and youth adaptation (ICF-CY) can provide the most adequate framework to describe the condition of the persons towards whom rehabilitative efforts are concentrated. The aim of the study is to test whether the ICF-CY framework is effectively able to capture the various dimensions of health in AS. METHODS: We applied the ICF-CY, to the detail of second level codes, to a cohort of 11 patients with AS of various ages. The coding was obtained by the multi-professional team following these children for the rehabilitation program. RESULTS: The functional profile obtained applying the ICF-CY is complete and comparable with the characteristics of the syndrome described in literature. The possibility of highlighting not only the problems but also the points of strength appears as very helpful. The second level codes may be too broad to provide insight in the clinical and rehabilitative peculiarities, and the use of the full power of the classification may be more advisable for clinical use. CONCLUSIONS: This prelimiary study shows that ICF-CY is a valid tool to frame the clinical characteristics of a complex syndrome as AS, and may give a strong foundation for the rehabilitation programming.
Asunto(s)
Síndrome de Angelman/diagnóstico , Evaluación de la Discapacidad , Vocabulario Controlado , Adolescente , Adulto , Síndrome de Angelman/rehabilitación , Niño , Preescolar , Estudios de Cohortes , Femenino , Humanos , Lactante , Masculino , Adulto JovenRESUMEN
PURPOSE: The available tools used to describe childhood dystonia tend to offer a monodimensional view of the person functioning, which may overlook significant changes induced by treatment. We applied the International Classification of Functioning, Disability and Health (ICF) perspective to the description of the clinical picture of a dystonic child treated with deep brain stimulation (DBS) to get a more global representation of the treatment effect. METHOD: An 8-year-old child with secondary dystonia was selected within the institutional program for advanced treatment of pediatric dystonia as a candidate for bilateral implantation of electrodes into globus pallidus and chronic stimulation. The International Classification of Functioning, Disability and Health -children and youth (ICF-CY) based project and program format was used by the rehabilitation team to define the clinical picture, rehabilitation objectives, and to verify the outcome. RESULTS: The rehabilitation project and program included 39 ICF categories: 14 body functions, two body structures, 18 activities and participation, and five environment. On such basis we defined the individualized specific rehabilitation objectives and we checked for clinical changes after DBS. CONCLUSION: The ICF-CY format provides a complete and balanced profile of functioning in secondary dystonia treated with DBS and it could offer a novel perspective for outcome evaluation.