Article
Genetics & Heredity
Frederic Tran Mau-Them, Julian Delanne, Anne-Sophie Denomme-Pichon, Hana Safraou, Ange-Line Bruel, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Sebastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent-Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clement Prouteau, Estelle Colin, Agnes Guichet, Alban Ziegler, Dominique Bonneau, Godelieve Morel, Melanie Fradin, Alinoe Lavillaureix, Chloe Quelin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Brehin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance F. Wells, Caroline Deiller, Mathilde Nizon, Sandra Mercier, Marie Vincent, Bertrand Isidor, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Mederic Jeanne, Elise Schaeffer, Pierre-Yves Maillard, Frederique Payet, Marie-Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Emilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet
Summary: This study describes the implementation of exome sequencing in prenatal diagnosis in France after the detection of anomalies on prenatal ultrasound. The study found that trio-exome sequencing provided a high diagnostic yield with a median turnaround time of 28 days. Trio-exome sequencing and chromosomal microarray analysis were concordant for identifying pathogenic CNVs.
FRONTIERS IN GENETICS
(2023)
Article
Genetics & Heredity
Monica H. Wojcik, Katharine P. Callahan, Austin Antoniou, Maya C. del Rosario, Luca Brunelli, Nahed O. ElHassan, Semsa Gogcu, Karna Murthy, Jennifer A. Rumpel, Jennifer A. Wambach, Kristen Suhrie, Kristen Fishler, Bimal P. Chaudhari
Summary: This study investigated the variation in genomic medicine services in level IV neonatal intensive care units (NICUs) in the United States and Canada. Although chromosomal microarray and exome or genome sequencing were widely available, access to these services was restricted in some centers. Despite a significant burden of genetic disease, many NICUs had limited availability of rapid, comprehensive genetic testing relevant to critical care decision making. Further efforts are needed to improve access to neonatal genomic medicine services.
GENETICS IN MEDICINE
(2023)
Article
Obstetrics & Gynecology
Michael Muriello
Summary: The role of genomic sequencing in the NICU has changed with advances in technology and bioinformatics. Studies have shown that it has an average diagnostic yield of close to 40% and immediate impact on clinical management in more than 20% of patients, with the highest clinical utility in the perinatal setting. Therefore, genomic sequencing should be the standard of care for NICU patients.
CLINICS IN PERINATOLOGY
(2022)
Article
Immunology
Jing-Jiang Zhou, Wei-Chao Ding, Yan-Cun Liu, Yu-Lei Gao, Lei Xu, Run-Lu Geng, Ying Ye, Yan-Fen Chai
Summary: This study evaluated the diagnostic performance of metagenomic next-generation sequencing (mNGS) and culture in detecting pathogens in patients with suspected pulmonary infection. The results showed that mNGS had a significantly higher positive detection rate than culture, indicating its value as a tool for identifying pathogens, especially in ICU patients who are more prone to mixed infections.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2022)
Article
Medicine, General & Internal
Andres Moreno-De-Luca, Francisca Millan, Denis R. Pesacreta, Houda Z. Elloumi, Matthew T. Oetjens, Claire Teigen, Karen E. Wain, Julie Scuffins, Scott M. Myers, Rebecca I. Torene, Vladimir G. Gainullin, Kevin Arvai, H. Lester Kirchner, David H. Ledbetter, Kyle Retterer, Christa L. Martin
Summary: The molecular diagnostic yield of exome sequencing among patients with cerebral palsy was found to be 32.7% in a cohort of pediatric patients and 10.5% in a cohort of adult patients. Further research is needed to understand the clinical implications of these findings. This study provides insights into the prevalence of pathogenic and likely pathogenic variants detected in children and adults with cerebral palsy undergoing genetic testing through exome sequencing.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2021)
Article
Pediatrics
Haiyan Ma, Zezhong Tang, Feifan Xiao, Long Li, Yangfang Li, Wenyan Tang, Liping Chen, Wenqing Kang, Yulan Lu, Xinran Dong, Guoqiang Cheng, Laishuan Wang, Wei Lu, Lin Yang, Qi Ni, Xiaomin Peng, Yao Wang, Yun Cao, Bingbing Wu, Wenhao Zhou, Deyi Zhuang, Guang Lin, Huijun Wang
Summary: Neonatal metabolic acidosis (NMA) is a common problem, particularly in critically ill patients in neonatal intensive care units (NICUs), with a difficult diagnosis. 37% of neonates with metabolic acidosis have genetic disorders, with metabolic diseases being the leading cause. Accurate diagnosis can provide valuable treatment options for some genetic diseases.
