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https://www.readbyqxmd.com/read/28101829/autism-spectrum-disorders%C3%A2-diagnosis-and-management
#1
REVIEW
Sharmila Banerjee Mukherjee
Autism Spectrum Disorder (ASD) is a neuro-developmental disorder commonly seen in children. It is characterized by age inappropriate, impaired social communication and the presence of stereotypic behavior. This disorder is hypothesized to result from cerebral dysfunction arising from a complex interaction between genetic, epigenetic and environmental factors. ASD should be suspected in children failing ASD specific screening tests, in the presence of red flags in social, language and/or play domains, in children with developmental or language delay, abnormal behavior, poor school performance or in those who are at high risk...
January 19, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28077292/general-and-specific-factors-in-the-processing-of-faces
#2
Roeland J Verhallen, Jenny M Bosten, Patrick T Goodbourn, Adam J Lawrance-Owen, Gary Bargary, J D Mollon
The ability to recognize faces varies considerably between individuals, but does performance co-vary for tests of different aspects of face processing? For 397 participants (of whom the majority were university students) we obtained scores on the Mooney Face Test, Glasgow Face Matching Test (GFMT), Cambridge Face Memory Test (CFMT) and Composite Face Test. Overall performance was significantly correlated for each pair of tests, and we suggest the term f for the factor underlying this pattern of positive correlations...
January 7, 2017: Vision Research
https://www.readbyqxmd.com/read/28035465/gene-based-analyses-reveal-novel-genetic-overlap-and-allelic-heterogeneity-across-five-major-psychiatric-disorders
#3
Huiying Zhao, Dale R Nyholt
Studies using genome-wide association (GWA) single nucleotide polymorphism (SNP) level data have indicated genetic overlap across the five major disorders in the Psychiatric Genomics Consortium (PGC): attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), bipolar disorder (BPD), major depressive disorder (MDD), and schizophrenia (SCZ). However, such SNP-level analyses reveal little about the underlying biology and are reliant on correlated SNP effects across disorders. In contrast to SNPs, genes are more closely related to biology and gene-based tests can incorporate allelic heterogeneity...
December 29, 2016: Human Genetics
https://www.readbyqxmd.com/read/28025742/loss-of-function-of-ptpr-%C3%AE-and-%C3%AE-observed-in-sporadic-schizophrenia-causes-brain-region-specific-deregulation-of-monoamine-levels-and-altered-behavior-in-mice
#4
Arnaud Cressant, Veronique Dubreuil, Jing Kong, Thorsten Manfred Kranz, Francoise Lazarini, Jean-Marie Launay, Jacques Callebert, Jan Sap, Dolores Malaspina, Sylvie Granon, Sheila Harroch
RATIONALE: The receptor protein tyrosine phosphatase PTPRG has been genetically associated with psychiatric disorders and is a ligand for members of the contactin family, which are themselves linked to autism spectrum disorders. OBJECTIVE: Based on our finding of a phosphatase-null de novo mutation in PTPRG associated with a case of sporadic schizophrenia, we used PTPRG knockout (KO) mice to model the effect of a loss-of-function mutation. We compared the results with loss-of-function in its close paralogue PTPRZ, previously associated with schizophrenia...
December 26, 2016: Psychopharmacology
https://www.readbyqxmd.com/read/28017919/relationship-of-a-common-oxtr-gene-variant-to-brain-structure-and-default-mode-network-function-in-healthy-humans
#5
Junping Wang, Meredith N Braskie, George W Hafzalla, Joshua Faskowitz, Katie L McMahon, Greig I de Zubicaray, Margaret J Wright, Chunshui Yu, Paul M Thompson
A large body of research suggests that oxytocin receptor (OXTR) gene polymorphisms may influence both social behaviors and psychiatric conditions related to social deficits, such as autism spectrum disorders (ASDs), schizophrenia, and mood and anxiety disorders. However, the neural mechanism underlying these associations is still unclear. Relative to controls, patients with these psychiatric conditions show differences in brain structure, and in resting state fMRI (rs-fMRI) signal synchronicity among default mode network (DMN) regions (also known as functional connectivity)...
