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https://www.readbyqxmd.com/read/29655938/delineation-of-early-brain-development-from-fetuses-to-infants-with-diffusion-mri-and-beyond
#1
REVIEW
Minhui Ouyang, Jessica Dubois, Qinlin Yu, Pratik Mukherjee, Hao Huang
Dynamic macrostructural and microstructural changes take place from the mid-fetal stage to 2 years after birth. Delineating brain structural changes during this early developmental period provides new insights into the complicated processes of both typical brain development and the pathological mechanisms underlying various psychiatric and neurological disorders including autism, attention deficit hyperactivity disorder and schizophrenia. Decades of histological studies have identified strong spatial and functional gradients of maturation in human brain gray and white matter...
April 12, 2018: NeuroImage
https://www.readbyqxmd.com/read/29584590/maternal-thyroid-function-in-early-pregnancy-and-child-neurodevelopmental-disorders-a-danish-nationwide-case-cohort-study
#2
Stine Linding Andersen, Stig Andersen, Peter Vestergaard, Jørn Olsen
BACKGROUND: Maternal thyroid dysfunction may adversely affect fetal brain development, but more evidence is needed to refine this hypothesis. The aim of this study was to evaluate potential fetal programming by abnormal maternal thyroid function on child neurodevelopmental disorders. METHODS: The design was a case-cohort study within the Danish National Birth Cohort (1997-2003). From the eligible cohort of 71,706 women, a random 12% sub-cohort (n = 7624) was selected, and all women (n = 2276) whose child was diagnosed with seizures, specific developmental disorder (SDD), autism spectrum disorder (ASD), and/or attention-deficit/hyperactivity disorder (ADHD) up to December 31, 2010, were identified...
March 27, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29558816/prenatal-primary-prevention-of-mental-illness-by-micronutrient-supplements-in-pregnancy
#3
Robert Freedman, Sharon K Hunter, M Camille Hoffman
Genes, infection, malnutrition, and other factors affecting fetal brain development are a major component of risk for a child's emotional development and later mental illnesses, including schizophrenia, bipolar disorder, and autism. Prenatal interventions to ameliorate that risk have yet to be established for clinical use. A systematic review of prenatal nutrients and childhood emotional development and later mental illness was performed. Randomized trials of folic acid, phosphatidylcholine, and omega-3 fatty acid supplements assess effects of doses beyond those adequate to remedy deficiencies to promote normal fetal development despite genetic and environmental risks...
March 21, 2018: American Journal of Psychiatry
https://www.readbyqxmd.com/read/29556724/de-novo-apparent-loss-of-function-mutations-in-prr12-in-three-patients-with-intellectual-disability-and-iris-abnormalities
#4
Magalie S Leduc, Marianne Mcguire, Suneeta Madan-Khetarpal, Damara Ortiz, Susan Hayflick, Kory Keller, Christine M Eng, Yaping Yang, Weimin Bi
PRR12 encodes a proline-rich protein nuclear factor suspected to be involved in neural development. Its nuclear expression in fetal brains and in the vision system supports its role in brain and eye development more specifically. However, its function and potential role in human disease has not been determined. Recently, a de novo t(10;19) (q22.3;q13.33) translocation disrupting the PRR12 gene was detected in a girl with intellectual disability and neuropsychiatric alterations. Here we report on three unrelated patients with heterozygous de novo apparent loss-of-function mutations in PRR12 detected by clinical whole exome sequencing: c...
March 19, 2018: Human Genetics
https://www.readbyqxmd.com/read/29555138/optimizing-an-ehealth-insomnia-intervention-for-children-with-neurodevelopmental-disorders-a-delphi-study
#5
Nicole Ali, Gabrielle Rigney, Shelly K Weiss, Cary A Brown, Evelyn Constantin, Roger Godbout, Ana Hanlon-Dearman, Osman Ipsiroglu, Graham J Reid, Sarah Shea, Isabel M Smith, Machiel Van der Loos, Penny V Corkum
Insomnia, which is related to daytime deficits and is a common problem for children with neurodevelopmental disorders (NDDs), is often successfully treated with behavioral strategies. However, there are barriers to accessing these treatments, and there has been little research examining what these interventions need to be usable and effective. The goal of this study was to gain consensus from experts in the field on the key components of an eHealth, parent-implemented, intervention program aimed at improving sleep in children with attention-deficit/hyperactivity disorder, autism spectrum disorder, cerebral palsy, and fetal alcohol spectrum disorder...