FRONTIERS IN PEDIATRICS
(2021)
Article
Environmental Sciences
Randall Jenkins, Devlynne Ondusko, Luke Montrose, Ryan Forbush, David Rozansky
Summary: The study shows that in a neonatal unit, infants receive 98% of DEHP exposure from respiratory devices, with bubble CPAP accounting for 95% of the total exposure. By avoiding the use of IV tubing containing DEHP and modifying respiratory equipment appropriately, DEHP exposure can be significantly reduced.
Article
Health Care Sciences & Services
Amy A. Lemke, Michelle L. Thompson, Emily C. Gimpel, Katelyn C. McNamara, Carla A. Rich, Candice R. Finnila, Meagan E. Cochran, James M. J. Lawlor, Kelly M. East, Kevin M. Bowling, Donald R. Latner, Susan M. Hiatt, Michelle D. Amaral, Whitley V. Kelley, Veronica Greve, David E. Gray, Stephanie A. Felker, Hannah Meddaugh, Ashley Cannon, Amanda Luedecke, Kelly E. Jackson, Laura G. Hendon, Hillary M. Janani, Marla Johnston, Lee Ann Merin, Sarah L. Deans, Carly Tuura, Trent Hughes, Heather Williams, Kelly Laborde, Matthew B. Neu, Jessica Patrick-Esteve, Anna C. E. Hurst, Brian M. Kirmse, Renate Savich, Steven B. Spedale, Sara J. Knight, Gregory S. Barsh, Bruce R. Korf, Gregory M. Cooper, Kyle B. Brothers
Summary: This study examined parents' experiences with genome sequencing (GS) as a first-line diagnostic tool for infants in the NICU. The results showed that GS in infancy is important for reproductive decision making, preparing for the child's care, ending the diagnostic odyssey, and sharing results with care providers. Most parents found the timing of disclosure acceptable, although the NICU environment was overwhelming for many. Parents did not consistently report negative impacts on parent-infant bonding and variable impact on feelings of guilt.
JOURNAL OF PERSONALIZED MEDICINE
(2023)
Article
Multidisciplinary Sciences
Lu Lin, Weiqin Liu, Jing Mu, Enmei Zhan, Hong Wei, Siqi Hong, Ziyu Hua
Summary: The establishment of NNICU has gradually improved and standardized neuroprotective therapy and clinical follow-up to improve neurodevelopmental prognosis of NE patients. The unit focused on neonatal neurocritical care for babies susceptible to NE with evidence-based medicine guidance.
Article
Genetics & Heredity
Elisabet Rodriguez Llorian, Nick Dragojlovic, Teresa M. Campbell, Jan M. Friedman, Horacio Osiovich, Alison M. Elliott, Larry D. Lynd
Summary: This study compared the downstream utilization of medical services among critically ill infants who received rapid exome sequencing (ES) and those who followed alternative diagnostic testing pathways. The results showed that there was no evidence that ES changes the frequency of outpatient visits or use of in-hospital resources in critically ill infants with suspected genetic disorders.
