PHYSICAL THERAPY INTERVENTION FOR PATIENT WITH EAST SYNDROME- A CASE STUDY.

Abstract

EAST syndrome is autosomal recessive disorder due to mutations in gene KCNJ10, a gene encoding a potassium channel expressed in the brain, eye, ear and kidney. It is characterized by four cardinal features; Epilepsy, Ataxia, Sensorineural deafness, and renal salt-wasting Tubulopathy, thus the acronym EAST syndrome. It was rst described as a distinct clinical entity in 2009 by Bockenhauer and scholl, who named this condition EAST syndrome and SeSAME syndrome for Seizures, Sensorineural deafness, Ataxia, Mental retardation and Electrolyte imbalance respectively. Neurodevelopmental delay is evident in most patients with EAST syndrome that were old enough to be assessed; Thus, physiotherapy intervention also plays a vital role in EAST syndrome along with medical management. From physiotherapy perspective; symptomatic management to Improve overall health, wellbeing and motor control becomes ultimate goal in the patient with EAST syndrome. As there is no specic physical therapy treatment approach and no specic tool to evaluate function for children with EAST syndrome; for clinically presented delay development and ataxia, Neurodevelopment therapy (NDT) was utilized as treatment approach and Gross motor function measure (GMFM) & Gross motor performance measure (GMPM) were utilized for assessment in this case study to track progress on follow ups. Result showed marked improvement in GMFM and GMPM scores at follow ups and concluded that Physical therapy intervention improves the gross motor function as well as gross motor performance in patient with EAST syndrome.