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https://www.readbyqxmd.com/read/29774207/overview-of-social-cognitive-dysfunctions-in-rare-developmental-syndromes-with-psychiatric-phenotype
#1
REVIEW
Aurore Morel, Elodie Peyroux, Arnaud Leleu, Emilie Favre, Nicolas Franck, Caroline Demily
Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29750570/orthognathic-correction-in-prader-willi-syndrome-occlusion-and-sleep-restored
#2
Keliang Kevin Xiao, Shikhar Tomur, Robert Beckerman, Kevin Cassidy, Michael Lypka
Children with Prader-Willi Syndrome (PWS) may present with a malocclusion and have a high propensity of developing obstructive sleep apnea (OSA). Obstructive sleep apnea is associated with short- and long-term adverse effects that negatively impact children with PWS. A case of a 15-year-old male with PWS, OSA, and a debilitating malocclusion is presented who underwent a combination of Le Fort 1 osteotomy, genioplasty, and tongue reduction to successfully treat his OSA and malocclusion. In select cases, orthognathic correction and other surgical therapies should be considered in patients with PWS...
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29730598/molecular-genetic-classification-in-prader-willi-syndrome-a-multisite-cohort-study
#3
Merlin G Butler, Samantha N Hartin, Waheeda A Hossain, Ann M Manzardo, Virginia Kimonis, Elisabeth Dykens, June Anne Gold, Soo-Jeong Kim, Nicolette Weisensel, Roy Tamura, Jennifer L Miller, Daniel J Driscoll
BACKGROUND: Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the frequency and further characterises the PWS molecular classes and maternal age effects. METHODS: High-resolution microarrays, comprehensive chromosome 15 genotyping and methylation-specific multiplex ligation probe amplification were used to describe and further characterise molecular classes of maternal disomy 15 (UPD15) considering maternal age...
May 5, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29717432/classifying-dysmorphic-syndromes-by-using-artificial-neural-network-based-hierarchical-decision-tree
#4
Merve Erkınay Özdemir, Ziya Telatar, Osman Eroğul, Yusuf Tunca
Dysmorphic syndromes have different facial malformations. These malformations are significant to an early diagnosis of dysmorphic syndromes and contain distinctive information for face recognition. In this study we define the certain features of each syndrome by considering facial malformations and classify Fragile X, Hurler, Prader Willi, Down, Wolf Hirschhorn syndromes and healthy groups automatically. The reference points are marked on the face images and ratios between the points' distances are taken into consideration as features...
May 1, 2018: Australasian Physical & Engineering Sciences in Medicine
https://www.readbyqxmd.com/read/29703235/the-effects-of-bifidobacterium-animalis-ssp-lactis-b94-on-gastrointestinal-wellness-in-adults-with-prader-willi-syndrome-study-protocol-for-a-randomized-controlled-trial
#5
Zainab Alyousif, Jennifer L Miller, Mariana Y Sandoval, Chad W MacPherson, Varuni Nagulesapillai, Wendy J Dahl
BACKGROUND: Constipation is a frequent problem in adults with Prader-Willi syndrome. Certain probiotics have been shown to improve transit and gastrointestinal symptoms of adults with functional constipation. The aim of this study is to determine the effect of daily consumption of Bifidobacterium animalis ssp. lactis B94 (B. lactis B94) on stool frequency, stool form, and gastrointestinal symptoms in adults with Prader-Willi syndrome. METHODS: Adults with Prader-Willi syndrome (18-75 years old, n = 36) will be recruited and enrolled in a 20-week, randomized, double-blind, placebo-controlled, crossover study...
April 27, 2018: Trials
https://www.readbyqxmd.com/read/29700824/clinical-molecular-genetics-and-therapeutic-aspects-of-syndromic-obesity
#6
REVIEW
E Geets, M E C Meuwissen, W Van Hul
Obesity has become a major health problem worldwide. To date, more than 25 different syndromic forms of obesity are known in which one (monogenic) or multiple (polygenic) genes are involved. This review gives an overview of these forms and focuses more in detail on six syndromes: Prader Willi Syndrome and Prader Willi like phenotype, Bardet Biedl Syndrome, Alström Syndrome, Wilms tumor, Aniridia, Genitourinary malformations and mental Retardation syndrome and 16p11.2 (micro)deletions. Years of research provided plenty of information on the molecular genetics of these disorders and the obesity phenotype leading to a more individualized treatment of the symptoms, however, a lot of questions still remain unanswered...