GENETICS IN MEDICINE
(2022)
Article
Obstetrics & Gynecology
Bryce A. Schuler, Mackenzie Mosera, L. Dupree Hatch, Angela Grochowsky, Ferrin Wheeler
Summary: This study investigates the impact of collaborative efforts between the NICU, cytogenetics, and clinical genetics on reducing unnecessary genetic testing. The results show a decrease in simultaneous karyotype analyses and CMAs, as well as a decrease in abnormal karyotype testing. The frequency of genetics consultation remained unchanged.
JOURNAL OF PERINATOLOGY
(2023)
Article
Public, Environmental & Occupational Health
Y. Toyama, K. Hisata, Y. Kasai, S. Nakano, M. Komatsu, T. Shimizu
Summary: This study investigated the transmission pathway of MSSA in neonatal intensive care units through genetic analysis, revealing that hospital environment and healthcare workers may contribute to the spread of MSSA. It emphasizes the importance of thorough environmental maintenance and parental education in addition to hand hygiene for controlling MSSA infections.
JOURNAL OF HOSPITAL INFECTION
(2022)
Article
Pediatrics
Katherine F. Guttmann, Kristina Orfali, Amy S. Kelley
Summary: Communication quality measurement in pediatrics, especially in neonatology, is a challenging and understudied area that is crucial for the advancement of the field. Despite the lack of existing measures specifically for the NICU, our focused review identified validated instruments for adult patients that could potentially be adapted for neonatal populations. Further research is needed to develop a comprehensive tool for assessing communication quality in the NICU.
PEDIATRIC RESEARCH
(2022)
Review
Clinical Neurology
Wei-Liang Chen, Heather C. Mefford
Summary: The role of genetics in epilepsy has been well recognized and genome-wide technologies have identified numerous genes and variants associated with epilepsy. There are various genetic testing options available in clinical setting and genetic testing is a dynamic process.
Article
Genetics & Heredity
Ana Arteche-Lopez, Maria Jose Gomez Rodriguez, Maria Teresa Sanchez Calvin, Juan Francisco Quesada-Espinosa, Jose Miguel Lezana Rosales, Carmen Palma Milla, Irene Gomez-Manjon, Irene Hidalgo Mayoral, Ruben Perez de la Fuente, Arancha Diaz de Bustamante, Maria Teresa Darnaude, Belen Gil-Fournier, Soraya Ramiro Leon, Patricia Ramos Gomez, Olalla Sierra Tomillo, Alexandra Juarez Rufian, Maria Isabel Arranz Cano, Rebeca Villares Alonso, Pablo Morales-Perez, Alejandro Segura-Tudela, Ana Camacho, Noemi Nunez, Rogelio Simon, Marta Moreno-Garcia, Maria Isabel Alvarez-Mora
Summary: The study compared the clinical utility of CMA, FMR1 testing, and/or WES in 343 ASD patients, finding a higher diagnostic power of WES compared to CMA in the study of ASD. The results support the implementation of WES as a first-tier test for the genetic diagnosis of ASD.
Article
Psychology, Developmental
Emma K. Baker, Sheena Arora, David J. Amor, Perrin Date, Meagan Cross, James O'Brien, Chloe Simons, Carolyn Rogers, Stephen Goodall, Jennie Slee, Chris Cahir, David E. Godler
Summary: This study compared the costs associated with raising a child with four rare disorders (Prader-Willi, Angelman, Chromosome 15q Duplication, and fragile X syndromes) and examined the relationship between these costs and clinical severity. The study found that intellectual functioning negatively predicted total costs, and the impact of intellectual functioning on total costs was significantly different in individuals with Angelman syndrome compared to other syndromes.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Ethics
Hilary Bowman-Smart, Christopher Gyngell, Cara Mand, David J. Amor, Martin B. Delatycki, Julian Savulescu
Summary: The article discusses the potential use of noninvasive prenatal testing (NIPT) for testing non-medical traits, presenting arguments against and in favor of permitting such use. The objections to permitting these uses include practical problems and negative impacts on the child, family, and society, while the arguments for permitting them include reproductive liberty and autonomy, as well as the principle of procreative beneficence.
