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Neurodevelopmental disorders

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https://www.readbyqxmd.com/read/28730732/shared-atypical-default-mode-and-salience-network-functional-connectivity-between-autism-and-schizophrenia
#1
Heng Chen, Lucina Q Uddin, Xujun Duan, Junjie Zheng, Zhiliang Long, Youxue Zhang, Xiaonan Guo, Yan Zhang, Jingping Zhao, Huafu Chen
Schizophrenia and autism spectrum disorder (ASD) are two prevalent neurodevelopmental disorders sharing some similar genetic basis and clinical features. The extent to which they share common neural substrates remains unclear. Resting-state fMRI data were collected from 35 drug-naïve adolescent participants with first-episode schizophrenia (15.6 ± 1.8 years old) and 31 healthy controls (15.4 ± 1.6 years old). Data from 22 participants with ASD (13.1 ± 3.1 years old) and 21 healthy controls (12...
July 21, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28729328/comparative-safety-of-antiepileptic-drugs-for-neurological-development-in-children-exposed-during-pregnancy-and-breast-feeding-a-systematic-review-and-network-meta-analysis
#2
Areti Angeliki Veroniki, Patricia Rios, Elise Cogo, Sharon E Straus, Yaron Finkelstein, Ryan Kealey, Emily Reynen, Charlene Soobiah, Kednapa Thavorn, Brian Hutton, Brenda R Hemmelgarn, Fatemeh Yazdi, Jennifer D'Souza, Heather MacDonald, Andrea C Tricco
OBJECTIVES: Compare the safety of antiepileptic drugs (AEDs) on neurodevelopment of infants/children exposed in utero or during breast feeding. DESIGN AND SETTING: Systematic review and Bayesian random-effects network meta-analysis (NMA). MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials were searched until 27 April 2017. Screening, data abstraction and quality appraisal were completed in duplicate by independent reviewers. PARTICIPANTS: 29 cohort studies including 5100 infants/children...
July 20, 2017: BMJ Open
https://www.readbyqxmd.com/read/28728761/predictors-of-co-occurring-neurodevelopmental-disabilities-in-children-with-autism-spectrum-disorders
#3
Lauren Head Zauche, Ashley E Darcy Mahoney, Melinda K Higgins
PURPOSE: Co-occurring neurodevelopmental disabilities (including cognitive and language delays and attention deficit hyperactivity disorder) affect over half of children with ASD and may affect later behavioral, language, and cognitive outcomes beyond the ASD diagnosis. However, no studies have examined predictors of co-occurring neurodevelopmental disabilities in children with ASD. This study investigated whether maternal sociodemographic, perinatal and neonatal factors are associated with co-occurring disabilities...
July 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28727687/hippocampus-dependent-memory-and-allele-specific-gene-expression-in-adult-offspring-of-alcohol-consuming-dams-after-neonatal-treatment-with-thyroxin-or-metformin
#4
E Tunc-Ozcan, S L Wert, P H Lim, A Ferreira, E E Redei
Fetal alcohol spectrum disorder (FASD), the result of fetal alcohol exposure (FAE), affects 2-11% of children worldwide, with no effective treatments. Hippocampus-based learning and memory deficits are key symptoms of FASD. Our previous studies show hypothyroxinemia and hyperglycemia of the alcohol-consuming pregnant rat, which likely affects fetal neurodevelopment. We administered vehicle, thyroxine (T4) or metformin to neonatal rats post FAE and rats were tested in the hippocampus-dependent contextual fear-conditioning paradigm in adulthood...
