Article
Genetics & Heredity
Ting Wu, Jiao Chen
Summary: This study demonstrates the possibility of identifying the specific facial features of Cornelia de Lange syndrome (CdLS) in the early second trimester through ultrasound imaging.
PRENATAL DIAGNOSIS
(2022)
Review
Medicine, General & Internal
Anca Maria Panaitescu, Simona Duta, Nicolae Gica, Radu Botezatu, Florina Nedelea, Gheorghe Peltecu, Alina Veduta
Summary: Cornelia de Lange syndrome is caused by pathogenic variants in genes related to the cohesin complex, leading to a range of clinical manifestations. Prenatal ultrasound plays a crucial role in diagnosing the syndrome, and clear diagnostic criteria have been established for management. The collaboration between fetal medicine specialists and geneticists is essential in the prenatal management of this condition.
Article
Pediatrics
Vikas S. Gupta, Amir M. Khan, Ashley H. Ebanks, Pamela A. Lally, Kevin P. Lally, Matthew T. Harting
Summary: Cornelia de Lange syndrome (CdLS) is associated with congenital diaphragmatic hernia (CDH), resulting in poorer outcomes for CdLS patients. However, those with CdLS who undergo repair can survive to discharge. A significant proportion of CdLS patients do not undergo diaphragmatic repair, leading to higher mortality rates.
JOURNAL OF PEDIATRIC SURGERY
(2021)
Review
Neurosciences
Ilaria Parenti, Frank J. Kaiser
Summary: Chromatinopathies are neurodevelopmental disorders caused by mutations in proteins responsible for chromatin remodeling and transcriptional regulation, resulting in dysregulation of gene expression and clinical features such as developmental delay and intellectual disability. CdLS is a typical example, primarily caused by mutations in cohesin complex subunits or regulators, but also by variants in non-cohesin genes with similar functions.
FRONTIERS IN NEUROSCIENCE
(2021)
Article
Biotechnology & Applied Microbiology
Rie Seyama, Yuri Uchiyama, Jose Ricard Magliocco Ceroni, Veronica Eun Hue Kim, Isabel Furquim, Rachel Sayuri Honjo, Matheus Augusto Araujo Castro, Lucas Vieira Lacerda Pires, Hiromi Aoi, Kazuhiro Iwama, Kohei Hamanaka, Atsushi Fujita, Naomi Tsuchida, Eriko Koshimizu, Kazuharu Misawa, Satoko Miyatake, Takeshi Mizuguchi, Shintaro Makino, Atsuo Itakura, Debora R. Bertola, Chong Ae Kim, Naomichi Matsumoto
Summary: Recent studies have found significant overlap in transcript isoforms between brain tissue and Epstein-Barr virus-transformed lymphoblastoid cell lines (LCLs). Highly expressed cohesion-related genes in both brain and LCLs are associated with Cornelia de Lange Syndrome (CdLS). RNA sequencing of LCLs proved to be useful in identifying hidden variants in exome-negative cases, as several new pathogenic variants were identified using this method.
Article
Multidisciplinary Sciences
Melanie Panarotto, Iain F. Davidson, Gabriele Litos, Alexander Schleiffer, Jan-Michael Peters
Summary: Cornelia de Lange syndrome (CdLS) is a developmental multisystem disorder associated with NIPBL gene mutations. The study shows that NIPBL mutations impair the DNA loop extrusion activity of cohesin, which affects the interactions between developmental genes and their enhancers, potentially contributing to the etiology of CdLS.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Review
Clinical Neurology
Ludovica Giani, Giovanni Michelini, Maria Nobile, Paola Francesca Ajmone, Paola Giovanna Vizziello, Simona Scaini
Summary: The social impairments in individuals with Cornelia de Lange Syndrome (CdLS) are mainly characterized by social anxiety, which differs from those observed in idiopathic autism. This systematic review examines the relationship between social anxiety and CdLS through cross-sectional comparisons, highlighting the importance of considering the nature of social demand and familiarity of the examiner in understanding social anxiety in CdLS individuals.