AMERICAN JOURNAL OF BIOETHICS
(2023)
Article
Genetics & Heredity
Lottie D. Morison, Elisabeth Meffert, Miriam Stampfer, Irene Steiner-Wilke, Brigitte Vollmer, Katrin Schulze, Tracy Briggs, Ruth Braden, Adam Vogel, Daisy Thompson-Lake, Chirag Patel, Edward Blair, Himanshu Goel, Samantha Turner, Ute Moog, Angelika Riess, Frederique Liegeois, David A. Koolen, David J. Amor, Tjitske Kleefstra, Simon E. Fisher, Christiane Zweier, Angela T. Morgan
Summary: Disruptions of FOXP2 can cause severe speech disorder known as childhood apraxia of speech (CAS). This study examined individuals with pathogenic FOXP2-only variants and found that speech disorders, including CAS, were prevalent in these cases. Other comorbidities such as feeding difficulties, motor impairment, anxiety, depression, and sleep disturbance were also observed. The study emphasizes the importance of FOXP2 in understanding the neurobiological basis of speech disorder.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Antony Kaspi, Michael S. Hildebrand, Victoria E. Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J. Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K. Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, Shaun Ziegenfusz, Mark F. Bennett, Erandee Robertson, Longfei Wang, Amber Boys, Simon E. Fisher, David J. Amor, Ingrid E. Scheffer, Melanie Bahlo, Angela T. Morgan
Summary: This study identified new candidate genes associated with childhood apraxia of speech (CAS) through genome sequencing and bioinformatic analysis. The findings highlight the roles of chromatin organization and gene regulation in CAS, and confirm co-expression of CAS-related genes during brain development.
MOLECULAR PSYCHIATRY
(2023)
Article
Genetics & Heredity
Emma K. Baker, Marta Arpone, Minh Bui, Claudine M. Kraan, Ling Ling, David Francis, Mathew F. Hunter, Carolyn Rogers, Michael J. Field, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Summary: This study found significant associations between FMR1 methylation levels in blood and buccal epithelial cells and FMR1 mRNA levels and intellectual functioning in males with FXS, with stronger relationships seen using MS-QMA compared to mSB.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Genetics & Heredity
Melanie Leffler, Louise Christie, Anna Hackett, Bruce Bennetts, Himanshu Goel, David J. Amor, Greg B. Peters, Michael Field, Tracy Dudding-Byth
Summary: The low copy tandem repeat area at Xq28 is prone to recurrent copy number gains, including the K/L mediated duplications of 300 kb size (herein described as the K/L mediated Xq28 duplication syndrome). We describe five families, including nine males with K/L mediated Xq28 duplications, some with regions of greater copy number variation (CNV). We summarise findings in 25 affected males reported to date.
Article
Biochemistry & Molecular Biology
Miya St John, Olivia van Reyk, David A. Koolen, Bert B. A. de Vries, David J. Amor, Angela T. Morgan
Summary: This study provides a detailed characterization of speech and language impairment in Koolen-de Vries syndrome (KdVS). It defines the medical and neurodevelopmental phenotype in the largest cohort of KdVS individuals to date, highlighting the core features of intellectual disability, eye anomalies, structural brain anomalies, and dental problems. While most individuals with KdVS can speak, some use augmentative and alternative communication methods. The study also reveals relative weaknesses in language, literacy, and social skills, and relative strengths in social competence and coping skills.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
David I. Francis, Zornitza Stark, Ingrid E. Scheffer, Tiong Yang Tan, Krithika Murali, Lyndon Gallacher, David J. Amor, Himanshu Goel, Lilian Downie, Chloe A. Stutterd, Emma I. Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen L. Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke, Paul Kalitsis, Meaghan Wall
Summary: This study aimed to compare the diagnostic yield of saliva and blood for pathogenic copy number variants (CNVs). The results showed that saliva microarray testing had increased diagnostic utility over blood testing in individuals with syndromic intellectual disability (ID). Mosaic pathogenic CNVs or aneuploidy were detected in saliva but not in blood.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Endocrinology & Metabolism