April 26, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29696788/delayed-peak-response-of-cortisol-to-insulin-tolerance-test-in-patients-with-prader-willi-syndrome
#7
Yuji Oto, Keiko Matsubara, Tadayuki Ayabe, Masahisa Shiraishi, Nobuyuki Murakami, Hiroshi Ihara, Tomoyo Matsubara, Toshiro Nagai
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...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29696774/functional-independence-of-taiwanese-children-with-prader-willi-syndrome
#8
Chung-Lin Lee, Hsiang-Yu Lin, Li-Ping Tsai, Huei-Ching Chiu, Ru-Yi Tu, You-Hsin Huang, Yin-Hsiu Chien, Ni-Chung Lee, Dau-Ming Niu, Mei-Chyn Chao, Fuu-Jen Tsai, Yen-Yin Chou, Chih-Kuang Chuang, Shuan-Pei Lin
Prader-Willi syndrome (PWS) is a genetic disorder with obesity, developmental delay, short stature, and behavioral abnormalities. The study aimed to assess the functional independence in children with PWS. The Functional Independence Measure for Children (WeeFIM) was used to evaluate 81 children with PWS (44 boys and 37 girls) with a median age of 11 years 1 month (range 2 years 8 months to 20 years 2 months) were recruited between January 2013 and December 2016. The mean total WeeFIM score was 103.8 (maximum 126)...
April 25, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29696471/comprehensive-meta-analysis-reveals-association-between-multiple-imprinting-disorders-and-conception-by-assisted-reproductive-technology
#9
REVIEW
Victoria K Cortessis, Moosa Azadian, James Buxbaum, Fatimata Sanogo, Ashley Y Song, Intira Sriprasert, Pengxiao C Wei, Jing Yu, Karine Chung, Kimberly D Siegmund
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)...
April 25, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29691480/an-estimation-of-the-prevalence-of-genomic-disorders-using-chromosomal-microarray-data
#10
Madelyn A Gillentine, Philip J Lupo, Pawel Stankiewicz, Christian P Schaaf
Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic disorders has not been estimated accurately. A subset of genomic disorders similarly characterized by CNVs between LCRs have been studied epidemiologically, including Williams-Beuren syndrome (7q11...
April 24, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29691382/snord116-dependent-diurnal-rhythm-of-dna-methylation-in-mouse-cortex
#11
Rochelle L Coulson, Dag H Yasui, Keith W Dunaway, Benjamin I Laufer, Annie Vogel Ciernia, Yihui Zhu, Charles E Mordaunt, Theresa S Totah, Janine M LaSalle
Rhythmic oscillations of physiological processes depend on integrating the circadian clock and diurnal environment. DNA methylation is epigenetically responsive to daily rhythms, as a subset of CpG dinucleotides in brain exhibit diurnal rhythmic methylation. Here, we show a major genetic effect on rhythmic methylation in a mouse Snord116 deletion model of the imprinted disorder Prader-Willi syndrome (PWS). More than 23,000 diurnally rhythmic CpGs are identified in wild-type cortex, with nearly all lost or phase-shifted in PWS...
April 24, 2018: Nature Communications
https://www.readbyqxmd.com/read/29687155/takayasu-arteritis-in-childhood-misdiagnoses-at-disease-onset-and-associated-diseases
#12
Gleice Clemente, Clovis A Silva, Silvana B Sacchetti, Virginia P L Ferriani, Sheila K Oliveira, Flavio Sztajnbok, Blanca E R G Bica, André Cavalcanti, Teresa Robazzi, Marcia Bandeira, Maria Teresa Terreri
Juvenile-Takayasu arteritis (j-TA) is a difficult diagnosis and some patients develop uncommon manifestations and associated diseases that may contribute to the delayed diagnosis. Our aim was to identify the misdiagnoses, the associated diseases and the atypical manifestations observed in a j-TA Brazilian multicentre study. 71 children and adolescents who met the classification criteria for j-TA were included. The misdiagnoses, the associated diseases and the atypical manifestations were evaluated. 19 (26.8%) patients had misdiagnoses...
April 23, 2018: Rheumatology International
https://www.readbyqxmd.com/read/29685165/gastro-oesophageal-reflux-an-important-causative-factor-of-severe-tooth-wear-in-prader-willi-syndrome
#13
Ronnaug Saeves, Finn Strøm, Leiv Sandvik, Hilde Nordgarden
BACKGROUND: Prader-Willi syndrome (PWS) is the most common genetic human obesity syndrome and is characterized by hypotonia, endocrine disturbances, hyperphagia, obesity and mild mental retardation. Oral abnormalities, such as decreased salivary flow rates and extreme tooth wear, have also been described. Studies have shown a significant increase in reflux symptoms in individuals with obstuctive sleep apnoea syndrome and increased BMI, both of which are typical findings in PWS. Gastro-oesophageal reflux disease (GORD) has been identified in some individuals with PWS and is a significant intrinsic factor in dental tooth wear...
