Fisioterapia en el síndrome de Smith-Magenis: a propósito de un caso

Abstract

ResumenEl síndrome de Smith-Magenis es una alteración del desarrollo psicomotor de origen genético, incluido en el grupo de enfermedades raras. En el caso clínico que se presenta, se realizó una valoración inicial de la coordinación, la marcha y el equilibrio a través del test de desarrollo psicomotor (TEPSI), un circuito diseñado específicamente, la prueba del tablero de clavijas de Purdue y el test Timed up and Go. Al finalizar los 3 meses que duró el tratamiento, basado en actividades de tipo lúdico, se realizó una valoración final con las mismas pruebas, encontrándose importantes diferencias objetivas en los resultados obtenidos, además de una mejoría subjetiva reportada por los padres del paciente. A pesar de que la evidencia sobre el tratamiento de fisioterapia en este síndrome es escasa, atendiendo a los resultados encontrados creemos que dicho tratamiento está totalmente justificado en el abordaje integral de los pacientes que lo padecen.

Physiotherapy intervention in Smith–Magenis syndrome: A case report based on exercise therapy for postural control and balance

“…Usually, the treatment is expanded towards more global and mass activities, always seeking to enhance what the case can do individually. 2 Although the scientific literature about this syndrome is very scarce, and the duration of treatment is insufficient; The existing scientific articles do speak of a disease that is very little known and treated at a physiotherapeutic level. Among the articles analyzed, we only found one in which a complete clinical case of a young man with SMS is developed.…”

“…It is important for each activity to be accompanied by enough repetitions to generate an efficient neural memory of the exercise. Usually, the treatment is expanded towards more global and mass activities, always seeking to enhance what the case can do individually 2 …”

“…Among the articles analyzed, we only found one in which a complete clinical case of a young man with SMS is developed. In it, treatment techniques have focused on the most structural part from a neurorehabilitation point of view and focused on improving quality of life and delaying the possible consequences of the disease as much as possible 2 . The rest of the scientific literature talks about improving the quality of life of users and encouraging their participation in ABVDs from a more medical treatment perspective, but focused on a global objective in common with our work.…”

“…SMS is a genetic condition that includes a multisystemic and neurodevelopmental alteration. It usually presents psychomotor delay, mental retardation of different degrees (present in 100% of subjects) and a series of congenital anomalies that make up a pattern of physical, developmental, and behavioral traits 1,2 . SMS is present in all ethnic groups, in both sexes and all social classes.…”

“…SMS is present in all ethnic groups, in both sexes and all social classes. It has classically been estimated that appears in one every 25,000/50,000 newborns, although some sources consider a prevalence of one in 15,000 1–3 . SMS is a contiguous gene syndrome caused by a chromosomal interstitial microdeletion at 17p11.2.…”