Article
Genetics & Heredity
Alexandra A. Miller, Hana Bangash, Carin Y. Smith, Christina M. Wood-Wentz, Kent R. Bailey, Iftikhar J. Kullo
Summary: This study compared the detection of new cases in familial hypercholesterolemia (FH) families with or without an identifiable monogenic etiology. The results showed a higher detection rate of new cases in families with a monogenic etiology, primarily due to a higher uptake and yield of cascade testing.
GENETICS IN MEDICINE
(2022)
Article
Medicine, General & Internal
Amy L. Peterson, Matthew Bang, Robert C. Block, Nathan D. Wong, Dean G. Karalis
Summary: Many physicians do not conduct cascade screening and are less likely to screen individuals with family history of known HeFH, compared to those with high cholesterol or premature ASCVD family history. Most physicians are willing to screen pediatric patients but only a few are willing to start treatment at recommended ages. Further education is needed to improve the diagnosis and treatment of HeFH.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Anastasia V. Blokhina, Alexandra I. Ershova, Alexey N. Meshkov, Anna V. Kiseleva, Marina V. Klimushina, Anastasia A. Zharikova, Evgeniia A. Sotnikova, Vasily E. Ramensky, Oxana M. Drapkina
Summary: Familial hypercholesterolemia (FH) is a common genetic disorder that leads to premature cardiovascular diseases and high risk of death. Cascade screening is a cost-effective method for identifying new FH cases and preventing cardiovascular diseases. Genetic screening is the most effective way to identify new FH cases.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2022)
Article
Cardiac & Cardiovascular Systems
Amy C. Sturm, Rebecca Truty, Thomas E. Callis, Sienna Aguilar, Edward D. Esplin, Sarah Garcia, Eden Haverfield, Ana Morales, Robert L. Nussbaum, Susan Rojahn, Matteo Vatta, Daniel J. Rader
Summary: Comprehensive genetic testing for clinically significant variants associated with familial hypercholesterolemia is more accurate compared to limited-variant screens based on arrays. Limited-variant screens may falsely reassure the majority of individuals at risk for FH, especially those of self-reported Black/African American and Hispanic ancestry, by potentially missing a significant number of pathogenic variants.
Review
Genetics & Heredity
Wann Jia Loh, Dick C. Chan, Pedro Mata, Gerald F. Watts
Summary: This article discusses the incorporation of Lp(a) assessment into cascade testing for FH as a feasible and crucial part of FH care models. We also propose a simple management tool to help physicians identify and manage elevated Lp(a) in FH.
FRONTIERS IN GENETICS
(2022)
Article
Pharmacology & Pharmacy
Hayato Tada, Hirofumi Okada, Akihiro Nomura, Atsushi Nohara, Masakazu Yamagishi, Masayuki Takamura, Masa-aki Kawashiri
Summary: This study aimed to evaluate the prognostic impact of cascade screening for patients with familial hypercholesterolemia (FH). The results showed that patients identified through cascade screening were on average younger and had a lower risk for major adverse cardiac events (MACE) under milder lipid-lowering therapies compared to the probands.
JOURNAL OF CLINICAL LIPIDOLOGY
(2021)
Article
Genetics & Heredity
Man-Kwan Yip, Elaine Yin-Wah Kwan, Jenny Yin-Yan Leung, Emmy Yuen-Fun Lau, Wing-Tat Poon
Summary: This study highlights the underdiagnosis of familial hypercholesterolemia (FH) in Asia and the importance of genetic testing and cascade screening in the accurate identification and management of FH cases, especially in adult individuals with a positive family history of premature cardiovascular disease.
Review
Cardiac & Cardiovascular Systems
Jo Leonardi-Bee, Christabel Boateng, Rita Faria, Kelly Eliman, Ben Young, Nadeem Qureshi
Summary: The study found that the combination strategy yielded the highest numbers of relatives tested for FH and the direct strategy had the highest yield of index cases participating in cascade testing.
Article
Genetics & Heredity
Ezimamaka Ajufo, Emil M. DeGoma, Anna Raper, Kristen Dilzell Yu, Marina Cuchel, Daniel J. Rader
Summary: Family-based cascade screening for familial hypercholesterolemia is not significantly improved by genetic testing of the proband. Despite repeated recommendations, there is a low rate of family participation in cascade screening, with a higher enrollment rate observed in the pathogenic variant group.