April 23, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29681103/comparison-of-perinatal-factors-in-deletion-versus-uniparental-disomy-in-prader-willi-syndrome
#14
June-Anne Gold, Ranim Mahmoud, Suzanne B Cassidy, Virginia Kimonis
Prader-Willi syndrome (PWS) is caused by a deficiency of imprinted genes in the 15q11-q13 region and is characterized by prenatal onset of hypotonia, poor feeding, childhood-onset obesity, hyperphagia, short stature, facial dysmorphism, intellectual disability, and behavioral problems. We studied perinatal factors in a cohort of 64 people with PWS resulting from paternal deletion of 15q11-q13 and maternal uniparental disomy (UPD) for chromosome 15. We recruited 34 individuals with deletion and 30 with UPD. We compared the frequency of multiple prenatal and neonatal factors with the general population as well as between the two genetic subtypes...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29673244/changes-in-body-composition-blood-lipid-profile-and-growth-factor-hormone-in-a-patient-with-prader-willi-syndrome-during-24-weeks-of-complex-exercise-a-single-case-study
#15
Hee Joung Joung, In Soo Lim
PURPOSE: Prader-Willi syndrome (PWS) is a genetic disorder characterized by excessive appetite with progressive obesity and growth hormone (GH) deficiency. Excessive eating causes progressive obesity with increased risk of morbidities and mortality. Although GH treatment has beneficial effects on patients with PWS, adverse events have occurred during GH treatment. Exercise potentially has a positive effect on obesity management. The purpose of this research was to examine the effects of 24-week complex exercise program on changes in body composition, blood lipid profiles, and growth factor hormone levels in a patient with PWS...
March 30, 2018: Journal of Exercise Nutrition & Biochemistry
https://www.readbyqxmd.com/read/29668472/obesity-in-childhood-and-adolescence-genetic-factors
#16
Marko Kostovski, Velibor Tasic, Nevena Laban, Momir Polenakovic, Dragan Danilovski, Zoran Gucev
Obesity and excess weight are a pandemic phenomenon in the modern world. Childhood and adolescent obesity often ends up in obesity in adults. The costs of obesity and its consequences are staggering for any society, crippling for countries in development. Childhood obesity is also widespread in Macedonia. Metabolic syndrome, dyslipidemia and carbohydrate intolerance are found in significant numbers. Parents and grandparents are often obese. Some of the children are either dysmorphic, or slightly retarded. We have already described patients with Prader-Willi syndrome, Bardet-Biedl syndrome or WAGR syndrome...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29666169/impact-of-transitional-care-on-endocrine-and-anthropometric-parameters-in-prader-willi-syndrome
#17
Anne-Cécile Paepegaey, Muriel Coupaye, Asma Jaziri, Florence Menesguen, Béatrice Dubern, Michel Polak, Jean-Michel Oppert, Maithe Tauber, Graziella Pinto, Christine Poitou
CONTEXT: The transition of patients with Prader-Willi syndrome (PWS) to adult life for medical care is challenging because of multiple comorbidities, including hormone deficiencies, obesity, and cognitive and behavioral disabilities. OBJECTIVE: To assess endocrine management, and metabolic and anthropometric parameters of PWS adults who received (n=31) or not (n=64) transitional care, defined as specialized pediatric care followed by a structured care pathway to a multidisciplinary adult team...
April 17, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29643790/a-case-of-fundus-oculi-albinoticus-diagnosed-as-angelman-syndrome-by-genetic-testing
#18
Yurie Fukiyama, Masahiro Tonari, Junko Matsuo, Hidehiro Oku, Jun Sugasawa, Shuichi Shimakawa, Tohru Ogihara, Nobuhiko Okamoto, Tsunehiko Ikeda
Purpose: To report a case of fundus oculi albinoticus diagnosed as Angelman syndrome (AS) via genetic testing. Case Report: This study reports on a 4-year-old boy. Since he had been having respiratory disturbance since birth, he underwent a complete physical examination to investigate the cause. The results indicated that he had various brain congenital abnormalities, such as a thin corpus callosum, as well as hydronephrosis, an atrial septal defect, and skin similar to patients with fundus oculi albinoticus...
January 2018: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/29619043/first-case-report-of-prader-willi-like-syndrome-in-colombia
#19
Estephania Candelo, Max M Feinstein, Diana Ramirez-Montaño, Juan F Gomez, Harry Pachajoa
Background: Prader-Willi-like syndrome (PWLS) is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11-q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndrome has been described in patients with 1p, 2p, 3p, 6q, and 9q chromosome abnormalities and in cases with maternal uniparental disomy of chromosome 14 and fragile X syndrome...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29590610/a-transcriptomic-signature-of-the-hypothalamic-response-to-fasting-and-bdnf-deficiency-in-prader-willi-syndrome
#20
Elena G Bochukova, Katherine Lawler, Sophie Croizier, Julia M Keogh, Nisha Patel, Garth Strohbehn, Kitty K Lo, Jack Humphrey, Anita Hokken-Koelega, Layla Damen, Stephany Donze, Sebastien G Bouret, Vincent Plagnol, I Sadaf Farooqi
Transcriptional analysis of brain tissue from people with molecularly defined causes of obesity may highlight disease mechanisms and therapeutic targets. We performed RNA sequencing of hypothalamus from individuals with Prader-Willi syndrome (PWS), a genetic obesity syndrome characterized by severe hyperphagia. We found that upregulated genes overlap with the transcriptome of mouse Agrp neurons that signal hunger, while downregulated genes overlap with the expression profile of Pomc neurons activated by feeding...
March 27, 2018: Cell Reports
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