Face Discrimination Skills in Prader-Willi Syndrome and Autism Spectrum Disorder

Feldman, Benjamin H.; Dimitropoulos, Anastasia

doi:10.1080/19315864.2013.857744

Cited by 11 publications

(7 citation statements)

References 80 publications

(120 reference statements)

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“…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, ].…”

Section: Resultsmentioning

confidence: 99%

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

Bennett

Germani

Haqq

et al. 2015

American J of Med Genetics Pt A

104

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Prader-Willi syndrome (PWS) is a rare genetic disorder that results from lack of expression of paternally-derived genes on chromosome 15q11-13; caused by a deletion (DEL), uniparental disomy (UPD), or a rare imprinting center defect. PWS is associated with a distinct behavioral phenotype that in some respects overlaps with autism spectrum disorder (ASD), a neurodevelopmental disorder characterized by restricted or repetitive behaviors (RRBs) and social-communication impairment. The goal of this review was to (i) review published literature investigating core ASD symptoms in PWS and (ii) provide a prevalence estimate of ASD in PWS. Two independent reviewers searched Medline, CINAHL, PsychINFO, Embase, and Web of Science to find studies that answered the research questions. Individuals with PWS demonstrate significant levels of RRBs and social-communication impairment, in some reports reaching similar levels to those of non-PWS ASD comparison groups. Individuals with UPD had more social-communication impairment than those with DEL. Of 786 PWS participants, 210 (26.7%) were reported as meeting criteria for ASD, either based on clinical diagnosis or by exceeding clinical cut-points on relevant ASD symptom measures. In studies that distinguished genetic subtypes, rates of ASD were higher in individuals with PWS with UPD (67 of 190; 35.3%) than those with DEL (47 of 254; 18.5%). Published data on the association of PWS and ASD to date are limited to sample means of 8 years of age and older. Further research is needed to identify early markers of ASD in PWS children, to support earlier diagnosis and intervention for this important comorbidity.

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Section: Resultsmentioning

confidence: 99%

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

Bennett

Germani

Haqq

et al. 2015

American J of Med Genetics Pt A

104

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“…While the study of Key et al [29] found that only UPD patients didn’t present typical ERP face response, the study of Halit et al [28] reported an overall typical face scalp distribution in PW group and behavioural measures in the normal range. On the opposite, the study of Feldman et al [21] reported a behavioural deficit in PWS during a face discrimination task, while both genetic subtypes being similarly affected. Altogether these limited number of studies present several aspects of disagreement while pointing toward the fact that patients with PWS display impaired face processing skills that need further investigation.…”

Section: Introductionmentioning

confidence: 99%

“…In addition, patients with the DEL versus UPD subtype perform differently in visuospatial tasks [21] and in visuomotor integration [22], suggesting that visual processing is more efficient in DEL than UPD.…”

Section: Introductionmentioning

confidence: 99%

“…We showed that their overall performances were poorer than those of controls, meaning that individuals with PWS have a human voice processing deficit [30]. We then looked at another important social skill, namely face processing, and found that the literature in PWS is sparse and contradictory [21, 28, 29]. While the study of Key et al [29] found that only UPD patients didn’t present typical ERP face response, the study of Halit et al [28] reported an overall typical face scalp distribution in PW group and behavioural measures in the normal range.…”

Section: Introductionmentioning

confidence: 99%

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Face processing and exploration of social signals in Prader-Willi syndrome: a genetic signature

Strenilkov

Mantoulan²,

Thuilleaux

et al. 2019

Orphanet J Rare Dis

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BackgroundFaces are critical social cues that must be perfectly processed in order to engage appropriately in everyday social interactions. In Prader-Willi Syndrome (PWS), a rare genetic disorder characterized by cognitive and behavioural difficulties including autism spectrum disorder, the literature referring to face processing is sparse. Given reports of poor social interactions in individuals with PWS, we sought to assess their face and emotion recognition skills during eyetracking recordings.ResultsCompared with controls, patients with PWS performed more poorly on face/emotion recognition. We observed atypical facial exploration by patients with maternal disomy. These patients looked preferentially at the mouth region, whereas patients with a deletion and controls were more attracted to the eye region. During social scenes, the exploration became more atypical as the social content increased.ConclusionsOur comprehensive study brings new insights into the face processing of patients with PWS. Atypical facial exploration was only displayed by patients with the maternal disomy subtype, corresponding to their higher rate of autism spectrum disorder. This finding strongly argues in favor of early identification of this genetic subgroup in order to optimize care by implementing tailored interventions for each patient as soon as possible.

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“…Individuals with PWS take very little information into account to judge a situation. They focus on details that are mostly irrelevant and have great difficulty in figuring a global representation of the situation [10,24,25]. Regarding face analysis, they tend to neglect the eye area whereas it is the part of the face that contains the most information about expressions (particularly for the distinction of negative emotions).…”

Section: Introductionmentioning

confidence: 99%

Equivocal expression of emotions in children with Prader-Willi syndrome: what are the consequences for emotional abilities and social adjustment?

Famelart¹,

Diene²,

Çabal-Berthoumieu³

et al. 2020

Orphanet J Rare Dis

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Background: People with Prader-Willi Syndrome (PWS) experience great difficulties in social adaptation that could be explained by disturbances in emotional competencies. However, current knowledge about the emotional functioning of people with PWS is incomplete. In particular, despite being the foundation of social adaptation, their emotional expression abilities have never been investigated. In addition, motor and cognitive difficultiescharacteristic of PWS-could further impair these abilities. Method: To explore the expression abilities of children with PWS, twenty-five children with PWS aged 5 to 10 years were assessed for 1) their emotional facial reactions to a funny video-clip and 2) their ability to produce on demand the facial and bodily expressions of joy, anger, fear and sadness. Their productions were compared to those of two groups of children with typical development, matched to PWS children by chronological age and by developmental age. The analyses focused on the proportion of expressive patterns relating to the target emotion and to untargeted emotions in the children's productions. Results: The results showed that the facial and bodily emotional expressions of children with PWS were particularly difficult to interpret, involving a pronounced mixture of different emotional patterns. In addition, it was observed that the emotions produced on demand by PWS children were particularly poor and equivocal. Conclusions: As far as we know, this study is the first to highlight the existence of particularities in the expression of emotions in PWS children. These results shed new light on emotional dysfunction in PWS and consequently on the adaptive abilities of those affected in daily life.

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Face Discrimination Skills in Prader-Willi Syndrome and Autism Spectrum Disorder

Cited by 11 publications

References 80 publications

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

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

Face processing and exploration of social signals in Prader-Willi syndrome: a genetic signature

Equivocal expression of emotions in children with Prader-Willi syndrome: what are the consequences for emotional abilities and social adjustment?

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