Effect of Genotype and Previous GH Treatment on Adiposity in Adults With Prader-Willi Syndrome

Coupaye, Muriel; Tauber, Maïthé; Cuisset, Laurence; Laurier, Virginie; Bieth, Éric; Oppert, Jean‐Michel; Clément, Karine; Poitou, Christine

doi:10.1210/jc.2016-2163

Cited by 36 publications

(51 citation statements)

References 40 publications

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“…In a previous study, it was shown that PWS subjects with deletion had increased BMI and fat mass when compared with subjects with the disomy. 21 In our patient group the differences in gut microbiota composition between patients with deletion and patients with disomy was correlated by difference in serum triglycerides, although the number of patients was low in the disomy group (n=5). This observation needs further examination in an extended group of subjects.…”

Section: Discussionmentioning

confidence: 62%

Gut microbiota of obese subjects with Prader-Willi syndrome is linked to metabolic health

Olsson

Poitou

Tremaroli

et al. 2019

Gut

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ObjectiveThe gut microbiota has been implicated in the aetiology of obesity and associated comorbidities. Patients with Prader-Willi syndrome (PWS) are obese but partly protected against insulin resistance. We hypothesised that the gut microbiota of PWS patients differs from that of non-genetically obese controls and correlate to metabolic health. Therefore, here we used PWS as a model to study the role of gut microbiota in the prevention of metabolic complications linked to obesity.DesignWe conducted a case-control study with 17 adult PWS patients and 17 obese subjects matched for body fat mass index, gender and age. The subjects were metabolically characterised and faecal microbiota was profiled by 16S ribosomal RNA gene sequencing. The patients’ parents were used as a non-obese control group. Stool samples from two PWS patients and two obese controls were used for faecal microbiota transplantations in germ-free mice to examine the impact of the microbiota on glucose metabolism.ResultsThe composition of the faecal microbiota in patients with PWS differed from that of obese controls, and was characterised by higher phylogenetic diversity and increased abundance of several taxa such as Akkermansia, Desulfovibrio and Archaea, and decreased abundance of Dorea. Microbial taxa prevalent in the PWS microbiota were associated with markers of insulin sensitivity. Improved insulin resistance of PWS was partly transmitted by faecal microbiota transplantations into germ-free mice.ConclusionThe gut microbiota of PWS patients is similar to that of their non-obese parents and might play a role for the protection of PWS patients from metabolic complications.

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Section: Discussionmentioning

confidence: 62%

Gut microbiota of obese subjects with Prader-Willi syndrome is linked to metabolic health

Olsson

Poitou

Tremaroli

et al. 2019

Gut

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“…Interestingly, our report showed that among deletion patients, peak levels of cortisol in response to ITT were significantly delayed compared to UPD patients. A number of studies have shown physical, intellectual, and behavioral differences among genetic subtypes of PWS, with more specific physical characteristics of PWS (typical face, hypopigmentation) in patients with deletion (Cassidy & Schwartz, ; Lin et al, ), while adults with deletion have a higher BMI, but the same proportion of fat mass (Coupaye et al, ). Concerning endocrine parameters, we have previously reported that secretion of GH was significantly lower in pediatric patients with mUPD than in patients with deletion (Oto et al,).…”

Section: Discussionmentioning

confidence: 99%

“…Concerning endocrine parameters, we have previously reported that secretion of GH was significantly lower in pediatric patients with mUPD than in patients with deletion (Oto et al,). The frequency of hypothyroidism was higher in patients with deletion than in those with mUPD (Coupaye et al, ). With respect to CAI in PWS, Corrias et al () reported that although both patients with deletion and patients with mUPD showed an overall normal mean peak cortisol level, patients with deletion exhibited poorer responses to low‐dose tetracosactrin stimulation test when compared to patients with mUPD.…”

Section: Discussionmentioning

confidence: 99%

Delayed peak response of cortisol to insulin tolerance test in patients with Prader–Willi syndrome

Oto

Matsubara

Ayabe

et al. 2018

American J of Med Genetics Pt A

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Deaths among children with Prader-Willi syndrome (PWS) are often related to only mild or moderate upper respiratory tract infections, and many causes of death remain unexplained. Several reports have hypothesized that patients with PWS may experience latent central adrenal insufficiency. However, whether PWS subjects suffer from alteration of the hypothalamus-pituitary-adrenal (HPA) axis remains unclear. This study aimed to explore the HPA axis on PWS. We evaluated the HPA axis in 36 PWS patients (24 males, 12 females; age range, 7 months to 12 years; median age 2.0 years; interquartile range [IQR], 1.5-3.4 years) using an insulin tolerance test (ITT) in the morning between 08:00 and 11:00. For comparison, ITT results in 37 age-matched healthy children evaluated for short stature were used as controls. In PWS patients, basal levels of adrenocorticotropic hormone (ACTH) were 13.5 pg/ml (IQR, 8.3-27.5 pg/ml) and basal levels of cortisol were 18.0 μg/dl (IQR, 14.2-23.7 μg/dl). For all patients, cortisol levels at 60 min after stimulation were within the reference range (>18.1 μg/dl), with a median peak of 41.5 μg/dl (IQR, 32.3-48.6 μg/dl). Among control children, basal level of ACTH and basal and peak levels of cortisol were 10.9 (IQR, 8.5-22.0 pg/ml), 15.6 (IQR, 11.9-21.6 μg/dl), and 27.8 μg/dl (IQR, 23.7-30.5 μg/dl), respectively. Basal and peak levels of cortisol were all within normal ranges, but peak response of cortisol to ITT was delayed in the majority of PWS patients (64%). Although the mechanism remains unclear, this delay may signify the existence of central obstacle in adjustment of the HPA axis.

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“…This agrees with our results: the ambiguity in voluntary productions could be the result of a difficulty in coordinating the mobilization of the AUs necessary to express an emotion. In addition, the muscle mass deficit is higher in people with mUPD [50]. These considerations should be taken into account during early psychomotor care.…”

Section: Discussionmentioning

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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Effect of Genotype and Previous GH Treatment on Adiposity in Adults With Prader-Willi Syndrome

Cited by 36 publications

References 40 publications

Gut microbiota of obese subjects with Prader-Willi syndrome is linked to metabolic health

Gut microbiota of obese subjects with Prader-Willi syndrome is linked to metabolic health

Delayed peak response of cortisol to insulin tolerance test in patients with Prader–Willi syndrome

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

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