Article
Obstetrics & Gynecology
Sapthami Nadesapillai, Janielle van der Velden, Dominique Smeets, Guillaume van de Zande, Didi Braat, Kathrin Fleischer, Ronald Peek
Summary: This case report describes a young girl initially diagnosed with exclusively 45,X Turner syndrome, but with a cryptic mosaicism in the ovaries. Despite the presence of normal oocytes, the study found that all analyzed follicles contained exclusively 45,X granulosa cells embedded in mosaic 45,X/47,XXX stromal tissue, which may have functional consequences for follicular development.
FERTILITY AND STERILITY
(2021)
Review
Endocrinology & Metabolism
Jiaojiao Cheng, Xiangyan Ruan, Juan Du, Fengyu Jin, Muqing Gu, Alfred Mueck, Yurui O. Wu
Summary: The case report highlighted the importance of early evaluation for fertility preservation in TS patients and suggested OTC as a reasonable option for highly selected young females with mosaic TS, as long as endocrine evaluation does not indicate POI and other health problems do not rule out future pregnancy.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Pediatrics
Yuanzhen Ye, Zhanqi Hu, Jiahui Mai, Li Chen, Dezhi Cao, Jianxiang Liao, Jing Duan
Summary: In the past three years, cases of developmental disability, ataxia, and seizure syndrome associated with PUM1 gene mutations have been identified. This study presents the first reported case of a patient with a PUM1 mutation exhibiting features of a Dravet-like syndrome.
FRONTIERS IN PEDIATRICS
(2022)
Review
Endocrinology & Metabolism
Tsuyoshi Isojima, Susumu Yokoya
Summary: Turner syndrome is a chromosomal disorder in females characterized by short stature and gonadal dysgenesis. Girls with untreated TS are significantly shorter than the general population and their growth patterns differ. Growth hormone therapy and estrogen replacement treatment are essential for optimal growth and development in these girls. This review discusses overall growth, pubertal growth, secular trend, growth-promoting treatment, and hormone replacement treatment in girls with Turner syndrome.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Endocrinology & Metabolism
Elisavet Kouvidi, Sophia Zachaki, Nikoletta Selenti, Danai Veltra, Theodora Evmorfopoulou, Eirini Tsoutsou, Garifallia Tzifa, Christalena Sofocleous, Sarantis Gagos, Ariadni Mavrou
Summary: The study describes a novel unbalanced X;21 translocation in a 16-year-old girl, resulting in a derivative pseudodicentric chromosome X;21 lacking critical region for ovarian development and function. The primary amenorrhea and Turner-like characteristics of the proband are apparently due to the loss of specific genes on the translocated chromosome X segment.
GYNECOLOGICAL ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Jovanna Dahlgren, Kerstin Albertsson-Wikland
Summary: Both prepubertal NS-children and TS-girls had a high GH secretion, but low IGFI/IGFBP3 levels only in NS-children. Both groups presented a broad individual response. NS-children showed higher response in IGFI and growth, pointing to higher responsiveness to GH treatment than TS-girls.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Neurosciences
Vanessa Lozano Wun, Lara C. Foland-Ross, Booil Jo, Tamar Green, David Hong, Judith L. Ross, Allan L. Reiss
Summary: Turner syndrome (TS) is a common sex chromosome abnormality in females, causing various physical, cognitive, and socio-emotional characteristics. This study investigated the effects of TS on the development of cortical gray matter volume, thickness, and surface area in the brain. The results revealed both direct and indirect effects of X-monosomy on brain development in TS, with differences observed in various brain regions. These findings provide valuable insights into the understanding of TS-associated alterations in brain structure.
HUMAN BRAIN MAPPING
(2023)
Article
Gastroenterology & Hepatology
Isani Singh, Gillian Noel, Jennifer M. Barker, Kathryn C. Chatfield, Anna Furniss, Amber D. Khanna, Natalie J. Nokoff, Sonali Patel, Laura Pyle, Leena Nahata, Francis S. Cole, Chijioke Ikomi, Vaneeta Bamba, Patricia Y. Fechner, Shanlee M. Davis
Summary: This study investigates liver abnormalities in children with Turner Syndrome (TS) and finds a higher prevalence of elevated liver enzymes and liver diseases compared to matched controls. These findings highlight the importance of early and consistent liver function screening in TS and the need for further research on the etiology and treatment of liver disease in this population.
