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Comparing social reciprocity in preserved speech variant and typical Rett syndrome during the early years of life

Institution:	1. Rett Expertise Centre—GKC, Maastricht University Medical Centre, Maastricht, The Netherlands;2. Institute of Physiology, Research Unit iDN – interdisciplinary Developmental Neuroscience, Center for Physiological Medicine, Medical University of Graz, Graz, Austria;3. School of Education, Victoria University of Wellington, Wellington, New Zealand;4. Center of Neurodevelopmental Disorders (KIND), Department of Women''s and Children''s Health, Karolinska Institutet, Stockholm, Sweden;5. Department of Child and Adolescent Psychiatry and Psychotherapy, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany;6. Department of Child and Adolescent Psychiatry and Psychotherapy, Medical University of Vienna, Vienna, Austria;7. BEE—PRI: Brain, Ears & Eyes—Pattern Recognition Initiative, BioTechMed—Graz, Graz, Austria;1. Fisheries College, Ocean University of China, Qingdao 266003, China;2. College of Life Science and Technology, Harbin Normal University, Harbin 150025, China;1. Service d’ophtalmologie, CHU de Bordeaux, place Amélie-Rabat-Leon, 33000 Bordeaux, France;2. University Bordeaux, ISPED, 33000 Bordeaux, France;3. Inserm, U1219, Bordeaux Population Health Research Center, 33000 Bordeaux, France;1. Service d’ophtalmologie, université Paris Est Créteil, CHI de Créteil, 40, avenue de Verdun, 94000 Créteil, France;2. Centre Explore Vision, 75001 Paris, France;3. Service d’ophtalmologie, groupement des hôpitaux catholique de Lille, université catholique de Lille, 59000 Lille, France;4. Centre ophtalmologique Rabelais, 69003 Lyon, France;5. Centre Atlantique de la Vision, 17140 La Rochelle, France;6. Service d’ophtalmologie, CHU de Dijon, 21079 Dijon, France;7. Centre de recherche clinique, université Paris Est Créteil, CHI de Créteil, 94000 Créteil, France;1. Midwest Eye Institute, Indianapolis, Indiana;2. Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania;3. Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio;4. Department of Ophthalmology, Duke University, Raleigh, North Carolina;1. Department of Ophthalmology, American University of Beirut, Beirut, Lebanon;2. Department of Global and Public Health, Weill Cornell Medical College, Doha, Qatar;3. Department of Ophthalmology, American Hospital Dubai, Dubai, United Arab Emirates

Abstract:	This study compared early markers of social reciprocity in children with typical Rett syndrome (RTT) and in those with the preserved speech variant (PSV) of RTT. Retrospective video analysis of 10 toddlers with typical RTT and five with PSV investigated participants’ orientation to their name being called between the ages of 5 and 24 months, prior to their diagnosis. From analysis of the recordings two distinct profiles were apparent. Although response rate was higher in girls with typical RTT than PSV at 5 to 8 months this noticeably reversed from 9 to 12 months onwards. By two years of age there was a markedly higher rate and range of responses from girls with PSV. This study contributes to the delineation of different profiles for the variants of RTT.

Keywords:	Rett syndrome Preserved speech variant Family videos Home videos Response to name Retrospective video analysis Social awareness
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