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Effectiveness of Deep Brain Stimulation in Reducing Body Mass Index and Weight: A Systematic Review.Stereotactic and Functional Neurosurgery 2022Obesity has become a major public health concern worldwide, with current behavioral, pharmacological, and surgical treatments offering varying rates of success and...
BACKGROUND
Obesity has become a major public health concern worldwide, with current behavioral, pharmacological, and surgical treatments offering varying rates of success and adverse effects. Neurosurgical approaches to treatment of refractory obesity include deep brain stimulation (DBS) on either specific hypothalamic or reward circuitry nuclei, which might contribute to weight reduction through different mechanisms. We aimed to determine the safety and clinical effect of DBS in medical refractory obesity.
SUMMARY
Adhering to PRISMA guidelines, we performed a systematic review to identify all original studies - observational and experimental - in which DBS was performed to treat refractory obesity. From database inception to April 2021, we conducted our search in PubMed, Scopus, and LILACS databases using the following MeSH terms: "Obesity" OR "Prader-Willi Syndrome" AND "Deep Brain Stimulation." The main outcomes were safety and weight loss measured with the body mass index (BMI). The Grading of Recommendations Assessment, Development, and Evaluation methods were applied to evaluate the quality of evidence. This study protocol was registered with PROSPERO ID: CRD42019132929. Seven studies involving 12 patients met the inclusion criteria; the DBS target was the nucleus accumbens in four (57.1%), the lateral hypothalamic area in two (29.6%), and the ventral hypothalamus in one (14.3%). Further, 33% of participants had obesity secondary to Prader-Willi syndrome (PWS) and 66.6% had primary obesity. The global BMI average at baseline was 46.7 (SD: 9.6, range: 32.2-59.1), and after DBS, 42.8 (SD: 8.8, range: 25-53.9), with a mean difference of 3.9; however, the delta in PWS patients was -2.3 and 10 in those with primary obesity. The incidence of moderate side effects was 33% and included manic symptoms (N = 2), electrode fracture (N = 1), and seizure (N = 1); mild complications (41.6%) included skin infection (N = 2), difficulties falling asleep (N = 1), nausea (N = 1), and anxiety (N = 1).
KEY MESSAGES
Despite available small case series and case reports reporting a benefit in the treatment of refractory obesity with DBS, this study emphasizes the need for prospective studies with longer follow-ups in order to further address the efficacy and indications.
Topics: Body Mass Index; Deep Brain Stimulation; Humans; Nucleus Accumbens; Prospective Studies; Weight Loss
PubMed: 34583359
DOI: 10.1159/000519158 -
Tijdschrift Voor Psychiatrie 2021Prader-Willi syndrome (PWS) is a genetic syndrome characterized by dysmorphic features and endocrine, cognitive and psychiatric problems. Psychiatric problems interfere...
BACKGROUND
Prader-Willi syndrome (PWS) is a genetic syndrome characterized by dysmorphic features and endocrine, cognitive and psychiatric problems. Psychiatric problems interfere with the transition from pediatric to adult care. Psychiatric expertise is needed to facilitate this transition.
AIM
To provide a literature review on the prevalence and clinical presentation of psychiatric disorders in adults with PWS.
METHOD
A systematic literature review following the PRISMA-guidelines.
RESULTS
Thirty-three articles were included. Most adults with PWS had a specific behavioral profile with disruptive, autistic and compulsive characteristics. Psychotic symptoms occured in one third of adults with PWS, mostly in patients with maternal uniparental disomy. Mood disorders were present in 10 to 20% of adults with PWS and often accompanied by psychotic features. Studies were limited and heterogeneous in samples and methods.
CONCLUSION
There is a broad spectrum of psychiatric symptoms in adults with PWS. The clinical presentation does not fully fit within the DSM categories and shows differences between genetic subgroups. Longitudinal studies assessing the psychiatric symptoms with standardized methods are needed to improve practices on diagnosing, prevention, and treatment.