LIVER INTERNATIONAL
(2022)
Review
Endocrinology & Metabolism
Kento Ikegawa, Yukihiro Hasegawa
Summary: Turner syndrome patients are at high risk of osteoporosis and fractures, with hypogonadism as a major contributing factor. Estrogen deficiency leads to low bone mineral density and increased fracture prevalence. Estrogen replacement therapy improves bone density, but other factors may also contribute to low bone density.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Anji T. Yetman, Karl Stessy M. Bisselou, Jennifer N. Sanmann, Renee J. Katz, Catherine J. Steingraeber, Megan Wilde, Mary Murray, Lois J. Starr
Summary: This study aimed to evaluate the prevalence of vascular dissection and risk factors in women with Turner syndrome, finding ascending aortic dissection is not uncommon in this patient cohort, with a lack of transition to adult cardiology subspecialty care. Ongoing interaction with a cardiologist is crucial for optimizing cardiac outcomes.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2021)
Article
Genetics & Heredity
Zhenglong Guo, Bing Kang, Dong Wu, Hai Xiao, Leilei Hao, Bingtao Hao, Shixiu Liao
Summary: This case report describes a rare occurrence of a girl with partial trisomy 21 chimera born from an IVF-ET twin pregnancy. The girl displayed growth retardation and feeding difficulties, which were not observed in her twin sister. Genetic counseling and diagnosis confirmed that she is a chimera with complex partial trisomy 21, potentially caused by paternal chromosome rearrangement during meiosis and mitosis.
FRONTIERS IN GENETICS
(2022)
Article
Public, Environmental & Occupational Health
Huijia Lin, Xiaoya Wang, Shuang Qin, Fanglan Luo, Yingmei Cen, Gendie E. Lash, Li Li
Summary: This study investigated the hearing status of Turner Syndrome (TS) patients in China and the influencing factors. It was found that TS patients commonly have mid-frequency and high-frequency hearing loss, and the incidence of hearing loss increases with age. Patients with 45, X haplotype have a higher risk of mid-frequency hearing loss compared to other karyotypes. Therefore, karyotype may serve as a predictor of hearing problems in TS patients.
FRONTIERS IN PUBLIC HEALTH
(2023)
Article
Pediatrics
Maristella Santi, Christa E. Fluck, Michael Hauschild, Beatrice Kuhlmann, Claudia E. Kuehni, Grit Sommer
Summary: Most women with Turner syndrome have a healthy lifestyle, such as not smoking and avoiding binge drinking, but only a minority engage in sufficient physical activity. Pediatricians should promote structured physical activity from early childhood to reduce future cardiovascular risks.
Article
Medicine, General & Internal
David Rodriguez-Buritica, Meaghan Mones, Siddharth K. Prakash, Michelle Rivera, Melissa Aldrich, Megan Rogge, Kate Richardson
Summary: This study found that skin conditions are highly prevalent in Turner syndrome patients during the early decades of life, highlighting the importance of utilizing these conditions in the diagnostic process and emphasizing the need for specialized dermatology referrals to address the detrimental impacts on quality of life.
FRONTIERS IN MEDICINE
(2023)
Article
Pediatrics
Sophy Korula, Shafini Beryl, Vandana Kamath, Sherin Susheel Mathew, Vivek Joseph
Summary: Turner syndrome and craniopharyngioma are both rare disorders, and their coexistence is not commonly known.