JOURNAL OF AFFECTIVE DISORDERS
(2022)
Article
Endocrinology & Metabolism
Yiding Shen, Dongyan Zhao, Long Sun, Xiuzhen Yang, Xiang Yan
Summary: Cornelia de Lange syndrome (CdLS) is a rare genetic disease with limited information on female genital abnormalities. Timely identification and treatment of genital abnormalities in female CdLS patients are crucial for symptom improvement, reducing complications, and controlling recurrent infections.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Genetics & Heredity
Ying Peng, Changbiao Liang, Hui Xi, Shuting Yang, Jiancheng Hu, Jialun Pang, Jing Liu, Yingchun Luo, Chengyuan Tang, Wanqin Xie, Hua Wang
Summary: Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. This study presented clinical and genetic findings of three CdLS cases from separate Chinese families, showing associations between mutations in the NIPBL gene and CdLS.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
M. J. Pablo, P. Pamplona, M. Haddad, I Benavente, A. Latorre-Pellicer, M. Arnedo, L. Trujillano, G. Bueno-Lozano, L. M. Kerr, S. A. Huisman, F. J. Kaiser, F. Ramos, A. D. Kline, J. Pie, B. Puisac
Summary: This study found that autonomic nervous system dysfunction is present in many individuals with Cornelia de Lange Syndrome, which may be related to premature aging.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Review
Psychiatry
Laura Groves, Chris Oliver, Joanna Moss
Summary: Recent studies have found varying presentations of the behavioural phenotype of CdLS across the lifespan, with autistic characteristics and behaviors related to compromised mental health being more common and severe in older individuals. Further research is needed to thoroughly document the behavioral phenotype of CdLS patients and consider multiple factors that may influence negative outcomes.
CURRENT OPINION IN PSYCHIATRY
(2021)
Article
Chemistry, Multidisciplinary
Angel Matute-Llorente, Angela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, Elena Llorente, Juan Jose Puente-Lanzarote, Ariadna Ayerza-Casas, Maria Arnedo, Luis A. Moreno, Feliciano Ramos, Juan Pie, Jose A. Casajus, Gloria Bueno-Lozano
Summary: This study evaluated bone health and body composition in individuals with Cornelia de Lange Syndrome using dual-energy X-ray absorptiometry. Most of the CdLS patients had potentially causative genetic variants in NIPBL based on deep sequencing. While bone health seemed less of a concern during childhood and adolescence, some individuals were at risk for impaired bone health in adulthood. Monitoring of calcium, phosphorus, vitamin D levels, and other biomarkers can help assess bone health in this population.
APPLIED SCIENCES-BASEL
(2021)
Article
Genetics & Heredity
Fengchang Qiao, Cuiping Zhang, Yan Wang, Gang Liu, Binbin Shao, Ping Hu, Zhengfeng Xu
Summary: Cornelia de Lange syndrome is a genetically heterogeneous disorder with NIPBL gene variants accounting for a significant portion of cases. A new de novo synonymous variant in the NIPBL gene was identified through whole-exome sequencing, expanding the mutation spectrum and highlighting the crucial role of WES in identifying genetic variants. The study also underscores the importance of considering synonymous mutations as potential pathogenic variants in clinical diagnoses.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Catia Mio, Nadia Passon, Federico Fogolari, Claudia Cesario, Antonio Novelli, Carla Pittini, Giuseppe Damante
Summary: A novel Thr119Arg mutation in HDAC8 was identified in a 2-year-old female child, leading to a diagnosis of non-classic CdLS. This mutation was classified as pathogenic and was found to have deleterious effects on the structure and function of the HDAC8 protein.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Psychology, Developmental
Siddharth Srivastava, Bennett Clark, Colleen Landy-Schmitt, Elizabeth A. Offermann, Antonie D. Kline, Samuel T. Wilkinson, Marco A. Grados
Summary: This study evaluated children with Cornelia de Lange syndrome and found that a majority of them exhibited repetitive and self-injurious behaviors, which had a negative impact on their adaptive functioning.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2021)
Article
Medicine, General & Internal
Mads Damkjaer, Stine Kjaer Urhoj, Joachim Tan, Gillian Briggs, Maria Loane, Joanne Emma Given, Laia Barrachina-Bonet, Clara Cavero-Carbonell, Alessio Coi, Amanda J. Neville, Anna Heino, Sonja Kiuru-Kuhlefelt, Susan Jordan, Ieuan Scanlon, Anna Pierini, Aurora Puccini, Ester Garne, Joan K. Morris
Summary: Advancements in surgical management have reduced fatality from congenital heart defects. Children with severe CHD are more likely to be prescribed cardiovascular medication in their first year of life, with prescription rates decreasing with age for all anomaly groups.
