Article
Genetics & Heredity
Sebastien Lebon, Mathieu Quinodoz, Virginie G. Peter, Carole Gengler, Gaelle Blanchard, Viviane Cina, Belinda Campos-Xavier, Carlo Rivolta, Andrea Superti-Furga
Summary: The study found that KDM5B gene variants may be associated with developmental delay, autism spectrum disorders, and facial dysmorphism. It is noteworthy that these variants may also lead to agenesis of the corpus callosum, indicating that the KDM5B gene should be included in gene panels to clarify the etiology of ACC.
Article
Neurosciences
Yurui Guo, Alpen Ortug, Rodney Sadberry, Arthur Rezayev, Jacob Levman, Tadashi Shiohama, Emi Takahashi
Summary: This study aimed to identify symptom-related neuroimaging biomarkers for patients with dysgenesis of the corpus callosum (dCC), revealing differential links between brain volumes and structures and various symptoms. Specifically, left hemisphere GI abnormality could serve as a predictor for the disease.
Article
Anatomy & Morphology
Lisa Bartha-Doering, Ernst Schwartz, Kathrin Kollndorfer, Florian Ph. S. Fischmeister, Astrid Novak, Georg Langs, Harald Werneck, Daniela Prayer, Rainer Seidl, Gregor Kasprian
Summary: Complete agenesis of the corpus callosum (ACC) is associated with impaired functions in specific language domains, while partial ACC does not show significant effects; ACC children performed significantly worse than controls in verbal fluency and naming; Stronger functional connectivity between left and right temporal areas is associated with better language abilities in the ACC group.
BRAIN STRUCTURE & FUNCTION
(2021)
Review
Obstetrics & Gynecology
Filomena Giulia Sileo, Daniele Di Mascio, Giuseppe Rizzo, Massimo Caulo, Lucia Manganaro, Emma Bertucci, Sophie Masmejan, Marco Liberati, Alice D'Amico, Luigi Nappi, Danilo Buca, Tim Van Mieghem, Asma Khalil, Francesco D'Antonio
Summary: This study found that the rate of associated anomalies detected exclusively at fetal MRI in isolated ACC undergoing neurosonography is lower than previously reported. Cortical and posterior fossa anomalies are among the most common anomalies missed at ultrasound.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
(2021)
Article
Genetics & Heredity
Ting-ying Lei, Qin She, Fang Fu, Li Zhen, Ru Li, Qiu-xia Yu, Dan Wang, Ying-si Li, Ken Cheng, Hang Zhou, Xin Yang, Min Pan, Dong-zhi Li, Can Liao
Summary: This study used exome sequencing (ES) to investigate callosal anomalies (CA) in fetuses, and found that ES can be used diagnostically to define the molecular defects underlying unexplained CA. Most isolated CA patients with negative genetic test results will have a favorable prognosis in early childhood.
PRENATAL DIAGNOSIS
(2022)
Review
Genetics & Heredity
Monica-Cristina Panzaru, Setalia Popa, Ancuta Lupu, Cristina Gavrilovici, Vasile Valeriu Lupu, Eusebiu Vlad Gorduza
Summary: This article provides an overview of the genetic heterogeneity in agenesis of the corpus callosum (ACC), highlighting its association with various syndromes and emphasizing the importance of understanding ACC's genetic heterogeneity for diagnosis, early intervention, and family planning.
