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Prader-Willi syndrome

Roxann Diez Gross, Ronit Gisser, Gregory Cherpes, Katie Hartman, Rishi Maheshwary
Prader-Willi Syndrome (PWS) is caused by a genetic imprinting abnormality resulting from the lack of expression of the paternal genes at 15q11-q13. Intellectual disability, low muscle tone, and life-threatening hyperphagia are hallmarks of the phenotype. The need for the Heimlich maneuver, death from choking, and pulmonary infection occur in a disproportionally high number of persons with PWS. The widely held belief is that eating behaviors are responsible for choking and aspiration; yet, no investigation had sought to determine if swallowing impairments were present in persons with PWS...
October 19, 2016: American Journal of Medical Genetics. Part A
M R Giuca, R Inglese, S Caruso, R Gatto, G Marzo, M Pasini
OBJECTIVE: To investigate craniofacial characteristics in pediatric patients with Prader-Willi syndrome (PWS). SETTING AND SAMPLE POPULATION: A retrospective sample of 20 consecutive patients with PWS who had lateral and antero-posterior (AP) cephalograms (14 males and six females; average age 10.2 ± 3 years) was compared to 20 controls matched for age and sex (14 males and six females; average age 10.5 ± 3.7 years). MATERIALS AND METHODS: Cephalometric skeletal measurements were performed twice at a 1-week interval by one calibrated operator, and random error was calculated using Dahlberg's formula...
November 2016: Orthodontics & Craniofacial Research
Yllka Kodra, Loreta A Kondili, Alessia Ferraroni, Maria Antonietta Serra, Flavia Caretto, Maria Antonietta Ricci, Domenica Taruscio
INTRODUCTION: Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by severe hypotonia during the neonatal period and the first two years of life, the onset of hyperphagia with a risk of obesity during infancy and adulthood, learning difficulties and behavioral or severe psychiatric problems. This complex disease has severe consequences and difficult management issues also for patients' families. Parents of children with PWS need appropriate psychoeducational intervention in order to better manage their children with PWS...
July 2016: Annali Dell'Istituto Superiore di Sanità
R J Kuppens, N E Bakker, E P C Siemensma, S H Donze, T Stijnen, A C S Hokken-Koelega
CONTEXT: Patients with Prader-Willi syndrome (PWS) have an increased fat mass and decreased lean body mass. GH-treated young adults with PWS who have attained adult height benefit from continuation of growth hormone (GH) treatment, as GH maintained their improved body composition, whereas fat mass increased during the placebo period. Adults with PWS are predisposed to T2DM and CVD. Whether GH affects metabolic health profile of this patient group is unknown. OBJECTIVE: To investigate the effects of GH versus placebo on metabolic health, in young adults with PWS who were GH-treated for many years during childhood and had attained adult height (AH)...
September 30, 2016: Clinical Endocrinology
Marta Bueno, Susanna Esteba-Castillo, Ramon Novell, Olga Giménez-Palop, Ramon Coronas, Elisabeth Gabau, Raquel Corripio, Neus Baena, Marina Viñas-Jornet, Míriam Guitart, David Torrents-Rodas, Joan Deus, Jesús Pujol, Mercedes Rigla, Assumpta Caixàs
CONTEXT: Prader-Willi syndrome (PWS) is characterized by severe hyperphagia. Brain-derived neurotrophic factor (BDNF) and leptin are reciprocally involved in energy homeostasis. OBJECTIVES: To analyze the role of BDNF and leptin in satiety in genetic subtypes of PWS. DESIGN: Experimental study. SETTING: University hospital. SUBJECTS: 90 adults: 30 PWS patients; 30 age-sex-BMI-matched obese controls; and 30 age-sex-matched lean controls...
2016: PloS One
Lauren Schwartz, Anthony Holland, Elisabeth Dykens, Theresa Strong, Elizabeth Roof, Jessica Bohonowych
: This paper reports on the 'Prader-Willi Syndrome (PWS) Mental Health Research Strategy Workshop' that took place in March 2015. PWS is characterized by a complex phenotype affecting multiple systems with a high prevalence of maladaptive behaviours, and neuropsychiatric illness. Prader Willi syndrome results from the absence of paternally derived alleles located at the imprinted chromosomal locus, 15q11-13. The goal of the workshop was to highlight the state of the science of the mental health of people with this rare neurodevelopmental disorder...