Article
Cardiac & Cardiovascular Systems
Hafi Saad, Frank Casey, Helen Dolk, Maria Loane
Summary: Congenital heart defects (CHD) have a high prevalence in Northern Ireland, with approximately 12.48 cases of major CHD per 1,000 live births. Among the diagnosed cases, 16.02% have genetic or chromosomal disorders, while the prevalence of non-genetic or chromosomal cases remains stable.
CARDIOLOGY IN THE YOUNG
(2022)
Article
Genetics & Heredity
Jorieke E. H. Bergman, Ingeborg Barisic, Marie-Claude Addor, Paula Braz, Clara Cavero-Carbonell, Elizabeth S. Draper, Luis J. Echevarria-Gonzalez-de-Garibay, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsoyr, Jennifer J. Kurinczuk, Anna Latos-Bielenska, Karen Luyt, Danielle Martin, Carmel Mullaney, Vera Nelen, Amanda J. Neville, Mary T. O'Mahony, Isabelle Perthus, Anna Pierini, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Florence Rouget, Gerardine Sayers, Bruno Schaub, Sarah Stevens, David Tucker, Christine Verellen-Dumoulin, Awi Wiesel, Erica H. Gerkes, Annie Perraud, Maria A. Loane, Diana Wellesley, Hermien E. K. de Walle
Summary: This study investigated the prevalence of ABS and LBWC in Europe from 1980 to 2019 and found a low prevalence with a decreasing trend in the 1980s. Limb anomalies and neural tube defects were commonly observed in ABS, while abdominal and thoracic wall defects and limb anomalies were most prevalent in LBWC. Twinning was confirmed as a risk factor for both ABS and LBWC.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Geriatrics & Gerontology
Miguel Peralta, Carlos Matias Dias, Adilson Marques, Duarte Henriques-Neto, Mafalda Sousa-Uva
Summary: This study investigated the relationship between grip strength and the diagnosis of heart diseases in European middle-aged and older adults. The results showed an inverse association between grip strength and the incidence of heart diseases, suggesting that grip strength could be an important indicator in cardiovascular risk assessment.
EXPERIMENTAL GERONTOLOGY
(2023)
Article
Multidisciplinary Sciences
Clara Calvert, Jade Carruthers, Cheryl Denny, Jack Donaghy, Lisa E. M. Hopcroft, Leanne Hopkins, Anna Goulding, Laura Lindsay, Terry McLaughlin, Emily Moore, Bob Taylor, Maria Loane, Helen Dolk, Joan Morris, Bonnie Auyeung, Krishnan Bhaskaran, Cheryl L. Gibbons, Srinivasa Vittal Katikireddi, Maureen O'Leary, David McAllister, Ting Shi, Colin R. Simpson, Chris Robertson, Aziz Sheikh, Sarah J. Stock, Rachael Wood
Summary: This study using electronic health records from Scotland found no increased risk of congenital anomalies associated with COVID-19 vaccination or SARS-CoV-2 infection during early pregnancy.
