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

2021 ◽  
pp. 74-77
Author(s):  
Kinjal Bagthariya(M.P.T)

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.

2019 ◽  
Vol 2019 ◽  
pp. 1-7
Author(s):  
Anandh Vaiyapuri ◽  
Prashant Kashyap ◽  
Nivedita Kashyap ◽  
Hariraja Muthusamy ◽  
Radhakrishnan Unnikrishnan ◽  
...  

It is interesting to be aware that there is no Randomized Clinical Trials (RCT) research article except a few case-study reports which have been reported about the physical therapy (PT) intervention for stiff person syndrome (SPS). This study was designed to determine the benefits of PT in cases with SPS through analysis of case reports, thereby to raise awareness among physical therapist about the most beneficial PT interventions for SPS. We executed acomputer-based search with a diagnosis of SPS who underwent PT and articles published only in English. We selected case-study reports because of nonavailability of RCT articles to review the complaints, deformities, contractures, precipitating factors, interventions, outcomes, results, disability, and benefits of PT management among SPS. We concluded that PT training is substantiated to be a necessary and beneficial intervention in rehabilitation of patients with SPS.


2006 ◽  
Vol 23 (4) ◽  
pp. 339-355 ◽  
Author(s):  
Miriam Getz ◽  
Yeshayahu Hutzler ◽  
Adri Vermeer

The purpose of this study was to investigate the relationship between motor performance in the aquatic setting as measured by the Aquatic Independence Measure (AIM) to motor performance on land as measured by the Gross Motor Function Measure (GMFM) and the Pediatric Evaluation of Disability Inventory (PEDI). Fourty- nine children with neuro-motor impairments ages 3 to 7 participated in the study. Pearson correlations were applied to determine the relationships between the AIM and the GMFM, PEDI, and Gross Motor Function Classification System (GMFCS). Significant correlations were found between the total AIM and GMFM scores (r = 69, p < .01) and PEDI self-care sub-scale (r = .79, p < .01) as well as the PEDI mobility sub-scale scores (r = .35, p < .05). The water adjustment sub-scale as measured by the AIM showed the strongest relationship to motor performance on land as measured by the GMFM and PEDI in our sample of 49 children.


2018 ◽  
Vol 52 ◽  
pp. 95-102
Author(s):  
Ébe dos Santos Monteiro Carbone ◽  
Mayara Ronzini Takaki ◽  
Maria Gabriela Baumgarten Kuster Uyeda ◽  
Marair Gracio Ferreira Sartori

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