Il Domenica 11 Settembre 2016 13:30, "[email protected]" <[email protected]> ha scritto: #yiv8758320267 #yiv8758320267 -- _filtered #yiv8758320267 {font-family:Helvetica;panose-1:2 11 6 4 2 2 2 2 2 4;} _filtered #yiv8758320267 {panose-1:2 4 5 3 5 4 6 3 2 4;} _filtered #yiv8758320267 {font-family:Calibri;panose-1:2 15 5 2 2 2 4 3 2 4;} _filtered #yiv8758320267 {font-family:ElectraLH;panose-1:0 0 0 0 0 0 0 0 0 0;} _filtered #yiv8758320267 {font-family:Consolas;panose-1:2 11 6 9 2 2 4 3 2 4;} _filtered #yiv8758320267 {panose-1:2 11 5 2 4 2 4 2 2 3;}#yiv8758320267 #yiv8758320267 p.yiv8758320267MsoNormal, #yiv8758320267 li.yiv8758320267MsoNormal, #yiv8758320267 div.yiv8758320267MsoNormal {margin:0cm;margin-bottom:.0001pt;font-size:12.0pt;}#yiv8758320267 a:link, #yiv8758320267 span.yiv8758320267MsoHyperlink {color:blue;text-decoration:underline;}#yiv8758320267 a:visited, #yiv8758320267 span.yiv8758320267MsoHyperlinkFollowed {color:purple;text-decoration:underline;}#yiv8758320267 p {margin-right:0cm;margin-left:0cm;font-size:12.0pt;}#yiv8758320267 pre {margin:0cm;margin-bottom:.0001pt;font-size:10.0pt;}#yiv8758320267 span.yiv8758320267PreformattatoHTMLCarattere {font-family:Consolas;}#yiv8758320267 p.yiv8758320267msonormal, #yiv8758320267 li.yiv8758320267msonormal, #yiv8758320267 div.yiv8758320267msonormal {margin-right:0cm;margin-left:0cm;font-size:12.0pt;}#yiv8758320267 p.yiv8758320267msoacetate, #yiv8758320267 li.yiv8758320267msoacetate, #yiv8758320267 div.yiv8758320267msoacetate {margin-right:0cm;margin-left:0cm;font-size:12.0pt;}#yiv8758320267 p.yiv8758320267msochpdefault, #yiv8758320267 li.yiv8758320267msochpdefault, #yiv8758320267 div.yiv8758320267msochpdefault {margin-right:0cm;margin-left:0cm;font-size:12.0pt;}#yiv8758320267 span.yiv8758320267msohyperlink {}#yiv8758320267 span.yiv8758320267msohyperlinkfollowed {}#yiv8758320267 span.yiv8758320267preformattatohtmlcarattere {}#yiv8758320267 span.yiv8758320267testofumettocarattere {}#yiv8758320267 span.yiv8758320267stilemessaggiodipostaelettronica23 {}#yiv8758320267 p.yiv8758320267msonormal1, #yiv8758320267 li.yiv8758320267msonormal1, #yiv8758320267 div.yiv8758320267msonormal1 {margin:0cm;margin-bottom:.0001pt;font-size:12.0pt;color:black;}#yiv8758320267 span.yiv8758320267msohyperlink1 {color:blue;text-decoration:underline;}#yiv8758320267 span.yiv8758320267msohyperlinkfollowed1 {color:purple;text-decoration:underline;}#yiv8758320267 p.yiv8758320267msoacetate1, #yiv8758320267 li.yiv8758320267msoacetate1, #yiv8758320267 div.yiv8758320267msoacetate1 {margin:0cm;margin-bottom:.0001pt;font-size:8.0pt;color:black;}#yiv8758320267 span.yiv8758320267preformattatohtmlcarattere1 {font-family:Consolas;color:black;}#yiv8758320267 span.yiv8758320267testofumettocarattere1 {color:black;}#yiv8758320267 span.yiv8758320267stilemessaggiodipostaelettronica231 {color:#1F497D;}#yiv8758320267 p.yiv8758320267msochpdefault1, #yiv8758320267 li.yiv8758320267msochpdefault1, #yiv8758320267 div.yiv8758320267msochpdefault1 {margin-right:0cm;margin-left:0cm;font-size:10.0pt;color:black;}#yiv8758320267 span.yiv8758320267StileMessaggioDiPostaElettronica36 {color:#1F497D;}#yiv8758320267 .yiv8758320267MsoChpDefault {font-size:10.0pt;} _filtered #yiv8758320267 {margin:72.0pt 72.0pt 72.0pt 72.0pt;}#yiv8758320267 div.yiv8758320267WordSection1 {}#yiv8758320267 Insisto nel chiarimento perché i tantissimi  non addetti ai lavori come me non capiscono e traggono conclusioni errate e anche per un ulteriore argomento che vorrei discutere e che dipende dalla risposta.  