Topics: Adult; Child; Humans; Longitudinal Studies; Prader-Willi Syndrome; Psychotic Disorders; Transition to Adult Care
PubMed: 34231862
DOI: No ID Found -
Journal of Clinical Medicine Jun 2021Physical activity (PA) is an important aspect of the management of patients with Prader-Willi syndrome (PWS). However, the day-to-day implementation of PA programs is... (Review)
Review
Physical activity (PA) is an important aspect of the management of patients with Prader-Willi syndrome (PWS). However, the day-to-day implementation of PA programs is particularly challenging in these patients. This systematic review aimed (1) to describe habitual PA and sedentary behavior and (2) to assess the effects of PA interventions and to describe their implementation process, in children and adults with PWS. A systematic search of controlled trials, single-group interventions, observational, and qualitative studies published up to December 2020 was performed. Twenty-five studies were included. Habitual PA was found to be lower in patients with PWS compared to controls without obesity or with non-syndromic obesity. Habitual PA was positively associated with lean body mass and bone parameters in children with PWS, and these finding were strengthened by intervention studies reporting an increase in both outcomes after a PA program. PA programs also improved physical function (muscle strength, walking distance, and coordination), without significant effect on weight and fat mass. Attendance to exercise sessions was usually high and no serious adverse effect was reported. In conclusion, supervised PA programs are beneficial for children and adults with PWS. Support should be provided to families to facilitate their implementation in real-life settings.
PubMed: 34200339
DOI: 10.3390/jcm10112528 -
The Journal of Clinical Endocrinology... Sep 2021Features of Prader-Willi syndrome (PWS) overlap with features of growth hormone (GH) deficiency, like small hands and feet, short stature, increased body fat, and low... (Meta-Analysis)
Meta-Analysis
CONTEXT
Features of Prader-Willi syndrome (PWS) overlap with features of growth hormone (GH) deficiency, like small hands and feet, short stature, increased body fat, and low muscle mass and strength. In children with PWS, GH treatment (GHt) improves physical health and cognition. GHt has become the standard of care in PWS children, but in adults this is not yet the case.
OBJECTIVE
This work aims to provide an overview of the current knowledge on GHt in PWS adults.
METHODS
Medline, Embase, and the Cochrane Central Register of Controlled Trials databases were searched. Study selection included randomized clinical trials (RCTs) and nonrandomized (un)controlled trials (NRCTs) that reported data for adults with PWS, who received GHt for at least 6 months. Data on body composition, body mass index (BMI), cardiovascular end points, bone, cognitive function, quality of life, and safety were extracted.
RESULTS
Nine RCTs and 20 NRCTs were included. Body composition improved during 12 months of GHt with an increase in mean (95% CI) lean body mass of 1.95 kg (0.04 to 3.87 kg) and a reduction of mean (95% CI) fat mass of -2.23% (-4.10% to -0.36%). BMI, low-density lipoprotein cholesterol levels, fasting glucose levels, and bone mineral density did not change during GHt. There were no major safety issues.
CONCLUSION
GHt appears to be safe and improves body composition in adults with PWS. Because poor body composition is closely linked to the observed high incidence of cardiovascular morbidity in adults with PWS, improving body composition might reduce cardiovascular complications in this vulnerable patient group.
Topics: Adolescent; Adult; Body Composition; Body Mass Index; Female; Human Growth Hormone; Humans; Male; Middle Aged; Prader-Willi Syndrome; Quality of Life; Treatment Outcome; Young Adult
PubMed: 34105729
DOI: 10.1210/clinem/dgab406 -
Growth Hormone & IGF Research :... 2021We sought to obtain a better understanding of the burden of short stature using a systematic literature review.
OBJECTIVE
We sought to obtain a better understanding of the burden of short stature using a systematic literature review.
METHODS
Studies of the burden of short stature, of any cause in adults and children, were searched using Embase, MEDLINE and Cochrane databases in April 2020, capturing publications from 2008 onwards. Case series and populations with adult-onset growth hormone deficiency (GHD) were excluded.
RESULTS
Of 1684 publications identified, 41 studies (33 in children, 8 in adults) were included. All studies assessed human burden. Most study populations in children included short stature due to GHD, idiopathic short stature (ISS) and short stature after being born small for gestational age (SGA). In these populations, four studies showed that quality of life (QoL) in children with short stature was significantly worse than in children with normal stature. A significant association between QoL and short stature was observed in children with chronic kidney disease (CKD) (3 studies), achondroplasia (1 study) and transfusion-dependent β-thalassaemia (1 study), and in samples with mixed causes of short stature (3 studies). Three studies (one in GHD/ISS/SGA and two in CKD) found no significant association between short stature and QoL, and several studies did not report statistical significance. Approximately half of adult studies showed that QoL was reduced with short stature, and the other half showed no association. Two studies, one in adults with Prader-Willi syndrome and one in children with GHD, suggested a potential association between short stature and poorer cognitive outcomes. Three studies demonstrated an increased caregiver burden in parents of children with short stature.
