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Neurodevelopmental Syndromes

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https://www.readbyqxmd.com/read/29784083/a-homozygous-loss-of-function-camk2a-mutation-causes-growth-delay-frequent-seizures-and-severe-intellectual-disability
#1
Poh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F Nelson, William H Xie, Samah Al-Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A Pouladi, Mohammed Al-Raqad, Bruno Reversade
Calcium/calmodulin-dependent protein kinase II (CAMK2) plays fundamental roles in synaptic plasticity that underlies learning and memory. Here, we describe a new recessive neurodevelopmental syndrome with global developmental delay, seizures and intellectual disability. Using linkage analysis and exome sequencing, we found that this disease maps to chromosome 5q31.1-q34 and is caused by a biallelic germline mutation in CAMK2A . The missense mutation, p.His477Tyr is located in the CAMK2A association domain that is critical for its function and localization...
May 22, 2018: ELife
https://www.readbyqxmd.com/read/29778428/status-dystonicus-due-to-missense-variant-in-arx-diagnosis-and-management
#2
Kathleen M Gorman, Heather Cary, Laura Gaffney, Eva Forman, Dympna Waldron, Fowzy Al-Delami, Bryan J Lynch, Mary D King, Nicholas M Allen
Movement disorders are increasingly identified in infantile encephalopathies due to single gene disorders (e.g. SCN2A, CDKL5, ARX). The associated movement disorder can be challenging to recognise and treat. We report a 2 year-old boy with a background history of Ohtahara syndrome due to a missense variant in ARX (the aristaless-related homeobox gene) who subsequently developed status dystonicus. ARX is a transcription factor that plays a critical role in cortical neuronal development and is associated with a range of important neurodevelopmental disorders depending on the site of the pathogenic variant...
May 3, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29774207/overview-of-social-cognitive-dysfunctions-in-rare-developmental-syndromes-with-psychiatric-phenotype
#3
REVIEW
Aurore Morel, Elodie Peyroux, Arnaud Leleu, Emilie Favre, Nicolas Franck, Caroline Demily
Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29773754/a-critical-neurodevelopmental-role-for-l-type-voltage-gated-calcium-channels-in-neurite-extension-and-radial-migration
#4
Satoshi Kamijo, Yuichiro Ishii, Shin-Ichiro Horigane, Kanzo Suzuki, Masamichi Ohkura, Junichi Nakai, Hajime Fujii, Sayaka Takemoto-Kimura, Haruhiko Bito
In spite of many association studies linking gene polymorphisms and mutations of L-type Voltage-Gated Ca2+ Channels (VGCC) in neurodevelopmental disorders, such as autism and schizophrenia, specific L-type VGCC roles during brain development remain unclear. Yet, calcium signaling has been shown to be essential for neurodevelopmental processes such as sculpting of neurites, functional wiring and fine tuning of growing networks. To bridge this gap, we performed submembraneous calcium imaging using a membrane-tethered genetically-encoded calcium indicator (GECI) Lck-G-CaMP7...
May 17, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29770459/identification-of-correlative-shifts-in-indices-of-brain-cholesterol-metabolism-in-the-c57bl6-mecp2-tm1-1bird-mouse-a-model-for-rett-syndrome
#5
Dieter Lütjohann, Adam M Lopez, Jen-Chieh Chuang, Anja Kerksiek, Stephen D Turley
Rett syndrome (RS) is a pervasive neurodevelopmental disorder resulting from loss-of-function mutations in the X-linked gene methyl-Cpg-binding protein 2 (MECP2). Using a well-defined model for RS, the C57BL6/Mecp2 tm1.1Bird mouse, we have previously found a moderate but persistently lower rate of cholesterol synthesis, measured in vivo, in the brains of Mecp2 -/y mice, starting from about the third week after birth. There was no genotypic difference in the total cholesterol concentration throughout the brain at any age...
