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10.1186/s11689-015-9116-7 http://scihub22266oqcxt.onion/10.1186/s11689-015-9116-7 C4499899!4499899!26171070     free     free     free Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Neurodev+Disord 2015 ; 7 (1): ä Nephropedia Template TP {{tp|p=26171070|t=2015. A 13-year follow-up of Finnish patients with Salla disease |pdf=|usr=}}{{26171070}} gab.com Text A 13-year follow-up of Finnish patients with Salla disease JO: J Neurodev Disord http://www.kidney.de/pget.php?&tw=1&pmid=26171070 #FOAvip Background: Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the study was to investigate the course of neurocognitive features of SD patients in a long-term follow-up. Methods: Neuropsychological and neurological investigations were carried out on 24 SD patients, aged 16?65 years, 13 years after a similar examination. Results: The survival analysis showed excess mortality among patients with SD after the age of 30 years. The course of the disease was progressive, but follow-up of SD patients revealed that motor skills improved till the age of 20 years, while mental abilities improved in most patients till 40 years of age. Verbal comprehension skills did not diminish during the follow-up, but productive speech deteriorated because of dyspraxia and dysarthria. Motor deficits were marked. Ataxia was prominent in childhood, but it was replaced by athetotic movements during the teens. Spasticity became more obvious with age especially in severely disabled SD patients. Conclusions: Younger SD patients performed better in almost every task measuring mental abilities that then seem to remain fairly constant till early sixties. Thus, the results indicate better prognosis in cognitive skills than earlier assumed. There is an apparent decline in motor skills after the age of 20 years. The early neurocognitive development predicts the later course of motor and cognitive development. Twit Text FOAVip A 13-year follow-up of Finnish patients with Salla disease ????J Neurodev Disord http://www.kidney.de/pget.php?&tw=1&pmid=26171070 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26171070 #FOAvip English Wikipedia <ref>{{Cite pmid|26171070}}</ref> A 13-year follow-up of Finnish patients with Salla disease #MMPMID26171070 Paavola LE; Remes AM; Harila MJ; Varho TT; Korhonen TT; Majamaa K J Neurodev Disord 2015[]; 7 (1): ä PMID26171070show ga Background: Salla disease (SD) is a rare lysosomal storage disorder leading to severe intellectual disability. SD belongs to the Finnish disease heritage, and it is caused by mutations in the SLC17A5 gene. The aim of the study was to investigate the course of neurocognitive features of SD patients in a long-term follow-up. Methods: Neuropsychological and neurological investigations were carried out on 24 SD patients, aged 16?65 years, 13 years after a similar examination. Results: The survival analysis showed excess mortality among patients with SD after the age of 30 years. The course of the disease was progressive, but follow-up of SD patients revealed that motor skills improved till the age of 20 years, while mental abilities improved in most patients till 40 years of age. Verbal comprehension skills did not diminish during the follow-up, but productive speech deteriorated because of dyspraxia and dysarthria. Motor deficits were marked. Ataxia was prominent in childhood, but it was replaced by athetotic movements during the teens. Spasticity became more obvious with age especially in severely disabled SD patients. Conclusions: Younger SD patients performed better in almost every task measuring mental abilities that then seem to remain fairly constant till early sixties. Thus, the results indicate better prognosis in cognitive skills than earlier assumed. There is an apparent decline in motor skills after the age of 20 years. The early neurocognitive development predicts the later course of motor and cognitive development. äA 13-year follow-up of Finnish patients with Salla disease (epmc).pdf DeepDyve Pubget Overpricing