December 23, 2016: NeuroImage
https://www.readbyqxmd.com/read/27993229/development-of-two-dimensional-measures-of-restricted-and-repetitive-behavior-in-parents-and-children
#6
David W Evans, Mirko Uljarević, Laina G Lusk, Eva Loth, Thomas Frazier
OBJECTIVE: Restricted and repetitive behaviors (RRBs) are a heterogeneous set of behaviors common across a wide range of neurodevelopmental disorders (NDDs) and neuropsychiatric disorders (NPDs) that extend well into the general population. This study introduces 2 dimensional measurements of RRBs for use in typical and clinical populations from infancy to adulthood. METHOD: The Childhood Routines Inventory-Revised (CRI-R) and the Adult Routines Inventory (ARI) were created and administered online to a nationally representative cohort of 3,108 parents with 3,032 children (range 12 months to 17 years 11 months)...
January 2017: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/27984339/diagnostic-evaluation-of-children-with-autism-spectrum-disorders-clinician-compliance-with-published-guidelines
#7
Alexis Tchaconas, Andrew Adesman
OBJECTIVE: To assess to what extent child neurologists (CNs) and developmental-behavioral pediatricians (DBPs) order diagnostic tests that are not recommended/indicated and/or fail to order tests that are recommended/indicated when evaluating children with an autism spectrum disorder (ASD). METHOD: CNs and DBPs in the United States were asked which laboratory tests they would "routinely order" for a preschool child with ASD and IQ = 58 (ASD + Intellectual Disability (ID)), and a preschool child with ASD and IQ = 85 (ASD-ID)...
January 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/27965598/defining-precision-medicine-approaches-to-autism-spectrum-disorders-concepts-and-challenges
#8
Eva Loth, Declan G Murphy, Will Spooren
The tremendous clinical and etiological variability between individuals with autism spectrum disorder (ASD) has made precision medicine the most promising treatment approach. It aims to combine new pathophysiologically based treatments with objective tests (stratification biomarkers) to predict which treatment may be beneficial for a particular person. Here we discuss significant advances and current challenges for this approach: rare monogenic forms of ASD have provided a major breakthrough for the identification of treatment targets by providing a means to trace causal links from a gene to specific molecular alterations and biological pathways...
2016: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/27965028/two-de-novo-mutations-in-an-autistic-child-who-had-previously-undergone-transplantation-for-dilated-cardiomyopathy-the-importance-of-keeping-an-open-mind
#9
Umair Sajid, Bob Argiropoulos, Xing-Chang Wei, Jillian S Parboosingh, Ryan E Lamont, Aneal Khan, Steven C Greenway
We report the finding of 2 de novo mutations in an 8-year-old boy with developmental delay and autism who underwent heart transplantation at 1 year of age for idiopathic dilated cardiomyopathy. We identified a de novo microdeletion at chromosome 2p16.3 involving the neurexin-1 (NRXN1) gene and a de novo pathologic variant (Pro838Leu) in the myosin heavy chain 7 (MYH7) gene. This case emphasizes the importance of comprehensive genetic evaluation in patients with cardiomyopathy, particularly if they have extracardiac abnormalities, and the necessity of interpreting variants with attention to the phenotype...