FRONTIERS IN GENETICS
(2022)
Article
Clinical Neurology
Justine Fraize, Pauline Garzon, Alexandra Ntorkou, Eliot Kerdreux, Odile Boespflug-Tanguy, Anita Beggiato, Richard Delorme, Lucie Hertz-Pannier, Monique Elmaleh-Berges, David Germanaud
Summary: This study aimed to identify easily accessible neuroanatomical abnormalities for diagnosing fetal alcohol spectrum disorders (FASD) in fetal alcohol syndrome (FAS) and non-syndromic forms (NS-FASD). The results showed significant abnormalities in certain brain measurements in FASD patients compared to the control group. Therefore, incorporating neuroanatomical-radiological criteria into the diagnosis of FASD may improve its specificity.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Article
Psychology, Developmental
Tiffany Renteria-Vazquez, Warren S. Brown, Christine Kang, Mark Graves, Fulvia Castelli, Lynn K. Paul
Summary: The study found that individuals with AgCC and ASD lack social imagination in inferring interactions of animated triangles, displaying significantly less typicality in social attributions compared to the control group.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2022)
Article
Veterinary Sciences
Neeltje J. Veenema, Koen M. Santifort, Nienke W. Kuijpers, Anne Seijger, Peter R. Hut
Summary: This case report presents a crossbred Belgian Blue calf with congenital complex brain anomaly, showing severe abnormalities including hydrocephalus, porencephaly, and partial corpus callosum agenesis. Despite thorough examinations, the exact etiology of the malformations remains unknown.
FRONTIERS IN VETERINARY SCIENCE
(2021)
Article
Public, Environmental & Occupational Health
Pieta Shakes, Andrew Cashin, John Hurley
Summary: The objective of prenatal screening and diagnosis is to support parents preparing to deliver a baby with medical needs or disabilities, but research shows that this objective is not fully realized. The diagnosis of agenesis of the corpus callosum, characterized by uncertainty in various aspects, can cause distress for expectant mothers. This study explores the maternal experience of continuing pregnancy after such a prenatal diagnosis and emphasizes the need for healthcare professionals to have awareness and provide support throughout the process.
SOCIAL SCIENCE & MEDICINE
(2023)
Article
Acoustics
M. C. Diogo, S. Glatter, D. Prayer, G. M. Gruber, D. Bettelheim, M. Weber, G. Dovjak, R. Seidl, G. Kasprian
Summary: This study aimed to apply and validate a fetal MRI anatomical scoring system in a cohort of fetuses with isolated CCA, and found a significant negative correlation between fetal MRI score and neurodevelopmental outcome, suggesting the potential for better risk stratification for poor neurodevelopmental outcome in CCA patients by assessing structural features of the fetal brain on MRI.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2021)
Article
Genetics & Heredity
Maree Maxfield, Monica S. Cooper, Anne Kavanagh, Alexandra Devine, Liz Gill Atkinson
Summary: This research provides insight into the experiences of adults with corpus callosum disorders, highlighting the lack of information and support for these individuals. Improved professional and societal understanding is crucial for enhancing access to education, employment, and social inclusion for those affected. The study paves the way for further research to inform policy and service responses for both current and emerging adults with a DCC.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Multidisciplinary Sciences
Javier Virues-Ortega, Nicole S. McKay, Jessica C. McCormack, Nerea Lopez, Rosalie Liu, Ian Kirk
Summary: This study used MRI data analysis to explore the association between neural biomarkers and behavioral interventions in individuals with autism spectrum disorder (ASD). The results revealed significant differences in white matter integrity in the posterior corpus callosum between participants who received parent-managed behavioral intervention and those who did not, with the effect modulated by the intensity of the intervention. The study provides the basis for estimating the statistical power required for future RCTs in this field.
Article
Medicine, General & Internal
Callum J. Smith, Zoey G. Smith, Hania Rasool, Katie Cullen, Meghana Ghosh, Thomas E. Woolley, Orhan Uzun, Ne Ron Loh, David Tucker, Yasir Ahmed Syed
Summary: This study comprehensively describes the epidemiology and clinical co-morbidity associated with patients diagnosed with Agenesis of the Corpus Callosum (ACC), and identifies factors that contribute towards increased risk for the condition. The study found that complete ACC was the most prevalent subtype, and ventriculomegaly/hydrocephalus and ventricular septal defect were the most prevalent neural malformation and congenital heart disorder in the cohort. Socioeconomic deprivation and increased maternal age were found to contribute towards an increased risk for ACC.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Acoustics
H. Mahallati, A. Sotiriadis, C. Celestin, A. E. Millischer, P. Sonigo, D. Grevent, N. O'Gorman, N. Bahi-Buisson, T. Attie-Bitach, Y. Ville, L. J. Salomon
Summary: Objective fetal abnormalities of the corpus callosum have been reported in prenatal imaging literature since 1985 and pose challenges for both patients and fetal medicine specialists, especially when isolated. A systematic review was conducted to assess the heterogeneity in terminology and definitions used for abnormalities other than complete agenesis of the corpus callosum. The study found that there is much greater heterogeneity in nomenclature and definition of corpus callosum anomalies in prenatal literature compared to postnatal literature, making it difficult to develop large multicenter cohorts to better understand genetic associations and outcomes of patients with these anomalies.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2021)
Article
Genetics & Heredity
Shiri Shinar, Swati Agrawal, Darine El-Chaar, Nimrah Abbasi, Robert Beecroft, John Kachura, Johannes Keunen, Gareth Seaward, Tim Van Mieghem, Rory Windrim, Greg Ryan
Summary: Comparing perinatal outcomes of RFA, laser, and BC in selective reduction of complicated monochorionic twin pregnancies, RFA procedures were found to be simpler, faster, and associated with a lower risk of preterm delivery.