Anche se l’espressività è variabile e non avremo il 100%, ad esempio, degli X-Fragile con diagnosi di autismo, allo stato dell’arte la comunità scientifica sostiene che nel 100% dei casi diagnosticati anche con autismo esso è stato sicuramente causato da quel gene?   16 settembre Lamedicina non é matematica ed é piú corretto usare termini come“verosimilmente” “fattore di rischio” “fattore disuscettibilitá” “correlazione piú che casuale” piuttosto che“causa ed effetto’ o “relazione causale tra due fenomeni” Aquesto proposito trovo molto interessante la discussione che si trovain fondo all’articolo Therelationship of neuroimaging findings and neuropsychiatriccomorbidities in children with tuberous sclerosis complex - Cheng-Hsien Huanga,  - Steven Shinn-Forng Pengb,  - Wen-Chin Wengc,  - Yi-Ning Sud,  - Wang-Tso Leec, e, , ,  Journalof the Formosan Medical AssociationVolume114, Issue 9,September 2015, Pages 849–85http://www.sciencedirect.com/science/article/pii/S0929664614000710 Quisi presenta in modo problematico l’associazione tra sclerosituberosa e autismo e non si dá per scontato che il numero di tuberie la loro localizzazione siano in rapporto causale tout court conl’autismo. Copio alcuni stralci nei quali faccio notare il termine“ruolo significativo’ e non “causale” ASDis a common comorbidity in TSC. Cortical tubers in the temporal lobeand insular area were associated with ASD. The presence ofcystic-like tubers on magnetic resonance imaging may also offer astructural marker for ASD in TSC. Wealso found that the cortical tubers in temporal and insular areasplay a significant role in TSC patients with ASD. In addition, wefound a higher prevalence of cystic-like tubers in patients with TSCand ASD. Thetemporal lobe and insular area have been reported to be involved inASD. Thetemporal lobe is associated with social perception, language, and“theory-of-mind” abilities. Animal models have also shown thatthe damage in temporal lobe may cause changes in socialfunction.20 Furthermore,the superior temporal sulcus was believed to play a crucial role inthe network of social interaction.21 Langeet al's18 studyalso revealed atypical diffusion tensor hemispheric asymmetry in thesuperior temporal gyrus and temporal system for an individual withautism. Theinsula is considered an important region involved in interoceptive,affective, and empathic processes. Recent studies have demonstratedabnormal functional connectivity between the insula and the certainbrain regions involved in emotional, sensory, and languageprocessing.17 and 19 Ourresults may give evidence to support this hypothesis and are thefirst to demonstrate this association in patients with TSC. theexact mechanism between TSC2 genedysfunction and the presence of autistic behavior remains unclear. Inconclusion, our data support an underlying role of genetic,physiologic, and structural abnormalities in the development of ASDin TSC. Our results reveal that tubers in the temporal lobe andinsular area are associated with ASD. The presence of cystic-liketubers on MRI may also offer a structural marker for ASD.