April 2018: Sleep Health
https://www.readbyqxmd.com/read/29545257/advanced-whole-genome-sequencing-and-analysis-of-fetal-genomes-from-amniotic-fluid
#6
Qing Mao, Robert Chin, Weiwei Xie, Yuqing Deng, Wenwei Zhang, Huixin Xu, Rebecca Yu Zhang, Quan Shi, Erin E Peters, Natali Gulbahce, Zhenyu Li, Fang Chen, Radoje Drmanac, Brock A Peters
BACKGROUND: Amniocentesis is a common procedure, the primary purpose of which is to collect cells from the fetus to allow testing for abnormal chromosomes, altered chromosomal copy number, or a small number of genes that have small single- to multibase defects. Here we demonstrate the feasibility of generating an accurate whole-genome sequence of a fetus from either the cellular or cell-free DNA (cfDNA) of an amniotic sample. METHODS: cfDNA and DNA isolated from the cell pellet of 31 amniocenteses were sequenced to approximately 50× genome coverage by use of the Complete Genomics nanoarray platform...
March 15, 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29533680/copy-number-variation-in-fetal-alcohol-spectrum-disorder
#7
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
https://www.readbyqxmd.com/read/29529521/prenatal-dexamethasone-treatment-in-the-context-of-at-risk-cah-pregnancies-long-term-behavioral-and-cognitive-outcome
#8
Leif Karlsson, Anna Nordenström, Tatja Hirvikoski, Svetlana Lajic
Dexamethasone (DEX) is used to prevent prenatal virilization in female fetuses with congenital adrenal hyperplasia (CAH). Since treatment has to be started before the genotype of the fetus is known, 7 out of 8 fetuses will be exposed to DEX without benefit. Previously, we have observed negative effects on cognition and behavior in DEX treated children. Here we evaluated neuropsychological functions, psychopathology and autistic traits in non-CAH DEX-treated adults exposed during the first trimester of fetal life (duration 6...
March 1, 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29524155/reproductive-genetics-and-the-aging-male
#9
REVIEW
Alexander N Yatsenko, Paul J Turek
PURPOSE: To examine current evidence of the known effects of advanced paternal age on sperm genetic and epigenetic changes and associated birth defects and diseases in offspring. METHODS: Review of published PubMed literature. RESULTS: Advanced paternal age (> 40 years) is associated with accumulated damage to sperm DNA and mitotic and meiotic quality control mechanisms (mismatch repair) during spermatogenesis. This in turn causes well-delineated abnormalities in sperm chromosomes, both numerical and structural, and increased sperm DNA fragmentation (3%/year of age) and single gene mutations (relative risk, RR 10)...
March 9, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29504047/sex-differences-in-autism-spectrum-disorder-a-review
#10
REVIEW
Sarah L Ferri, Ted Abel, Edward S Brodkin
PURPOSE OF REVIEW: Neurodevelopmental disorders disproportionately affect males. The mechanisms underlying male vulnerability or female protection are not known and remain understudied. Determining the processes involved is crucial to understanding the etiology and advancing treatment of neurodevelopmental disorders. Here, we review current findings and theories that contribute to male preponderance of neurodevelopmental disorders, with a focus on autism. RECENT FINDINGS: Recent work on the biological basis of the male preponderance of autism and other neurodevelopmental disorders includes discussion of a higher genetic burden in females and sex-specific gene mutations or epigenetic changes that differentially confer risk to males or protection to females...
March 5, 2018: Current Psychiatry Reports
https://www.readbyqxmd.com/read/29460795/evidence-the-u-s-autism-epidemic-initiated-by-acetaminophen-tylenol-is-aggravated-by-oral-antibiotic-amoxicillin-clavulanate-augmentin-and-now-exponentially-by-herbicide-glyphosate-roundup
#11
Peter Good
Because certain hereditary diseases show autistic behavior, and autism often runs in families, researchers seek genes underlying the pathophysiology of autism, thus core behaviors. Other researchers argue environmental factors are decisive, citing compelling evidence of an autism epidemic in the United States beginning about 1980. Recognition that environmental factors influence gene expression led to synthesis of these views - an 'epigenetic epidemic' provoked by pervasive environmental agents altering expression of vulnerable genes, inducing characteristic autistic biochemistries in many mothers and infants...