NATURE COMMUNICATIONS
(2023)
Article
Developmental Biology
Ester Garne, Stine Kjaer Urhoj, Marian Bakker, Mika Gissler, Joanne Given, Anna Heino, Elisabeth Limb, Maria Loane, Hermien de Walle, Joan Morris
Summary: This study evaluated the quality and accuracy of codes identifying termination of pregnancy for fetal anomalies (TOPFA) cases in hospital databases. The results showed that hospital databases have limited information or codes to accurately identify specific anomalies in TOPFA cases, but can be used to identify the occurrence of a TOPFA and obtain more detailed information from medical records.
BIRTH DEFECTS RESEARCH
(2023)
Article
Pediatrics
Ester Garne, Maria Loane, Joachim Tan, Elisa Ballardini, Joanna Brigden, Clara Cavero-Carbonell, Alessio Coi, Mads Damkjaer, Laura Garcia-Villodre, Mika Gissler, Joanne Given, Anna Heino, Sue Jordan, Elizabeth Limb, Amanda Neville, Anke Rissmann, Michele Santoro, Ieuan Scanlon, Stine Kjaer Urhoj, Diana Wellesley, Joan Morris
Summary: This study conducted a record-linkage study in several regions to investigate the burden of surgery for children with congenital anomalies. It found that 38% of these children underwent surgery in their first year, with regional differences observed. On average, these children had 2 surgical procedures before the age of 5, with those with esophageal atresia requiring the highest number of procedures. Furthermore, there was no consensus among European countries regarding the preferred age for surgery for certain anomalies.
Article
Pediatrics
Svetlana Glinianaia, Judith Rankin, Joachim Tan, Maria Loane, Ester Garne, Clara Cavero-Carbonell, Hermien E. K. de Walle, Miriam Gatt, Mika Gissler, Kari Klungsoyr, Natalie Lelong, Amanda Neville, Anna Pierini, David F. Tucker, Stine Kjaer Urhoj, Diana Gay Wellesley, Joan K. Morris
Summary: This study investigated the 10-year survival rate of children with trisomy 13 (T13) and trisomy 18 (T18) born between 1995 and 2014. The study found that despite high neonatal mortality, 32% of T13 children and 21% of T18 children who survived to 4 weeks were likely to survive to age 10.
ARCHIVES OF DISEASE IN CHILDHOOD
(2023)
Article
Public, Environmental & Occupational Health
Marian K. Bakker, Maria Loane, Ester Garne, Elisa Ballardini, Clara Cavero-Carbonell, Laura Garcia, Mika Gissler, Joanne Given, Anna Heino, Anna Jamry-Dziurla, Sue Jordan, Stine Kjaer Urhoj, Anna Latos-Bielenska, Elisabeth Limb, Renee Lutke, Amanda J. Neville, Anna Pierini, Michele Santoro, Ieuan Scanlon, Joachim Tan, Diana Wellesley, Hermien E. K. de Walle, Joan K. Morris
Summary: Electronic health care databases are increasingly used to investigate the epidemiology of congenital anomalies (CAs), but concerns about their accuracy remain. The EUROlinkCAT project compared the coding of CAs in electronic hospital databases to the codes in EUROCAT registries. The study found that hospital databases had high accuracy for certain CAs, but incomplete and variable validity for others. This highlights the importance of CA registries as the most appropriate data source for studying the epidemiology of CAs.
EUROPEAN JOURNAL OF EPIDEMIOLOGY
(2023)
Review
Medicine, General & Internal
Astha Anand, Katherine Phillips, Anuradhaa Subramanian, Siang Ing Lee, Zhaonan Wang, Rebecca McCowan, Utkarsh Agrawal, Adeniyi Frances Fagbamigbe, Catherine Nelson-Piercy, Peter Brocklehurst, Christine Damase-Michel, Maria Loane, Krishnarajah Nirantharakumar, Amaya Azcoaga-Lorenzo
Summary: The objective of this review is to investigate the prevalence of polypharmacy among pregnant women and its association with maternal and offspring outcomes. The study found a high proportion of women being prescribed two or more medications during pregnancy, but there is a lack of reporting on multimorbidity and the impact of polypharmacy on pregnancy and offspring outcomes.
