1. A Rett-szindróma diagnózisához szükséges kritériumok

Más fogyatékosságot okozó állapotok kizárását követően a Rett-szindróma felismeréséhez szükségesek az alábbiak:

  • Látszólag normális fejlődési periódus a 6. és a 18. hónapok között.
  • Születéskor normális fejkörfogat, melyet a fej növekedésének életkorral csökkenő üteme kísér (3 hónaptól 4 évig).
  • Súlyosan károsodik a beszéd, a kéz céltudatos használata elveszik, ami megnehezíti a megértés és az intelligencia felmérését.
  • Ismétlődő kézmozgások, az alábbiak közül több is megjelenhet: kézmosó mozdulatok, a kéz csavarása, kopogások, csapkodások, illetve a kéz szájba vétele, amelyek szinte állandósulnak éber állapotban.
  • A törzs remegése, amely kiterjedhet a végtagokra is, különösen álló helyzetben vagy izgatott állapotban.
  • Amennyiben járóképes, úgy gyakori a bizonytalan, széles alapú, merev lábú tartás/lábujjon járás.

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