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Edward Syndrome or Trisomy 18 in children

Daniel Satgé, Motoi Nishi, Nicolas Sirvent, Michel Vekemans
Constitutional trisomy 18 causes Edwards syndrome, which is characterized by intellectual disability and a particular set of malformations. Although this condition carries high mortality during prenatal and early postnatal life, some of the rare infants who survive the first months develop benign and malignant tumors. To determine the tumor profile associated with Edwards syndrome, we performed a systematic review of the literature. This review reveals a tumor profile differing from those of Down (trisomy 21) and Patau (trisomy 13) syndromes...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Adam P Jacobs, Akila Subramaniam, Ying Tang, Joseph B Philips, Joseph R Biggio, Rodney K Edwards, Nathaniel H Robin
We conducted a survey-based study of the opinions, attitudes, and management practices of neonatologists across the United States regarding prenatally diagnosed Trisomy 18. The survey was designed based on previously validated surveys of severe fetal anomalies and collected demographic information on participants, as well as their attitudes, and management choices given a series of vignettes beginning in the prenatal period. The survey was sent to 3,143 American Academy of Pediatrics Section on Neonatal-Perinatal Medicine members of which 409 (13%) completed the survey...
October 2016: American Journal of Medical Genetics. Part A
Alexander J Millman, Lyn Finelli, Anna M Bramley, Georgina Peacock, Derek J Williams, Sandra R Arnold, Carlos G Grijalva, Evan J Anderson, Jonathan A McCullers, Krow Ampofo, Andrew T Pavia, Kathryn M Edwards, Seema Jain
OBJECTIVE: To describe and compare the clinical characteristics, outcomes, and etiology of pneumonia among children hospitalized with community-acquired pneumonia (CAP) with neurologic disorders, non-neurologic underlying conditions, and no underlying conditions. STUDY DESIGN: Children <18 years old hospitalized with clinical and radiographic CAP were enrolled at 3 US children's hospitals. Neurologic disorders included cerebral palsy, developmental delay, Down syndrome, epilepsy, non-Down syndrome chromosomal abnormalities, and spinal cord abnormalities...
June 2016: Journal of Pediatrics
Jeffrey P Jacobs, Sean M O'Brien, Sara K Pasquali, J William Gaynor, John E Mayer, Tara Karamlou, Karl F Welke, Giovanni Filardo, Jane M Han, Sunghee Kim, James A Quintessenza, Christian Pizarro, Christo I Tchervenkov, Francois Lacour-Gayet, Constantine Mavroudis, Carl L Backer, Erle H Austin, Charles D Fraser, James S Tweddell, Richard A Jonas, Fred H Edwards, Frederick L Grover, Richard L Prager, David M Shahian, Marshall L Jacobs
BACKGROUND: The empirically derived 2014 Society of Thoracic Surgeons Congenital Heart Surgery Database Mortality Risk Model incorporates adjustment for procedure type and patient-specific factors. The purpose of this report is to describe this model and its application in the assessment of variation in outcomes across centers. METHODS: All index cardiac operations in The Society of Thoracic Surgeons Congenital Heart Surgery Database (January 1, 2010, to December 31, 2013) were eligible for inclusion...
September 2015: Annals of Thoracic Surgery
Albert Beckers, Maya Beth Lodish, Giampaolo Trivellin, Liliya Rostomyan, Misu Lee, Fabio R Faucz, Bo Yuan, Catherine S Choong, Jean-Hubert Caberg, Elisa Verrua, Luciana Ansaneli Naves, Tim D Cheetham, Jacques Young, Philippe A Lysy, Patrick Petrossians, Andrew Cotterill, Nalini Samir Shah, Daniel Metzger, Emilie Castermans, Maria Rosaria Ambrosio, Chiara Villa, Natalia Strebkova, Nadia Mazerkina, Stéphan Gaillard, Gustavo Barcelos Barra, Luis Augusto Casulari, Sebastian J Neggers, Roberto Salvatori, Marie-Lise Jaffrain-Rea, Margaret Zacharin, Beatriz Lecumberri Santamaria, Sabina Zacharieva, Ee Mun Lim, Giovanna Mantovani, Maria Chaira Zatelli, Michael T Collins, Jean-François Bonneville, Martha Quezado, Prashant Chittiboina, Edward H Oldfield, Vincent Bours, Pengfei Liu, Wouter W de Herder, Natalia Pellegata, James R Lupski, Adrian F Daly, Constantine A Stratakis
X-linked acrogigantism (X-LAG) is a new syndrome of pituitary gigantism, caused by microduplications on chromosome Xq26.3, encompassing the gene GPR101, which is highly upregulated in pituitary tumors. We conducted this study to explore the clinical, radiological, and hormonal phenotype and responses to therapy in patients with X-LAG syndrome. The study included 18 patients (13 sporadic) with X-LAG and microduplication of chromosome Xq26.3. All sporadic cases had unique duplications and the inheritance pattern in two families was dominant, with all Xq26...