May 17, 2018: Lipids
https://www.readbyqxmd.com/read/29769330/activity-dependent-aberrations-in-gene-expression-and-alternative-splicing-in-a-mouse-model-of-rett-syndrome
#6
Sivan Osenberg, Ariel Karten, Jialin Sun, Jin Li, Shaun Charkowick, Christy A Felice, Mary Kritzer, Minh Vu Chuong Nguyen, Peng Yu, Nurit Ballas
Rett syndrome (RTT) is a severe neurodevelopmental disorder that affects about 1 in 10,000 female live births. The underlying cause of RTT is mutations in the X-linked gene, methyl-CpG-binding-protein-2 ( MECP2 ); however, the molecular mechanism by which these mutations mediate the RTT neuropathology remains enigmatic. Specifically, although MeCP2 is known to act as a transcriptional repressor, analyses of the RTT brain at steady-state conditions detected numerous differentially expressed genes, while the changes in transcript levels were mostly subtle...
May 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29769041/cortical-atrophy-and-hypofibrinogenemia-due-to-fgg-and-tbcd-mutations-in-a-single-family-a-case-report
#7
Joshi Stephen, Sheela Nampoothiri, K P Vinayan, Dhanya Yesodharan, Preetha Remesh, William A Gahl, May Christine V Malicdan
BACKGROUND: Blended phenotypes or co-occurrence of independent phenotypically distinct conditions are extremely rare and are due to coincidence of multiple pathogenic mutations, especially due to consanguinity. Hereditary fibrinogen deficiencies result from mutations in the genes FGA, FGB, and FGG, encoding the three different polypeptide chains that comprise fibrinogen. Neurodevelopmental abnormalities have not been associated with fibrinogen deficiencies. In this study, we report an unusual patient with a combination of two independently inherited genetic conditions; fibrinogen deficiency and early onset cortical atrophy...
May 16, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29763648/autism-spectrum-disorder-classification-diagnosis-and-therapy
#8
REVIEW
Samata R Sharma, Xenia Gonda, Frank I Tarazi
Autism Spectrum Disorder (ASD) refers to a group of neurodevelopmental disorders including autism, Asperger's syndrome (AS) and pervasive developmental disorder-not otherwise specified (PDD-NOS). The new diagnostic criteria of ASD focuses on two core domains: social communication impairment and restricted interests/repetitive behaviors. The prevalence of ASD has been steadily increasing over the past two decades, with current estimates reaching up to 1 in 36 children. Hereditary factors, parental history of psychiatric disorders, pre-term births, and fetal exposure to psychotropic drugs or insecticides have all been linked to higher risk of ASD...
May 12, 2018: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/29759275/sleep-related-drug-therapy-in-special-conditions-children
#9
REVIEW
Nicholas-Tiberio Economou, Luigi Ferini-Strambi, Paschalis Steiropoulos
Sleep disorders in children may lead to neurodevelopmental and neurocognitive deficits; it is important to diagnose and treat them properly. Apart from the existing challenges in diagnosis, another drawback is that few therapies are currently approved. In this article, a comprehensive summary of the most common pediatric sleep disorders, along with the various pharmacologic and nonpharmacologic approaches for their management, is presented. Special attention has been paid to the currently available treatment options for pediatric insomnia, obstructive sleep apnea, parasomnias, narcolepsy, and restless legs syndrome, and comparisons are made with the corresponding treatment options for sleep disorders in adults...
June 2018: Sleep Medicine Clinics
https://www.readbyqxmd.com/read/29758375/alterations-in-the-microstructure-of-white-matter-in-children-and-adolescents-with-tourette-syndrome-measured-using-tract-based-spatial-statistics-and-probabilistic-tractography
#10
Hilmar P Sigurdsson, Sophia E Pépés, Georgina M Jackson, Amelia Draper, Paul S Morgan, Stephen R Jackson
Tourette syndrome (TS) is a neurodevelopmental disorder characterised by repetitive and intermittent motor and vocal tics. TS is thought to reflect fronto-striatal dysfunction and the aetiology of the disorder has been linked to widespread alterations in the functional and structural integrity of the brain. The aim of this study was to assess white matter (WM) abnormalities in a large sample of young patients with TS in comparison to a sample of matched typically developing control individuals (CS) using diffusion MRI...