INDIAN JOURNAL OF PEDIATRICS
(2022)
Article
Genetics & Heredity
Beau D. E. Janssen, Marie-Jose H. van den Boogaard, Klaske Lichtenbelt, Eleanor G. Seaby, Karen Stals, Sian Ellard, Ruth Newbury-Ecob, Abhijit Dixit, Laura Roht, Sander Pajusalu, Katrin Ounap, Helen Firth, Michael Buckley, Meredith Wilson, Tony Roscioli, Timothy Tidwell, Rong Mao, Sarah Ennis, Sjoerd J. Holwerda, Koen van Gassen, Richard H. van Jaarsveld
Summary: TAF4 is identified as a novel dominant disease gene associated with neuro-developmental disorders (NDD) and is named T4NDD. It shares common features with other TAF-opathies related to TFIID subunits.
Article
Genetics & Heredity
Magdalena Mroczek, Inna Inashkina, Janis Stavusis, Pawel Zayakin, Andrey Khrunin, Ieva Micule, Victorija Kenina, Anna Zdanovica, Jana Zidkova, Lenka Fajkusova, Svetlana Limborska, Anneke J. van der Kooi, Esther Brusse, Lea Leonardis, Ales Maver, Sander Pajusalu, Katrin Ounap, Sanna Puusepp, Paula Dobosz, Mateusz Sypniewski, Birute Burnyte, Baiba Lace
Summary: Research indicates the presence of the investigated intronic CAPN3 variant NM_000070.3:c.1746-20C>G in Central and Eastern Europe with a frequency exceeding 1%, with conflicting interpretations on its pathogenicity. Data collected on 14 patients carrying the CAPN3 c.1746-20C>G variant in conjunction with another CAPN3 pathogenic/likely pathogenic variant reveals a consistent phenotype of mild to moderate severity calpainopathy. The variant is most commonly found in the North/West regions of Russia and may have originated from there. Molecular studies demonstrate the production of different splicing isoforms in the muscle. It is hypothesized that c.1746-20C>G is a hypomorphic variant that leads to a reduction in RNA and protein expression, with only individuals exhibiting a higher ratio of abnormal isoforms being affected. Reclassifying the CAPN3 variant c.1746-20C>G from a variant with conflicting interpretations on pathogenicity to a hypomorphic variant explains numerous unidentified cases of limb girdle muscular dystrophy R1 calpain 3-related in Eastern and Central Europe.
Article
Genetics & Heredity
Hannes Jurgens, Laura Roht, Liis Leitsalu, Margit Noukas, Marili Palover, Tiit Nikopensius, Anu Reigo, Mart Kals, Kersti Kallak, Riina Kuetner, Kai Budrikas, Saskia Kuusk, Vahur Valvere, Piret Laidre, Kadri Toome, Kadri Rekker, Mikk Tooming, Tiina Kahre, Krista Kruuv-Kao, Katrin ounap, Peeter Padrik, Andres Metspalu, Tonu Esko, Krista Fischer, Neeme Tonisson
Summary: This study describes the experience of using genetic data for personalized clinical prevention measures in a national pilot study. The results show that genetic risk variants are relatively common in the average-risk Estonian population. Most breast cancer cases occur before the age of 50, and only one-third of individuals would have been eligible for clinical screening.
