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Prader-Willi syndrome

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https://www.readbyqxmd.com/read/29032050/positive-predictive-value-estimates-for-cell-free-noninvasive-prenatal-screening-from-data-of-a-large-referral-genetic-diagnostic-laboratory
#1
Andrea K Petersen, Sau Wai Cheung, Janice L Smith, Weimin Bi, Patricia A Ward, Sandra Peacock, Alicia Braxton, Ignatia B van den Veyver, Amy M Breman
BACKGROUND: Since its debut in 2011, cell-free fetal DNA (cffDNA) screening has undergone rapid expansion with respect to both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this screening tool, both for the originally included common autosomal and sex-chromosomal aneuploidies as well as the more recently added chromosomal microdeletion syndromes, has lagged behind. Thus, there is a continued need to educate clinicians and patients about the current benefits and limitations of this screening tool to inform pre and post-test counseling, pre/perinatal decision making and medical risk assessment/management...
October 12, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29031747/sleep-phenotypes-in-infants-and-toddlers-with-neurogenetic-syndromes
#2
Emily A Abel, Bridgette L Tonnsen
BACKGROUND: Although sleep problems are well characterized in preschool- and school-age children with neurogenetic syndromes, little is known regarding the early emergence of these problems in infancy and toddlerhood. To inform syndrome-specific profiles and targets for intervention, we compared parent-reported sleep problems in infants and toddlers with Angelman syndrome (AS), Williams syndrome (WS), and Prader-Willi syndrome (PWS) with patterns observed among same-aged typically developing (TD) controls...
October 2017: Sleep Medicine
https://www.readbyqxmd.com/read/29022650/sleep-related-breathing-disorders-in-patients-with-prader-willi-syndrome-depending-on-the-period-of-growth-hormone-treatment
#3
Agnieszka Lecka-Ambroziak, Małgorzata Jędrzejczak, Marta Wysocka-Mincewicz, Mieczysław Szalecki
INTRODUCTION: Sleep-related breathing disorders (SRBD) are commonly present in patients with Prader-Willi syndrome (PWS). Recombinant human growth hormone (rhGH) treatment is reported to improve breathing function in PWS, but the findings are not explicit. MATERIAL AND METHODS: Screening polysomnography- polygraphy (PSG), assessing nasal respiratory flow, respiratory effort, and blood oxygen saturation, was used. Group 1 - before rhGH therapy (n = 11, mean age 3...
October 12, 2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28984907/prader-willi-syndrome-genetic-subtypes-and-clinical-neuropsychiatric-diagnoses-in-residential-care-adults
#4
Ann M Manzardo, Nicolette Weisensel, Sheryl Ayala, Waheeda Hossain, Merlin G Butler
The historical diagnosis of Prader-Willi syndrome (PWS), a complex genetic disorder, in adults by clinical presentation rather than genetic testing has limited genetic subtype-specific psychometric investigations and treatment. Genetic testing and clinical psychiatric evaluation using DSM-IV-TR criteria were undertaken on 72 adult residents (34M; 38F) from the Prader-Willi Homes of Oconomowoc (PWHO), a specialty PWS group home system. Methylation specific-multiplex ligation probe amplification and high-resolution microarrays were analyzed for methylation status, 15q11-q13 deletions and maternal uniparental disomy 15 (mUPD15)...
October 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28980100/brief-report-repetitive-behaviour-profiles-in-williams-syndrome-cross-syndrome-comparisons-with-prader-willi-and-down-syndromes
#5
R Royston, C Oliver, J Moss, D Adams, K Berg, C Burbidge, P Howlin, L Nelson, C Stinton, J Waite
This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome...
October 4, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28973544/loss-of-the-imprinted-non-coding-snord116-gene-cluster-in-the-interval-deleted-in-the-prader-willi-syndrome-results-in-murine-neuronal-and-endocrine-pancreatic-developmental-phenotypes
#6
Lisa Cole Burnett, Gabriela Hubner, Charles LeDuc, Michael V Morabito, Jayne F Martin Carli, Rudolph L Leibel
Global neurodevelopmental delay is a prominent characteristic of individuals with Prader-Willi syndrome (PWS). The neuromolecular bases for these delays are unknown. We identified neuroanatomical changes in the brains of mice deficient for a gene in the minimal critical deletion region for PWS (Snord116p-/m+). In Snord116p-/m+ mice, reduced primary forebrain neuron cell body size is apparent in embryonic day 15.5 fetuses, and persists until postnatal day 30 in cerebellar purkinje neurons. Snord116 is a snoRNA gene cluster of unknown function that can localize to the nucleolus...