April 12, 2018: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/29758293/tle1-a-key-player-in-neurogenesis-a-new-candidate-gene-for-autosomal-recessive-postnatal-microcephaly
#11
Mara Cavallin, Camille Maillard, Marie Hully, Marion Philbert, Nathalie Boddaert, Madeline Louise Reilly, Patrick Nitschké, Amandine Bery, Nadia Bahi-Buisson
Postnatal microcephaly comprises a heterogeneous group of neurodevelopmental disorders of varying severity, characterized by normal head size at birth, followed by a postnatal deceleration in head circumference of greater than 3 standard deviations (SD) below the mean. Many postnatal microcephaly syndromes are caused by mutations in genes known to be important for the regulation of gene expression in the developing forebrain. We studied a consanguineous Pakistani family with postnatal microcephaly, orofacial dyskinesia, spastic quadriplegia and, on MRI, cortical atrophy with myelination delay, suggestive of a FOXG1-like presentation...
May 11, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29758264/anti-il17-treatment-ameliorates-down-syndrome-phenotypes-in-mice
#12
Noemí Rueda, Verónica Vidal, Susana García-Cerro, Josep Oriol Narcís, María Llorens-Martín, Andrea Corrales, Sara Lantigua, Marcos Iglesias, Jesús Merino, Ramón Merino, Carmen Martínez-Cué
Down syndrome (DS) is characterized by structural and functional anomalies that are present prenatally and that lead to intellectual disabilities. Later in life, the cognitive abilities of DS individuals progressively deteriorate due to the development of Alzheimer's disease (AD)-associated neuropathology (i.e., β-amyloid (Aβ) plaques, neurofibrillary tangles (NFTs), neurodegeneration, synaptic pathology, neuroinflammation and increased oxidative stress). Increasing evidence has shown that among these pathological processes, neuroinflammation plays a predominant role in AD etiopathology...
May 11, 2018: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29758257/a-mechanistic-review-on-gnao1-associated-movement-disorder
#13
REVIEW
Huijie Feng, Suad Khalil, Richard R Neubig, Christos Sidiropoulos
Mutations in the GNAO1 gene cause a complex constellation of neurological disorders including epilepsy, developmental delay, and movement disorders. GNAO1 encodes Gαo , the α subunit of Go , a member of the Gi/o family of heterotrimeric G protein signal transducers. Go is the most abundant membrane protein in the mammalian central nervous system and plays major roles in synaptic neurotransmission and neurodevelopment. GNAO1 mutations were first reported in early infantile epileptic encephalopathy 17 (EIEE17) but are also associated with a more common syndrome termed neurodevelopmental disorder with involuntary movements (NEDIM)...
May 11, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29753921/de-novo-loss-of-function-variants-of-ash1l-are-associated-with-an-emergent-neurodevelopmental-disorder
#14
Wei Shen, Patti Krautscheid, Audrey M Rutz, Pinar Bayrak-Toydemir, Sarah L Dugan
De novo variants of ASH1L, which encodes a histone methyltransferase, have been reported in a few patients with intellectual disability and autistic features. Here, we identified a novel de novo frame-shift variant, c.2422_2423delAAinsT which predicts p.(Lys808TyrfsTer40), in ASH1L in a patient with multiple congenital anomalies (MCA), fine motor developmental delay, learning difficulties, attention deficit hyperactivity disorder, sleep apnea, and scoliosis. This frame-shift variant is expected to result in loss-of-function...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29752575/expression-pattern-of-cdkl5-during-zebrafish-early-development-implications-for-use-as-model-for-atypical-rett-syndrome
#15
Marta Vitorino, Nídia Cunha, Natércia Conceição, M Leonor Cancela
Atypical Rett syndrome is a child neurodevelopmental disorder induced by mutations in CDKL5 gene and characterized by a progressive regression in development with loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability. At the moment, there is no cure for this pathology and little information is available concerning animal models capable of mimicking its phenotypes, thus the development of additional animal models should be of interest to gain more knowledge about the disease...
