Che cos’è?
Disturbo neuro-evolutivo (etiologia genetica) che produce rallentamento della crescita del cranio, ipotonia e riduzione della mobilità, con attività ripetitive e stereotipate delle mani, grave compromissione del linguaggio e ritardo mentale.
I criteri diagnostici per il disturbo di Rett sono i seguenti:
- sviluppo prenatale e perinatale apparentemente normale;
- sviluppo psicomotorio apparentemente normale nei primi 5 mesi dopo la nascita;
- circonferenza del cranio normale al momento della nascita.
Esordio di tutti i seguenti punti dopo il periodo di sviluppo normale:
- rallentamento crescita cranio;
- perdita di capacità manuali;
- perdita precoce dell’interesse sociale.
Quando nasce e chi colpisce?
Vi è una marcata regressione che colpisce solo le femmine nel primo anno di vita dopo uno sviluppo apparentemente normale.
Perché nasce?
Sembra essere dovuta ad un’anomalia del gene MECP2, localizzato sulla parte distale del cromosoma X deputato alla produzione di una proteina omonima.
Quali conseguenze?
Le difficoltà sul piano sociale e comportamentale del bambino hanno profonde ripercussioni sulla famiglia che deve spesso far fronte ai giudizi e alle critiche dei vicini, parenti, amici o conoscenti del cui bisogno avrebbero invece disperatamente bisogno. La paura e l’angoscia generati dai comportamenti insoliti e bizzarri del bambino possono portare i genitori a chiudersi all’interno delle mura domestiche e a isolarsi, precludendo al bambino una serie di attività e l’ampliamento degli interessi già fortemente ristretti per il disturbo. Gli effetti dell’incomprensione sociale sono ancora più devastanti se il bambino viene anche respinto dalle istituzioni scolastiche e sanitarie e non gli viene offerta la possibilità di programmi didattici ed educativi individualizzati finalizzati a potenziare le sue abilità. Se, invece, si realizzano programmi di intervento strutturati, precoci e sistematici, si verifica una riduzione significativa dei disturbi del comportamento e dei deficit di interazione sociale e si può favorire una maggiore autonomia del bambino.
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