keyword
https://read.qxmd.com/read/38509227/viral-infections-in-pregnancy-and-impact-on-offspring-neurodevelopment-mechanisms-and-lessons-learned
#21
REVIEW
Emma F Yates, Sarah B Mulkey
Pregnant individuals with viral illness may experience significant morbidity and have higher rates of pregnancy and neonatal complications. With the growing number of viral infections and new viral pandemics, it is important to examine the effects of infection during pregnancy on both the gestational parent and the offspring. Febrile illness and inflammation during pregnancy are correlated with risk for autism, attention deficit/hyperactivity disorder, and developmental delay in the offspring in human and animal models...
March 20, 2024: Pediatric Research
https://read.qxmd.com/read/38508193/a-syndromic-neurodevelopmental-disorder-caused-by-rare-variants-in-ppfia3
#22
Maimuna S Paul, Sydney L Michener, Hongling Pan, Hiuling Chan, Jessica M Pfliger, Jill A Rosenfeld, Vanesa C Lerma, Alyssa Tran, Megan A Longley, Richard A Lewis, Monika Weisz-Hubshman, Mir Reza Bekheirnia, Nasim Bekheirnia, Lauren Massingham, Michael Zech, Matias Wagner, Hartmut Engels, Kirsten Cremer, Elisabeth Mangold, Sophia Peters, Jessica Trautmann, Claudia Perne, Jessica L Mester, Maria J Guillen Sacoto, Richard Person, Pamela P McDonnell, Stacey R Cohen, Laina Lusk, Ana S A Cohen, Jean-Baptiste Le Pichon, Tomi Pastinen, Dihong Zhou, Kendra Engleman, Caroline Racine, Laurence Faivre, Sébastien Moutton, Anne-Sophie Denommé-Pichon, Hyun Yong Koh, Annapurna Poduri, Jeffrey Bolton, Cordula Knopp, Dong Sun Julia Suh, Andrea Maier, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Reza Maroofian, Gerald Bradley Schaefer, Vijayalakshmi Ramakumaran, Pradeep Vasudevan, Benito Banos-Pinero, Alistair T Pagnamenta, Chitra Prasad, Matthew Osmond, Sarah Schuhmann, Georgia Vasileiou, Sophie Russ-Hall, Ingrid E Scheffer, Gemma L Carvill, Heather Mefford, Carlos A Bacino, Brendan H Lee, Hsiao-Tuan Chao
No abstract text is available yet for this article.
March 19, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38506155/brca1-associated-protein-1-tumor-predisposition-syndrome-and-kury-isidor-syndrome-from-genotype-phenotype-correlation-to-clinical-management
#23
REVIEW
Elizabeth Casey West, Marco Chiappetta, Aubrey Anne Mattingly, Maria Teresa Congedo, Jessica Evangelista, Annalisa Campanella, Carolina Sassorossi, Sara Flamini, Teresa Rossi, Mariaelena Pistoni, Ludovico Abenavoli, Stefano Margaritora, Filippo Lococo, Luigi Boccuto
The BAP1 tumor suppressor gene encodes a deubiquitinase enzyme involved in several cellular activities, including DNA repair and apoptosis. Germline pathogenic variants in BAP1 have been associated with heritable conditions including BAP1 tumor predisposition syndrome 1 (BAP1-TPDS1) and a neurodevelopmental disorder known as Kury-Isidor syndrome (KURIS). Both these conditions are caused by monoallelic, dominant alterations of BAP1 but have never been reported in the same subject or family, suggesting a mutually exclusive genotype-phenotype correlation...
March 20, 2024: Clinical Genetics
https://read.qxmd.com/read/38505792/validation-of-factor-structure-of-the-neurodevelopmental-parent-report-for-outcome-monitoring-in-down-syndrome-confirmatory-factor-analysis
#24
JOURNAL ARTICLE
Nicole T Baumer, Katherine G Pawlowski, Bo Zhang, Georgios Sideridis
INTRODUCTION: The Neurodevelopmental Parent Report for Outcome Monitoring (ND-PROM), initially developed to monitor developmental and behavioral functions in children with autism spectrum disorder (ASD), assesses symptoms across a wide range of domains relevant in Down syndrome (DS). METHODS: Psychometric properties of ND-PROM were assessed in 385 individuals with DS and 52 with a combined diagnosis of DS and ASD (DS+ASD), whose caregivers completed the ND-PROM questionnaire for a clinical visit in a specialized Down syndrome program at a tertiary pediatric hospital...