May 11, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29751845/beneath-the-floor-re-analysis-of-neurodevelopmental-outcomes-in-untreated-hurler-syndrome
#16
Elsa G Shapiro, Chester B Whitley, Julie B Eisengart
BACKGROUND: Hurler syndrome (MPS IH), the severe, neurodegenerative form of type one mucopolysaccharidosis, is associated with rapid neurocognitive decline during toddlerhood and multi-system dysfunction. It is now standardly treated with hematopoietic cell transplantation (HCT), which halts accumulating disease pathology and prevents early death. While norm-based data on developmental functioning in untreated children have previously demonstrated neurocognitive decline, advances in methodology for understanding the cognitive functioning of children with neurodegenerative diseases have highlighted that the previous choice of scores to report results was not ideal...
May 11, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29749240/why-is-it-necessary-to-examine-retina-when-the-patient-suffers-from-aplastic-anemia
#17
D Tomcikova, A Gerinec, B Busanyova, M Gresikova, S Biskup, K Hortnagel
PURPOSES: To inform about a case of Revesz syndrome (RS) with initial ophthalmological symptomatology of severe proliferative vitreoretinopathy of the left eye (LE). After the aplastic anemia had developed, RS was established. The exudative retinopathy was successfully treated with photocoagulation on the right eye (RE). BACKGROUND: RS is characterized by fatal bone marrow failure, exudative retinopathy, neuroradiographic abnormalities, neurodevelopmental delay and skin abnormalities...
2018: Bratislavské Lekárske Listy
https://www.readbyqxmd.com/read/29748952/disentangling-tourette-syndrome-heterogeneity-through-hierarchical-ascendant-clustering
#18
Elena Cravedi, Emmanuelle Deniau, Marianna Giannitelli, Hugues Pellerin, Virginie Czernecki, Tiphanie Priou, Jean Xavier, Angèle Consoli, Andreas Hartmann, David Cohen
AIM: To explore the heterogeneity of Tourette syndrome as part of a neurodevelopmental spectrum. METHOD: Using hierarchical ascendant clustering based on tic symptoms, developmental milestones, and neurodevelopmental comorbidities, we analyzed the heterogeneity of Tourette syndrome phenotypes in a sample of 174 children and adolescents with Tourette syndrome referred to a tertiary university clinic. RESULTS: The model yielded three distinct clusters characterized as follows...
May 10, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29748850/from-aggression-to-autism-new-perspectives-on-the-behavioral-sequelae-of-monoamine-oxidase-deficiency
#19
REVIEW
Marco Bortolato, Gabriele Floris, Jean C Shih
The two monoamine oxidase (MAO) enzymes, A and B, catalyze the metabolism of monoamine neurotransmitters, such as serotonin, norepinephrine, and dopamine. The phenotypic outcomes of MAO congenital deficiency have been studied in humans and animal models, to explore the role of these enzymes in behavioral regulation. The clinical condition caused by MAOA deficiency, Brunner syndrome, was first described as a disorder characterized by overt antisocial and aggressive conduct. Building on this discovery, subsequent studies were focused on the characterization of the role of MAOA in the neurobiology of antisocial conduct...
May 10, 2018: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29744390/stage-1-registered-report-variation-in-neurodevelopmental-outcomes-in-children-with-sex-chromosome-trisomies-protocol-for-a-test-of-the-double-hit-hypothesis
#20
Dianne F Newbury, Nuala H Simpson, Paul A Thompson, Dorothy V M Bishop
Background : The presence of an extra sex chromosome is associated with an increased rate of neurodevelopmental difficulties involving language. Group averages, however, obscure a wide range of outcomes. Hypothesis: The 'double hit' hypothesis proposes that the adverse impact of the extra sex chromosome is amplified when genes that are expressed from the sex chromosomes interact with autosomal variants that usually have only mild effects. Neuroligin-4 genes are expressed from X and Y chromosomes; they play an important role in synaptic development and have been implicated in neurodevelopment...
2018: Wellcome Open Research
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