September 6, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28973533/the-prader-willi-syndrome-proteins-magel2-and-necdin-regulate-leptin-receptor-cell-surface-abundance-through-ubiquitination-pathways
#7
Tishani Methsala Wijesuriya, Leentje De Ceuninck, Delphine Masschaele, Matthea R Sanderson, Karin Vanessa Carias, Jan Tavernier, Rachel Wevrick
In Prader-Willi syndrome (PWS), obesity is caused by the disruption of appetite-controlling pathways in the brain. Two PWS candidate genes encode MAGEL2 and necdin, related melanoma antigen proteins that assemble into ubiquitination complexes. Mice lacking Magel2 are obese and lack leptin sensitivity in hypothalamic pro-opiomelanocortin neurons, suggesting dysregulation of leptin receptor (LepR) activity. Hypothalamus from Magel2-null mice had less LepR and altered levels of ubiquitin pathway proteins that regulate LepR processing (Rnf41, Usp8, and Stam1)...
August 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28971315/prader-willi-syndrome-a-common-epigenetic-cause-of-syndromic-obesity
#8
REVIEW
Neerja Gupta, Vandana Jain
No abstract text is available yet for this article.
October 2, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28967604/-neonatal-presentation-of-prader-willi-syndrome-a-report-of-five-cases
#9
B Richard-De Ceaurriz, C Leymarie, A Godefroy, P Collignon, S Sigaudy, P Truc
Prader-Willi syndrome (PWS) is a fingerprint disease caused by the loss of paternally inherited chromosome 15q11.2-q13. In several populations studied, prevalence is estimated to be from 1/10,000 to 1/25,000 births. The disease initially manifests by neonatal hypotonia associated with orality disorders. Secondly, hyperphagia appears with significant obesity and hypogonadism. Motor milestones and language development are delayed, and all individuals have variable degrees of cognitive disability during childhood...
September 26, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28956320/oxytocin-and-prader-willi-syndrome
#10
Anahid Kabasakalian, Casara J Ferretti, Eric Hollander
In the chapter, we explore the relationship between the peptide hormone, oxytocin (OT), and behavioral and metabolic disturbances observed in the genetic disorder Prader-Willi Syndrome (PWS). Phenotypic and genotypic characteristics of PWS are described, as are the potential implications of an abnormal OT system with respect to neural development including the possible effects of OT dysfunction on interactions with other regulatory mediators, including neurotransmitters, neuromodulators, and hormones. The major behavioral characteristics are explored in the context of OT dysfunction, including hyperphagia, impulsivity, anxiety and emotion dysregulation, sensory processing and interoception, repetitive and restrictive behaviors, and dysfunctional social cognition...
September 28, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28938886/congenital-hypothyroidism-due-to-ectopic-sublingual-thyroid-gland-in-prader-willi-syndrome-a-case-report
#11
Sarah Bocchini, Danilo Fintini, Graziano Grugni, Arianna Boiani, Alessio Convertino, Antonino Crinò
BACKGROUND: Thyroid gland disorders are variably associated with Prader-Willi syndrome (PWS). Many of the clinical features in newborns with PWS are similar to those found in congenital hypothyroidism (CH). CASE PRESENTATION: We report a case of a girl with CH and PWS. At the age of 9 months CH caused by an ectopic sublingual thyroid was diagnosed, and hormone replacement therapy was started. In spite of this treatment a decrease in growth velocity, weight excess and delayed development were observed...
September 22, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28925810/ube3a-mediated-regulation-of-imprinted-genes-and-epigenome-wide-marks-in-human-neurons
#12
S Jesse Lopez, Keith Dunaway, M Saharul Islam, Charles Mordaunt, Annie Vogel Ciernia, Makiko Meguro-Horike, Shin-Ichi Horike, David J Segal, Janine LaSalle
The dysregulation of genes in neurodevelopmental disorders that lead to social and cognitive phenotypes is a complex, multilayered process involving both genetics and epigenetics. Parent-of-origin effects of deletion and duplication of the 15q11-q13 locus leading to Angelman, Prader-Willi, and Dup15q syndromes are due to imprinted genes, including UBE3A, which is maternally expressed exclusively in neurons. UBE3A encodes a ubiquitin E3 ligase protein with multiple downstream targets, including RING1B, which in turn monoubiquitinates histone variant H2A...
September 19, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/28895939/sleep-disorders-in-childhood-neurogenetic-disorders
#13
REVIEW
Laura Beth Mann Dosier, Bradley V Vaughn, Zheng Fan
enetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as "rare disease," but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, congenital central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne muscular dystrophy...
September 12, 2017: Children
https://www.readbyqxmd.com/read/28895429/effectiveness-of-adenotonsillectomy-and-risk-of-velopharyngeal-insufficiency-in-children-with-prader-willi-syndrome
#14
Reema Padia, Harlan Muntz, Kathleen Pfeffer, Jeremy Meier
OBJECTIVES: (1) Review effectiveness of adenotonsillectomy (T&A) for obstructive sleep apnea (OSA) in children with Prader-Willi syndrome (PW). (2) Examine the incidence of velopharyngeal insufficiency (VPI) after T&A in this population. (3) Compare outcomes of T&A in PW and Trisomy 21 (T21) patients. METHODS: Outcomes after T&A in a PW cohort were retrospectively reviewed and compared to those in patients with T21. RESULTS: The study cohort included 22 PW patients...
