PET Scan Perfusion Imaging in the Prader–Willi Syndrome: New Insights into the Psychiatric and Social Disturbances

Abstract

The Prader-Willi syndrome (PWS), a rare multisystem genetic disease, leads to severe disabilities, such as morbid obesity, endocrine dysfunctions, psychiatric disorders, and social disturbances. We explored the whole brain of patients with PWS to detect abnormalities that might explain the behavioral and social disturbances, as well as the psychiatric disorders of these patients. Nine patients with PWS (six males, three females; mean age 16.4 years) underwent a positron emission tomography (PET) scan with H 2 15 O as a tracer to measure regional cerebral blood flow (rCBF). The images were compared with those acquired from nine controls (six males, three females; mean age 21.2 years). A morphologic magnetic resonance imaging (MRI) was also performed in PWS patients, and their cognitive and behavioral skills were assessed with Wechsler Intelligence Scale for Children III and the Child Behavior Check List (CBCL). The MRI images showed no evident anatomic abnormalities, whereas PET scans revealed hypoperfused brain regions in PWS patients compared with controls, particularly in the anterior cingulum and superior temporal regions. We observed a significant relationship (P < 0.05) between rCBF in the hypoperfused regions and CBCL scores. The functional consequences of these perfusion abnormalities in specific brain regions might explain the behavioral and social problems observed in these individuals.

From Prader–Willi Syndrome to Psychosis: Translating Parent-of-Origin Effects into Schizophrenia Research

“…In contrast, in the temporal lobe, there are centers responsible for processing auditory information and understanding of spoken language, the failure of which may result in problems with communication. Interestingly, similar changes in brain neuroimaging are observed in patients with autism [56]. This study is consistent with the ones described previously.…”

“…Reduced volume of grey matter was more extensive in PWS patients with deletion and male gender in schizophrenia [53,54]. Studies on regional cerebral flow (rCBF) in positron emission tomography (PET) revealed areas of hypoperfusion in the anterior cingulate and the upper part of the temporal lobe in PWS patients [56]. Changes observed in the functional neuroimaging refer to the structures responsible for regulation between cognitive and emotional processes, pain perception, empathy and motivation.…”

Brain structural alterations in obese children with and withoutPrader‐Willi Syndrome

“…Moreover, emerging functional neuroimaging evidence indicates the presence of hyper‐responsive neural networks that involve brain regions, such as the hypothalamus, ventromedial prefrontal cortex, and insula, as well as heightened reward circuitry activation in PWS in response to food stimulation [Dimitropoulos et al, ; Holsen et al, ; Mantoulan et al, ; Miller et al, ; Moran and Westerterp‐Plantenga, ; Ogura et al, ; Shapira et al, ]. Compared with body mass index (BMI)‐matched non‐PWS obese subjects, PWS subjects exhibited hyper‐activations in the subcortical reward circuitry and hypo‐activation in cortical inhibitory regions [Holsen et al, ].…”

Le syndrome de Prader-Willi en 2015

“…De plus, les études d'imagerie fonctionnelle cérébrale montrent qu'il existe des anomalies très variées de perfusion et de métabolisme qui ne touchent pas seulement l'hypothalamus. Il existe en effet de nombreuses altérations dans le réseau neuronal régulant l'appétit, qui implique en particulier l'hypothalamus, le cingulum antérieur, le cervelet, le cortex préfrontal et l'insula [9][10][11]. Il semblerait que ce soit surtout un défaut de contrôle de la prise alimentaire qui sous-tende le comportement alimentaire.…”