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

Les prérequis de ce cours sont les suivants
 Pediatrics and genetics
Communication and oral language development
Ce cours est proposé dans les diplômes suivants
 Bachelor in speech and language therapy