July 20, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28727685/erbb4-signaling-in-dopaminergic-axonal-projections-increases-extracellular-dopamine-levels-and-regulates-spatial-working-memory-behaviors
#5
M Skirzewski, I Karavanova, A Shamir, L Erben, J Garcia-Olivares, J H Shin, D Vullhorst, V A Alvarez, S G Amara, A Buonanno
Genetic variants of Neuregulin 1 (NRG1) and its neuronal tyrosine kinase receptor ErbB4 are associated with risk for schizophrenia, a neurodevelopmental disorder characterized by excitatory/inhibitory imbalance and dopamine (DA) dysfunction. To date, most ErbB4 studies have focused on GABAergic interneurons in the hippocampus and neocortex, particularly fast-spiking parvalbumin-positive (PV+) basket cells. However, NRG has also been shown to modulate DA levels, suggesting a role for ErbB4 signaling in dopaminergic neuron function...
July 20, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28727482/atypical-preference-for-infant-directed-speech-as-an-early-marker-of-autism-spectrum-disorders-a-literature-review-and-directions-for-further-research
#6
Marisa G Filipe, Linda Watson, Selene G Vicente, Sónia Frota
Autism spectrum disorders (ASD) refer to a complex group of neurodevelopmental disorders causing difficulties with communication and interpersonal relationships, as well as restricted and repetitive behaviours and interests. As early identification, diagnosis, and intervention provide better long-term outcomes, early markers of ASD have gained increased research attention. This review examines evidence that auditory processing enhanced by social interest, in particular auditory preference of speech directed towards infants and young children (i...
July 20, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28724449/novel-promoters-and-coding-first-exons-in-dlg2-linked-to-developmental-disorders-and-intellectual-disability
#7
Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Nicolas Lufin, Marie-Claude Addor, Elga Fabia Belligni, Maria Cristina Digilio, Flavio Faletra, Giovanni Battista Ferrero, Marion Gerard, Bertrand Isidor, Shelagh Joss, Florence Niel-Bütschi, Maria Dolores Perrone, Florence Petit, Alessandra Renieri, Serge Romana, Alexandra Topa, Joris Robert Vermeesch, Tom Lenaerts, Georges Casimir, Marc Abramowicz, Gianluca Bontempi, Catheline Vilain, Nicolas Deconinck, Guillaume Smits
BACKGROUND: Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. METHODS: Two pediatric patients with global developmental delay and intellectual disability phenotype underwent array-CGH genetic testing, both showing a partial deletion of the DLG2 gene. From independent human and murine omics datasets, we combined copy number variations, histone modifications, developmental tissue-specific regulation, and protein data to explore the molecular mechanism at play...
July 19, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28724385/increase-of-cytosolic-phospholipase-a2-as-hydrolytic-enzyme-of-phospholipids-and-autism-cognitive-social-and-sensory-dysfunction-severity
#8
Hanan Qasem, Laila Al-Ayadhi, Hussain Al Dera, Afaf El-Ansary
BACKGROUND: Autism is neurodevelopmental disorder that is characterized by developmental, behavioral, social and sensory abnormalities. Researchers have focused in last years in immunological alteration and inflammation as a hot subject in autism field. This work aims to study the alteration in phospholipids (PE, PS, and PC) together with the change in cPLA2 concentration as the main phospholipid hydrolytic enzyme in autistic patients compared to control. It was also extended to find a correlation between these biomarkers and severity of autism measured as childhood autism rating scale (CARS), Social responsiveness scale (SRS), and Short sensory profile (SSP)...
June 15, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28723825/feasibility-of-conducting-autism-biomarker-research-in-the-clinical-setting
#9
Laura Sices, Katherine Pawlowski, Laura Farfel, Deirdre Phillips, Yamini Howe, David M Cochran, Roula Choueiri, Peter W Forbes, Stephanie J Brewster, Jean A Frazier, Ann Neumeyer, Carolyn Bridgemohan
OBJECTIVE: Recruitment and completion of research activities during regular clinical care has the potential to increase research participation in complex neurodevelopmental disorders. We evaluated the feasibility, and effect on clinical care, of conducting biomarker research within a subspecialty clinical visit for autism spectrum disorder (ASD). METHODS: Children, aged 5 to 10 years, were recruited by providers in ASD clinics at 5 institutions. Biomarkers collected were growth measurements, head circumference, neurologic and dysmorphology examinations, digit ratio (2D:4D) measurement, and platelet serotonin and urinary melatonin sulfate excretion levels...
