Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability
TAUPIAC, Emmanuelle
Institut de Sciences Criminelles et de la Justice [ISCJ]
Service de génétique médicale
Institut de Sciences Criminelles et de la Justice [ISCJ]
Service de génétique médicale
THIÉBAUT, Éric
Laboratoire lorrain de psychologie et neurosciences de la dynamique des comportements [2LPN]
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Laboratoire lorrain de psychologie et neurosciences de la dynamique des comportements [2LPN]
TAUPIAC, Emmanuelle
Institut de Sciences Criminelles et de la Justice [ISCJ]
Service de génétique médicale
Institut de Sciences Criminelles et de la Justice [ISCJ]
Service de génétique médicale
THIÉBAUT, Éric
Laboratoire lorrain de psychologie et neurosciences de la dynamique des comportements [2LPN]
< Réduire
Laboratoire lorrain de psychologie et neurosciences de la dynamique des comportements [2LPN]
Langue
EN
Article de revue
Ce document a été publié dans
Journal of Intellectual and Developmental Disability. 2021, vol. 46, n° 1, p. 80-89
Résumé en anglais
Background: Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterised by several typical somatic characteristics and by developmental disabilities with various degrees of severity. Focusing ...Lire la suite >
Background: Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterised by several typical somatic characteristics and by developmental disabilities with various degrees of severity. Focusing on children with RSTS, the aim of this study was to describe their psychomotor, cognitive, and socio-emotional developmental profiles.Method: Twenty-three children with RSTS (12 boys; 11 girls; mean chronological age: 4 years and 10 months) with severe intellectual disability (mean developmental quotient = 32.39) were recruited from an Expert Department of Medical Genetics. Developmental assessments were carried out with the Brunet-Lézine-Revised scale and the Social Cognitive Evaluation Battery.Results: The participants’ developmental profiles were characterised by heterogeneous psychomotor development, homogeneous cognitive and socio-emotional development, by more severe delays in expressive language, vocal imitation, and symbolic play skills, and by better developmental levels in socio-emotional abilities.Conclusions: Based on these atypical developmental profiles, early interventions should target the three most delayed abilities.< Réduire
Mots clés en anglais
Severe intellectual disability
Rubinstein-Taybi syndrome
expressive language delay
symbolic play delaya
typical developmental profile
intervention targets
Unités de recherche