Jean-Louis Adrien1, Emmanuelle Taupiac2, Eric Thiébaut3, Marie-Anna Paulais4, Julien Van-Gils5, Kelley Kaye6, Romuald Blanc7, Maria Pilar Gattegno8, Yves Contejean6, Grégory Michel9, Annika Dean10, Catherine Barthélémy11, Didier Lacombe5. 1. Laboratory of Psychopathology and Health Processes (EA n°4057), Department of Psychology, University of Paris, 71 avenue Edouard Vaillant, 92774 Boulogne-Billancourt, France. Electronic address: jean-louis.adrien@parisdescartes.fr. 2. Department of Medical Genetics, CHU Bordeaux, Place Amélie Raba Léon, 33076 Bordeaux Cedex, France. 3. Lorrain Laboratory of Psychology and Neuroscience of Behavior Dynamics (2LPN), University of Lorraine, 34, Cours Léopold, BP 3397, 54015 Nancy, France. 4. Psychology Practice ESPAS-Sup, 18, rue René-Firmin, 60700 Pont-Ste-Maxence, France. 5. Department of Medical Genetics, CHU Bordeaux, Place Amélie Raba Léon, 33076 Bordeaux Cedex, France; INSERM Unit 1211, Laboratory "Rare Diseases: Genetics and Metabolism", University of Bordeaux, Place Amélie Raba Léon, 33076 Bordeaux Cedex, France. 6. Child Psychiatry Department of Sainte Anne Hospital, CREDAT, 1, rue Cabanis 75014, Paris, France. 7. Laboratory of Psychopathology and Health Processes (EA n°4057), Department of Psychology, University of Paris, 71 avenue Edouard Vaillant, 92774 Boulogne-Billancourt, France; Child Psychiatry Department of University Hospital Bretonneau, 2, boulevard Tonnellé, 37000 Tours, France; Direction of the Scientific Interest Grouping for Autism and Neurodevelopmental Disorders, INSERM, Paris, France. 8. Laboratory of Psychopathology and Health Processes (EA n°4057), Department of Psychology, University of Paris, 71 avenue Edouard Vaillant, 92774 Boulogne-Billancourt, France; Psychology Practice ESPAS-Sup, 3 rue Victoire-Américaine, 33000 Bordeaux, France. 9. Institute of Criminal Sciences and Justice (ISCJ - EA 4061), University Victor Segalen Bordeaux 2, 4, rue du Maréchal Joffre - CS, 61752 - 33075 Bordeaux Cedex, France. 10. Fondation Les Amis de l'Atelier, 17 rue de l'égalité, 92290 Châtenay-Malabry, France. 11. Direction of the Scientific Interest Grouping for Autism and Neurodevelopmental Disorders, INSERM, Paris, France.
Abstract
BACKGROUND: Cognitive and socio-emotional profiles of children with CREBBP-related Rubinstein-Taybi syndrome (RSTS 1), children with Autism Spectrum Disorder (ASD) with severe intellectual disability and developmental ages (DA) under 24 months, and typically developing (TD) children with similar DA were compared. PARTICIPANTS: Thirty-one children with RSTS 1 (mean chronological age, CA = 59,8 months; 33-87) and thirty children with ASD, matched on CA and DA and developmental quotients (DQ), were compared to thirty TD children (CA ranged from 12 to 24 months). METHODS: Cognitive and socio-emotional developmental levels, DA and DQ were assessed with appropriated tests. RESULTS: More socio-emotional developmental similarities were observed between TD and RSTS 1 than between TD and ASD children. Clinical groups displayed similar developmental delays in cognitive (self-image, symbolic play, means-ends, and object permanence) and socio-emotional domains (language and imitation). Children with RSTS 1 exhibited higher developmental levels in behavior regulation, joint attention, affective relations, emotional expression domains, and a lower developmental level in spatial relations domain. CONCLUSIONS: Common interventions centered on symbolic play, self-image, language, and imitation for both clinical groups, and differentiated interventions centered on spatial abilities for RSTS 1 children and on social abilities for ASD could be used by caregivers were suggested.
BACKGROUND: Cognitive and socio-emotional profiles of children with CREBBP-related Rubinstein-Taybi syndrome (RSTS 1), children with Autism Spectrum Disorder (ASD) with severe intellectual disability and developmental ages (DA) under 24 months, and typically developing (TD) children with similar DA were compared. PARTICIPANTS: Thirty-one children with RSTS 1 (mean chronological age, CA = 59,8 months; 33-87) and thirty children with ASD, matched on CA and DA and developmental quotients (DQ), were compared to thirty TD children (CA ranged from 12 to 24 months). METHODS: Cognitive and socio-emotional developmental levels, DA and DQ were assessed with appropriated tests. RESULTS: More socio-emotional developmental similarities were observed between TD and RSTS 1 than between TD and ASD children. Clinical groups displayed similar developmental delays in cognitive (self-image, symbolic play, means-ends, and object permanence) and socio-emotional domains (language and imitation). Children with RSTS 1 exhibited higher developmental levels in behavior regulation, joint attention, affective relations, emotional expression domains, and a lower developmental level in spatial relations domain. CONCLUSIONS: Common interventions centered on symbolic play, self-image, language, and imitation for both clinical groups, and differentiated interventions centered on spatial abilities for RSTS 1children and on social abilities for ASD could be used by caregivers were suggested.
Authors: Urszula Sajewicz-Radtke; Paweł Jurek; Michał Olech; Ariadna B Łada-Maśko; Anna M Jankowska; Bartosz M Radtke Journal: Int J Environ Res Public Health Date: 2022-06-13 Impact factor: 4.614
Authors: Neelam Awan; Effie Pearson; Lauren Shelley; Courtney Greenhill; Joanne Tarver; Jane Waite Journal: Am J Med Genet A Date: 2022-06-21 Impact factor: 2.578