FRONTIERS IN GENETICS
(2022)
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)
Article
Genetics & Heredity
Laura Roht, Mikk Tooming, Kadri Rekker, Hanno Roomere, Kadri Toome, Ulle Murumets, Ustina Samarina, Katrin Ounap, Tiina Kahre
Summary: The study aimed to analyze the prevalence of pathogenic/likely pathogenic germline variants in Estonian colorectal cancer patients, revealing that 21.4% of CRC patients had disease-causing variants identified. This suggests that genetic testing could significantly improve timely diagnosis and outcomes for CRC patients in Estonia.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Mio Aerden, Anne-Sophie Denomme-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Benedicte Gerard, Benoit Mazel, Christophe Philippe, Lucile Pinson, Clement Prouteau, Audrey Putoux, Frederic Tran Mau-Them, Eleonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amelie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortuem, Jasmin Lisfeld, Francois-Guillaume Debray, Nuria C. Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin-Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa Lopez-Gonzalez, Maria Kibaek, Pernille M. Torring, Alessandra Renieri, Lucia Pia Bruno, Katrin Ounap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch
Summary: Haploinsufficiency of TRIP12 causes Clark-Baraitser syndrome, a neurodevelopmental disorder characterized by intellectual disability, epilepsy, autism spectrum disorder, and dysmorphic features. Through GestaltMatcher image analysis based on deep-learning algorithms, a distinct facial gestalt was established. The largest cohort to date of individuals with TRIP12 variants was studied, further defining the associated phenotype and introducing a facial gestalt.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Multidisciplinary Sciences
Nicola de Prisco, Caitlin Ford, Nathan D. Elrod, Winston Lee, Lauren C. Tang, Kai-Lieh Huang, Ai Lin, Ping Ji, Venkata S. Jonnakuti, Lia Boyle, Maximilian Cabaj, Salvatore Botta, Katrin ounap, Karit Reinson, Monica H. Wojcik, Jill A. Rosenfeld, Weimin Bi, Kristian Tveten, Trine Prescott, Thorsten Gerstner, Audrey Schroeder, Chin-To Fong, Jaya K. George-Abraham, Catherine A. Buchanan, Andrea Hanson-Khan, Jonathan A. Bernstein, Aikaterini A. Nella, Wendy K. Chung, Vicky Brandt, Marko Jovanovic, Kimara L. Targoff, Hari Krishna Yalamanchili, Eric J. Wagner, Vincenzo A. Gennarino
Summary: Alternative polyadenylation (APA) generates different transcripts from the same gene by cleaving the pre-mRNA at different poly(A) sites. While most studies focus on APA within the 3' untranslated region (3' UTR), this study shows that CPSF6 insufficiency affects protein levels and leads to a developmental syndrome by deregulating APA throughout the transcript. In neonatal humans and zebrafish larvae, CPSF6 insufficiency alters poly(A) site usage in a pathway-specific manner.
Article
Genetics & Heredity
Laura Roht, Hanne K. K. Hyldebrandt, Astrid T. T. Stormorken, Hilde Nordgarden, Rolf H. H. Sijmons, Dennis K. K. Bos, Douglas Riegert-Johnson, Sarah Mantia-Macklin, Pilvi Ilves, Kai Muru, Monica H. H. Wojcik, Tiina Kahre, Katrin Ounap
Summary: In this study, genotypic and phenotypic information of 13 individuals with AXIN2 pathogenic/likely pathogenic variants was collected. These individuals showed variable expression of oligodontia-colorectal cancer syndrome or oligodontia-cancer predisposition syndrome. In addition, three family members also had cleft palate, which may represent a new clinical feature of AXIN2 phenotype. Further research should be conducted to determine whether AXIN2 should be included in cleft lip/palate multigene panels.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Genetics & Heredity
L. Mauring, S. Puusepp, M. Parik, E. Roomets, R. Teek, T. Reimand, S. Pajusalu, K. Kaljurand, K. Ounap
Summary: In this study, a new autosomal recessive inheritance pattern of Leber's hereditary optic neuropathy (LHON) caused by a missense variant in the DNAJC30 gene was described. The c.152A > G, p.(Tyr51Cys) variant was found to be the most common in patients from Eastern Europe and is believed to be a founder variant. The study reported the first two cases of DNAJC30-linked autosomal recessive LHON in Estonia, with severe loss of central vision and clinical features indistinguishable from mitochondrial LHON.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2023)
Review
Oncology
Laura Roht, Piret Laidre, Mikk Tooming, Neeme Tonisson, Margit Noukas, Miriam Nurm, Kadri Estonian Biobank Res Team, Hanno Roomere, Kadri Rekker, Kadri Toome, Olga Fjodorova, Uelle Murumets, Ustina Samarina, Sander Pajusalu, Anu Aaspollu, Liis Salumae, Kristina Muhu, Jaan Soplepmann, Katrin Ounap, Tiina Kahre
Summary: This study aimed to estimate the prevalence of Lynch syndrome and describe disease-causing variants in mismatch repair genes in the Estonian population. The study found a six-fold increase in the prevalence of Lynch syndrome over a ten-year period. Raising the age limit for immunohistochemistry analysis of MMR genes improved the diagnostic yield. Family members sharing information enabled earlier diagnosis and prevention.
