Abstract
In this study we present the results of a speech and language therapy intervention in a case of a child with a rare disease -partial tetrasomy 13q11q12.12. At the age of 4, a first evaluation is performed (T1), and treatment goals are set. Six months after the beginning of the treatment, the child is re-evaluated (T2) and a new specific intervention program is designed. After another 6 months of treatment, the child is evaluated again in order to know the possible progress experienced (T3). The results of the intervention show a clear progression between T1 and T2 in all the linguistic prerequisites worked on, such as attention maintenance and communicative intention. Likewise, between T2 and T3, the greatest progress is observed in the development of expressive language, although notable improvements in the aforementioned linguistic prerequisites can also be observed. These results are discussed in the light of the few previous existing studies with patients with rare genetic diseases.
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