June 2015: Endocrine-related Cancer
Edward H Hurley, Sankaran Krishnan, Lance A Parton, Allen J Dozor
Differences in perspective between physicians caring for children with trisomy 18 may be confusing and stressful for parents. The hypothesis of this study was that neonatologists and pediatric pulmonologists differ in their opinions regarding long-term prognosis and recommended interventions. Neonatologists and pediatric pulmonologists in New York State were surveyed. Respondents were asked to report their personal experience caring for affected children, opinions on prognosis, major influences on their opinions, and their likelihood of recommending specific medical or surgical interventions for two clinical vignettes...
October 2014: American Journal of Medical Genetics. Part A
Jennifer N Kucera, Ian Coley, Sara O'Hara, Edward J Kosnik, Brian D Coley
BACKGROUND: Although spinal cord tethering is known to be associated with certain clinical syndromes and cutaneous stigmata, its incidence in healthy infants with simple sacral dimples has not been thoroughly evaluated. OBJECTIVE: Our objective was to determine the frequency of tethered cord in otherwise healthy patients with simple sacral dimples. MATERIALS AND METHODS: We reviewed the lumbar spine US reports of all healthy neonates referred for a simple sacral dimple during a 12-year period at two children's hospitals...
February 2015: Pediatric Radiology
Marta Moraleda-Cibrián, Mary Berger, Sean P Edwards, Steven J Kasten, Steven R Buchman, Louise M O'Brien
STUDY OBJECTIVE: Sleep-disordered breathing (SDB) and speech difficulties are common problems in children with craniofacial malformations (CFM). The present study was designed to investigate whether resonance issues identified during speech assessment are associated with parental report of SDB symptoms in children with CFM. METHODS: Children aged 2-18 years with congenital CFM attending at the Craniofacial Anomalies Program from March 2007 to April 2011 were screened for SDB symptoms using the Sleep-Related Breathing Disturbance Scale of the Pediatric Sleep Questionnaire...
June 15, 2014: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
Elena Ţarcă, Petru Plămădeală, Bogdan Savu
Trisomy 18 or Edwards syndrome is a rare chromosomal anomaly, associated with mild to severe intellectual disabilities and multiple congenital anomalies. Trisomies 18 and 13 are lethal, only 5-10% of patients surviving the first year of life. Although prenatal biological and ultrasound investigations are mandatory and free and the detection rate of chromosomal abnormalities is high, the birth of children with no real chance at a normal life being thus avoided by therapeutic abortion, the parents of the here presented child did not benefit from medical examination or prenatal tests, unfortunately the case of many families in Romania...
2014: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
Marta Moraleda-Cibrián, Sean P Edwards, Steven J Kasten, Mary Berger, Steven R Buchman, Louise M O'Brien
STUDY OBJECTIVE: The purpose of this study was to investigate the frequency of sleep disordered breathing (SDB) symptoms in a clinical sample of children with congenital craniofacial malformations (CFM) followed at a tertiary medical center and non-selected for sleep problems. METHODS: Cross-sectional study of 575 children aged 2-18 years followed at the Craniofacial Anomalies Program between March 2007 and May 2011. The Sleep-Related Breathing Disturbance scale of the Pediatric Sleep Questionnaire was used to screen for SDB, snoring, and sleepiness...
March 15, 2014: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
Jianhua Wu, Anna Springett, Joan K Morris
The aim of this study is to determine the survival of live births with trisomy 18 and trisomy 13 and their variants. Information on live births with trisomy 18 or trisomy 13 recorded in the National Down Syndrome Cytogenetic Register (NDSCR) was linked by the NHS Information Centre to obtain information about survival. Survival was known for 326 (88%) of live births with trisomy 18 and 142 (82%) of live births with trisomy 13 born in England and Wales between 2004 and 2011. The median survival time for live births with full trisomy 18 was 14 days and with full trisomy 13 was 10 days, the 3-month survival was 20% and 18%, respectively, and the 1-year survival for both syndromes was 8%...
October 2013: American Journal of Medical Genetics. Part A
Douglas F Willson, Neal J Thomas, Robert Tamburro, Edward Truemper, Jonathon Truwit, Mark Conaway, Christine Traul, Edmund E Egan
RATIONALE: Our previous studies in children with acute lung injury/acute respiratory distress syndrome demonstrated improved outcomes with exogenous surfactant (calfactant) administration. Sample sizes in those studies were small, however, and the subject populations heterogeneous, thus making recommendations tenuous. OBJECTIVE: To investigate the efficacy of surfactant administration in a larger, more homogenous population of children with lung injury/acute respiratory distress syndrome due to direct lung injury...