2024: Frontiers in Psychiatry
https://read.qxmd.com/read/38503299/mono-allelic-kcnb2-variants-lead-to-a-neurodevelopmental-syndrome-caused-by-altered-channel-inactivation
#25
JOURNAL ARTICLE
Shreyas Bhat, Justine Rousseau, Coralie Michaud, Charles Marques Lourenço, Joan M Stoler, Raymond J Louie, Lola K Clarkson, Angie Lichty, Daniel C Koboldt, Shalini C Reshmi, Sanjay M Sisodiya, Eva M M Hoytema van Konijnenburg, Klaas Koop, Peter M van Hasselt, Florence Démurger, Christèle Dubourg, Bonnie R Sullivan, Susan S Hughes, Isabelle Thiffault, Elisabeth Simard Tremblay, Andrea Accogli, Myriam Srour, Rikard Blunck, Philippe M Campeau
Ion channels mediate voltage fluxes or action potentials that are central to the functioning of excitable cells such as neurons. The KCNB family of voltage-gated potassium channels (Kv) consists of two members (KCNB1 and KCNB2) encoded by KCNB1 and KCNB2, respectively. These channels are major contributors to delayed rectifier potassium currents arising from the neuronal soma which modulate overall excitability of neurons. In this study, we identified several mono-allelic pathogenic missense variants in KCNB2, in individuals with a neurodevelopmental syndrome with epilepsy and autism in some individuals...
March 13, 2024: American Journal of Human Genetics
https://read.qxmd.com/read/38502237/joubert-syndrome-derived-induced-pluripotent-stem-cells-show-altered-neuronal-differentiation-in-vitro
#26
JOURNAL ARTICLE
Roberta De Mori, Silvia Tardivo, Lidia Pollara, Silvia Clara Giliani, Eltahir Ali, Lucio Giordano, Vincenzo Leuzzi, Rita Fischetto, Blanca Gener, Santo Diprima, Marco J Morelli, Maria Cristina Monti, Virginie Sottile, Enza Maria Valente
Joubert syndrome (JS) is a recessively inherited congenital ataxia characterized by hypotonia, psychomotor delay, abnormal ocular movements, intellectual disability, and a peculiar cerebellar and brainstem malformation, the "molar tooth sign." Over 40 causative genes have been reported, all encoding for proteins implicated in the structure or functioning of the primary cilium, a subcellular organelle widely present in embryonic and adult tissues. In this paper, we developed an in vitro neuronal differentiation model using patient-derived induced pluripotent stem cells (iPSCs), to evaluate possible neurodevelopmental defects in JS...
March 19, 2024: Cell and Tissue Research
https://read.qxmd.com/read/38501627/paediatric-symptomatic-seizures-in-india-unravelling-varied-etiologies-and-neuroimaging-patterns-a-multicentric-study
#27
JOURNAL ARTICLE
J Baradwaj, R Balaji, A Kumar, L Kannan, D Nayak
Pediatric neuroimaging presents a unique set of challenges, primarily stemming from the intricacies of normal myelination processes occurring within the initial two years of life. This complexity is particularly pronounced in the context of pediatric epilepsy, where a substantial proportion of neuroimaging cases appears normal, especially in instances of idiopathic or provoked seizures. Nevertheless, abnormalities in neuroimaging tend to manifest in cases of acute or remote symptomatic seizures. Notably, the etiological landscape of seizures in children diverges significantly from that observed in adults, with neurodevelopmental, neurometabolic, and neuro-infectious factors emerging as predominant contributors...