Merel A. A. Post, Isis de Wit, Fokje S. M. Zijlstra, Udo F. H. Engelke, Arno van Rooij, John Christodoulou, Tiong Yang Tan, Anna Le Fevre, Danqun Jin, Joy Yaplito-Lee, Beom Hee Lee, Karen J. J. Low, Andrew A. A. Mallick, Katrin Ounap, James Pitt, William Reardon, Mari-Anne Vals, Saskia B. B. Wortmann, Hans J. C. T. Wessels, Melissa Barenfanger, Clara D. M. van Karnebeek, Dirk J. J. Lefeber
Summary: Congenital disorders of glycosylation (CDG) are a diverse group of inherited metabolic disorders, and diagnosing MOGS-CDG can be challenging due to its clinical heterogeneity and lack of detection by transferrin screening. This study clinically characterized ten MOGS-CDG cases, including six previously unreported individuals, and identified a common phenotype characterized by dysmorphic features, developmental delay, muscular hypotonia, seizures, and in some cases vision problems and hypogammaglobulinemia. A quantitative method using liquid chromatography-mass spectrometry was developed to analyze urinary Glc(3)Man and successfully diagnosed MOGS-CDG in all six analyzed cases.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Review
Biochemistry & Molecular Biology
Erin Crellin, Melissa Martyn, Belinda McClaren, Clara Gaff
Summary: Patient care experiences play a crucial role in the successful implementation of genomics in paediatric care. A scoping review was conducted to understand parents' experiences and needs regarding genetic testing for rare diseases in their children. The review revealed that parents valued feeling cared for, consistent relationships with clinicians, empathic communication, updated information during the waiting period for test results, and access to support resources following result disclosure. Strategies to address unmet needs were proposed, but evidence on their effectiveness was limited. This emphasizes the need for rigorous interventions and the integration of genomics into paediatric care.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Clinical Neurology
Renee Smyth, Susan M. Reid, Kate Paton, Angela T. Guzys, Claire E. Wakefield, David J. Amor
Summary: The aim of this study was to understand parents' beliefs about the causes of cerebral palsy (CP) and the emotions related to those beliefs. A survey was conducted on 226 parents of children with CP aged 1 to 18 years. The majority of participants expressed the importance of understanding the causes of CP, but there was also uncertainty about the causes. The most commonly endorsed causal factors were intrapartum hypoxia, brain damage, and preterm birth, and parents often experienced feelings of anger, sadness, guilt, and confusion.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Article
Genetics & Heredity
Linda M. Reis, David J. Amor, Raad A. Haddad, Catherine B. Nowak, Kim M. Keppler-Noreuil, Smith Ann Chisholm, Elena V. Semina
Summary: Axenfeld-Rieger anomaly is an ocular disorder associated with other systemic abnormalities. This study identified pathogenic variants in nine families affecting five different genes/regions. USP9X and JAG1 were the most commonly mutated genes associated with the disorder. Variants in CDK13, BCOR, and an X chromosome deletion were also found to be linked with Axenfeld-Rieger syndrome.
Article
Biochemistry & Molecular Biology
David E. Godler, Yoshimi Inaba, Minh Q. Bui, David Francis, Cindy Skinner, Charles E. Schwartz, David J. Amor
Summary: This study characterizes the specific DNA methylation patterns of fragile X syndrome in blood and brain tissues, providing a novel avenue for the detection of the syndrome through DNA methylation analysis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Erin Turbitt, Meg Bourne, Alison McEwen, David J. Amor
Summary: This study investigated parents' preferences and motivations for acquiring and discussing prognostic genetic test results. The findings showed that parents had varying levels of tolerance for prognostic uncertainty and focused more on their child's potential and challenges. However, they also expressed concerns about the potential loss of hope and societal stigma associated with prognostic information.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
