Assessment of specific cognitive and linguistics phenotypes in neurodevelopmental genetic syndromes

Eliseo Diez-Itza

COORDINATOR

SYMPOSIUM SPEAKERS
Short CV

Eliseo Diez Itza is Associate Professor of Developmental Psychology and Education at the University of Oviedo, in the degrees of Psychology (“Development, Communication and Language Acquisition”) and Speech Therapy (“Language Acquisition and Speech Therapy”, “Speech Therapy Intervention in Intellectual and Developmental Disabilities”).

He has earned degrees as a Linguist, Psychologist and Speech Therapist and is principal investigator of the multidisciplinary group LOGIN (Logopedics and Child Language). He collaborates with the CHILDES Project of the International Association for the Study of Child Language.

He is the director of the SYNDROLING Project of comparative linguistic analysis of genetic syndromes, funded with grants from the National R+D+i Plan. He coordinates the IMPULSO(R Project for digitalization and telepractice in Speech Therapy.

He was a founding member and president of the Association for the Study of Language Acquisition (AEAL). He has been Vice-Dean of Speech Therapy and deputy director of the Institute of Education at the University of Oviedo.

He was visiting scholar in the “Department of Language Development” at Harvard University, in the master’s degree in phonic studies (CSIC) and in the master’s degree in Neurorehabilitation (Gimbernat-Cantabria).

He was the editor of the Journal of research in education “Aula Abierta”. Associate editor of the AELFA Journal (Elsevier) and Review editor of Frontiers in Psychology and Frontiers in Communication. Member of the Editorial Board of the Journals “Psicodidáctica” and “Revista de Psicología y Educación”.

He has published his work in international journals and publishers (Springer, John Benjamins, De Gruyter, Routledge, Oxford University Press) and in intervention guides for professionals and families on Williams syndrome and Fragile X syndrome, collaborating with different associations of people with intellectual disabilities.

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Symposium abstract

In the context of the new paradigm in the field of intellectual and developmental disabilities, the diagnosis based on genetic etiology has acquired special relevance in the last decades, as specific cognitive-behavioral phenotypes have been revealed in what had been considered until then a global deficit with different degrees of impairment.

Such assumptions began to be questioned by the American Down Syndrome Association, and the comparative research on Down syndrome and Williams syndrome at the Salk Institute confirmed very well differentiated syndromic profiles. From this point on, a paradigm of research on the syndromic specificity of language as a prelude to the description of characteristic behavioral phenotypes for the different genetic syndromes, with important clinical and educational implications, was established, in which the four papers presented in the symposium are included.

The aim of the symposium is therefore to present and discuss several research studies on the cognitive and linguistic profiles of two genetic syndromes: Down syndrome and Noonan syndrome. A first study analyzes the perception and production of prosodic forms in adolescents and young adults with Down syndrome using the Profiling Elements of Prosody for Speech and Communication (PEPS-C) battery.

The second study, based on telepractice, examines the relationships between nonverbal reasoning and inhibitory control, on the one hand, and various linguistic indices obtained from the CELF-5, the mean length of utterances, and morphological errors in adolescents with Noonan’s syndrome.

The two investigations to be presented next deal with the pragmatic profiles of both syndromes and, specifically, with narrative microstructure and macrostructure. In one of them, in children with Noonan’s syndrome, the recall of the narrative structure of a cartoon episode is linked to a theory of mind assessment task (false belief) contextualized in that episode.

In the study closing the symposium, the narrative skills of children with Down syndrome are explored by means of the classic paradigm of the story “Frog Goes to Dinner”, using the “Narrative Scoring Scheme”, and a narrative intervention is proposed.

Taken together, the studies presented at the symposium make a significant and novel contribution to areas in need of research with a focus on informing targeted and personalized evidence-based interventions.

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