Università degli studi di Modena e Reggio Emilia

Università degli Studi di Modena e Reggio Emilia
Corso di laurea in infermieristica - Sede di Modena

Abstract

Trichothiodystrophy (TTD) is a rare genetic syndrome that defines a group of heterogeneous hereditary diseases. The variants of TTD describe a fairly variable clinical picture characterized, among other things, by brittle hair, congenital ichthyosis, nail dysplasia and delay in physical and mental development. In addition to the phenotypic description of the disease, we will investigate the intellectual disability that it entails and the management and taking charge of the patient through appropriate rehabilitation interventions and through neuropsychiatric support. In particular, we will focus on the possible analogies with the symptomatology of Autism Spectrum Disorders, reporting two studies examined in the literature and analyzing the clinical-welfare history of a twenty-one-year-old boy suffering from Trichothiodystrophy and delineated by signs and symptoms of autism such as communication and impaired social interaction, stereotyped, rigid and aggressive behaviors, restriction of interests, even if a clinical diagnosis of autism has never been placed. Since a specific therapy is not available to date, psychotherapeutic-rehabilitative intervention lines are followed, based on the systematic use of reinforcement, works and activities to develop metacognitive skills, programs to enhance autonomy, motivation and self-esteem, which are fundamental. to maintain a state of psychophysical well-being of the person and evaluating the various assistance interventions in order to obtain the best health conditions understood as a state of complete physical, mental and social well-being.