February 2018: Clinical Nutrition ESPEN
https://www.readbyqxmd.com/read/29453023/implications-of-altered-maternal-cytokine-concentrations-on-infant-outcomes-in-children-with-prenatal-alcohol-exposure
#12
K D Sowell, J Y Uriu-Adams, J Van de Water, C D Chambers, C D Coles, J A Kable, L Yevtushok, N Zymak-Zakutnya, W Wertelecki, C L Keen
Excessive alcohol consumption has been shown to increase serum plasma levels of numerous immune cytokines. Maternal immune activation and elevated cytokines have been implicated in certain neurological disorders (e.g., autism and schizophrenia) in the offspring. We investigated the hypothesis that elevated cytokines during pregnancy are a risk factor in women who gave birth to a child with Fetal Alcohol Spectrum Disorder (FASD) or a child with neurobehavioral impairment, regardless of prenatal alcohol exposure...
August 12, 2017: Alcohol
https://www.readbyqxmd.com/read/29450837/associations-between-the-2nd-to-4th-digit-ratio-and-autism-spectrum-disorder-in-population-based-samples-of-boys-and-girls-findings-from-the-study-to-explore-early-development
#13
Laura A Schieve, Lin Tian, Nicole Dowling, Lisa Croen, Julie Hoover-Fong, Aimee Alexander, Stuart K Shapira
The ratio of the index (2nd) finger to ring (4th) finger lengths (2D:4D) is a proxy for fetal testosterone and estradiol. Studies suggesting 2D:4D is inversely associated with autism spectrum disorder (ASD) in males were limited by lack of confounder and subgroup assessments. Studies of females are sparse. We examined associations between ASD and 2D:4D among children in the Study to Explore Early Development; we considered case subgroups and numerous potential demographic and maternal-perinatal health confounders...
February 15, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29413892/mechanisms-of-cortical-differentiation
#14
Lata Adnani, Sisu Han, Saiqun Li, Pierre Mattar, Carol Schuurmans
During fetal and postnatal development, the human brain generates 160 billion neuronal and glial cells, each with precise cellular phenotypes. To effectively manage such a complicated task, intrinsic (e.g., transcription factors) and extrinsic (environmental signals) cues cooperate to regulate the decision by neural progenitors to continue to proliferate or to differentiate. Loss- and gain-of-function studies in the mouse brain have been instrumental in identifying these cues, leading to a fairly well-developed and well-integrated model of neocortical development...
2018: International Review of Cell and Molecular Biology
https://www.readbyqxmd.com/read/29394471/folate-receptor-autoantibodies-are-prevalent-in-children-diagnosed-with-autism-spectrum-disorder-their-normal-siblings-and-parents
#15
Edward V Quadros, Jeffrey M Sequeira, W Ted Brown, Clifford Mevs, Elaine Marchi, Michael Flory, Edmund C Jenkins, Milen T Velinov, Ira L Cohen
Folate deficiency can affect fetal and neonatal brain development Considering the reported association of Folate receptor alpha (FRα) autoantibodies (Abs) with autism and developmental disorders, we sought to confirm this in families of 82 children with ASD, 53 unaffected siblings, 65 fathers, and 70 mothers, along with 52 unrelated normal controls. Overall, 76% of the affected children, 75% of the unaffected siblings, 69% of fathers and 59% of mothers were positive for either blocking or binding Ab, whereas the prevalence of this Ab in the normal controls was 29%...
February 2, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29377458/maternal-thyroid-hormone-is-required-for-parvalbumin-neuron-development-in-the-anterior-hypothalamic-area
#16
Lisbeth Harder, Susi Dudazy-Gralla, Helge Müller-Fielitz, Jens Hjerling Leffler, Björn Vennström, Heike Heuer, Jens Mittag
Thyroid hormone (TH) is crucial for brain development and function. This becomes most evident in untreated congenital hypothyroidism, leading to irreversible mental retardation. Likewise, maternal hypothyroxinemia, a lack of TH during pregnancy, is associated with neurological dysfunction in the offspring such as autism and reduced intellectual capacity. In the brain, TH acts mainly through TH receptor alpha 1 (TRα1). Consequently, mice heterozygous for a dominant-negative mutation in TRα1 display profound neuroanatomical abnormalities including deranged development of parvalbumin neurons...