PRENATAL DIAGNOSIS
(2021)
Article
Acoustics
S. Shinar, W. Xing, V Pruthi, C. Jianping, F. Slaghekke, S. Groene, E. Lopriore, L. Lewi, I Couck, Y. Yinon, L. Batsry, L. Raio, S. Amylidi-Mohr, D. Baud, F. Kneuss, P. Dekoninck, J. Moscou, J. Barrett, N. Melamed, G. Ryan, L. Sun, T. Van Mieghem
Summary: This study retrospectively reviewed 328 twin pregnancies complicated by Type-III sIUGR managed at nine fetal centers over a 12-year period, finding that the risk of adverse neonatal outcome was 29% at delivery by 32 weeks, while continuing to 34 weeks resulted in a low risk of fetal death and adverse neonatal outcome.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2021)
Article
Obstetrics & Gynecology
Shiri Shinar, Laura Walsh, Nicole Roberts, Nir Melamed, Jon Barrett, Catherine Riddell, Howard Berger
Summary: The study aimed to assess the risks for maternal and neonatal outcomes associated with elective delivery at different gestational ages ranging from 37 0/7 to 39 6/7 weeks among women with at least 2 previous cesarean deliveries. The results showed that elective delivery at 39 weeks was associated with decreased risk for adverse outcomes compared to expectant management.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2022)
Article
Acoustics
S. Shinar, W. Xing, L. Lewi, F. Slaghekke, Y. Yinon, L. Raio, D. Baud, P. Dekoninck, N. Melamed, E. Huszti, L. Sun, T. Van Mieghem
Summary: Abnormal fetal growth of the smaller twin in Type-III selective fetal growth restriction (sFGR) is evident early in pregnancy, while the larger twin's estimated fetal weight remains normal. Normalization of umbilical artery Doppler is associated with improved fetal growth of the smaller twin.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2022)
Review
Obstetrics & Gynecology
Shiri Shinar, Swati Agrawal, Michelle Ryu, Sharon Walmsley, Lena Serghides, Mark H. Yudin, Kellie E. Murphy
Summary: This systematic review and meta-analysis found that pregnant women living with HIV on antiretroviral therapy have an increased risk of preterm birth, low birthweight, and small-for-gestational age in high resource countries compared with HIV-negative controls. The risk of preterm birth and low birthweight is also higher in low income countries for these women.
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA
(2022)
Article
Acoustics
S. Shinar, K. Harris, T. Van Mieghem, L. Lewi, A. M. Morency, S. Blaser, G. Ryan
Summary: This study assessed cerebral injury after spontaneous sIUD in monochorionic pregnancies, finding an association between increased MCA-PSV and cerebral injury. Early MRI examination within approximately 2 weeks after sIUD diagnosis was valuable in identifying any cerebral injury.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2022)
Article
Audiology & Speech-Language Pathology
P. Tsai, N. Wisener, B. C. Papsin, S. L. Cushing, K. A. Gordon
Summary: This study aimed to investigate whether mismatched bilateral cochlear implants result in imbalanced stimulation of the auditory nerves and asymmetric hearing in children. The results showed that higher current levels were required from the anti-modiolar array compared to the peri-modiolar array, which was not fully accounted for in device programming. Mismatched electrodes in children receiving bilateral cochlear implants increased the risk of asymmetric hearing.
