Abstract
ABSTRACT Prader-Willi Syndrome (PWS) is a neurodevelopmental genetic disorder with executive deficits. Planning is one of the impaired executive functions implied in the regulation of behavior and everyday actions. We aimed to explore the feasibility and the effectiveness of a metacognitive strategy training designed to improve planning in adults with PWS using a double-blind between-group (training versus usual care) randomized controlled trial, with computerized tests and paper-pencil ecological outcome measures targeting planning, other executive functions, and achievement of personalized goal. Results showed better performances in several executive tasks and in achievement of personalized goals after both interventions, but better improvement for the experimental group (n = 27) compared to control (n = 26) only on the task assessing planning abilities. Interviews with occupational therapists demonstrated the feasibility of this training with this population. Despite a small number of sessions, the metacognitive strategy training showed encouraging results on planning abilities of patients.
Highlights
IntroductionPrader-Willi Syndrome is a neurodevelopmental genetic disorder characterized by various expressions of endocrine, neu rologic, cognitive and behavioral symptoms. The disorder is caused by the loss of expression of the imprinted genes from the 15q11q13 region of the paternal chromosome 15.2Approximately 60% of cases are due to the deletion of the whole 15q11q13 region (type I deletion) or a part of it (type II deletion) and in 35% of cases, the entire 15th maternal chromosome is duplicated and the paternal chromosome is lost (uniparental maternal disomy). PWS is characterized by infantile hypotonia, mental retardation, feeding difficulty in infancy that evolves to an extreme drive to eat in childhood, dysmorphic features, short stature, hypogonadism, sleep apnea, diabetes, and severe maladaptive behaviors including obsessive, compulsive, and oppositional behaviors. Speech and language skills are reported to be often impaired.6Intellectual disability and deficit in executive functions are well documented in PWS: deficits in inhibition, switching, updat ing, cognition estimation, planning Executive functions (EF) are essential to allow a flexible and context-appropriate behavior when facing a new or complex situation. Planning is conceived as a higher cognitive function that implies the effective inhibition, updating and shifting processes
The aim of this study was to assess the feasibility and effec tiveness of a metacognitive strategy training focusing on planning difficulties in adults with Prader-Willi Syndrome (PWS)
On the main outcome measure, that is, planning assessed with the Modified Six Elements task (MSET), the experimental group performed better than the control group, which suggests an effect of our program on planning abilities
Summary
Prader-Willi Syndrome is a neurodevelopmental genetic disorder characterized by various expressions of endocrine, neu rologic, cognitive and behavioral symptoms. The disorder is caused by the loss of expression of the imprinted genes from the 15q11q13 region of the paternal chromosome 15.2Approximately 60% of cases are due to the deletion of the whole 15q11q13 region (type I deletion) or a part of it (type II deletion) and in 35% of cases, the entire 15th maternal chromosome is duplicated and the paternal chromosome is lost (uniparental maternal disomy). PWS is characterized by infantile hypotonia, mental retardation, feeding difficulty in infancy that evolves to an extreme drive to eat in childhood, dysmorphic features, short stature, hypogonadism, sleep apnea, diabetes, and severe maladaptive behaviors including obsessive, compulsive, and oppositional behaviors. Speech and language skills are reported to be often impaired.6Intellectual disability and deficit in executive functions are well documented in PWS: deficits in inhibition, switching, updat ing, cognition estimation, planning Executive functions (EF) are essential to allow a flexible and context-appropriate behavior when facing a new or complex situation. Planning is conceived as a higher cognitive function that implies the effective inhibition, updating and shifting processes.. Prader-Willi Syndrome is a neurodevelopmental genetic disorder characterized by various expressions of endocrine, neu rologic, cognitive and behavioral symptoms.. The disorder is caused by the loss of expression of the imprinted genes from the 15q11q13 region of the paternal chromosome 15.2. 60% of cases are due to the deletion of the whole 15q11q13 region (type I deletion) or a part of it (type II deletion) and in 35% of cases, the entire 15th maternal chromosome is duplicated and the paternal chromosome is lost (uniparental maternal disomy).. Intellectual disability and deficit in executive functions are well documented in PWS: deficits in inhibition, switching, updat ing, cognition estimation, planning Executive functions (EF) are essential to allow a flexible and context-appropriate behavior when facing a new or complex situation..
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