January 2024: Georgian Medical News
https://read.qxmd.com/read/38501559/exploring-the-neurological-features-of-individuals-with-germline-pten-variants-a-multicenter-study
#28
JOURNAL ARTICLE
Andrew Dhawan, Sarah Baitamouni, Darren Liu, Robyn Busch, Patricia Klaas, Thomas W Frazier, Siddharth Srivastava, Sumit Parikh, Gary E Hsich, Neil R Friedman, David M Ritter, Antonio Y Hardan, Julian A Martinez-Agosto, Mustafa Sahin, Charis Eng
OBJECTIVE: PTEN, a known tumor suppressor gene, is a mediator of neurodevelopment. Individuals with germline pathogenic variants in the PTEN gene, molecularly defined as PTEN hamartoma tumor syndrome (PHTS), experience a variety of neurological and neuropsychiatric challenges during childhood, including autism spectrum disorder (ASD). However, the frequency and nature of seizures and the utilization of allied health services have not been described. METHODS: Young patients with PHTS and sibling controls were recruited across five centers in the United States and followed every 6-12 months for a mean of 2...
March 19, 2024: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/38500028/social-skills-in-neurodevelopmental-disorders-a-study-using-role-plays-to-assess-adolescents-and-young-adults-with-22q11-2-deletion-syndrome-and-autism-spectrum-disorders
#29
JOURNAL ARTICLE
Clémence Feller, Laura Ilen, Stephan Eliez, Maude Schneider
BACKGROUNDS: Social skills are frequently impaired in neurodevelopmental disorders and genetic conditions, including 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). Although often assessed with questionnaires, direct assessment provides a more valid estimate of the constructs. Role-plays (i.e., simulates situational settings) therefore appear to be an appropriate indicator of social skills in daily life. METHODS: This co-registered study involved 53 individuals with 22q11DS, 34 individuals with ASD, and 64 typically developing (TD) peers aged 12-30 years...
March 18, 2024: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/38498202/people-with-intellectual-disabilities-dysphagia-and-post-covid-syndrome
#30
JOURNAL ARTICLE
Lance Watkins, Amit Kulkarni, Emma Webber, Paul Bassett, Kirsten Lamb, Indermeet Sawhney, Richard Laugharne, Pauline Heslop, Angela Jones, Geraldine Napier, Angela Crocker, Manoj Sivan, Rohit Shankar
People with Intellectual Disability (ID) were more likely to contract COVID-19 infection and more likely to die from the consequences. However, there is no evidence on the long-term impact of COVID-19 infection in people with ID. Post-Covid Syndrome (PCS) is an established diagnosis that requires specialist clinical support. To date there is no data on how common PCS is in people with ID, or how symptoms present. Dysphagia is identified as a clinical marker because of the known association with PCS, and the clear objective diagnostic criteria applicable through specialist assessment...
March 18, 2024: Dysphagia
https://read.qxmd.com/read/38498110/prenatal-phenotype-of-a-homozygous-nonsense-mpdz-variant-in-a-fetus-with-severe-congenital-hydrocephalus
#31
JOURNAL ARTICLE
Nathalie Vanden Eynde, Eve Van den Mooter, Elise Vantroys, Elke De Schutter, Astrid Leus, Kathelijn Keymolen, Boyan Dimitrov, Kim van Berkel
The fetal phenotype of MPDZ-associated congenital hydrocephalus type 2 with or without brain or eye anomalies (HYC2) (OMIM 615219) is not well described in the literature. The present case shows not previously published clinical fetal features that are detected during routine second trimester ultrasound screening at 21 weeks of gestation such as bilateral ventriculomegaly, lean cavum septum pellucidum, suspicion of hypoplastic corpus callosum, and suspicion of gyration disorder with normal fossa posterior...
March 18, 2024: Prenatal Diagnosis
https://read.qxmd.com/read/38497812/pleiotropic-effects-of-trisomy-and-pharmacologic-modulation-on-structural-functional-molecular-and-genetic-systems-in-a-down-syndrome-mouse-model
#32
JOURNAL ARTICLE
Sergi Llambrich, Birger Tielemans, Ellen Saliën, Marta Atzori, Kaat Wouters, Vicky Van Bulck, Mark Platt, Laure Vanherp, Nuria Gallego Fernandez, Laura Grau de la Fuente, Harish Poptani, Lieve Verlinden, Uwe Himmelreich, Anca Croitor, Catia Attanasio, Zsuzsanna Callaerts-Vegh, Willy Gsell, Neus Martínez-Abadías, Greetje Vande Velde
Down syndrome (DS) is characterized by skeletal and brain structural malformations, cognitive impairment, altered hippocampal metabolite concentration and gene expression imbalance. These alterations were usually investigated separately, and the potential rescuing effects of green tea extracts enriched in epigallocatechin-3-gallate (GTE-EGCG) provided disparate results due to different experimental conditions. We overcame these limitations by conducting the first longitudinal controlled experiment evaluating genotype and GTE-EGCG prenatal chronic treatment effects before and after treatment discontinuation...
