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Neurodevelopmental disorders

Antonella Sferra, Fabiana Fattori, Teresa Rizza, Elsabetta Flex, Emanuele Bellacchio, Alessandro Bruselles, Stefania Petrini, Serena Cecchetti, Massimo Teson, Fabrizia Restaldi, Andrea Ciolfi, Filippo M Santorelli, Ginevra Zanni, Sabina Barresi, Claudia Castiglioni, Marco Tartaglia, Enrico Bertini
Microtubules participate in fundamental cellular processes, including chromosomal segregation and cell division, migration, and intracellular trafficking. Their proper function is required for correct central nervous system development and operative preservation, and mutations in genes coding tubulins, the constituting units of microtubules, underlie a family of neurodevelopmental and neurodegenerative diseases, collectively known as "tubulinopathies", characterized by a wide range of neuronal defects resulting from defective proliferation, migration, and function...
March 14, 2018: Human Molecular Genetics
Yasodha Maheshi Rohanachandra, Shamini Prathapan, Gampolage Swarna Wijetunge
INTRODUCTION: Maternal depression has been shown to be associated with neurodevelopmental, emotional and behavioural disorders in offspring. We aimed to describe the proportion of psychological problems among children of mothers with depression in Sri Lanka and to describe the association with the characteristics of the mothers' illness. METHODS: A cross-sectional descriptive study was conducted on 100 children and adolescents between 4-16 years whose mother has a diagnosis of depression and currently in remission...
March 3, 2018: Asian Journal of Psychiatry
Giancarlo Giupponi, Gloria Giordano, Ignazio Maniscalco, Denise Erbuto, Isabella Berardelli, Andreas Conca, David Lester, Paolo Girardi, Maurizio Pompili
BACKGROUND: ADHD (Attention-deficit/hyperactivity disorder) is a common neurodevelopmental disorder that manifests itself during childhood with various combinations of symptoms, including inattention, hyperactivity and impulsivity. Research has shown that psychiatric comorbidities play an important role in the development of suicidal behavior and, recently, there has been a growing interest in a possible association between ADHD and suicide during both childhood and adulthood. Furthermore, some authors have shown a relationship between pharmacological treatments and suicide in patients affected by ADHD...
March 2018: Psychiatria Danubina
Christopher B Forrest, Lisa J Meltzer, Carole L Marcus, Anna de la Motte, Amy Kratchman, Daniel J Buysse, Paul A Pilkonis, Brandon D Becker, Katherine B Bevans
Study Objectives: To develop and evaluate the measurement properties of child-report and parent-proxy versions of the PROMIS ® Pediatric Sleep Disturbance and Sleep-Related Impairment item banks. Methods: A national sample of 1,104 children (8-17 years-old) and 1,477 parents of children 5-17 years-old was recruited from an internet panel to evaluate the psychometric properties of 43 sleep health items. A convenience sample of children and parents recruited from a pediatric sleep clinic was obtained to provide evidence of the measures' validity; polysomnography data were collected from a subgroup of these children...
March 13, 2018: Sleep
L Zimmer, P Fourneret
Methylphenidate (MPH) remains the only accessible psychostimulant used in France in the attention and behavior disturbances of attention deficit disorder with or without hyperactivity (ADHD). Its prescription has been extended during the past decade to other neurodevelopmental disorders in children and adolescents, also associated with a deficit of attentional resources or, more broadly, fragility of executive functions. Despite its efficiency, validated by more than 400 randomized controlled and double-blind studies, and the good tolerance of MPH in these indications, this treatment remains limited in France because of many fears and other prejudices on the part of medical practitioners and/or families...
March 12, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Kotaro Yuge, Kazuhiro Iwama, Chihiro Yonee, Mayumi Matsufuji, Nozomi Sano, Tomoko Saikusa, Yukako Yae, Yushiro Yamashita, Takeshi Mizuguchi, Naomichi Matsumoto, Toyojiro Matsuishi
Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by mutations in Methyl-CpG-binding protein 2 (MECP2); however, mutations in various other genes may lead to RTT-like phenotypes. Here, we report the first case of a Japanese girl with RTT caused by a novel syntaxin-binding protein 1 (STXBP1) frameshift mutation (c.60delG, p.Lys21Argfs*16). She showed epilepsy at one year of age, regression of acquired psychomotor abilities thereafter, and exhibited stereotypic hand and limb movements at 3 years of age...
March 12, 2018: Brain & Development
Harshini Manohar, Pooja Patnaik Kuppili, Preeti Kandasamy, Venkatesh Chandrasekaran, Ravi Philip Rajkumar
BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder commonly associated with Attention Deficit Hyperactivity Disorder (ADHD), the prevalence ranging from 14-70%. The current study attempted to assess the impact of comorbid ADHD in children with ASD, in terms of challenges in diagnosis, treatment, intervention outcomes and parental stress and coping through a naturalistic design. METHODS: Fifty children aged 2-6 years with ASD were recruited, assessed and followed up for six months...
