img

Le syndrome de Rett se manifeste après une période d'évolution normale durant 6 à 18 mois.

Une période de régression apparaît alors avec :

  • Perte partielle ou complète de l'utilisation volontaire des mains
  • Mise en place de stéréotypies manuelles caractéristiques (pressions, torsion, applaudissement, frottement, lavage des mains)
  • Perte partielle ou complète du langage oral
  • Perte ou défaut d'acquisition de la marche ou marche robotisée
  • Dysfonctionnement respiratoire avec des épisodes d'apnée pendant l'éveil, d'hyperventilation intermittente, des épisodes de blocage de la respiration, d'expulsion de l'air ou de salive
  • Troubles de la communication et retrait social dès la petite enfance
  • Détérioration du comportement, manifestations autistiques et rires ou excès de cris ou de pleurs inappropriés
  • Retard mental sévère
  • Crises d'épilepsie
  • Déformations orthopédiques (scoliose, cyphose)
  • Communication par le regard intense - « eye pointing »
  • Ostéoporose
  • Troubles du tonus
  • Troubles du sommeil
  • Retard de croissance
  • Troubles vasomoteurs
  • Mains et pieds petits, hypotrophiques
  • Bruxisme (grincement des dents) pendant l'éveil.

Ni les patientes atteintes du syndrome de Rett, ni les souris modèle de la pathologie ne présentent de signes de dégénérescence cellulaire. Ceci suggère que la maladie est provoquée par un dysfonctionnement des réseaux neuronaux plutôt que par une perte de neurones. Grace à des travaux menés chez des souris modèle, l’équipe d’Adrian Bird, en Ecosse, a montré en 2007 que ce syndrome était réversible si la protéine Mecp2 était ré-exprimée, même à un stade avancé de la maladie.

Prévalence 

Le syndrome de Rett représente l'une des principales causes de retard mental chez la femme dans le monde, sa prévalence est selon le CNRS de 1⁄10000 enfants. Il s'agit de la première cause de polyhandicap d'origine génétique en Tunisie chez les filles .

Whoops, looks like something went wrong.

1/1 RuntimeException in FileProfilerStorage.php line 143: Unable to create the storage directory (/home/atsartn/public_html/app/cache/dev/profiler/b3/1b).

  1. in FileProfilerStorage.php line 143
  2. at FileProfilerStorage->write(object(Profile)) in Profiler.php line 104
  3. at Profiler->saveProfile(object(Profile)) in ProfilerListener.php line 152
  4. at ProfilerListener->onKernelTerminate(object(PostResponseEvent), 'kernel.terminate', object(TraceableEventDispatcher))
  5. at call_user_func(array(object(ProfilerListener), 'onKernelTerminate'), object(PostResponseEvent), 'kernel.terminate', object(TraceableEventDispatcher)) in WrappedListener.php line 61
  6. at WrappedListener->__invoke(object(PostResponseEvent), 'kernel.terminate', object(ContainerAwareEventDispatcher))
  7. at call_user_func(object(WrappedListener), object(PostResponseEvent), 'kernel.terminate', object(ContainerAwareEventDispatcher)) in classes.php line 1888
  8. at EventDispatcher->doDispatch(array(object(WrappedListener), object(WrappedListener)), 'kernel.terminate', object(PostResponseEvent)) in classes.php line 1803
  9. at EventDispatcher->dispatch('kernel.terminate', object(PostResponseEvent)) in TraceableEventDispatcher.php line 133
  10. at TraceableEventDispatcher->dispatch('kernel.terminate', object(PostResponseEvent)) in HttpKernel.php line 77
  11. at HttpKernel->terminate(object(Request), object(Response)) in Kernel.php line 151
  12. at Kernel->terminate(object(Request), object(Response)) in app_dev.php line 30
Unable to create the storage directory (/home/atsartn/public_html/app/cache/dev/profiler/b3/1b). (500 Internal Server Error)
Exception detected!

Unable to create the storage directory (/home/atsartn/public_html/app/cache/dev/profiler/b3/1b).

500 Internal Server Error - RuntimeException

Stack Trace

  1. in vendor/symfony/symfony/src/Symfony/Component/HttpKernel/Profiler/FileProfilerStorage.php at line 143  -
    1.             // Create directory
    2.             $dir dirname($file);
    3.             if (!is_dir($dir) && false === @mkdir($dir0777true) && !is_dir($dir)) {
    4.                 throw new \RuntimeException(sprintf('Unable to create the storage directory (%s).'$dir));
    5.             }
    6.         }
  2. at FileProfilerStorage ->write (object(Profile))
    in vendor/symfony/symfony/src/Symfony/Component/HttpKernel/Profiler/Profiler.php at line 104  +
  3. at Profiler ->saveProfile (object(Profile))
    in vendor/symfony/symfony/src/Symfony/Component/HttpKernel/EventListener/ProfilerListener.php at line 152  +
  4. at ProfilerListener ->onKernelTerminate (object(PostResponseEvent), 'kernel.terminate', object(TraceableEventDispatcher))
  5. at call_user_func (array(object(ProfilerListener), 'onKernelTerminate'), object(PostResponseEvent), 'kernel.terminate', object(TraceableEventDispatcher))
    in vendor/symfony/symfony/src/Symfony/Component/EventDispatcher/Debug/WrappedListener.php at line 61  +
  6. at WrappedListener ->__invoke (object(PostResponseEvent), 'kernel.terminate', object(ContainerAwareEventDispatcher))
  7. at call_user_func (object(WrappedListener), object(PostResponseEvent), 'kernel.terminate', object(ContainerAwareEventDispatcher))
    in app/cache/dev/classes.php at line 1888  +
  8. at EventDispatcher ->doDispatch (array(object(WrappedListener), object(WrappedListener)), 'kernel.terminate', object(PostResponseEvent))
    in app/cache/dev/classes.php at line 1803  +
  9. at EventDispatcher ->dispatch ('kernel.terminate', object(PostResponseEvent))
    in vendor/symfony/symfony/src/Symfony/Component/EventDispatcher/Debug/TraceableEventDispatcher.php at line 133  +
  10. at TraceableEventDispatcher ->dispatch ('kernel.terminate', object(PostResponseEvent))
    in vendor/symfony/symfony/src/Symfony/Component/HttpKernel/HttpKernel.php at line 77  +
  11. at HttpKernel ->terminate (object(Request), object(Response))
    in vendor/symfony/symfony/src/Symfony/Component/HttpKernel/Kernel.php at line 151  +
  12. at Kernel ->terminate (object(Request), object(Response))
    in app_dev.php at line 30  +