Article
Genetics & Heredity
Mandy Rickard, Jin Kyu Kim, Tim Van Mieghem, Shiri Shinar, Ashlene McKay, Joana Dos Santos, Natasha Brownrigg, Daniel T. T. Keefe, Armando J. J. Lorenzo, Michael Chua
Summary: A nomogram for predicting the diagnosis of lower urinary tract obstruction (LUTO) has been developed using a Bayesian Meta-regression analysis, and it has shown superior diagnostic accuracy compared to the keyhole sign (KHS). The accuracy of the nomogram in expanded diagnostic utilization was validated using data from a prospective institutional antenatal clinic database. The nomogram demonstrated higher sensitivity and specificity, as well as a superior area under the curve (AUC), compared to KHS.
PRENATAL DIAGNOSIS
(2023)
Article
Genetics & Heredity
Vagisha Pruthi, Nimrah Abbasi, Varsha Thakur, Shiri Shinar, Anne O'Connor, Rachel Silver, Tasha Simpson, Tim Van Mieghem
Summary: This study aimed to assess the performance of a comprehensive fetal anatomy assessment in a high-risk population. A retrospective review of high-risk patients undergoing comprehensive fetal anatomy ultrasound assessment was conducted. The results showed that early assessments had similar performance metrics as the second trimester anatomy ultrasound. We advocate for a comprehensive fetal assessment in the care of high-risk pregnancies.
PRENATAL DIAGNOSIS
(2023)
Article
Acoustics
Y. Kunpalin, J. Sichitiu, P. Krishan, S. Blaser, P. Shannon, T. Van Mieghem, S. Shinar
Summary: This study aimed to investigate the midline cystic structure in fetuses with open spina bifida (OSB) and its association with other brain abnormalities. The results showed that approximately 75% of OSB cases have a suprapineal pseudocyst, which is associated with the degree of hindbrain herniation but not with abnormalities of the cavum septi pellucidi (CSP) and corpus callosum (CC) or presence of periventricular nodular heterotopia (PNH). Therefore, the pseudocyst should not be considered as additional brain pathology and should not prevent fetuses from undergoing fetal surgery for OSB.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Article
Multidisciplinary Sciences
Timur H. Latypov, Matthew C. So, Peter Shih-Ping Hung, Pascale Tsai, Matthew R. Walker, Sarasa Tohyama, Marina Tawfik, Frank Rudzicz, Mojgan Hodaie
Summary: Advances in neuroimaging have allowed non-invasive examination of the human brain in pain. Using artificial intelligence models with neuroimaging data, this study successfully distinguished subtypes of neuropathic facial pain from healthy controls, with high accuracy. The models also identified specific brain structural indicators of pain that differed across the pain groups.
SCIENTIFIC REPORTS
(2023)
Review
Genetics & Heredity
Shiri Shinar, David Chitayat, Patrick Shannon, Susan Blaser
Summary: Macrocephaly refers to a large head size, which can be primary or secondary. It can be caused by various factors and the prognosis depends on the specific condition, genetic factors, and central nervous system findings.
PRENATAL DIAGNOSIS
(2023)
Review
Obstetrics & Gynecology
Tim Van Mieghem, Nimrah Abbasi, Shiri Shinar, Johannes Keunen, Gareth Seaward, Rory Windrim, Greg Ryan
Summary: Monoamniotic twin pregnancies are rare and have a higher incidence of complications and lower survival rate. Early anatomy screening is recommended to detect fetal anomalies. Causes of fetal death include fetal anomalies and twin-twin transfusion syndrome. After viability, closer fetal surveillance is advised to reduce the risk of in utero death. If uncomplicated, delivery should occur at 33 to 34 weeks' gestation.
AMERICAN JOURNAL OF OBSTETRICS & GYNECOLOGY MFM
(2022)