Article
Psychology, Developmental
Jennifer Larsen, Puja Kochhar, Dieter Wolke, Elizabeth S. Draper, Neil Marlow, Samantha Johnson
Summary: This study investigates whether the behavioral outcomes of extremely preterm (EP) children have changed over time with increasing survival rates. It compares the behavioral outcomes at age 11 for two national cohorts of EP children born in 1995 (EPICure) and 2006 (EPICure2), along with term-born children. The results show that EP children have higher mean scores and more clinically significant difficulties compared to term-born children in almost all measures. Furthermore, the behavioral outcomes for EP children born in 2006 are worse than those born in 1995. Long-term clinical follow-up and psychological support are needed for EP children.
EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
(2023)
Article
Multidisciplinary Sciences
Maria Loane, Joanne E. Given, Joachim Tan, Ingeborg Barisic, Laia Barrachina-Bonet, Clara Cavero-Carbonell, Alessio Coi, James Densem, Ester Garne, Mika Gissler, Anna Heino, Sue Jordan, Renee Lutke, Amanda J. Neville, Ljubica Odak, Aurora Puccini, Michele Santoro, Ieuan Scanlon, Stine K. Urhoj, Hermien E. K. de Walle, Diana Wellesley, Joan K. Morris, Tamirat Getachew
Summary: Linking routinely collected healthcare administrative data is valuable for researching morbidity outcomes. This study aimed to describe the rates of linking data on children with and without congenital anomalies and evaluate the quality of the matched data. The results showed that most regions had complete and accurate linked datasets, making them suitable for researching morbidity outcomes. However, children born preterm and those born to younger or older mothers were less likely to be successfully linked.
Review
Medicine, General & Internal
Hugh Claridge, Joachim Tan, Maria Loane, Ester Garne, Ingeborg Barisic, Clara Cavero-Carbonell, Carlos Dias, Miriam Gatt, Susan Jordan, Babak Khoshnood, Sonja Kiuru-Kuhlefelt, Kari Klungsoyr, Olatz Mokoroa Carollo, Vera Nelen, Amanda J. Neville, Anna Pierini, Hanitra Randrianaivo, Anke Rissmann, David Tucker, Hermien de Walle, Wladimir Wertelecki, Joan K. Morris
Summary: This study documents the permissions processes required by the EUROlinkCAT study investigators in Europe to research the health and survival of children with congenital anomalies. The permissions requirements varied greatly across countries, with some able to conduct surveillance as part of healthcare provision while others needed ethics approvals or informed consent. Small number restrictions also affected the usability of data on specific congenital anomalies for some registries.
Article
Pediatrics
Joanne Given, Joan K. Morris, Ester Garne, Elisa Ballardini, Laia Barrachina-Bonet, Clara Cavero-Carbonell, Mika Gissler, Francesca Gorini, Anna Heino, Sue Jordan, Amanda J. Neville, Anna Pierini, Ieuan Scanlon, Joachim Tan, Stine K. Urhoj, Maria Loane
Summary: This study aimed to evaluate the prescription rates of insulin/insulin analogues in children aged 0-9 years with and without major congenital anomalies. The results showed that children with chromosomal anomalies had an increased risk of developing diabetes requiring insulin therapy, while children with non-chromosomal anomalies had a similar risk to the reference group. Female children had a reduced risk, and preterm births without congenital anomalies were more likely to be prescribed insulin/insulin analogues.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Pediatrics
Visnja Tokic Pivac, Vesna Herceg-Cavrak, Iva Hojsak, Zrinjka Misak, Oleg Jadresin, Sanja Kolacek
Summary: This study aimed to evaluate arterial parameters in pediatric IBD patients. The results showed that children with IBD have increased heart rate, altered pulse waveform, but normal arterial stiffness and carotid intima-media thickness.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)