AI Article Synopsis
- Prader Willi Syndrome (PWS) is a genetic disorder linked to abnormal gene expression, leading to various physical and psychiatric symptoms, with recent research focusing on its neurobehavioral and psychiatric aspects.
- A web-based assessment of 128 PWS participants assessed psychosis-risk symptoms and sleep behaviors, uncovering that over half experienced cognitive disorganization and a significant portion reported unusual beliefs and suspiciousness.
- Sleep disturbances were the strongest predictors of psychosis-risk symptoms, and cognitive assessments revealed notable deficits in social cognition, particularly in face-related tasks, without significant differences in the severity of psychosis-risk symptoms.
Article Abstract
Background: Prader Willi Syndrome (PWS) is a genetic disorder caused by the absence of expression of the paternal copies of maternally imprinted gene(s) located at 15q11-q13. While the physical and medical characteristics of PWS, including short stature, hyperphagia and endocrine dysfunction are well-characterized, systematic investigation of the long-recognized psychiatric manifestations has been recent.
Methods: Here, we report on the first remote (web-based) assessment of neurobehavioral traits, including psychosis-risk symptoms (Prodromal Questionnaire-Brief Version; PQ-B) and sleep behaviors (Pittsburgh Sleep Quality Index), in a cohort of 128 participants with PWS, of whom 48% had a paternal deletion, 36% uniparental disomy, 2.4% an imprinting mutation and 13% unknown mutation (mean age 19.3 years ± 8.4; 53.9% female). We aimed to identify the most informative variables that contribute to psychosis-risk symptoms. Multiple domains of cognition (accuracy and speed) were also assessed in a subset of PWS participants ( = 39) using the Penn Computerized Neurocognitive Battery (Penn-CNB).
Results: Individuals with PWS reported a range of psychosis-risk symptoms, with over half reporting cognitive disorganization (63.1%) and about one third reporting unusual beliefs (38.6%) and/or suspiciousness (33.3%). Subjectively-reported sleep quality, nap frequency, sleep duration, sleep disturbance, and daytime dysfunction were significant predictors of psychosis-risk symptom frequency and severity (all < 0.029). Sleep disturbance ratings were the strongest predictors of psychosis-risk symptoms. Regarding cognition, individuals with PWS showed the most prominent deficits in accuracy on measures of social cognition involving faces, namely Face Memory, Age Differentiation and Emotion Recognition, and greatest slowing on measures of Attention and Emotion Recognition. However, there were no significant differences in psychosis-risk symptoms or cognitive performance as a function of PWS genetic subtype.
Conclusions: PWS is associated with a high prevalence of distressing psychosis-risk symptoms, which are associated with sleep disturbance. Findings indicate that self/parent-reported neurobehavioral symptoms and cognition can be assessed remotely in individuals with PWS, which has implications for future large-scale investigations of rare neurogenetic disorders.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9043455 | PMC |
| http://dx.doi.org/10.3389/fpsyt.2022.868536 | DOI Listing |
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