July 14, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28722160/placental-proteomics-reveal-insights-into-fetal-alcohol-spectrum-disorders
#10
Katie L Davis-Anderson, Sebastian Berger, Emilie R Lunde-Young, Vishal D Naik, Heewon Seo, Greg A Johnson, Hanno Steen, Jayanth Ramadoss
Fetal alcohol spectrum disorders (FASD) describe many of the well-known neurodevelopmental deficits afflicting children exposed to alcohol in utero. The effects of alcohol on the maternal-fetal interface, especially the placenta, have been less explored. We herein hypothesized that chronic binge alcohol exposure during pregnancy significantly alters the placental protein profile in a rat FASD model METHODS: Pregnant rats were orogastrically treated daily with alcohol (4.5 g/kg, gestational day (GD) 5-10; 6...
July 19, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28721829/ngs-technologies-as-a-turning-point-in-rare-disease-research-diagnosis-and-treatment
#11
Ana Fernández-Marmiesse, Sofía Gouveia, María L Couce
Approximately 25-50 million Americans, 30 million Europeans, and 8% of the Australian population have a rare disease. Rare diseases are thus a common problem for clinicians and account for enormous healthcare costs worldwide due to the difficulty of establishing a specific diagnosis. In this article we review the milestones achieved in our understanding of rare diseases since the emergence of next-generation sequencing (NGS) technologies and analyze how these advances have influenced research and diagnosis...
July 18, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28720891/whole-exome-sequencing-reveals-inherited-and-de-novo-variants-in-autism-spectrum-disorder-a-trio-study-from-saudi-families
#12
Bashayer Al-Mubarak, Mohamed Abouelhoda, Aisha Omar, Hesham AlDhalaan, Mohammed Aldosari, Michael Nester, Hussain A Alshamrani, Mohamed El-Kalioby, Ewa Goljan, Renad Albar, Shazia Subhani, Asma Tahir, Sultana Asfahani, Alaa Eskandrani, Ahmed Almusaiab, Amna Magrashi, Jameela Shinwari, Dorota Monies, Nada Al Tassan
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic and clinical heterogeneity. The interplay of de novo and inherited rare variants has been suspected in the development of ASD. Here, we applied whole exome sequencing (WES) on 19 trios from singleton Saudi families with ASD. We developed an analysis pipeline that allows capturing both de novo and inherited rare variants predicted to be deleterious. A total of 47 unique rare variants were detected in 17 trios including 38 which are newly discovered...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#13
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28719506/zika-virus-associated-ocular-and-neurologic-disorders-the-emergence-of-new-evidence
#14
Fatih Şahiner, Ali Korhan Siğ, Ümit Savaşçi, Kemal Tekin, Fahrettin Akay
BACKGROUND: It has been approximately 70 years since the discovery of the Zika virus (ZIKV). It had been established that the virus causes mild infections, and is confined to Africa and Asia; however, major changes in the clinical and epidemiologic patterns of ZIKV infection have occurred in recent years. The virus has attracted intense interest because of the possible association of several autoimmune and neurodevelopmental disorders. METHODS: We present a summary of the articles that attempt to explain the ZIKV unknowns, and strengthen the association with some disorders that are thought to be related to ZIKV, by describing the discovery milestones from the initial identification of the virus to the present day...
July 13, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28719389/genetic-contribution-to-neurodevelopmental-outcomes-in-congenital-heart-disease-are-some-patients-predetermined-to-have-developmental-delay
#15
Caitlin K Rollins, Jane W Newburger, Amy E Roberts
PURPOSE OF REVIEW: Neurodevelopmental impairment is common in children with moderate to severe congenital heart disease (CHD). As children live longer and healthier lives, research has focused on identifying causes of neurodevelopmental morbidity that significantly impact long-term quality of life. This review will address the role of genetic factors in predicting neurodevelopmental outcome in CHD. RECENT FINDINGS: A robust literature suggests that among children with various forms of CHD, those with known genetic/extracardiac anomalies are at highest risk of neurodevelopmental impairment...
