Defining Mental and Behavioural Disorders in Genetically Determined Neurodevelopmental Syndromes with Particular Reference to Prader-Willi Syndrome

Holland, Anthony; Aman, Lucie; Whittington, Joyce

doi:10.3390/genes10121025

Cited by 25 publications

(15 citation statements)

References 54 publications

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“…Given that the risk for severe mental health problems is higher in subjects with maternal disomy than in those with deletions [ 7 ], we performed an exploratory analysis to compare the effects of BPL1 supplementation between both genotypes. We observed no differences at baseline between subjects with deletions ( n = 11) and disomies ( n = 9) ( Table S5 ).…”

Section: Resultsmentioning

confidence: 99%

“…Anxiety, depression, and autism spectrum disorders–like symptoms (including impaired social interactions and repetitive and compulsive behavior) are common in older children with PWS and constitute a major burden for patients and families [ 5 , 6 , 46 ]. Subjects with maternal disomy are at higher risk than those with deletions for severe behavior and mental health alterations, including mood and psychotic disorders [ 7 ]. Notably, BPL1-induced improvements in behavior mostly appear in participants with disomy, while participants with deletion showed marginal changes in test scores.…”

Section: Discussionmentioning

confidence: 99%

“…Patients present hypotonia, feeding difficulties, and failure to thrive during the first months of life, and then transition toward increased appetite, interest in food, and excessive adiposity at approximately 4.5 years of age. Later on, they typically develop hyperphagia, morbid obesity if uncontrolled, and mental health problems, including anxiety and social problems [ 5 , 6 ], with patients with maternal disomy at higher risk for more severe problems [ 7 ]. While current therapies have improved health outcomes during the last decade [ 8 ], obesity and mental health problems continue to be an enormous burden for patients and families.…”

Section: Introductionmentioning

confidence: 99%

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Effects of Bifidobacterium animalis Subsp. lactis (BPL1) Supplementation in Children and Adolescents with Prader–Willi Syndrome: A Randomized Crossover Trial

et al. 2020

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Prader–Willi syndrome (PWS) is a rare genetic disorder characterized by a wide range of clinical manifestations, including obesity, hyperphagia, and behavioral problems. Bifidobacterium animalis subsp. lactis strain BPL1 has been shown to improve central adiposity in adults with simple obesity. To evaluate BPL1′s effects in children with PWS, we performed a randomized crossover trial among 39 patients (mean age 10.4 years). Participants were randomized to placebo–BPL1 (n = 19) or BPL1–placebo (n = 20) sequences and underwent a 12-week period with placebo/BPL1 treatments, a 12-week washout period, and a 12-week period with the crossover treatment. Thirty-five subjects completed the study. The main outcome was changes in adiposity, measured by dual-energy X-ray absorptiometry. Secondary outcomes included lipid and glucose metabolism, hyperphagia, and mental health symptoms. Generalized linear modeling was applied to assess differences between treatments. While BPL1 did not modify total fat mass compared to placebo, BPL1 decreased abdominal adiposity in a subgroup of patients older than 4.5 years (n = 28). BPL1 improved fasting insulin concentration and insulin sensitivity. Furthermore, we observed modest improvements in some mental health symptoms. A follow-up trial with a longer treatment period is warranted to determine whether BPL1 supplementation can provide a long-term therapeutic approach for children with PWS (ClinicalTrials.gov NCT03548480).

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Effects of Bifidobacterium animalis Subsp. lactis (BPL1) Supplementation in Children and Adolescents with Prader–Willi Syndrome: A Randomized Crossover Trial

et al. 2020

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“…Different psychopathological and behavioral problems in different samples of children and adult patients with PWS have been described [ 10 , 11 , 12 , 13 , 14 , 15 ]. The main psychiatric comorbidities are affective disorders, psychosis, obsessive-compulsive disorder, and autism spectrum disorder.…”

Section: Introductionmentioning

confidence: 99%

Multidimensional Evaluation of Awareness in Prader-Willi Syndrome

Gómez

Coronas

Pousa

et al. 2021

JCM

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There are no studies about insight or awareness of illness in patients with Prader-Willi Syndrome (PWS). The objective of this study was to explore the level of awareness of the disorder, of the need for medication, and of the social consequences of the disease, as well as of its main symptoms in PWS. We also aimed to explore relationships between awareness and sociodemographic and clinical characteristics, and to compare all data with a matched sample of patients with psychosis. Insight was assessed by an Adapted version of the Scale of Unawareness of Mental Disorder in a cross-sectional pilot study at a University Hospital. Thirty-six individuals with PWS (58.3% women) were included. Results showed that PWS patients had a good awareness of the illness and of the effects of medication, in contrast to a lack of awareness of illness’ social consequences. Awareness of obesity/overweight was excellent, as was the awareness of excessive appetite. Awareness of excessive food intake was only mild. Insight correlated with age and functionality, but not with BMI. PWS patients showed a better insight into the illness but a similar awareness of the effects of the medication and of the social consequences of the disease as compared to schizophrenia-spectrum patients. This profile of insight may have relevant clinical implications.

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“…Early diagnosis can lead to early treatment with growth and other hormones and approaches to further reduce the risk of obesity- associated comorbidities as an outcome. Holland et al [ 6 ] further defined mental and behavioral disturbances that occur in genetically determined neurodevelopmental syndromes such as PWS and generated a model that brings together diagnostic–psychologic developmental approaches with the aim of matching specific behaviors and their neural mechanisms focused on PWS.…”

mentioning

confidence: 99%