2. A Rett-szindróma diagnózisát alátámasztó kritériumok

Olyan tünetek, amelyek nem szükségesek a kórisméhez, de szintén előfordulhatnak. Ezek a vonások nem figyelhetők meg kisebb lányoknál, de az életkor előrehaladtával megjelenhetnek.

  • Légzési működészavarok, amelyek magukban foglalják a lélegzet elakadását, vagy apnoét, a hyperventilatiot, és levegőnyelést, amely hasi puffadást eredményezhet.
  • EEG-eltérések – a normális elektromos minták lassulása, epileptiform minták megjelenése, továbbá a normális alvási jellemzők elvesztése.
  • Görcsök.
  • Izommerevség/spaszticitás/ízületi kontraktúrák kialakulása és fokozódása az életkor előrehaladtával.
  • Scoliosis.
  • Fogcsikorgatás (bruxizmus).
  • Kis láb (a testalkathoz képest).
  • Növekedésbeli visszamaradás.
  • Csökkent testzsír- és izomtömeg (egyes felnőttekben azonban elhízásra való hajlam).
  • Abnormális alvásminták, nyugtalanság, ingerlékenység.
  • Rágási és/vagy nyelési nehézségek.
  • Az alsó végtagok rossz vérkeringése, hideg és kékes-vörös lábak.
  • Az életkor előrehaladtával csökken az önálló hely-és helyzetváltoztatás szintje.
  • Gyakori székrekedés.

Nem minden RSZ-ban szenvedő lány és asszony mutatja valamennyit ezen tünetek közül, az egyes tünetek súlyossága pedig egyénenként eltérő lehet. A klinikai diagnózis megerősítése érdekében gyermek neurológussal kell konzultálni.

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