September 29, 2016: Orphanet Journal of Rare Diseases
Pooja Palkar, Anahid Kabasakalian, Bonnie Taylor, Ellen Doernberg, Casara Jean Ferretti, Genoveva Uzunova, Eric Hollander
We report a 12-year-old male with Prader-Willi syndrome (PWS) and 47, XYY syndrome. Genetic work up revealed 47, XYY karyotype. PWS diagnosis was made by polymerase chain reaction methylation and maternal uniparental disomy (mUPD) was determined to be the etiology. Review of distinct behavioral features, possible interplay between the two syndromes and considerations for diagnoses are presented. To our knowledge, this is the first report of behavioral features in PWS with comorbid 47, XYY.
August 2016: Intractable & Rare Diseases Research
Glenda Lassi, Silvia Maggi, Edoardo Balzani, Ilaria Cosentini, Celina Garcia-Garcia, Valter Tucci
Abnormal feeding behavior is one of the main symptoms of Prader-Willi syndrome (PWS). By studying a PWS mouse mutant line, which carries a paternally inherited deletion of the small nucleolar RNA 116 (Snord116), we observed significant changes in working-for-food behavioral responses at various timescales. In particular, we report that PWS mutant mice show a significant delay compared to wild-type littermate controls in responding to both hour-scale and seconds-to-minutes- scale time intervals. This timing shift in mutant mice is associated with better performance in the working-for-food task and results in better decision making in these mutant mice...
September 26, 2016: Genetics
Muriel Coupaye, Maithé Tauber, Laurence Cuisset, Virginie Laurier, Eric Bieth, Jean-Marc Lacorte, Jean-Michel Oppert, Karine Clément, Christine Poitou
CONTEXT: Adults with Prader-Willi Syndrome (PWS) have an increased proportion of subcutaneous fat mass compared to BMI-matched controls, but whether the genotype influences body composition and metabolic profile remains controversial. OBJECTIVE: To assess body composition and metabolic features in adults with PWS, according to genetic subtype. In addition, the effect of previous growth hormone (GH) treatment was assessed. Main Outcomes and Measures: Body composition (DXA) and metabolic parameters were compared in PWS adults (mean age: 25...
September 23, 2016: Journal of Clinical Endocrinology and Metabolism
Maaz Hassan, Merlin G Butler
We report a 20 year follow up on a Caucasian female, now 26 years of age, with Prader-Willi syndrome (PWS) harboring an atypical 15q11-q13 submicroscopic deletion of 100-200 kb in size first detected in 1996 involving the imprinting center, SNRPN gene and surrounding region. PWS is a rare complex disorder caused by the loss of paternally expressed genes in the 15q11-q13 region. With high resolution chromosomal microarray and methylation - specific MLPA analysis, we updated the genetic findings on our patient and found a 209,819bp deletion including the SNURF-SNRPN gene complex which includes the imprinting center and the SNORD116 region...
September 19, 2016: European Journal of Medical Genetics
Costas Koufaris, Angelos Alexandrou, Ioannis Papaevripidou, Ioanna Alexandrou, Violetta Christophidou-Anastasiadou, Carolina Sismani
Prader-Willi syndrome is a rare syndrome characterized by hypotonia, developmental delay and excessive appetite. This syndrome is caused by the loss of function of paternally-expressed genes located in an imprinting centre in 15q11-q13. Here, we report the case of a patient who was referred to us with Prader-Willi syndrome-like symptoms including obesity and developmental delay. Examination of this patient revealed that he was a carrier of a paternally inherited deletion that affected the U1B and U1B* upstream exons of the SNURF-SNRNP gene within the 15q11-q13 imprinted region...
September 2016: Journal of Genetics
Qiu-Jiong Zhao, Shao-Cong Bai, Cheng Cheng, Ben-Zhang Tao, Le-Kai Wang, Shuang Liang, Ling Yin, Xing-Yi Hang, Ai-Jia Shang
Copy number variations have been found in patients with neural tube abnormalities. In this study, we performed genome-wide screening using high-resolution array-based comparative genomic hybridization in three children with tethered spinal cord syndrome and two healthy parents. Of eight copy number variations, four were non-polymorphic. These non-polymorphic copy number variations were associated with Angelman and Prader-Willi syndromes, and microcephaly. Gene function enrichment analysis revealed that COX8C, a gene associated with metabolic disorders of the nervous system, was located in the copy number variation region of Patient 1...