September 2013: Pediatric Critical Care Medicine
Rafael Fabiano Machado Rosa, Patrícia Trevisan, Rosana Cardoso Manique Rosa, Marina Boff Lorenzen, Paulo Ricardo Gazzola Zen, Ceres Andréia Oliveira, Carla Graziadio, Giorgio Adriano Paskulin
BACKGROUND: Trisomy 18 or Edwards syndrome is a chromosomal abnormality characterized by a broad clinical picture and a limited survival. More than 130 different abnormalities have been described in these patients-among them are neural tube defects. METHODS: We verified the frequency and types of major neural tube defects observed among patients with trisomy 18. Our sample consisted of consecutive patients evaluated by a clinical genetics service of a referral hospital in southern Brazil between 1975 and 2008...
September 2013: Pediatric Neurology
Dario J Englot, Jonathan D Breshears, Peter P Sun, Edward F Chang, Kurtis I Auguste
While temporal lobe epilepsy (TLE) is the most common epilepsy syndrome in adults, seizures in children are more often extratemporal in origin. Extra-temporal lobe epilepsy (ETLE) in pediatric patients is often medically refractory, leading to significantly diminished quality of life. Seizure outcomes after resective surgery for pediatric ETLE vary tremendously in the literature, given diverse patient and epilepsy characteristics and small sample sizes. The authors performed a systematic review and meta-analysis of studies including 10 or more pediatric patients (age ≤ 19 years) published over the last 20 years examining seizure outcomes after resective surgery for ETLE, excluding hemispherectomy...
August 2013: Journal of Neurosurgery. Pediatrics
Eleanor C Hancock, John P Osborne, Stuart W Edwards
BACKGROUND: Infantile spasms (West's Syndrome) is a syndrome that includes a peculiar type of epileptic seizure-the spasms-and an electroencephalographic (EEG) abnormality often called hypsarrhythmia. Psychomotor retardation is frequently found at follow-up. Approximately two-thirds of affected infants will have a detectable underlying neurological abnormality, but still little is known about the pathophysiological basis for infantile spasms, and treatment remains problematic. OBJECTIVES: To compare the effects of single pharmaceutical therapies used to treat infantile spasms in terms of control of the spasms, resolution of the EEG, relapse rates, psychomotor development, subsequent epilepsy, side effects, and mortality...
2013: Cochrane Database of Systematic Reviews
Liset Olarte, Krow Ampofo, Chris Stockmann, Edward O Mason, Judy A Daly, Andrew T Pavia, Carrie L Byington
BACKGROUND: Introduction of the heptavalent pneumococcal conjugate vaccine (PCV7) changed the epidemiology of invasive pneumococcal disease (IPD). We evaluated the changes that occurred after PCV7 introduction among Utah infants aged 1 to 90 days, too young to be fully immunized. METHODS: We identified children <18 years with culture-confirmed IPD from 1997-2010. We analyzed demographic, clinical, and serotype data for infants aged 1-90 days. The pre- and post-vaccine introduction periods spanned 1997-2000 and 2001-2010, respectively...
July 2013: Pediatrics
Christa Hutaff-Lee, Lisa Cordeiro, Nicole Tartaglia
This chapter describes the physical characteristics, medical complications, and cognitive and psychological profiles that are associated with chromosomal aneuploidy conditions, a group of conditions in which individuals are born with one or more additional chromosome. Overall, chromosomal aneuploidy conditions occur in approximately 1 in 250 children. Information regarding autosomal disorders including trisomy 21 (Down syndrome), trisomy 13 (Patau syndrome), and trisomy 18 (Edward syndrome) are presented. Sex chromosome aneuploidy conditions such as Klinefelter syndrome (47,XXY), XYY, trisomy X, and Turner syndrome (45,X), in addition to less frequently occurring tetrasomy and pentasomy conditions are also covered...
2013: Handbook of Clinical Neurology
McKenzie Koss, R Michael Scott, Mira B Irons, Edward R Smith, Nicole J Ullrich
OBJECT: Children with neurofibromatosis Type 1 (NF1) can present with progressive arteriopathy of the branches of the internal carotid artery consistent with moyamoya syndrome. Clinical symptoms, radiographic evidence of ischemia, and the potential for disease progression may necessitate surgical revascularization to minimize the risk of stroke and progressive neurological deficits. This study aims to evaluate the presentation and surgical outcomes of these patients by reviewing clinical, radiographic, and angiographic data...
April 2013: Journal of Neurosurgery. Pediatrics
Stephanie A Goldstein, Edward J Hoffenberg
BACKGROUND AND AIMS: We reviewed our institution's experience with Peutz-Jegher syndrome (PJS) in children to determine whether current recommendations on timing of screening and follow-up should be modified. METHODS: We reviewed the charts of all of the children with a diagnosis of PJS at our institution from 2000 to 2011 abstracting data on intussusceptions events, polyp characteristics, Sertoli cell (SC) tumors, family history, imaging, and interventions. RESULTS: Of 14 children identified, 10 were boys...
February 2013: Journal of Pediatric Gastroenterology and Nutrition
Anna Cereda, John C Carey
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age...
2012: Orphanet Journal of Rare Diseases
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