July 14, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28719141/neonatal-infection-produces-significant-changes-in-immune-function-with-no-associated-learning-deficits-in-juvenile-rats
#16
Brittany F Osborne, Jasmine I Caulfield, Samantha A Solomotis, Jaclyn M Schwarz
The current experiments examined the impact of early-life immune activation and a subsequent mild immune challenge with lipopolysaccharide (LPS; 25µg/kg) on hippocampal-dependent learning, proinflammatory cytokine expression in the brain, and peripheral immune function in juvenile male and female rats at P24, an age when hippocampal-dependent learning and memory first emerges. Our results indicate that neonatal infection did not produce learning deficits in the hippocampal-dependent context pre-exposure facilitation effect (CPFE) paradigm in juvenile males and females, contrary to what has been observed in adults...
July 18, 2017: Developmental Neurobiology
https://www.readbyqxmd.com/read/28717667/haploinsufficiency-of-bcl11a-associated-with-cerebellar-abnormalities-in-2p15p16-1-deletion-syndrome
#17
Hiroko Shimbo, Takayuki Yokoi, Noriko Aida, Seiji Mizuno, Hiroshi Suzumura, Junichi Nagai, Kazumi Ida, Yumi Enomoto, Chihiro Hatano, Kenji Kurosawa
BACKGROUND: Chromosome 2p15p16.1 deletion syndrome is a rare genetic disorder characterized by intellectual disability (ID), neurodevelopmental delay, language delay, growth retardation, microcephaly, structural brain abnormalities, and dysmorphic features. More than 30 patients with 2p15p16.1 microdeletion syndrome have been reported in the literature. METHODS: Molecular analysis was performed using microarray-based comparative genomic hybridization (array CGH)...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28716727/systematic-review-and-meta-analysis-links-autism-and-toxic-metals-and-highlights-the-impact-of-country-development-status-higher-blood-and-erythrocyte-levels-for-mercury-and-lead-and-higher-hair-antimony-cadmium-lead-and-mercury
#18
REVIEW
Amene Saghazadeh, Nima Rezaei
BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental disorder that affects cognitive and higher cognitive functions. Increasing prevalence of ASD and high rates of related comorbidities has caused serious health loss and placed an onerous burden on the supporting families, caregivers, and health care services. Heavy metals are among environmental factors that may contribute to ASD. However, due to inconsistencies across studies, it is still hard to explain the association between ASD and toxic metals...
July 14, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
https://www.readbyqxmd.com/read/28716012/case-reports-of-juvenile-gm1-gangliosidosisis-type-ii-caused-by-mutation-in-glb1-gene
#19
Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi
BACKGROUND: Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly. The disease is characterized by slowly progressive neurodegeneration and mild skeletal changes. Due to the later age of onset and uncharacteristic presentation, diagnosis is frequently puzzled with other ataxic and purely neurological disorders. Up to now, 3-4 types of GM1-gangliosidosis have been reported and among them type I is the most common phenotype with the age of onset around 6 months...
July 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28715127/increased-aggression-and-lack-of-maternal-behavior-in-dio3-deficient-mice-are-associated-with-abnormalities-in-oxytocin-and-vasopressin-systems
#20
J Patrizia Stohn, M Elena Martinez, Maryam Zafer, Daniela López-Espíndola, Lauren M Keyes, Arturo Hernandez
Thyroid hormones regulate many aspects of brain development and function, and alterations in the levels of thyroid hormone action lead to abnormal anxiety- and depression-like behaviors. A complement of factors in the brain function independently of circulating levels of hormone to strictly controlled local thyroid hormone signaling. A critical factor is the type 3 deiodinase (DIO3), which is located in neurons and protects the brain from excessive thyroid hormone. Here we examined whether a local increase in brain thyroid hormone action secondary to DIO3 deficiency is of consequence for social behaviors...
July 17, 2017: Genes, Brain, and Behavior
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