September 26, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/27933285/developmental-profile-and-diagnoses-in-children-presenting-with-motor-stereotypies
#10
Francesco Cardona, Francesca Valente, Daniela Miraglia, Caterina D'Ardia, Valentina Baglioni, Flavia Chiarotti
INTRODUCTION: Motor stereotypies represent a typical example of the difficulty in distinguishing non-clinical behaviors (physiological and transient) from symptoms or among different disorders ["primary stereotypies," associated with autistic spectrum disorder (ASD), intellectual disabilities, genetic syndromes, and sensory impairment]. The aim of this study was to obtain an accurate assessment on the relationship between stereotypies and neurodevelopmental disorders. METHODS: We studied 23 children (3 girls), aged 36-95 months, who requested a consultation due to the persistence or increased severity of motor stereotypies...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27931018/primary-carnitine-deficiency-and-newborn-screening-for-disorders-of-the-carnitine-cycle
#11
Nicola Longo
Carnitine is needed for transfer of long-chain fatty acids across the inner mitochondrial membrane for subsequent β-oxidation. Carnitine can be synthesized by the body and is also obtained in the diet through consumption of meat and dairy products. Defects in carnitine transport such as those caused by defective activity of the OCTN2 transporter encoded by the SLC22A5 gene result in primary carnitine deficiency, and newborn screening programmes can identify patients at risk for this condition before irreversible damage...
2016: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/27920663/asd-and-genetic-associations-with-receptors-for-oxytocin-and-vasopressin-avpr1a-avpr1b-and-oxtr
#12
Sunday M Francis, Soo-Jeong Kim, Emily Kistner-Griffin, Stephen Guter, Edwin H Cook, Suma Jacob
Background: There are limited treatments available for autism spectrum disorder (ASD). Studies have reported significant associations between the receptor genes of oxytocin (OT) and vasopressin (AVP) and ASD diagnosis, as well as ASD-related phenotypes. Researchers have also found the manipulation of these systems affects social and repetitive behaviors, core characteristics of ASD. Consequently, research involving the oxytocin/vasopressin pathways as intervention targets has increased. Therefore, further examination into the relationship between these neuropeptides and ASD was undertaken...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27891068/can-mouse-imaging-studies-bring-order-to-autism-connectivity-chaos
#13
Adam Liska, Alessandro Gozzi
Functional Magnetic Resonance Imaging (fMRI) has consistently highlighted impaired or aberrant functional connectivity across brain regions of autism spectrum disorder (ASD) patients. However, the manifestation and neural substrates of these alterations are highly heterogeneous and often conflicting. Moreover, their neurobiological underpinnings and etiopathological significance remain largely unknown. A deeper understanding of the complex pathophysiological cascade leading to aberrant connectivity in ASD can greatly benefit from the use of model organisms where individual pathophysiological or phenotypic components of ASD can be recreated and investigated via approaches that are either off limits or confounded by clinical heterogeneity...
2016: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/27890788/genetic-testing-among-spanish-pediatric-neurologists-knowledge-attitudes-and-practices
#14
J Domínguez-Carral, J López-Pisón, A Macaya, M Bueno Campaña, M A García-Pérez, D Natera-de Benito
Advances in genetic testing applied to child neurology have enabled the development of genetic tests with greater sensitivity in elucidating an etiologic diagnosis for common neurological conditions. The objective of the current study was to examine child neurologists' perspectives and insights into genetic testing. We surveyed 118 Spanish child neurologists, exploring their knowledge, attitudes, and practices concerning genetic tests. All of them had requested at least one genetic test in the past six months...
November 25, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27884424/vision-as-a-beachhead
#15
REVIEW
David J Heeger, Marlene Behrmann, Ilan Dinstein
When neural circuits develop abnormally due to different genetic deficits and/or environmental insults, neural computations and the behaviors that rely on them are altered. Computational theories that relate neural circuits with specific quantifiable behavioral and physiological phenomena, therefore, serve as extremely useful tools for elucidating the neuropathological mechanisms that underlie different disorders. The visual system is particularly well suited for characterizing differences in neural computations; computational theories of vision are well established, and empirical protocols for measuring the parameters of those theories are well developed...