March 18, 2024: ELife
https://read.qxmd.com/read/38496825/distribution-of-hand-function-by-age-in-individuals-with-rett-syndrome
#33
JOURNAL ARTICLE
Jeffrey L Neul, Tim A Benke, Eric D Marsh, Jane B Lane, David N Lieberman, Steven A Skinner, Daniel G Glaze, Bernhard Suter, Peter T Heydemann, Arthur A Beisang, Shannon M Standridge, Robin C C Ryther, Richard H Haas, Lloyd J Edwards, Amitha Ananth, Alan K Percy
OBJECTIVE: To determine the longitudinal distribution of hand function skills in individuals with classic Rett Syndrome (RTT), an X-linked dominant neurodevelopmental disorder, and correlate with MECP2 variants. METHOD: We conducted a longitudinal study of 946 girls and young women with typical RTT seen between 2006 and 2021 in the US Natural History Study (NHS) featuring a structured clinical evaluation to assess the level of hand function skills. The specific focus in this study was to assess longitudinal variation of hand skills from age 2 through age 18 years in relation to specific MECP2 variant groups...
September 2023: Ann Child Neurol Soc
https://read.qxmd.com/read/38496654/myt1l-deficiency-impairs-excitatory-neuron-trajectory-during-cortical-development
#34
Allen Yen, Xuhua Chen, Dominic D Skinner, Fatjon Leti, MariaLynn Crosby, Jessica Hoisington-Lopez, Yizhe Wu, Jiayang Chen, Robi D Mitra, Joseph D Dougherty
Mutations that reduce the function of MYT1L, a neuron-specific transcription factor, are associated with a syndromic neurodevelopmental disorder. Furthermore, MYT1L is routinely used as a proneural factor in fibroblast-to-neuron transdifferentiation. MYT1L has been hypothesized to play a role in the trajectory of neuronal specification and subtype specific maturation, but this hypothesis has not been directly tested, nor is it clear which neuron types are most impacted by MYT1L loss. In this study, we profiled 313,335 nuclei from the forebrains of wild-type and MYT1L-deficient mice at two developmental stages: E14 at the peak of neurogenesis and P21, when neurogenesis is complete, to examine the role of MYT1L levels in the trajectory of neuronal development...
March 7, 2024: bioRxiv
https://read.qxmd.com/read/38496558/novel-syndromic-neurodevelopmental-disorder-caused-by-de-novo-deletion-of-chaserr-a-long-noncoding-rna
#35
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, Kay-Marie Lamar, Miriam C Aziz, Pauline Monin, Melanie O'Leary, Julia K Goodrich, Kiran V Garimella, Eleina England, Esther Yoon, Ben Weisburd, Francois Aguet, Carlos A Bacino, David R Murdock, Hongzheng Dai, Jill A Rosenfeld, Lisa T Emrick, Shamika Ketkar, Yael Sarusi, Damien Sanlaville, Saima Kayani, Brian Broadbent, Bertrand Isidor, Alisée Pengam, Benjamin Cogné, Daniel G MacArthur, Igor Ulitsky, Gemma L Carvill, Anne O'Donnell-Luria
Genes encoding long non-coding RNAs (lncRNAs) comprise a large fraction of the human genome, yet haploinsufficiency of a lncRNA has not been shown to cause a Mendelian disease. CHASERR is a highly conserved human lncRNA adjacent to CHD2- a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here we report three unrelated individuals each harboring an ultra-rare heterozygous de novo deletion in the CHASERR locus. We report similarities in severe developmental delay, facial dysmorphisms, and cerebral dysmyelination in these individuals, distinguishing them from the phenotypic spectrum of CHD2 haploinsufficiency...