Article
Medicine, Research & Experimental
Sally C. Fletcher, Charlotte Hall, Tristan J. Kennedy, Sander Pajusalu, Monica H. Wojcik, Uncaar Boora, Chan Li, Kaisa Teele Oja, Eline Hendrix, Christian A. E. Westrip, Regina Andrijes, Sonia K. Piasecka, Mansi Singh, Mohammed E. El-Asrag, Anetta Ptasinska, Vallo Tillmann, Martin R. Higgs, Deanna A. Carere, Andrew D. Beggs, John Pappas, Rachel Rabin, Stephen J. Smerdon, Grant S. Stewart, Katrin Ounap, Mathew L. Coleman
Summary: Although protein hydroxylation is not well understood, recent research has revealed its role in oxygen sensing and hypoxia biology. JMJD5, a protein hydroxylase essential for mouse embryonic development and viability, has been found to have pathogenic variants that cause severe developmental disorders in humans. These variants affect mRNA splicing, protein stability, and hydroxylase activity, leading to failure to thrive, intellectual disability, and facial dysmorphism. This study contributes to our understanding of the importance of protein hydroxylases in human development and disease.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Genetics & Heredity
Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Ounap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmuller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra
Summary: We studied WDR5, a broadly studied key protein involved in various biological functions. We found rare de novo germline missense variants in WDR5 that are associated with neurodevelopmental disorders. These variants may disrupt interactions of WDR5 with crucial proteins such as RbBP5 and/or KMT2A/C.
HUMAN GENETICS AND GENOMICS ADVANCES
(2023)
Meeting Abstract
Clinical Neurology
M. Mroczek, I. Inashkina, J. Stavusis, P. Zayakin, A. Khrunin, I. Micule, V. Kenina, A. Zdanovica, J. Zidkova, L. Fajkusova, S. Limborska, A. J. Van der Kooi, E. Brusse, L. Leonardis, A. Maver, S. Pajusalu, K. Ounap, S. Puusepp, P. Dobosz, M. Sypniewski, B. Burnyte, B. Lace
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Sander Pajusalu, Sanna Puusepp, Karit Reinson, Kai Muru, Tiia Reimand, Monica H. Wojcik, Anne O'Donnell-Luria, Katrin Ounap
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Sanna Puusepp, Tiia Reimand, Chris Pruunsild, Nina Powell-Hamilton, Kari Magnussen, George Anadiotis, Katrin Ounap
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Clinical Neurology
Ani Gok, Seha Kamil Saygili, Sebuh Kurugoglu, Sema Saltik, Nur Canpolat
Summary: This study examines the occurrence of nephrolithiasis in children with type 1 SMA and identifies hypercalciuria and high urine specific gravity as common risk factors. The study suggests that children with SMA type 1 may have an increased risk of nephrolithiasis compared to the general population.
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Glenn S. Rivera, Jesse A. Stokum, Janet Dean, Cristina L. Sadowsky, Allan J. Belzberg, Matthew J. Elrick
Summary: This study evaluated the surgical efficacy of nerve transfer surgery in patients with acute flaccid myelitis (AFM) and found that preoperative clinical and neurophysiological data play a valuable role in preoperative planning and patient selection. The postoperative outcomes demonstrated that nerve transfer surgery is an effective strategy to restore strength.
PEDIATRIC NEUROLOGY
(2024)
Review
Clinical Neurology
Tristan T. Sands, Jennifer N. Gelinas
Summary: This review explores the concept of epileptic encephalopathy (EE) in pediatric epilepsy, discussing the potential impact of epileptic activity on normal brain development and mechanisms underlying cognitive and behavioral impairments. The findings highlight the threat of epileptic activity to normal brain physiology and development.