March 2, 2018: Asian Journal of Psychiatry
Zachary Niday, Anastasios V Tzingounis
Exome and targeted sequencing have revolutionized clinical diagnosis. This has been particularly striking in epilepsy and neurodevelopmental disorders, for which new genes or new variants of preexisting candidate genes are being continuously identified at increasing rates every year. A surprising finding of these efforts is the recognition that gain of function potassium channel variants are actually associated with certain types of epilepsy, such as malignant migrating partial seizures of infancy or early-onset epileptic encephalopathy...
March 1, 2018: Neuroscientist: a Review Journal Bringing Neurobiology, Neurology and Psychiatry
John J Marshall, Jian Xu, Anis Contractor
Kainate receptors are members of the glutamate receptor family that function both by generating ionotropic currents through an integral ion channel pore, and through coupling to downstream metabotropic signaling pathways. They are highly expressed in the striatum yet their roles in regulating striatal synapses are not known. Using mice of both sexes we demonstrate that GluK2 containing kainate receptors expressed in direct pathway Spiny Projection Neurons (dSPNs) inhibit glutamate release at corticostriatal synapses in the dorsolateral striatum...
March 14, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Kedarlal Sharma, JuhiSingh, Emma E Frost, Prakash P Pillai
MethylCpG binding protein-2 (MeCP2) is an epigenetic regulator and essential for brain development.MeCP2 mutations are associated with a spectrum of neuro-developmental disorders that vary depending on the patient gender, most notably Rett Syndrome. MeCP2 is essential for normal neuronal maturation, and glial cell function in the brain. Besides, its role in neurodevelopmental disorders, MeCP2 is involved in many cancers such as breast, colorectal, lung, liver, and prostate cancer. Glioma is the most lethal form of brain cancer...
March 11, 2018: Neuroscience Letters
Ping-Tao Tseng, Yu-Shian Cheng, Yen-Wen Chen, Brendon Stubbs, Paul Whiteley, Andre F Carvalho, Dian-Jeng Li, Tien-Yu Chen, Wei-Cheng Yang, Chia-Hung Tang, Che-Sheng Chu, Wei-Chieh Yang, Hsin-Yi Liang, Ching-Kuan Wu, Cheng-Fang Yen, Pao-Yen Lin
Autism spectrum disorder (ASD) is a common neurodevelopmental disorder, and nutritional deficiency may play a role in the development of ASD. A relationship between ASD and iron levels/iron deficiency (ID) has been reported; however, the results have been inconsistent. Therefore, we conducted this meta-analysis to examine the relationship between ASD and ID following the Meta-Analysis of Observational Studies in Epidemiology guidelines. We performed a systematic search of PubMed, ScienceDirect, Embase, ProQuest, ClinicalTrials...
February 2018: Nutrition Research
Suijuan Zhong, Shu Zhang, Xiaoying Fan, Qian Wu, Liying Yan, Ji Dong, Haofeng Zhang, Long Li, Le Sun, Na Pan, Xiaohui Xu, Fuchou Tang, Jun Zhang, Jie Qiao, Xiaoqun Wang
The mammalian prefrontal cortex comprises a set of highly specialized brain areas containing billions of cells and serves as the centre of the highest-order cognitive functions, such as memory, cognitive ability, decision-making and social behaviour. Although neural circuits are formed in the late stages of human embryonic development and even after birth, diverse classes of functional cells are generated and migrate to the appropriate locations earlier in development. Dysfunction of the prefrontal cortex contributes to cognitive deficits and the majority of neurodevelopmental disorders; there is therefore a need for detailed knowledge of the development of the prefrontal cortex...
March 14, 2018: Nature
Julia F Litzky, Maya A Deyssenroth, Todd M Everson, Barry M Lester, Luca Lambertini, Jia Chen, Carmen J Marsit
BACKGROUND: Depression and/or anxiety during pregnancy have been associated with impaired fetal growth and neurodevelopmental. Because placental imprinted genes play a central role in fetal development and respond to environmental stressors, we hypothesized that imprinted gene expression would be affected by prenatal depression and anxiety. METHODS: Placental gene expression was compared between mothers with prenatal depression and/or anxiety/obsessive compulsive disorder/panic and control mothers without psychiatric history (n=458) in the Rhode Island Child Health Study...
March 14, 2018: Pediatric Research
Rebecca J Landa
With advances in the field's ability to identify autism spectrum disorders (ASD) at younger ages, the need for information about the evidence-base for early intervention continues to rise. This review of the ASD early intervention (EI) literature focuses on efficacy studies published within the past 15 years. The neurodevelopmental context for early intervention, timing of initiating intervention, primary intervention approaches, and predictors of treatment outcomes are discussed. The evidence indicates that young children with ASD benefit from EI, and their parents learn to implement child-responsive engagement strategies when a parent-coaching intervention is provided...