September 29, 2016: Biological Psychiatry
https://www.readbyqxmd.com/read/27875746/de-novo-and-inherited-scn8a-epilepsy-mutations-detected-by-gene-panel-analysis
#16
Kameryn M Butler, Cristina da Silva, Yuval Shafir, James D Weisfeld-Adams, John J Alexander, Madhuri Hegde, Andrew Escayg
OBJECTIVES: To determine the incidence of pathogenic SCN8A variants in a cohort of epilepsy patients referred for clinical genetic testing. We also investigated the contribution of SCN8A to autism spectrum disorder, intellectual disability, and neuromuscular disorders in individuals referred for clinical genetic testing at the same testing laboratory. METHODS: Sequence data from 275 epilepsy panels screened by Emory Genetics Laboratory were reviewed for variants in SCN8A...
November 6, 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27855195/paternal-aging-affects-behavior-in-pax6-mutant-mice-a-gene-environment-interaction-in-understanding-neurodevelopmental-disorders
#17
Kaichi Yoshizaki, Tamio Furuse, Ryuichi Kimura, Valter Tucci, Hideki Kaneda, Shigeharu Wakana, Noriko Osumi
Neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit and hyperactivity disorder (ADHD) have increased over the last few decades. These neurodevelopmental disorders are characterized by a complex etiology, which involves multiple genes and gene-environmental interactions. Various genes that control specific properties of neural development exert pivotal roles in the occurrence and severity of phenotypes associated with neurodevelopmental disorders. Moreover, paternal aging has been reported as one of the factors that contribute to the risk of ASD and ADHD...
2016: PloS One
https://www.readbyqxmd.com/read/27846046/clinical-and-molecular-characterization-of-three-genomic-rearrangements-at-chromosome-22q13-3-associated-with-autism-spectrum-disorder
#18
Chia-Hsiang Chen, Hsin-I Chen, Hsiao-Mei Liao, Yann-Jang Chen, Jye-Siung Fang, Kuei-Fang Lee, Susan Shur-Fen Gau
OBJECTIVES: Chromosome 22q13 is a hot region of genomic rearrangements that may result in deletion, duplication, and translocation, and that may lead to neurodevelopmental disorders in affected patients. MATERIALS AND METHODS: We carried out an array-based comparative genomic hybridization analysis to detect copy number variations (CNVs) of genomic DNA in patients with autism spectrum disorders (ASD) who were consecutively recruited into our molecular genetic study of ASD...
November 11, 2016: Psychiatric Genetics
https://www.readbyqxmd.com/read/27825394/shared-atypical-brain-anatomy-and-intrinsic-functional-architecture-in-male-youth-with-autism-spectrum-disorder-and-their-unaffected-brothers
#19
H-Y Lin, W-Y I Tseng, M-C Lai, Y-T Chang, S S-F Gau
BACKGROUND: Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder, yet the search for definite genetic etiologies remains elusive. Delineating ASD endophenotypes can boost the statistical power to identify the genetic etiologies and pathophysiology of ASD. We aimed to test for endophenotypes of neuroanatomy and associated intrinsic functional connectivity (iFC) via contrasting male youth with ASD, their unaffected brothers and typically developing (TD) males...
November 9, 2016: Psychological Medicine
https://www.readbyqxmd.com/read/27819284/superimposing-status-epilepticus-on-neuron-subset-specific-pten-haploinsufficient-and-wild-type-mice-results-in-long-term-changes-in-behavior
#20
Gregory D Smith, Jessika White, Joaquin N Lugo
We evaluated the effects of superimposing seizures on a genetic mutation with known involvement in both Autism Spectrum Disorder and in epilepsy. Neuron-subset specific (NS)-Pten heterozygous (HT) and wildtype (WT) adult mice received either intraperitoneal injections of kainic acid (20 mg/kg) to induce status epilepticus or the vehicle (saline). Animals then received a battery of behavioral tasks in order to evaluate activity levels, anxiety, repetitive-stereotyped behavior, social behavior, learning and memory...
November 7, 2016: Scientific Reports
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