Sindrome di Tourette

Movimenti incontrollati, gesti ripetuti, tic sonori e motori, iperattività e scarsa concentrazione, deficit di attenzione: sono solo alcuni dei sintomi più comuni e diffusi della cosiddetta Sindrome di Tourette, una patologia che esordisce nell’infanzia e che, proprio per via di questi sintomi così simili a semplici manifestazioni di iperattività del bambino, può essere difficilmente riconosciuta.

La Sindrome di Tourette è quindi una patologia che va accuratamente studiata e diagnosticata, attraverso test e strumentazioni mediche rilevanti: si tratta per lo più di un disordine neurologico, che esordisce nell’infanzia e che talvolta (ma non sempre) può scomparire nell’adolescenza.

Storia: quando è stata individuata questa patologia

Sindrome di TouretteLa Sindrome di Tourette prende il nome del suo scopritore, Gilles de la Tourette, neurologo, il quale descrisse questa patologia ed i suoi relativi sintomi nell’800: la patologia, però, era stata già individuata nel 600 ma non era stata comunque presa in considerazione proprio perché i suoi sintomi erano spesso confondibili con semplici manifestazioni di vivacità del bambino che ne era affetto. Si deve quindi il merito della sua individuazione ed analisi proprio al neurologo il quale fornì delle prime indicazioni in merito a questa sindrome caratterizzata dalla presenza di tic, sia motori che sonori, spesso incostanti e di gravità variabile.

È però importante sottolineare che la definizione di questa sindrome – anche se per comodità si parla di patologia – in realtà non fa riferimento ad una specifica malattia, ma è incentrata sul riconoscimento e l’individuazione di un quadro comportamentale ben preciso.

Questo quadro comportamentale presenta determinati sintomi che, tuttavia, non sono solo presenti in questa sindrome ma possono ritrovarsi anche in altre sindromi, come ad esempio ADHD ed autismo.

Va da sé che per riconoscere la Sindrome di Tourette non è sufficiente una diagnosi poco approfondita: bisogna valutare tutte le manifestazioni, motorie, sonore e cognitive, presenti nel quadro clinico del paziente perché è solo così che questa sindrome può essere trattata ed eventualmente curata.

Somiglianza dei sintomi ad altri disturbi

I più tipici disturbi che i presenti affetti da Sindrome di Tourette presentano sono per lo più tic motori e sonori (movimenti ripetuti ed inconsapevoli, tic fonatori e motori), che rendono questa sindrome molto simile ad altre patologie.

Tra esse si ricordano il DOC (disturbo ossessivo compulsivo) e ADHD (deficit di attenzione e iperattività): con il primo disturbo, la somiglianza è chiara soprattutto dalla presenza di comportamenti di controllo ma anche forme di autolesionismo, situazioni che possono portare il paziente a diventare un pericolo sia per sé che per gli altri. La somiglianza con il disturbo ADHD è invece ben chiarita nella presenza di atteggiamenti di incapacità di stare fermi, incapacità di affrontare una situazione stressante di stabilità (per esempio, per il bambino, stare seduto al banco oppure presenza di forme di disattenzione e di iperattività).

Ad uno stadio iniziale della sindrome, questi disturbi vengono confusi per semplice vivacità del bambino, che molto spesso viene punito per i suoi comportamenti: sono quindi necessarie attenzione e soprattutto sensibilità estrema da parte del contesto sociale in cui vive il paziente, per poter individuare la presenza della sindrome e trattarla nella maniera più adeguata.

Chi colpisce la Sindrome di Tourette

CoprolaliaLe persone affette da questa sindrome, secondo alcuni dati, riguarda l’1 per cento della popolazione mondiale, con una prevalenza importante sulle femmine (rapporto femmina-maschio 4 a 1).

Questa sindrome si presenta soprattutto in giovanissima età, tra bambini e giovanissimi, con sintomi che possono essere più o meno gravi a seconda dei casi: in alcune situazioni, è possibile notare la presenza di sintomi particolarmente invalidanti, mentre in altri casi i sintomi possono essere abbastanza controllati.

In ogni caso, essa inizia per lo più durante l’infanzia e si accompagna a disturbi ossessivo-compulsivi, tic motori e sonori che possono peggiorare nel tempo: questi sintomi possono essere anche molto invalidanti e ripetuti, come ad esempio continui brontolii, colpi di tosse ripetuti, sospiri rumorosi, che però non sempre vengono individuati come conseguenza diretta del disturbo.

C’è anche da dire che circa il 10% delle persone affette da Sindrome di Tourette presenta anche altre caratteristiche, come ad esempio coprolalia (uso di parolacce) ed imprecazioni immotivate.

I famosi affetti dalla Sindrome di Tourette

Wolfgang MozartTra le persone conosciute affette da questa sindrome si ricorda soprattutto il noto compositore Wolfgang Amadeus Mozart, anche se non vi sono al giorno d’oggi delle certezze in merito.

Al compositore è stata a posteriori diagnosticata questa patologia, soprattutto per via di alcuni sintomi specifici come ad esempio impulsi che percorrono spalle e tutto il corpo, tic che si estendono dal viso al collo, aggressività e ripetizione ossessiva di parole o gesti inconsulti.

Un’altra persona famosa affetta da Sindrome di Tourette è Tim Howard, calciatore statunitense, nel quale i sintomi tendono a peggiorare e farsi via via più forti soprattutto in condizioni di stress, come ad esempio durante una partita: anche in questo caso sono presenti tic motori e contrazioni dei muscoli, ma non vi è la coprolalia.