CONCLUSIONS
Evidence suggests that, compared with those with normal stature, children and adults with short stature of any cause may experience poorer QoL. Further research could extend our understanding of the human burden in this field.
Topics: Achondroplasia; Adult; Body Height; Caregiver Burden; Child; Cost of Illness; Growth Disorders; Human Growth Hormone; Humans; Infant, Small for Gestational Age; Parents; Quality of Life; Renal Insufficiency, Chronic; beta-Thalassemia
PubMed: 33975197
DOI: 10.1016/j.ghir.2021.101392 -
BMJ Paediatrics Open 2020Growth hormone (GH) treatment is currently recommended in Prader-Willi syndrome (PWS) patients.
BACKGROUND
Growth hormone (GH) treatment is currently recommended in Prader-Willi syndrome (PWS) patients.
OBJECTIVES
To evaluate the impact (efficacy and safety) of the use of recombinant human GH (rhGH) as a treatment for PWS.
METHOD
We performed a systematic review and, where possible, meta-analysis for the following outcomes: growth, body mass index, body composition, cognitive function, quality of life, head circumference, motor development/strength, behaviour and adverse effects. We included all PWS patients, with all types of genetic defects and with or without GH deficiency, who participated in rhGH studies performed in infancy, childhood and adolescence, that were either randomised controlled trials (RCTs) (double-blinded or not) or non-randomised controlled trials (NRCTs) (cohort and before and after studies). The databases used were MEDLINE, Embase and Cochrane Central.
RESULTS
In 16 RCTs and 20 NRCTs selected, the treated group had an improvement in height (1.67 SD scores (SDS); 1.54 to 1.81); body mass index z-scores (-0.67 SDS; -0.87 to -0.47) and fat mass proportion (-6.5% SDS; -8.46 to -4.54) compared with the control group. Data about cognition could not be aggregated. Based on high quality evidence, rhGH treatment favoured an improvement of stature, body composition and body mass index, modifying the disease's natural history; rhGH treatment may also be implicated in improved cognition and motor development in PWS patients at a young age.
ETHICS AND DISSEMINATION
The current review was approved by the ethical committee of our institution. The results will be disseminated through conference presentations and publications in peer-reviewed journals.
PROSPERO REGISTRATION NUMBER
CRD42019140295.
PubMed: 32411831
DOI: 10.1136/bmjpo-2019-000630 -
Clinical Genetics Dec 2019Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). We present five patients...
Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). We present five patients with mutations in MAGEL2, including the first patient reported with a missense variant, adding to the limited literature. Further, we performed a systematic review of the CHS and SYS literature, assess the overlap between CHS, SYS and PWS, and analyze genotype-phenotype correlations among them. We conclude that there is neither a clinical nor etiological difference between CHS and SYS, and propose that the two syndromes simply be referred to as MAGEL2-related disorders.
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Cluster Analysis; DNA Mutational Analysis; Female; Humans; Infant; Infant, Newborn; Male; Mutation; Proteins; Young Adult
PubMed: 31397880
DOI: 10.1111/cge.13620 -
Journal of Assisted Reproduction and... Jun 2018To determine whether a history of conception by assisted reproductive technology (ART) is associated with occurrence of one or more imprinting disorders of either... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
To determine whether a history of conception by assisted reproductive technology (ART) is associated with occurrence of one or more imprinting disorders of either maternal or paternal origin.
METHODS
We implemented a systematic review of scholarly literature followed by comprehensive meta-analysis to quantitatively synthesize data from reports relating to use of ART to occurrence of any imprinting disorder of humans, including Beckwith-Wiedemann (BWS), Angelman (AS), Prader-Willi (PWS), and Silver-Russell (SRS) syndromes, as well as transient neonatal diabetes mellitus (TNDB) and sporadic retinoblasoma (RB).
RESULTS
The systematic review identified 13 reports presenting unique data from 23 studies that related conception following ART to occurrence of imprinting disorders. Multiple studies of four disorder were identified, for which meta-analysis yielded the following summary estimates of associations with a history of ART: AS, summary odds ratio (sOR) = 4.7 (95% confidence interval (CI) 2.6-8.5, 4 studies); BWS, sOR = 5.8 (95% CI 3.1-11.1, 8 studies); PWS, sOR = 2.2 (95% CI 1.6-3.0, 6 studies); SRS, sOR = 11.3 (95% CI 4.5-28.5, 3 studies). Only one study reported on each of TNDB and RB.