January 29, 2018: Journal of Neuroendocrinology
https://www.readbyqxmd.com/read/29374522/inequity-aversion-is-observed-in-common-marmosets-but-not-in-marmoset-models-of-autism-induced-by-prenatal-exposure-to-valproic-acid
#17
Miyuki Yasue, Akiko Nakagami, Keiko Nakagaki, Noritaka Ichinohe, Nobuyuki Kawai
Humans and various nonhuman primates respond negatively to inequity not in their favor (i.e., inequity aversion), when inequity between two individuals is introduced. Common marmosets, a highly prosocial species, further discriminated between human actors who reciprocated in social exchanges, and those who did not. Conversely, marmoset models of autism, induced via prenatal exposure to valproic acid (VPA marmosets), did not discriminate. Interestingly, previous studies of inequity aversion in marmosets have produced negative results, or were limited to males...
January 24, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29356450/a-prospective-study-of-fetal-head-growth-autistic-traits-and-autism-spectrum-disorder
#18
Laura M E Blanken, Alena Dass, Gail Alvares, Jan van der Ende, Nikita K Schoemaker, Hanan El Marroun, Martha Hickey, Craig Pennell, Scott White, Murray T Maybery, Cheryl Dissanayake, Vincent W V Jaddoe, Frank C Verhulst, Henning Tiemeier, Will McIntosh, Tonya White, Andrew Whitehouse
Altered trajectories of brain growth are often reported in Autism Spectrum Disorder (ASD), particularly during the first year of life. However, less is known about prenatal head growth trajectories, and no study has examined the relation with postnatal autistic symptom severity. The current study prospectively examined the association between fetal head growth and the spectrum of autistic symptom severity in two large population-based cohorts, including a sample of individuals with clinically diagnosed ASD...
April 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29346770/integrative-analyses-of-de-novo-mutations-provide-deeper-biological-insights-into-autism-spectrum-disorder
#19
Atsushi Takata, Noriko Miyake, Yoshinori Tsurusaki, Ryoko Fukai, Satoko Miyatake, Eriko Koshimizu, Itaru Kushima, Takashi Okada, Mako Morikawa, Yota Uno, Kanako Ishizuka, Kazuhiko Nakamura, Masatsugu Tsujii, Takeo Yoshikawa, Tomoko Toyota, Nobuhiko Okamoto, Yoko Hiraki, Ryota Hashimoto, Yuka Yasuda, Shinji Saitoh, Kei Ohashi, Yasunari Sakai, Shouichi Ohga, Toshiro Hara, Mitsuhiro Kato, Kazuyuki Nakamura, Aiko Ito, Chizuru Seiwa, Emi Shirahata, Hitoshi Osaka, Ayumi Matsumoto, Saoko Takeshita, Jun Tohyama, Tomoko Saikusa, Toyojiro Matsuishi, Takumi Nakamura, Takashi Tsuboi, Tadafumi Kato, Toshifumi Suzuki, Hirotomo Saitsu, Mitsuko Nakashima, Takeshi Mizuguchi, Fumiaki Tanaka, Norio Mori, Norio Ozaki, Naomichi Matsumoto
Recent studies have established important roles of de novo mutations (DNMs) in autism spectrum disorders (ASDs). Here, we analyze DNMs in 262 ASD probands of Japanese origin and confirm the "de novo paradigm" of ASDs across ethnicities. Based on this consistency, we combine the lists of damaging DNMs in our and published ASD cohorts (total number of trios, 4,244) and perform integrative bioinformatics analyses. Besides replicating the findings of previous studies, our analyses highlight ATP-binding genes and fetal cerebellar/striatal circuits...
January 16, 2018: Cell Reports
https://www.readbyqxmd.com/read/29346266/the-relationship-between-autism-spectrum-disorder-and-melatonin-during-fetal-development
#20
REVIEW
Yunho Jin, Jeonghyun Choi, Jinyoung Won, Yonggeun Hong
The aim of this review is to clarify the interrelationship between melatonin and autism spectrum disorder (ASD) during fetal development. ASD refers to a diverse range of neurodevelopmental disorders characterized by social deficits, impaired communication, and stereotyped or repetitive behaviors. Melatonin, which is secreted by the pineal gland, has well-established neuroprotective and circadian entraining effects. During pregnancy, the hormone crosses the placenta into the fetal circulation and transmits photoperiodic information to the fetus allowing the establishment of normal sleep patterns and circadian rhythms that are essential for normal neurodevelopment...
January 18, 2018: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
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