PEDIATRIC NEUROLOGY
(2024)
Editorial Material
Clinical Neurology
Grace Gombolay, Melissa A. Walker
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Salman Rashid, Monisha Goyal, Kathryn Lalor, Khaled Al-Robaidi, Vivek Shukla, Fazlur Rahman, Manimaran Ramani
Summary: This study investigated the seizure risk in asymptomatic preterm infants with high-grade intraventricular hemorrhage who underwent long-term video electroencephalographic monitoring. The findings showed that approximately 16% of these infants had seizures, and those with seizures were younger and more likely to be remonitored.
PEDIATRIC NEUROLOGY
(2024)
Letter
Clinical Neurology
Bernadeta Zabielska, Natalia Rzewuska, Sergiusz Jozwiak
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Kelly C. Burk, Maki Kaneko, Catherine Quindipan, My H. Vu, Maritza Feliz Cepin, Jonathan D. Santoro, Michele Van Hirtum-Das, Deborah Holder, Gordana Raca
Summary: This study compared the diagnostic yields of chromosomal microarray (CMA) and epilepsy-genes sequencing (EGS) for genetic epilepsy etiologies. It found that EGS had a significantly higher diagnostic yield than CMA, especially for patients with infantile seizure onset and additional neurological findings.
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Ursula Thome, Larissa A. Batista, Renata P. Rocha, Vera C. Terra, Ana Paula A. Hamad, Americo C. Sakamoto, Antonio C. Santos, Marcelo Santos, Helio R. Machado
Summary: Rasmussen encephalitis (RE) is a characterized by pharmacoresistant epilepsy and progressive neurological deficits. Surgical disconnection of the affected hemisphere is considered the treatment of choice, although the precise etiology is still unknown. This study reports the clinical, electrographic, and neuroimaging features of children and adolescents who underwent hemispheric surgery (HS) for the treatment of RE.
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Michal Tzadok, Rotem Gur-Pollack, Hadar Florh, Yael Michaeli, Tal Gilboa, Mirit Lezinger, Eli Heyman, Veronika Chernuha, Irina Gudis, Andreea Nissenkorn, Tally Lerman-Sagie, Bruria Ben Zeev, Shimrit Uliel-Sibony
Summary: Purified CBD is well-tolerated and effective in reducing seizure frequency in children and young adults with drug-resistant epilepsy.
PEDIATRIC NEUROLOGY
(2024)
Editorial Material
Clinical Neurology
Zimeng Ye, Sufang Lin, Xia Zhao, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Jing Duan, Yi Yao, Lin Li, Li Chen, Dezhi Cao, Zhanqi Hu, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Nicolas J. Abreu, Madeline Chiujdea, Shanshan Liu, Bo Zhang, Sarah J. Spence
Summary: This study found a low completion rate of chromosomal microarray (CMA) testing for patients with autism spectrum disorder (ASD). Provider recommendation and more follow-up visits were associated with CMA completion. Age, intellectual disability or global developmental delay, first-degree relative with ASD, and public insurance were all related to CMA completion. Parental concern and cost/insurance coverage were the most frequently documented barriers.
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Wafa Bouchaala, Sirine Laroussi, Yosra Mzid, Imen Maaloul, Olfa Jallouli, Salma Zouari, Sihem Ben Nsir, Zeineb Mnif, Fatma Kammoun, Chahnez Triki
Summary: Moyamoya angiopathy is a rare but serious cerebrovascular disease in children, which may result in arterial ischemic stroke. The clinical and radiological presentations can vary and are often overlooked. Early diagnosis and treatment are crucial.
PEDIATRIC NEUROLOGY
(2024)
Letter
Clinical Neurology
Eline M. C. Hamilton, Pinar Topaloglu, Jigyasha Sinha, Francesco Nicita, Genevieve Bernard, S. Ali Fatemi, Marjo S. van der Knaap
PEDIATRIC NEUROLOGY
(2024)
Article
Clinical Neurology
Muhamad Azamin Anuar, Muhammad'Adil Zainal Abidin, Soo Hong Tan, Cai Fong Yeap, Nor Azni Yahaya
Summary: This study conducted in Malaysia found that most infants with epilepsy can achieve seizure remission. However, poor seizure control and developmental delay are associated with abnormal EEG background and neuroimaging abnormalities.
PEDIATRIC NEUROLOGY
(2024)