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Neurobehavioral Dimensions of Prader Willi Syndrome: Relationships Between Sleep and Psychosis-Risk Symptoms
Kathleen P O'Hora1,2, Zizhao Zhang3, Ariana Vajdi1
1Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, United States.
Insights
Prader Willi Syndrome (PWS) is linked to psychosis-risk symptoms, particularly those related to sleep disturbance. Remote assessments of neurobehavioral traits and cognition are feasible for PWS research.
Area of Science:
- Neurogenetics
- Psychiatry
- Sleep Medicine
Background:
- Prader Willi Syndrome (PWS) is a genetic disorder affecting paternally imprinted genes at 15q11-q13.
- While physical and medical aspects are known, psychiatric manifestations require further investigation.
Purpose of the Study:
- To conduct the first remote assessment of neurobehavioral traits in PWS.
- To identify predictors of psychosis-risk symptoms and assess cognitive function.
Main Methods:
- Web-based assessment of psychosis-risk symptoms (PQ-B) and sleep behaviors (PSQI) in 128 PWS participants.
- Cognitive assessment using the Penn-CNB in a subset (n=39).
- Analysis of genetic subtypes and their correlation with symptoms and cognition.
Main Results:
- Over half of PWS individuals reported cognitive disorganization; one-third reported unusual beliefs or suspiciousness.
- Sleep disturbance was the strongest predictor of psychosis-risk symptoms.
- Deficits were noted in social cognition and attention; no differences found across genetic subtypes.
Conclusions:
- PWS is associated with high rates of psychosis-risk symptoms, strongly linked to sleep disturbance.
- Remote assessment of neurobehavioral symptoms and cognition in PWS is viable.
- Findings support remote methods for future large-scale studies in rare neurogenetic disorders.
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 (n = 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 p's < 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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