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
La
medicina non é matematica ed é piú corretto usare termini come
“verosimilmente” “fattore di rischio” “fattore di
suscettibilitá” “correlazione piú che casuale” piuttosto che
“causa ed effetto’ o “relazione causale tra due fenomeni”
A
questo proposito trovo molto interessante la discussione che si trova
in fondo all’articolo
The
relationship of neuroimaging findings and neuropsychiatric
comorbidities in children with tuberous sclerosis complex
Qui
si presenta in modo problematico l’associazione tra sclerosi
tuberosa e autismo e non si dá per scontato che il numero di tuberi
e la loro localizzazione siano in rapporto causale tout court con
l’autismo. Copio alcuni stralci nei quali faccio notare il termine
“ruolo significativo’ e non “causale”
ASD
is a common comorbidity in TSC. Cortical tubers in the temporal lobe
and insular area were associated with ASD. The presence of
cystic-like tubers on magnetic resonance imaging may also offer a
structural marker for ASD in TSC.
We
also found that the cortical tubers in temporal and insular areas
play a significant role in TSC patients with ASD. In addition, we
found a higher prevalence of cystic-like tubers in patients with TSC
and ASD.
The
temporal lobe and insular area have been reported to be involved in
ASD.
The
temporal lobe is associated with social perception, language, and
“theory-of-mind” abilities. Animal models have also shown that
the damage in temporal lobe may cause changes in social
function.20 Furthermore,
the superior temporal sulcus was believed to play a crucial role in
the network of social interaction.21 Lange
et al's18 study
also revealed atypical diffusion tensor hemispheric asymmetry in the
superior temporal gyrus and temporal system for an individual with
autism.
The
insula is considered an important region involved in interoceptive,
affective, and empathic processes. Recent studies have demonstrated
abnormal functional connectivity between the insula and the certain
brain regions involved in emotional, sensory, and language
processing.17 and 19 Our
results may give evidence to support this hypothesis and are the
first to demonstrate this association in patients with TSC.
the
exact mechanism between TSC2 gene
dysfunction and the presence of autistic behavior remains unclear.
In
conclusion, our data support an underlying role of genetic,
physiologic, and structural abnormalities in the development of ASD
in TSC. Our results reveal that tubers in the temporal lobe and
insular area are associated with ASD. The presence of cystic-like
tubers on MRI may also offer a structural marker for ASD.