Logs  -

1 error
  1. INFO - Matched route "rett_description".
  2. INFO - Populated the TokenStorage with an anonymous Token.
  3. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\DebugHandlersListener::configure".
  4. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\ProfilerListener::onKernelRequest".
  5. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\ValidateRequestListener::onKernelRequest".
  6. DEBUG - Notified event "kernel.request" to listener "Symfony\Bundle\FrameworkBundle\EventListener\SessionListener::onKernelRequest".
  7. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\FragmentListener::onKernelRequest".
  8. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\RouterListener::onKernelRequest".
  9. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\LocaleListener::onKernelRequest".
  10. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\TranslatorListener::onKernelRequest".
  11. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\Security\Http\Firewall::onKernelRequest".
  12. DEBUG - Notified event "kernel.controller" to listener "Symfony\Bundle\FrameworkBundle\DataCollector\RouterDataCollector::onKernelController".
  13. DEBUG - Notified event "kernel.controller" to listener "Symfony\Component\HttpKernel\DataCollector\RequestDataCollector::onKernelController".
  14. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\ControllerListener::onKernelController".
  15. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\ParamConverterListener::onKernelController".
  16. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\HttpCacheListener::onKernelController".
  17. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\SecurityListener::onKernelController".
  18. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\TemplateListener::onKernelController".
  19. DEBUG - Notified event "kernel.response" to listener "Symfony\Component\HttpKernel\EventListener\ResponseListener::onKernelResponse".
  20. DEBUG - Notified event "kernel.response" to listener "Symfony\Component\Security\Http\RememberMe\ResponseListener::onKernelResponse".
  21. DEBUG - Notified event "kernel.response" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\HttpCacheListener::onKernelResponse".
  22. DEBUG - Notified event "kernel.response" to listener "Symfony\Component\HttpKernel\EventListener\ProfilerListener::onKernelResponse".
  23. DEBUG - Notified event "kernel.response" to listener "Symfony\Component\HttpKernel\EventListener\SaveSessionListener::onKernelResponse".
  24. DEBUG - Notified event "kernel.response" to listener "Symfony\Component\HttpKernel\EventListener\StreamedResponseListener::onKernelResponse".
  25. DEBUG - Notified event "kernel.finish_request" to listener "Symfony\Component\HttpKernel\EventListener\LocaleListener::onKernelFinishRequest".
  26. DEBUG - Notified event "kernel.finish_request" to listener "Symfony\Component\HttpKernel\EventListener\TranslatorListener::onKernelFinishRequest".
  27. DEBUG - Notified event "kernel.finish_request" to listener "Symfony\Component\HttpKernel\EventListener\RouterListener::onKernelFinishRequest".
  28. DEBUG - Notified event "kernel.finish_request" to listener "Symfony\Component\Security\Http\Firewall::onKernelFinishRequest".
  29. DEBUG - mkdir(): Disk quota exceeded
  30. CRITICAL - Uncaught PHP Exception RuntimeException: "Unable to create the storage directory (/home/atsartn/public_html/app/cache/dev/profiler/b3/1b)." at /home/atsartn/public_html/vendor/symfony/symfony/src/Symfony/Component/HttpKernel/Profiler/FileProfilerStorage.php line 143
  31. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\DebugHandlersListener::configure".
  32. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\ProfilerListener::onKernelRequest".
  33. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\ValidateRequestListener::onKernelRequest".
  34. DEBUG - Notified event "kernel.request" to listener "Symfony\Bundle\FrameworkBundle\EventListener\SessionListener::onKernelRequest".
  35. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\FragmentListener::onKernelRequest".
  36. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\RouterListener::onKernelRequest".
  37. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\LocaleListener::onKernelRequest".
  38. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\HttpKernel\EventListener\TranslatorListener::onKernelRequest".
  39. DEBUG - Notified event "kernel.request" to listener "Symfony\Component\Security\Http\Firewall::onKernelRequest".
  40. DEBUG - Notified event "kernel.controller" to listener "Symfony\Bundle\FrameworkBundle\DataCollector\RouterDataCollector::onKernelController".
  41. DEBUG - Notified event "kernel.controller" to listener "Symfony\Component\HttpKernel\DataCollector\RequestDataCollector::onKernelController".
  42. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\ControllerListener::onKernelController".
  43. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\ParamConverterListener::onKernelController".
  44. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\HttpCacheListener::onKernelController".
  45. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\SecurityListener::onKernelController".
  46. DEBUG - Notified event "kernel.controller" to listener "Sensio\Bundle\FrameworkExtraBundle\EventListener\TemplateListener::onKernelController".

Stack Trace (Plain Text)  +