Lucie Bouvet1, Frédérique Amsellem2, Anna Maruani3, Adelaïde Tonus-Vic Dupont3, Alexandre Mathieu4, Thomas Bourgeron5, Richard Delorme6, Laurent Mottron7. 1. Laboratoire CERPPS (EA7411), Université Toulouse Jean Jaurés, Toulouse, France. Electronic address: lucie.bouvet@univ-tlse2.fr. 2. Human Genetics and Cognitive Functions Unit, Institut Pasteur, Paris, France; Child and Adolescent Psychiatry Department, Hôpital Robert-Debré, APHP, 75019, Paris, France; Fondation FondaMental, 94000, Créteil, France. 3. Human Genetics and Cognitive Functions Unit, Institut Pasteur, Paris, France; Child and Adolescent Psychiatry Department, Hôpital Robert-Debré, APHP, 75019, Paris, France. 4. Human Genetics and Cognitive Functions Unit, Institut Pasteur, Paris, France; CNRS UMR 3571: Genes, Synapses and Cognition, Institut Pasteur, Paris, France. 5. Human Genetics and Cognitive Functions Unit, Institut Pasteur, Paris, France; CNRS UMR 3571: Genes, Synapses and Cognition, Institut Pasteur, Paris, France; Fondation FondaMental, 94000, Créteil, France; Université Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France. 6. Human Genetics and Cognitive Functions Unit, Institut Pasteur, Paris, France; CNRS UMR 3571: Genes, Synapses and Cognition, Institut Pasteur, Paris, France; Child and Adolescent Psychiatry Department, Hôpital Robert-Debré, APHP, 75019, Paris, France; Fondation FondaMental, 94000, Créteil, France; Université Paris Diderot, Sorbonne Paris Cité, Human Genetics and Cognitive Functions, Paris, France. 7. Center of Excellence for Pervasive Developmental Disorders of the University of Montreal (CETEDUM), Rivières-des-Prairies Hospital, Montreal, Quebec, Canada; Research Center of CIUSSS of the North of Montreal and Department of Psychiatry, University of Montreal, Montreal, Quebec, Canada.
Abstract
BACKGROUND: Autism and synesthesia are neurodevelopmental conditions associated with variants of perceptual processing. They also share some genetic variants and include a large magnitude of intra-categorical variation: 60 types for synesthesia, as well as a spectrum for autism. In order to investigate the relationship between these two phenomena, we investigated the family of FC, an autistic individual who also possess savant abilities and synesthesia manifestations. METHOD: Autistic symptoms were assessed for the entire sample of participants entering the study (39 individuals) using the SRS. Participants above threshold were evaluated with standardized diagnostic tools. Synesthesia was explored in the entire participating sample using a self-reported questionnaire. Consistency tests were used for participants who reported synesthetic manifestations. RESULTS: In addition to FC, four individuals with ASD were detected. Fifteen participants self-reported synesthesia (15 sequence-space, 4 sound-shape, 4 day-color), among which nine sequence-space synesthetes satisfied the consistency criteria. Two participants possess both autism and synesthesia. CONCLUSION: This family illustrates the co-segregation of autism and synesthesia. This co-segregation is in favour of a partially overlapping genetic predisposition for both conditions, but also authorizes a large variety of manifestations in both conditions. The high prevalence of sequence-space synesthesia in this family strengthens the previous assumption that this form of synesthesia may be linked to autism. We discuss the potential role of spatial imagery in the development of this form of synesthesia and savant abilities.
BACKGROUND:Autism and synesthesia are neurodevelopmental conditions associated with variants of perceptual processing. They also share some genetic variants and include a large magnitude of intra-categorical variation: 60 types for synesthesia, as well as a spectrum for autism. In order to investigate the relationship between these two phenomena, we investigated the family of FC, an autistic individual who also possess savant abilities and synesthesia manifestations. METHOD:Autistic symptoms were assessed for the entire sample of participants entering the study (39 individuals) using the SRS. Participants above threshold were evaluated with standardized diagnostic tools. Synesthesia was explored in the entire participating sample using a self-reported questionnaire. Consistency tests were used for participants who reported synesthetic manifestations. RESULTS: In addition to FC, four individuals with ASD were detected. Fifteen participants self-reported synesthesia (15 sequence-space, 4 sound-shape, 4 day-color), among which nine sequence-space synesthetes satisfied the consistency criteria. Two participants possess both autism and synesthesia. CONCLUSION: This family illustrates the co-segregation of autism and synesthesia. This co-segregation is in favour of a partially overlapping genetic predisposition for both conditions, but also authorizes a large variety of manifestations in both conditions. The high prevalence of sequence-space synesthesia in this family strengthens the previous assumption that this form of synesthesia may be linked to autism. We discuss the potential role of spatial imagery in the development of this form of synesthesia and savant abilities.
Authors: Tessa M van Leeuwen; Eline van Petersen; Floor Burghoorn; Mark Dingemanse; Rob van Lier Journal: Philos Trans R Soc Lond B Biol Sci Date: 2019-10-21 Impact factor: 6.237