February 7, 2024: medRxiv
https://read.qxmd.com/read/38495533/nuclease-free-precise-genome-editing-corrects-mecp2-mutations-associated-with-rett-syndrome
#36
JOURNAL ARTICLE
Swati Bijlani, Ka Ming Pang, Lakshmi V Bugga, Sampath Rangasamy, Vinodh Narayanan, Saswati Chatterjee
Rett syndrome is an acquired progressive neurodevelopmental disorder caused by de novo mutations in the X-linked MECP2 gene which encodes a pleiotropic protein that functions as a global transcriptional regulator and a chromatin modifier. Rett syndrome predominantly affects heterozygous females while affected male hemizygotes rarely survive. Gene therapy of Rett syndrome has proven challenging due to a requirement for stringent regulation of expression with either over- or under-expression being toxic. Ectopic expression of MECP2 in conjunction with regulatory miRNA target sequences has achieved some success, but the durability of this approach remains unknown...
2024: Frontiers in genome editing
https://read.qxmd.com/read/38493112/the-assessment-of-preschool-children-with-essence-symptoms-concordance-between-parents-preschool-teachers-and-child-psychologists
#37
JOURNAL ARTICLE
B M Gustafsson, M Sund Levander
BACKGROUND: It is important to detect children with Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations (ESSENCE) in order to implement early intervention and support for the child and family. Standardized instruments for assessment in different contexts of behaviour problems, engagement and psychosocial health obtain an objective picture of the preschool child's mental health. AIM: To explore and compare parents', preschool teachers' and child health care psychologists' assessment of behaviour, everyday function, engagement, social interaction and psychosocial health in children with ESSENCE symptoms...
March 16, 2024: BMC Pediatrics
https://read.qxmd.com/read/38490949/deficits-in-olfactory-system-neurogenesis-in-neurodevelopmental-disorders
#38
REVIEW
Sean C Sweat, Claire E J Cheetham
The role of neurogenesis in neurodevelopmental disorders (NDDs) merits much attention. The complex process by which stem cells produce daughter cells that in turn differentiate into neurons, migrate various distances, and form synaptic connections that are then refined by neuronal activity or experience is integral to the development of the nervous system. Given the continued postnatal neurogenesis that occurs in the mammalian olfactory system, it provides an ideal model for understanding how disruptions in distinct stages of neurogenesis contribute to the pathophysiology of various NDDs...
April 2024: Genesis: the Journal of Genetics and Development
https://read.qxmd.com/read/38487272/neural-conditional-ablation-of-the-protein-tyrosine-phosphatase-receptor-delta-ptprd-impairs-gliogenesis-in-the-developing-mouse-brain-cortex
#39
JOURNAL ARTICLE
Francisca Cornejo, Nayhara Franchini, Bastián I Cortés, Daniela Elgueta, Gonzalo I Cancino
Neurodevelopmental disorders are characterized by alterations in the development of the cerebral cortex, including aberrant changes in the number and function of neural cells. Although neurogenesis is one of the most studied cellular processes in these pathologies, little evidence is known about glial development. Genetic association studies have identified several genes associated with neurodevelopmental disorders. Indeed, variations in the PTPRD gene have been associated with numerous brain disorders, including autism spectrum disorder, restless leg syndrome, and schizophrenia...
2024: Frontiers in Cell and Developmental Biology
https://read.qxmd.com/read/38485094/altered-neurological-and-neurobehavioral-phenotypes-in-a-mouse-model-of-the-recurrent-kcnb1-p-r306c-voltage-sensor-variant
#40
JOURNAL ARTICLE
Seok Kyu Kang, Nicole A Hawkins, Christopher H Thompson, Erin M Baker, Dennis M Echevarria-Cooper, Levi Barse, Tyler Thenstedt, Conor J Dixon, Nathan Speakes, Alfred L George, Jennifer A Kearney
Pathogenic variants in KCNB1 are associated with a neurodevelopmental disorder spectrum that includes global developmental delays, cognitive impairment, abnormal electroencephalogram (EEG) patterns, and epilepsy with variable age of onset and severity. Additionally, there are prominent behavioral disturbances, including hyperactivity, aggression, and features of autism spectrum disorder. The most frequently identified recurrent variant is KCNB1-p.R306C, a missense variant located within the S4 voltage-sensing transmembrane domain...
March 12, 2024: Neurobiology of Disease
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