March 14, 2018: International Review of Psychiatry
Kylie D Rock, Heather B Patisaul
PURPOSE OF REVIEW: With the incidence of neurodevelopmental disorders on the rise, it is imperative to identify and understand the mechanisms by which environmental contaminants can impact the developing brain and heighten risk. Here, we report on recent findings regarding novel mechanisms of developmental neurotoxicity and highlight chemicals of concern, beyond traditionally defined neurotoxicants. RECENT FINDINGS: The perinatal window represents a critical and extremely vulnerable period of time during which chemical insult can alter the morphological and functional trajectory of the developing brain...
March 13, 2018: Current Environmental Health Reports
Laurel J Gabard-Durnam, Adriana S Mendez Leal, Carol L Wilkinson, April R Levin
Electroenchephalography (EEG) recordings collected with developmental populations present particular challenges from a data processing perspective. These EEGs have a high degree of artifact contamination and often short recording lengths. As both sample sizes and EEG channel densities increase, traditional processing approaches like manual data rejection are becoming unsustainable. Moreover, such subjective approaches preclude standardized metrics of data quality, despite the heightened importance of such measures for EEGs with high rates of initial artifact contamination...
2018: Frontiers in Neuroscience
Saki Hirofuji, Yuta Hirofuji, Hiroki Kato, Keiji Masuda, Haruyoshi Yamaza, Hiroshi Sato, Fumiko Takayama, Michiko Torio, Yasunari Sakai, Shouichi Ohga, Tomoaki Taguchi, Kazuaki Nonaka
Rett syndrome is an X-linked neurodevelopmental disorder associated with psychomotor impairments, autonomic dysfunctions and autism. Patients with Rett syndrome have loss-of-function mutations in MECP2, the gene encoding methyl-CpG-binding protein 2 (MeCP2). Abnormal biogenic amine signaling and mitochondrial function have been found in patients with Rett syndrome; however, few studies have analyzed the association between these factors. This study investigated the functional relationships between mitochondria and the neuronal differentiation of the MeCP2-deficient stem cells from the exfoliated deciduous teeth of a child with Rett syndrome...
March 10, 2018: Biochemical and Biophysical Research Communications
Mitsuko Nakashima, Mitsuhiro Kato, Kazushi Aoto, Masaaki Shiina, Hazrat Belal, Souichi Mukaida, Satoko Kumada, Atsushi Sato, Ayelet Zerem, Tally Lerman-Sagie, Dorit Lev, Huey Yin Leong, Yoshinori Tsurusaki, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Kazuhiro Ogata, Hirotomo Saitsu, Naomichi Matsumoto
OBJECTIVE: The cytoplasmic fragile X mental retardation 1 interacting proteins 2 (CYFIP2) is a component of the WAVE regulatory complex, which is involved in actin dynamics. An obvious association of CYFIP2 variants with human neurological disorders has never been reported. Here, we identified de novo hotspot CYFIP2 variants in neurodevelopmental disorders and explore the possible involvement of the CYFIP2 mutants in the WAVE signaling pathway. METHODS: We performed trio-based whole exome sequencing (WES) in 210 families and case-only WES in 489 individuals with epileptic encephalopathies...
March 13, 2018: Annals of Neurology
Qiong Wu, Christina Dalman, Håkan Karlsson, Glyn Lewis, David P J Osborn, Renee Gardner, Joseph F Hayes
Background: Mounting evidence implicates early life and prenatal immune disturbances in the etiology of severe mental illnesses. Asthma is a common illness associated with chronic aberrant immune responses. We aimed to determine if asthma in childhood and parents is associated with bipolar and schizophrenia spectrum disorders. Methods: A cohort study including all children born in Sweden 1973-1995 (N > 2 million) assessing associations between childhood hospitalization for asthma, parental asthma during and pre-pregnancy, and subsequent bipolar and schizophrenia spectrum disorders...
March 9, 2018: Schizophrenia Bulletin
Mehdi Zarrei, Geoffrey G Hicks, James N Reynolds, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Molly Pind, Sylvia Lamoureux, John Wei, Zhouzhi Wang, Christian R Marshall, Richard F Wintle, Albert E Chudley, Stephen W Scherer
Fetal alcohol spectrum disorder (FASD) is characterized by a combination of neurological, developmental, and congenital defects that may occur as a consequence of prenatal alcohol exposure. Earlier reports showed that large chromosomal anomalies may link to FASD. Here, we examined the prevalence and types of copy number variations (CNVs) in FASD cases previously diagnosed by a multidisciplinary FASD team in sites across Canada. We genotyped 95 children with FASD and 87 age-matched, typically developing controls on the Illumina Human Omni2...
March 13, 2018: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
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