GENETICS IN MEDICINE
(2021)
Article
Cardiac & Cardiovascular Systems
Brandon K. Bellows, Amit Khera, Yiyi Zhang, Natalia Ruiz-Negron, Henry M. Stoddard, John B. Wong, Dhruv S. Kazi, Sarah D. de Ferranti, Andrew E. Moran
Summary: Screening for FH using a combination of clinical criteria with genetic testing may increase identification and the opportunity for early treatment of individuals with FH.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Medicine, General & Internal
Zhiyong Du, Yunhui Du, Linyi Li, Haili Sun, Chaowei Hu, Long Jiang, Luya Wang, Yanwen Qin
Summary: This study discovered a unique metabolic pattern for screening homozygotes in patients with severe familial hypercholesterolemia (FH) through metabolomic profiling. By using this cost-effective method, homozygotes can be preselected in FH patients, allowing clinicians to conduct selective genetic confirmation testing and familial cascade screening.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Cardiac & Cardiovascular Systems
Samuel S. Gidding
Summary: Screening for familial hypercholesterolemia (FH) in childhood is a controversial topic, with existing guidelines offering conflicting advice. Although there is general agreement on the evidence and areas where evidence is lacking, there is a limitation in existing evidence-based frameworks. FH is considered a tier 1 genetic condition, and incorporating concepts such as low-density lipoprotein cholesterol reduction and atherosclerosis regression can strengthen the evidence for pediatric screening for FH.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Trond P. Leren, Martin Proven Bogsrud
Summary: Patients with familial hypercholesterolemia (FH) are at a high risk of premature cardiovascular diseases, but there are effective lipid-lowering therapies available. It is important to diagnose these patients. Organizing cascade screening for FH at a national level and establishing a national registry and a genetics center for diagnosis can greatly improve the effectiveness of the screening program.
CURRENT OPINION IN LIPIDOLOGY
(2022)
Article
Medicine, General & Internal
Andreea Teodora Constantin, Ioana Streata, Mirela Silvia Covacescu, Anca Lelia Riza, Ioana Rosca, Corina Delia, Lucia Maria Tudor, Stefania Dorobantu, Adina Dragos, Diana Ristea, Mihai Ioana, Ioan Gherghina
Summary: This study conducted genetic testing for FH in a group of 20 Romanian pediatric patients. Pathogenic/likely pathogenic variants in genes LDLR and APOB were identified in 5 cases. Early diagnosis and prevention through lipid panel screening in childhood can be life-saving for FH patients.
Article
Health Care Sciences & Services
Gemme Campbell-Salome, Laney K. Jones, Nicole L. Walters, Kelly M. Morgan, Andrew Brangan, Ilene G. Ladd, Mary P. McGowan, Katherine Wilemon, Tara J. Schmidlen, Emilie Simmons, Marci L. B. Schwartz, Megan N. McMinn, Eric Tricou, Alanna K. Rahm, Catherine D. Ahmed, Amy C. Sturm
Summary: This project aimed to optimize communication strategies to support family communication about familial hypercholesterolemia (FH) and improve cascade testing uptake among at-risk relatives. Feedback from participants was collected via interviews and surveys, and the communication strategies were optimized based on the feedback. The optimized strategies were implemented in a comprehensive cascade testing program.
BMC HEALTH SERVICES RESEARCH
(2023)
Review
Clinical Neurology
Joan K. Morris, Sandra Lopez-Leon, Yvonne Geissbuehler, Meritxell Sabido, Moise Turkson, Charlotte Wahlich
JOURNAL OF NEUROLOGY
(2020)
Article
Pediatrics
Yanyan Ni, Joanne Beckmann, John R. Hurst, Joan K. Morris, Neil Marlow
Summary: In extremely preterm (EP) infants, size at birth and catch-up growth in weight from 2.5 to 6.0 years were associated with BMI and central SBP in early adulthood. Metabolic syndrome was present in 8.7% of EP participants at 19 years, with smaller size at birth and greater weight gain linked to metabolic syndrome. Factors like birth weight and growth trajectories in childhood can affect cardiovascular and metabolic risks later in life.
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION
(2021)
Review
Genetics & Heredity
Howard Cuckle, Joan Morris
Summary: The birth prevalence rate of common autosomal trisomies generally increases with advancing maternal age, with an almost exponential increase in Down syndrome birth prevalence between ages 15 and 45. However, there is no evidence of high birth prevalence at extremely low ages. Fetal loss rates for trisomies reduce with gestation and increase with maternal age, with higher rates observed for Edwards and Patau syndromes compared to Down syndrome.
PRENATAL DIAGNOSIS
(2021)
Article
Medicine, General & Internal
Svetlana Glinianaia, Joan K. Morris, Kate E. Best, Michele Santoro, Alessio Coi, Annarita Armaroli, Judith Rankin
Article
Developmental Biology
Matilda J. Pitt, Joan K. Morris
Summary: The study found that from 2000 to 2015, there was an improvement in all-cause and congenital anomaly mortality rates for children in Europe, with significant differences between countries and regions. Despite higher mortality rates in Eastern European countries, they also experienced greater relative reductions over the study period.
BIRTH DEFECTS RESEARCH
(2021)
Article
Medicine, General & Internal
Joan K. Morris, Ester Garne, Maria Loane, Ingeborg Barisic, James Densem, Anna Latos-Bielenska, Amanda Neville, Anna Pierini, Judith Rankin, Anke Rissmann, Hermien de Walle, Joachim Tan, Joanne Emma Given, Hugh Claridge
Summary: The EUROlinkCAT study investigates the health and educational outcomes of children with congenital anomalies in their first 10 years of life, using a European network of registries to link data and perform meta-analyses. The study aims to provide evidence to improve healthcare and reduce health inequalities in Europe.