September 1, 2017: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/28857689/genomic-imprinting-is-implicated-in-the-psychology-of-music
#15
Samuel A Mehr, Jennifer Kotler, Rhea M Howard, David Haig, Max M Krasnow
Why do people sing to babies? Human infants are relatively altricial and need their parents' attention to survive. Infant-directed song may constitute a signal of that attention. In Prader-Willi syndrome (PWS), a rare disorder of genomic imprinting, genes from chromosome 15q11-q13 that are typically paternally expressed are unexpressed, which results in exaggeration of traits that reduce offspring's investment demands on the mother. PWS may thus be associated with a distinctive musical phenotype. We report unusual responses to music in people with PWS...
October 2017: Psychological Science
https://www.readbyqxmd.com/read/28854950/prevalence-and-risk-factors-for-type-2-diabetes-mellitus-with-prader-willi-syndrome-a-single-center-experience
#16
Aram Yang, Jinsup Kim, Sung Yoon Cho, Dong-Kyu Jin
BACKGROUND: Prader-Willi syndrome (PWS) is often related to severe obesity and type-2 diabetes mellitus (T2DM). However, few studies, and none in Korea, have examined prevalence of T2DM and other variables in PWS. The aim of this study was to identify the prevalence and associated risk factors for T2DM in Korean patients with PWS. METHODS: We performed a retrospective cohort study of the 84 PWS patients aged 10 or over (10.3-35.8 years of age) diagnosed with PWS at Samsung Medical Center from 1994 to 2016...
August 30, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28834083/microstructural-white-matter-tract-alteration-in-prader-willi-syndrome-a-diffusion-tensor-imaging-study
#17
Lauren J Rice, Jim Lagopoulos, Michael Brammer, Stewart L Einfeld
Prader-Willi Syndrome (PWS) is a genetic disorder characterized by infantile hypotonia, hyperphagia, hypogonadism, growth hormone deficiency, intellectual disability, and severe emotional and behavioral problems. The brain mechanisms that underpin these disturbances are unknown. Diffusion tensor imaging (DTI) enables in vivo investigation of the microstructural integrity of white matter pathways. To date, only one study has used DTI to examine white matter alterations in PWS. However, that study used selected regions of interest, rather than a whole brain analysis...
September 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28833838/syndrome-specific-modules-to-enhance-the-stepping-stones-triple-p-public-health-intervention
#18
L A Bezzina, L J Rice, P Howlin, B J Tonge, S L Einfeld
BACKGROUND: Service responses to behaviour phenotypes include care by expert clinicians, syndrome-specific clinics, disability-specific mental health services and generic mental health services. While these services contribute to care, they are often of limited accessibility. METHODS: We describe a population-wide public health intervention aimed at increasing the accessibility of services to the target population. Stepping Stones Triple P (SSTP) is a public health intervention of known efficacy in reducing behaviour problems when delivered to parents of children aged 0-12 with mixed developmental disabilities...
September 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28807811/clinical-validation-of-a-genome-wide-dna-methylation-assay-for-molecular-diagnosis-of-imprinting-disorders
#19
Erfan Aref-Eshghi, Laila C Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Victoria Siu, David Rodenhiser, Charles Schwartz, Bekim Sadikovic
Genomic imprinting involves a DNA methylation-dependent and parent-of-origin-specific regulation of gene expression. Clinical assays for imprinting disorders are genomic locus-, disorder-, and molecular defect-specific. We aimed to clinically validate a genome-wide approach for simultaneous testing of common imprinting disorders in a single assay. Using genome-wide DNA methylation arrays, epigenetic profiles from peripheral blood of patients with Angelman, Prader-Willi, Beckwith-Wiedemann, and Silver-Russell syndrome were compared to a reference cohort of 361 unaffected individuals...
August 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28746920/assessing-the-clinical-utility-of-snp-microarray-for-prader-willi-syndrome-due-to-uniparental-disomy
#20
Stephanie L Santoro, Sayaka Hashimoto, Aimee McKinney, Theresa Mihalic Mosher, Robert Pyatt, Shalini C Reshmi, Caroline Astbury, Scott E Hickey
Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ regarding the use of SNP microarray to detect PWS. We retrospectively examined the frequency with which SNP microarray could identify regions of homozygosity (ROH) in patients with PWS. We determined that 7/12 (58%) patients with previously confirmed PWS by methylation analysis and microsatellite-positive UPD studies had ROH (>10 Mb) by SNP microarray...
2017: Cytogenetic and Genome Research
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