CONCLUSION
Published data reveal positive associations between history of ART conception and each of four imprinting disorders. Reasons for these associations warrant further investigation.
Topics: Chromosome Disorders; Female; Fertilization; Genomic Imprinting; Humans; Reproductive Techniques, Assisted; Risk Factors
PubMed: 29696471
DOI: 10.1007/s10815-018-1173-x -
Advances in Nutrition (Bethesda, Md.) Nov 2017Prader-Willi syndrome (PWS) is a rare genetic disorder associated with excessive weight gain. Hyperphagia associated with PWS may result in higher energy intake, but... (Review)
Review
Prader-Willi syndrome (PWS) is a rare genetic disorder associated with excessive weight gain. Hyperphagia associated with PWS may result in higher energy intake, but alterations in energy expenditure may also contribute to energy imbalance. The purpose of this critical literature review is to determine the presence of alterations in energy expenditure in individuals with PWS. Ten studies that measured total energy expenditure (TEE), resting energy expenditure (REE), sleep energy expenditure (SEE), activity energy expenditure (AEE), and diet induced thermogenesis (DIT) were included in this review. The studies provided evidence that absolute TEE, REE, SEE, and AEE are lower in individuals with PWS than in age-, sex-, and body mass index-matched individuals without the syndrome. Alterations in lean body mass and lower physical activity amounts appear to be responsible for the lower energy expenditure in PWS rather than metabolic differences. Regardless of the underlying mechanism for lower TEE, the estimation of energy requirements with the use of equations derived for the general population would result in weight gain in individuals with PWS. The determination of energy requirements for weight management in individuals with PWS requires a more comprehensive understanding of energy metabolism. Future studies should aim to comprehensively profile all specific components of energy expenditure in individuals with PWS with the use of appropriately matched controls and gold standard methods to measure energy metabolism and body composition. One component of energy expenditure that is yet to be explored in detail in PWS is DIT. A reduced DIT (despite differences in fat free mass), secondary to hormonal dysregulation, may be present in PWS individuals, leading to a reduced overall energy expenditure. Further research exploring DIT in PWS needs to be conducted. Dietary energy recommendations for weight management in PWS have not yet been clearly established.
Topics: Body Mass Index; Diet; Energy Intake; Energy Metabolism; Humans; Prader-Willi Syndrome; Rest; Thermogenesis
PubMed: 29141973
DOI: 10.3945/an.117.016253 -
Medicina Oral, Patologia Oral Y Cirugia... Sep 2016Rare diseases (RD) are those that present a lower prevalence than 5 cases per 10.000 population. The main objective of this review was to study the effect on oral health... (Review)
Review
BACKGROUND
Rare diseases (RD) are those that present a lower prevalence than 5 cases per 10.000 population. The main objective of this review was to study the effect on oral health in rare diseases, while the secondary objective of the study is theme upgrade.
MATERIAL AND METHODS
Comparative observational case-control studies were analysed and a systematic review was conducted in PubMed. Each rare disease listed on the statistical data record of the Health Portal of the Ministry of Equality, Health and Social Policies Board of Andalusia was associated with "oral health". The variables studied included dental, oral mucosa and occlusion alterations, oral pathologies (caries, periodontal disease) and other alterations (mouth breathing, parafunctional habits, etc). A bias analysis of the variable caries was conducted.
RESULTS
Six RD were selected through our inclusion and exclusion criteria (hypogammaglobulinemia, Rett syndrome, Marfan syndrome, Prader-Willi syndrome, cystic fibrosis and Cri du chat syndrome) in a total of 8 publications, of which four trials were classified as high risk of bias and one of them as medium risk. There were not trials with low risk of bias.
CONCLUSIONS
The main statistically significant differences found by Syndrome compared to a control group were in Hypogammaglobulinemia with a greater tendency to enamel hypoplasia and dry mouth. The Rett syndrome had, as well, a greater tendency to an anterior open bite, ogival palate, bruxism, mouth breathing and tongue thrusting. Prader-Willi syndrome had a tendency of dental erosion, and Cri du chat syndrome showed a higher association to Tannerella forsythia.
Topics: Bruxism; Cri-du-Chat Syndrome; Dental Caries; Humans; Oral Health; Rare Diseases
PubMed: 27475682
DOI: 10.4317/medoral.20972