Physiotherapy for Children with CLN2 Disease

Abstract CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, genetic, paediatric-onset, neurodegenerative lysosomal storage disorder characterised by seizures, ataxia, rapid loss of motor function and language ability, dementia, visual loss and early death. Physiotherapy plays an important role in the management of CLN2 disease, aiming to maintain the best possible functioning and autonomy of the child, support the child's participation in everyday life, limit secondary complications and maintain or improve quality of life. This article discusses the physiotherapeutic treatment of children diagnosed with CLN2 disease. Based on the author's clinical experience, frequent muscular impairments associated with CLN2 disease, their impact on affected children's sensorimotor abilities and autonomy, and physiotherapy interventions are described. Common muscular deficits included abnormal muscle tone leading to poor trunk control, difficulty standing upright, often accompanied by equinus contractures and movement disorders such as myoclonus. The use of orthotic and adaptive medical devices that support an erect posture in locomotion and positioning appear to be particularly beneficial for prolonging sensorimotor control, communication and food intake. In conclusion, early initiation of physiotherapy is recommended and should include the provision of adaptive walking, standing, sitting and positioning aids.

Research on the correlation between the rescue time and the spot survival rate during Wenchuan earth-quake / 中华急诊医学杂志

Objective To study the correlation between the rescue time and the spot survival rate.Method The data of spot-rescued victims in a large public place of Dujiangyan City from 14:35 on May 12,2008 to 11:40 on May 15,2008 were analyzed.The searched-out victims included the spot death and spot survival,and they were statistically analyzed with Chi-Square test and Partitions of X2 method in order to find out correlation between rescue time and survival rate.Results Out of the 366 spot-rescued victims from the ruins,87 ones survived and the spot survival rate was 23.77%.The spot survival rate in the first 24 hours was much higher than that in the second 24 hours(X2=22.62,P＜0.0125)and that in the third 24 hours(X2=37.84,P＜0.0125),and no obvious difference in the spot survival rate between the second and the third 24 hours was found(X2=1.92,P＞0.0125).The first 24 hours was further divided into 3 periods in equal length of time in order to find more subtle differences in early rescue.The spot survival rates in the first and the sccond 8 hours were much higher than that in the third 8 hours(x2=19.33 and 7.11,respectively,P＜0.012 5)while there was no statistical difference in the spot survival rate between the first 8 hours and the second 8 hours(X2=1.75,P＞0.012 5).Conclusions The"golden time"for spot rescuing the victims is the first 24 hours after seismic disaster,the chances to find the survivals is decreasing as the time elapsing.The earlier spot rescue starts in the first golden24 hours,the higher spot survival rate of the seismic victims will be.