August 2016: Neural Regeneration Research
Natália D Linhares, Eugênia R Valadares, Silvia S da Costa, Rodrigo R Arantes, Luiz Roberto de Oliveira, Carla Rosenberg, Angela M Vianna-Morgante, Marta Svartman
We report on a 16-year-old boy with a maternally inherited ~ 18.3 Mb Xq13.2-q21.31 duplication delimited by aCGH. As previously described in patients with similar duplications, his clinical features included intellectual disability, developmental delay, speech delay, generalized hypotonia, infantile feeding difficulties, self-injurious behavior, short stature and endocrine problems. As additional findings, he presented recurrent seizures and pubertal gynecomastia. His mother was phenotypically normal and had completely skewed inactivation of the duplicated X chromosome, as most female carriers of such duplications...
September 2016: Meta Gene
Jorgen Thorup, Erik Clasen-Linde, Dina Cortes
Introduction Intratubular germ cell neoplasia (ITGCN) is a precursor to testicular germ cell cancer. Adult germ cell cancer immunohistochemical markers may fail to detect ITGCN in prepubertal boys with congenital cryptorchidism, because positive immunohistochemistry is commonly seen in boys younger than the age of 2 years, where most orchiopexies are performed. The aim of the study was to evaluate the diagnostic challenge to differentiate between a histological pattern of ITGCN and a histological pattern with some atypical germ cells and all positive cancer immunohistochemical markers, but no increased risk of malignancy...
September 8, 2016: European Journal of Pediatric Surgery
Satyakam Mohapatra, Udit Kumar Panda
Prader-Willi syndrome is a neurodevelopmental disorder characterized by mental retardation and distinct physical, behavioral, and psychiatric features. Maladaptive behaviours, cognitive impairment, and impediments in speech and language seriously affect the early development and long-term functioning of individuals affected by the illness. We present a case of a 9-year-old child with Prader-Willi syndrome whose behavioural symptoms were treated with low-dose antipsychotic medications.
April 25, 2016: Shanghai Archives of Psychiatry
Apurva Srivastava, Neena Srivastava, Balraj Mittal
Numerous classical genetic studies have proved that genes are contributory factors for obesity. Genes are directly responsible for obesity associated disorders such as Bardet-Biedl and Prader-Willi syndromes. However, both genes as well as environment are associated with obesity in the general population. Genetic epidemiological approaches, particularly genome-wide association studies, have unraveled many genes which play important roles in human obesity. Elucidation of their biological functions can be very useful for understanding pathobiology of obesity...
October 2016: Indian Journal of Clinical Biochemistry: IJCB
Laila C Schenkel, Charles Schwartz, Cindy Skinner, David Rodenhiser, Peter Ainsworth, Guillaume Pare, Bekim Sadikovic
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. It is most frequently caused by an abnormal expansion of the CGG trinucleotide repeat (>200 repeats) located in the promoter of the fragile X mental retardation gene (FMR1), resulting in promoter DNA hypermethylation and gene silencing. Current clinical tests for FXS are technically challenging and labor intensive, and may involve use of hazardous chemicals or radioisotopes. We clinically validated the Illumina Infinium HumanMethylation450 DNA methylation array for FXS screening...
August 29, 2016: Journal of Molecular Diagnostics: JMD
Andrea T Duran, Jared M Tucker, Kathleen S Wilson, Diobel M Castner, Daniela A Rubin
No abstract text is available yet for this article.
May 2016: Medicine and Science in Sports and Exercise
Ricky S Joshi, Paras Garg, Noah Zaitlen, Tuuli Lappalainen, Corey T Watson, Nidha Azam, Daniel Ho, Xin Li, Stylianos E Antonarakis, Han G Brunner, Karin Buiting, Sau Wai Cheung, Bradford Coffee, Thomas Eggermann, David Francis, Joep P Geraedts, Giorgio Gimelli, Samuel G Jacobson, Cedric Le Caignec, Nicole de Leeuw, Thomas Liehr, Deborah J Mackay, Stephen B Montgomery, Alistair T Pagnamenta, Peter Papenhausen, David O Robinson, Claudia Ruivenkamp, Charles Schwartz, Bernhard Steiner, David A Stevenson, Urvashi Surti, Thomas Wassink, Andrew J Sharp
Genomic imprinting is a mechanism in which gene expression varies depending on parental origin. Imprinting occurs through differential epigenetic marks on the two parental alleles, with most imprinted loci marked by the presence of differentially methylated regions (DMRs). To identify sites of parental epigenetic bias, here we have profiled DNA methylation patterns in a cohort of 57 individuals with uniparental disomy (UPD) for 19 different chromosomes, defining imprinted DMRs as sites where the maternal and paternal methylation levels diverge significantly from the biparental mean...
September 1, 2016: American Journal of Human Genetics
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