Social and emotional processing in Prader-Willi syndrome: genetic subtype differences

Abstract

BackgroundPeople with Prader-Willi syndrome (PWS) demonstrate social dysfunction and increased risk of autism spectrum disorder, especially those with the maternal uniparental disomy (mUPD) versus paternal deletion genetic subtype. This study compared the neural processing of social (faces) and nonsocial stimuli, varying in emotional valence, across genetic subtypes in 24 adolescents and adults with PWS.MethodsUpright and inverted faces, and nonsocial objects with positive and negative emotional valence were presented to participants with PWS in an oddball paradigm with smiling faces serving as targets. Behavioral and event-related potential (ERP) data were recorded.ResultsThere were no genetic subtype group differences in accuracy, and all participants performed above chance level. ERP responses revealed genetic subtype differences in face versus object processing. In those with deletions, the face-specific posterior N170 response varied in size for face stimuli versus inverted faces versus nonsocial objects. Persons with mUPD generated N170 of smaller amplitude and showed no stimulus differentiation. Brain responses to emotional content did not vary by subtype. All participants elicited larger posterior and anterior late positive potential responses to positive objects than to negative objects. Emotion-related differences in response to faces were limited to inverted faces only in the form of larger anterior late positive potential amplitudes to negative emotions over the right hemisphere. Detection of the target smiling faces was evident in the increased amplitude of the frontal and central P3 responses but only for inverted smiling faces.ConclusionPersons with the mUPD subtype of PWS may show atypical face versus object processes, yet both subtypes demonstrated potentially altered processing, attention to and/or recognition of faces and their expressions.

Autism spectrum disorder in Prader–Willi syndrome: A systematic review

“…The initial screen by JB and TG resulted in 27 full‐text articles to be reviewed for eligibility. For the entire systematic review, seven articles were excluded either because of a lack of focus on core ASD symptoms or failure to report prevalence of ASD in those with PWS [Cotton and Richdale, ; Halit et al, ; Dimitropoulos et al, ; Cotton and Richdale, ; Key et al, ; Bruining et al, ; Feldman and Dimitropoulos, ]. For the study aim of investigating ASD core domains in PWS, an additional five articles were not included in the analysis [Beardsmore et al, ; Hou et al, ; Akefeldt and Gillberg, ; Descheemaeker et al, ; Reilly et al, ].…”

Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome

“…Indeed, both neural and genetic studies suggest similarities between PWS, ASD, schizophrenia, and psychosis [ 45 ]. Examining evoked response potential’s (ERP) to images of faces, Key and colleagues [ 46 ] found that individuals with PWS due to mUPD, but not deletions, showed a lack of visual ERP face-specific amplitude increase in N170, a robust pattern also seen in autism and schizophrenia [ 47 ]. Based on structural magnetic resonance imaging, Lukoshe et al [ 48 ] concluded that children with PWS due to mUPD have early deviations in brain development that are reminiscent of those in ASD or schizophrenia.…”

Cognitive and adaptive advantages of growth hormone treatment in children with Prader‐Willi syndrome

“…Some of these features vary across genetic subtypes of PWS. Those with Type I deletions, for example, generally show lower cognitive or adaptive behavior skills, while those with mUPD may have better‐developed verbal than spatial skills, and are more apt to have autism, autistic features and psychosis (Boer et al., ; Dykens, Lee, & Roof, ; Dykens & Roof, ; Key, Jones, & Dykens, ; Whittington et al., ).…”