Caratteristiche della Sindrome di Tourette e sintomi diffusi

I sintomi più diffusi della sindrome sono:

  • Tic: per tic si intende un movimento (tic motorio) oppure un suono (tic fonatorio o sonoro) che si presenta per lo più improvvisamente e ad intermittenza. Questi tic possono avere frequenza, numero e gravità variabili a seconda dell’individuo affetto dalla sindrome. Tra i tic più comuni vi sono: chiudere gli occhi, schiarirsi la gola, presenza di continui colpi di tosse: ciò che accomuna tutti questi tic è il fatto che essi si presentano improvvisamente (cioè senza alcun segno distintivo) e che prima dell’insorgenza del tic, vi è la necessità di starnutire o di schiarirsi la gola (impulsi premonitori).
  • Ecolalia: si tratta di una condizione per la quale si tende a ripetere le parole degli altri, anche se non è un sintomo particolarmente diffuso.
  • Palilalia: secondo questo sintomo, si ripetono le proprie parole.
  • Coprolalia: si tratta dell’espressione non volontaria di frasi o parole sconvenienti, come ad esempio parolacce e frasi censurabili. Da solo, questo aspetto non può essere indicativo nella diagnosi della sindrome di Tourette, ma lo può diventare insieme agli altri sintomi.

Ciò che caratterizza questi tic e queste manifestazioni è la generale incapacità di sopprimerli: per questo motivo, vengono definiti semi-volontari ed anche se vi è una ristretta minoranza di casi in cui è possibile sopprimere l’insorgenza di qualche tic, ciò può scatenare ulteriore ansia e tensione.

Sindrome di TouretteLe persone affette dalla sindrome con presenza di tic motori e sonori dichiarano che il tic viene per lo più indicato come un modo per alleviare la propria ansia e tensione, e che se si cerca di sopprimerlo, la tensione può salire e si può presentare anche stanchezza mentale.

Tra gli adulti ed i bambini vi è una sostanziale differenza: i primi possono essere consapevoli del fatto che vi è il bisogno di esprimere il proprio tic (e quindi, anche se ciò non sempre accade, si può avere la capacità di riconoscere l’arrivo imminente del tic e si può cercare un luogo appartato in cui rilasciare il sintomo); nel secondo caso, vi è una minore consapevolezza del bisogno associato al tic.

Cause della Sindrome: da cosa deriva il disturbo

Ancora oggi, sebbene siano passati secoli dalla prima volta che la Sindrome di Tourette è stata individuata, non vi sono particolari conoscenze in merito alle cause che possono determinare la presenza del disturbo: si considera che l’eziologia sia multifattoriale e che quindi possano concorrere diverse cause nell’insorgenza della sindrome.

In particolare, di una certa rilevanza sono i fattori genetici ed i fattori ambientali: nel primo caso, si ritiene che il disturbo possa essere ereditario, anche se non è stato ancora individuato alcun gene responsabile dello sviluppo della sindrome.

Nel secondo caso, si pensa che determinati fattori ambientali, psicosociali ed infettivi, possano essere indicativi anche se non causare direttamente la sindrome.

Si tratta comunque di valutazioni che, al momento attuale, non hanno ancora alcun peso medico e scientifico rilevante.

Diagnosi della Sindrome di Tourette

La diagnosi della sindrome è particolarmente complicata per due motivi: il primo è che i sintomi specifici del disturbo si presentano per lo più in un’età che rende difficile l’individuazione di un disturbo, perché può essere tipico di alcuni bambini un comportamento particolarmente vivace senza che ciò abbia qualcosa a che vedere con la presenza di una sindrome.

Il secondo motivo è che molti sintomi della sindrome possono essere simili a quelli di altre sindromi e disturbi, come appunto il disturbo ossessivo compulsivo e la sindrome del deficit di attenzione ed iperattività: occorre quindi una certa attenzione ai sintomi ed alla storia clinica e familiare del paziente.

Tuttavia, secondo quanto espresso dal Manuale Diagnostico e Statistico dei Disturbi Mentali (DSM-IV-TR), la diagnosi può essere indicativa in presenza di sintomi (tic motori e sonori) per un periodo di un anno.

È comunque importante non fermarsi al primo segnale: per essere certi di aver fatto correttamente la diagnosi, bisogna effettuare una accurata anamnesi familiare e neuropsicologica, ed eventualmente utilizzare strumenti sofisticati come la risonanza magnetica funzionale.

Il trattamento della Sindrome di Tourette

Il trattamento di questa sindrome può essere effettuato in linea variabile, a seconda della gravità della situazione clinica del paziente.

Trattamento Sindrome di TourettePer lo più, si interviene con una terapia farmacologica che serve però solo a rendere meno evidenti determinati sintomi, come quelli tipici ossessivo compulsivi, quando i sintomi sono molto invalidanti e rendono impossibile la conduzione di una vita sociale normale. Tuttavia, ad oggi, l’unico farmaco riconosciuto per il trattamento di questa sindrome è il Serenase, ma comunque occorre che prima del trattamento sia stata indicata una anamnesi corretta, che sia di aiuto per rendere meno forti i sintomi.

Altre terapie utilizzate per contrastare questi sintomi possono essere psicologiche: grazie all’aiuto ed al supporto di uno psicologo, il paziente può iniziare a prendere confidenza e consapevolezza con il proprio sintomo (o i propri sintomi) ed imparare ad evitarli. Questa tecnica prende il nome di habit reversal, e può essere associata ad altre tecniche quando si presentano altri comportamenti tipici, come quelli autolesionisti.

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