Aberrant, autistic, and food-related behaviors in adults with Prader-Willi syndrome. The comparison between young adults and adults

Ogata, Hiroyuki; Ihara, Hiroshi; Gito, Masao; Sayama, Masayuki; Murakami, Nobuyuki; Ayabe, Tadayuki; Oto, Yuji; Nagai, Toshiro; Saito, Kazutaka

doi:10.1016/j.ridd.2017.12.020

Cited by 10 publications

(7 citation statements)

References 46 publications

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“…In contrast, reduction in amygdala volume and microstructural alterations have also been detected in individuals exposed to childhood maltreatment (CM), including those with depression or borderline personality disorder due to CM 18 , 19 , suggesting that experience-dependent susceptibility is also highly crucial for limbic circuit maturation. Considering the age-related behavioral trajectory, namely, a decline in aberrant behavior from approximately the age of 30 years, typically observed in individuals with PWS 20 , the volume trajectories detected in the current study may be consistent with the developmental characteristics in PWS. Intriguingly, the amygdala has been shown to be larger in the brains of individuals with autism spectrum disorder (ASD) 21 .…”

Section: Discussionsupporting

confidence: 78%

Differential volume reductions in the subcortical, limbic, and brainstem structures associated with behavior in Prader–Willi syndrome

Yamada

Watanabe

Suzuki

2022

Sci Rep

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Individuals with Prader–Willi syndrome (PWS) exhibit complex behavioral characteristics, including hyperphagia, autistic features, and subsequent age-related maladaptive behaviors. While this suggests functional involvements of subcortical, limbic, and brainstem areas, developmental abnormalities in such structures remain to be investigated systematically. Twenty-one Japanese individuals with PWS and 32 healthy controls with typical development were included. T1-weighted three-dimensional structural magnetic resonance images were analyzed for subcortical, limbic, and brainstem structural volumes, with age as a covariate, using a model-based automatic segmentation tool. Correlations were determined between each volume measurement and behavioral characteristics as indexed by questionnaires and block test scores for hyperphagia (HQ), autistic and obsessional traits, non-verbal intelligence (IQ), and maladaptive behavior (VABS_mal). Compared with the control group, the PWS group showed significantly reduced relative volume ratios per total intracranial volume (TIV) in thalamus, amygdala, and brainstem structures, along with TIV and native volumes in all substructures. While the brainstem volume ratio was significantly lower in all age ranges, amygdala volume ratios were significantly lower during early adulthood and negatively correlated to HQ and VABS_mal but positively correlated to Kohs IQ. Thus, limbic and brainstem volume alterations and differential volume trajectories may contribute to the developmental and behavioral pathophysiology of PWS.

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Section: Discussionsupporting

confidence: 78%

Differential volume reductions in the subcortical, limbic, and brainstem structures associated with behavior in Prader–Willi syndrome

Yamada

Watanabe

Suzuki

2022

Sci Rep

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“…The mean BMI (29.2 kg/m 2 ) found in our study was lower than in other samples (Greenswag 1987;Dykens 2004;Sinnema et al 2011;Ogata et al 2018), but higher than in the US multi-site sample (Butler et al 2018: 25.6 kg/m 2 ). To put into context the proportions of obesity in the present study (Figure 1), they can be considered in comparison with a rate of 14.2% among Spanish general population children and adolescents (de Bont et al 2022) and with the rate of Spanish adult patients with bipolar disorder (35.1%) and their control group [7.2%, whose BMI correlated with age (r s = 0.48; P < 0.001)] (Gurpegui et al 2012).…”

Section: Obesitycontrasting

confidence: 81%

Prader–Willi syndrome in a large sample from Spain: general features, obesity and regular use of psychotropic medication

