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040GNTSL3

Genetic Syndromes

This TU is part of the bachelor’s degree in Speech and Language Therapy, in semester 4. It is mandatory. It allows students: - To acquire knowledge about communication and language acquisition in individuals with genetic disorders and intellectual disability. -To conduct appropriate communication and language assessments with individuals with genetic disorders and intellectual disability. -To gain important knowledge about collaboration between SLPs and different stakeholders working with individuals with genetic disorder and intellectual disability. This TU contributes to the development of the following competencies: -Clinical approach: conduct appropriate interventions for screening and assessment in SLT. -Collaboration: collaborate with different stakeholders in order to establish appropriate intervention adapted to the context, and suited to each individual. -Communication: Provide health professionals, parents and patient’s environment with information about the specificities of the disorders encountered and their impact on the individual’s life, for prevention and screening purposes.


Temps présentiel : 15 heures


Charge de travail étudiant : 40 heures


Méthode(s) d'évaluation : Examen final, Travaux pratiques contrôlés


Référence :
Abbeduto, L., Warren, S. F., & Conners, F. A. (2007). Language development in Down syndrome: From the prelinguistic period to the acquisition of literacy. Mental retardation and developmental disabilities research reviews, 13(3), 247-261 Alfieri, P., Menghini, D., Marotta, L., De Peppo, L., Ravà, L., Salvaguardia, F., ... & Vicari, S. (2017). A comparison between linguistic skills and socio‐communicative abilities in Williams syndrome. Journal of Intellectual Disability Research, 61(9), 866-876. Brady, N. C., Bruce, S., Goldman, A., Erickson, K., Mineo, B., Ogletree, B. T., ... & Wilkinson, K. (2016). Communication services and supports for individuals with severe disabilities: Guidance for assessment and intervention. American journal on intellectual and developmental disabilities, 121(2), 121-138. Brue, A. W., & Wilmshurst, L. (2016). Essentials of intellectual disability assessment and identification. John Wiley & Sons. Grieco, J., Pulsifer, M., Seligsohn, K., Skotko, B., & Schwartz, A. (2015, June). Down syndrome: Cognitive and behavioral functioning across the lifespan. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 169, No. 2, pp. 135-149). Kent, R. D., & Vorperian, H. K. (2013). Speech impairment in Down syndrome: A review. Journal

Ce cours est proposé dans les diplômes suivants
 Bachelor in speech and language therapy