Article
Medicine, General & Internal
Joanna Orr, Joseph Freer, Joan K. Morris, Caroline Hancock, Robert Walton, Leo Dunkel, Helen L. Storr, Andrew J. Prendergast
Summary: This study examined the prevalence of short stature among 4-5 year old children in England and found significant regional and social disparities. Short stature was more prevalent in the most deprived areas, with a clear North-South divide. The study highlights the need for further investigation into socioeconomic factors influencing height and the reasons behind regional variations.
Article
Public, Environmental & Occupational Health
Helen Dolk, Christine Damase-Michel, Joan K. Morris, Maria Loane
Summary: This study reviewed the main data sources and study designs used internationally for congenital anomalies (CA) research and their strengths and limitations in investigating COVID-19 disease, medications, and vaccines. The study found that pregnancy exposure registries have been the main design for COVID-19 pregnancy studies, but lack detailed information on first-trimester exposures relevant to CA. CA registries present opportunities for improving diagnostic accuracy in COVID-19 research. In addition, multinational collaboration delivers statistical power.
PAEDIATRIC AND PERINATAL EPIDEMIOLOGY
(2022)
Editorial Material
Pediatrics
Joan K. Morris, Nicholas J. Wald
ARCHIVES OF DISEASE IN CHILDHOOD
(2023)
Article
Multidisciplinary Sciences
Stine Kjaer Urhoj, Joachim Tan, Joan K. Morris, Joanne Given, Gianni Astolfi, Silvia Baldacci, Ingeborg Barisic, Joanna Brigden, Clara Cavero-Carbonell, Hannah Evans, Mika Gissler, Anna Heino, Sue Jordan, Renee Lutke, Ljubica Odak, Aurora Puccini, Michele Santoro, Ieuan Scanlon, Hermien E. K. de Walle, Diana Wellesley, Oscar Zurriaga, Maria Loane, Ester Garne
Summary: Children with congenital anomalies have a higher risk of hospitalization and longer length of stay. However, the outlook improves after the first year. It is important to provide support and assistance to the parents of children with congenital anomalies, informing them about the necessary care and the impact on family life and siblings.
Article
Developmental Biology
Joan K. Morris, Diana Wellesley, Elizabeth Limb, Jorieke E. H. Bergman, Agnieszka Kinsner-Ovaskainen, Marie Claude Addor, Jennifer M. Broughan, Clara Cavero-Carbonell, Carlos M. Dias, Luis-Javier Echevarria-Gonzalez-de-Garibay, Miriam Gatt, Martin Haeusler, Ingeborg Barisic, Kari Klungsoyr, Nathalie Lelong, Anna Materna-Kiryluk, Amanda Neville, Vera Nelen, Mary T. O'Mahony, Isabelle Perthus, Anna Pierini, Judith Rankin, Anke Rissmann, Florence Rouget, Geraldine Sayers, Sarah Stevens, David Tucker, Ester Garne
Summary: Younger mothers in the UK have a higher risk of gastroschisis compared to other European countries. The prevalence of gastroschisis and congenital constriction bands is significantly higher in the UK, even after adjusting for maternal age. However, the prevalence of transverse limb reduction defects is similar between the UK and other countries.
BIRTH DEFECTS RESEARCH
(2022)
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
Developmental Biology
Ann-Louise Rud Andersen, Stine Kjaer Urhoj, Joachim Tan, Clara Cavero-Carbonell, Miriam Gatt, Mika Gissler, Kari Klungsoyr, Babak Khoshnood, Joan Morris, Amanda J. Neville, Anna Pierini, Ieuan Scanlon, Hermien E. K. de Walle, Diana Wellesley, Ester Garne, Maria Loane
Summary: This population-based data-linkage cohort study investigated the mortality and morbidity for the first 5 years of life in European children diagnosed with Turner syndrome. The results showed that the burden of disease was relatively high in the first year, but decreased afterwards.
BIRTH DEFECTS RESEARCH
(2023)
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
Joan Morris, Ieda M. Orioli, Adriana Benavides-Lara, Maria de la Paz Barboza-Arguello, Maria Aurora Canessa Tapia, Giovanny Vinicius Araujo de Franca, Boris Groisman, Jorge Holguin, Paula Margarita Hurtado-Villa, Marisol Ibarra Ramirez, Cecilia Mellado, Rosa Pardo, Dania Maria Pastora Bucardo, Catherin Rodriguez, Ignacio Zarante, Elizabeth Limb, Helen Dolk
Summary: The study utilized data from the Latin American Network of Congenital Malformations to estimate the prevalence of microcephaly from 2010 to 2017. Results showed that the prevalence of microcephaly increased in areas outside Brazil, with a significant rise in 2016 and 2017. In Brazil, the prevalence also increased during the Zika virus epidemic years of 2015 and 2016. Only 29 out of 687 microcephaly cases in other countries were reported as congenital Zika syndrome.
BMJ PAEDIATRICS OPEN
(2021)