González‐Domenech,

Gurpegui,

González‐Domenech

et al. 2024

J intellect Disabil Res

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BackgroundPrader–Willi syndrome (PWS), a genetically determined disorder, the most frequent cause of early onset obesity, is associated with physical and cognitive dysfunctions and behavioural disturbances; these disturbances are frequently treated with psychotropic medication. The aim of this cross‐sectional study was to describe the characteristics of the first large national sample of persons with PWS in Spain and analyse the relationships of those characteristics with key demographic and clinical factors, particularly with obesity and the regular use of psychotropic medication.MethodsParticipants were recruited among all members of the Spanish Prader–Willi Association who agreed to take part in the study and fulfilled its inclusion criteria. Family and patient demographic features, family size and birth order, intelligence quotient (IQ), anthropometric measures, lifestyle habits, behavioural disturbances (with the Aberrant Behavior Checklist) and clinical data, as well as use of psychotropic drugs and their side effects (with the UKU scale), were collected in genetically confirmed cases of PWS. Bivariate and logistic regression analyses were used for determining the associations of demographic and clinical factors with both obesity and the regular use of psychotropic medication.ResultsThe cohort included 177 participants (aged 6–48 years), that is, 90 (50.8%) males and 87 (49.2%) females. Behavioural disturbances were present in a range of 75% to 93% of participants; psychotropic medication was prescribed to 81 (45.8%) of them. Number of siblings showed a direct correlation with IQ, especially among males, and inappropriate speech was more intense in only‐child females. Obesity was, in parallel, strongly associated with ascending age and with not being currently under growth hormone (GH) treatment. Participants taking any psychotropic medication were characterised by more frequent age ≥30 years, high level of hyperactivity and a psychiatric diagnosis.ConclusionsCharacterisation of persons with PWS in Spain confirms their physical and behavioural phenotype and supports the long‐term application of GH therapy and the rational use of psychotropic medication.

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“…Nevertheless, we did not find a mitigation of hyperphagia in the adult group, since a further increase of the levels of hyperphagia occurred, especially of the Hyperphagic Behavior. Despite the great audience received in the literature about the assumption that hyperphagia decreases and becomes more treatable in the adult age ( 12 ), other recent studies did not find differences in hyperphagia among age groups ( 11 , 38 , 39 ). Similarly, also Dykens et al ( 15 ) even differently grouping participants by age, did not find a decrease of hyperphagia in older age.…”

Section: Discussionmentioning

confidence: 91%

“…PWS is a multifaceted neurodevelopmental disorder characterized by endocrine dysfunction, hypotonia, intellectual disability, psychiatric disorders and obesity ( 1 , 4 ). Psychiatric disorders include a variety of symptoms such as anxiety and depression ( 5 ), affective disorders ( 6 ), temper tantrums ( 7 ), obsessive-compulsive behaviors ( 8 ), self-injurious behaviors ( 9 ), autistic behaviors ( 10 ), and hyperactivity ( 11 ).…”

Section: Introductionmentioning

confidence: 99%

The Hyperphagia Questionnaire: Insights From a Multicentric Validation Study in Individuals With Prader Willi Syndrome

et al. 2022

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Background/ObjectivesThe present study aimed to validate the Italian version of the Hyperphagia Questionnaire (HQ), a 11-items questionnaire developed to assess hyperphagia in individuals with Prader-Willi syndrome (PWS). This is a complex neurodevelopmental disorder characterized by endocrine dysfunction, hypotonia, intellectual disability, psychiatric disorders and obesity.MethodsParents of 219 individuals with PWS (age range 3–54 years; Mage = 17.90; 108 Males), recruited in 12 hospitals in Italy responded to HQ during routine visits. In function of the level of analyses the sample was divided into two subgroups (<18> years) or into four age-subgroups (2.5–4.5; 4.5–8; 8–18; >18 years) corresponding to different clinical stages.ResultsConfirmatory factor analysis (CFA) confirmed the three hyperphagic subdimensions of the original structure (behavior, drive, and severity), but one item was dropped out, reducing the final version to 10 items. Using multi-group CFA, HQ showed satisfactory indexes of measurement invariance by age. Good indexes of internal consistency (Cronbach's alpha and McDonald's Omega coefficients) were found for each subdimension. The three hyperphagia subdimensions positively converged with other food-related measures: emotional overeating, food enjoyment, food responsiveness, and satiety responsiveness. A significant increase of all hyperphagic subdimensions was found across age groups. Higher hyperphagic levels were found in participants with higher body mass index. Hyperphagic drive differently increased in function of the interaction between age and underlying genetic mechanisms.ConclusionThe Italian version of the HQ is a psychometrically valid and reliable instrument for assessing hyperphagia in individuals with PWS. This tool may prove useful to evaluate the efficacy of pharmacologic and rehabilitative treatments.

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Aberrant, autistic, and food-related behaviors in adults with Prader-Willi syndrome. The comparison between young adults and adults

Cited by 10 publications

References 46 publications

Differential volume reductions in the subcortical, limbic, and brainstem structures associated with behavior in Prader–Willi syndrome

Differential volume reductions in the subcortical, limbic, and brainstem structures associated with behavior in Prader–Willi syndrome

Prader–Willi syndrome in a large sample from Spain: general features, obesity and regular use of psychotropic medication

The Hyperphagia Questionnaire: Insights From a Multicentric Validation Study in Individuals With Prader Willi Syndrome

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