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https://www.readbyqxmd.com/read/29761934/assessing-the-heterogeneity-of-autism-spectrum-symptoms-in-a-school-population
#1
Paula Morales-Hidalgo, Pere J Ferrando, Josefa Canals
The aim of the present study was to assess whether the nature of the main autistic features (i.e., social communication problems and repetitive and restrictive patterns) are better conceptualized as dimensional or categorical in a school population. The study was based on the teacher ratings of two different age groups: 2,585 children between the ages of 10 and 12 (Primary Education; PE) and 2,502 children between the ages of 3 and 5 (Nursery Education; NE) from 60 mainstream schools. The analyses were based on Factor Mixture Analysis, a novel approach that combines dimensional and categorical features and prevents spurious latent classes from appearing...
May 15, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29753752/the-cingulum-bundle-anatomy-function-and-dysfunction
#2
REVIEW
Emma J Bubb, Claudia Metzler-Baddeley, John P Aggleton
The cingulum bundle is a prominent white matter tract that interconnects frontal, parietal, and medial temporal sites, while also linking subcortical nuclei to the cingulate gyrus. Despite its apparent continuity, the cingulum's composition continually changes as fibres join and leave the bundle. To help understand its complex structure, this review begins with detailed, comparative descriptions of the multiple connections comprising the cingulum bundle. Next, the impact of cingulum bundle damage in rats, monkeys, and humans is analysed...
May 10, 2018: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29746896/insights-into-cerebellar-development-and-connectivity
#3
REVIEW
Jaclyn Beckinghausen, Roy V Sillitoe
The cerebellum has a well-established role in controlling motor functions such coordination, balance, posture, and skilled learning. There is mounting evidence that it might also play a critical role in non-motor functions such as cognition and emotion. It is therefore not surprising that cerebellar deficits are associated with a wide array of diseases including ataxia, dystonia tremor, schizophrenia, dyslexia, and autism spectrum disorder. What is intriguing is that a seemingly uniform circuit that is often described as being "simple" should carry out all of these behaviors...
May 7, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29742275/early-intensive-behavioral-intervention-eibi-for-young-children-with-autism-spectrum-disorders-asd
#4
REVIEW
Brian Reichow, Kara Hume, Erin E Barton, Brian A Boyd
BACKGROUND: The rising prevalence of autism spectrum disorders (ASD) increases the need for evidence-based behavioral treatments to lessen the impact of symptoms on children's functioning. At present, there are no curative or psychopharmacological therapies to effectively treat all symptoms of the disorders. Early intensive behavioral intervention (EIBI) is a treatment based on the principles of applied behavior analysis. Delivered for multiple years at an intensity of 20 to 40 hours per week, it is one of the more well-established treatments for ASD...
May 9, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29736781/combination-of-rs-fmri-and-smri-data-to-discriminate-autism-spectrum-disorders-in-young-children-using-deep-belief-network
#5
Maryam Akhavan Aghdam, Arash Sharifi, Mir Mohsen Pedram
In recent years, the use of advanced magnetic resonance (MR) imaging methods such as functional magnetic resonance imaging (fMRI) and structural magnetic resonance imaging (sMRI) has recorded a great increase in neuropsychiatric disorders. Deep learning is a branch of machine learning that is increasingly being used for applications of medical image analysis such as computer-aided diagnosis. In a bid to classify and represent learning tasks, this study utilized one of the most powerful deep learning algorithms (deep belief network (DBN)) for the combination of data from Autism Brain Imaging Data Exchange I and II (ABIDE I and ABIDE II) datasets...
May 7, 2018: Journal of Digital Imaging: the Official Journal of the Society for Computer Applications in Radiology
https://www.readbyqxmd.com/read/29735112/stereotypic-movement-disorders
#6
Mackenzie Katherine
This review summarizes motor stereotypies in terms of description, prevalence, pathophysiology, diagnosis and management. They are fixed and persistent movements. Stereotypies begin before 3 years of age and continue into adulthood. Primary motor stereotypies occur in children of normal intelligence, whereas secondary stereotypies ensue in the setting of an additional diagnosis such as autism spectrum disorder or other neurologic disorders. They are highly associated with comorbidities such as anxiety, obsessive-compulsive symptoms, inattention, and tics...
April 2018: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29730869/cognitive-features-of-high-functioning-adults-with-autism-and-schizophrenia-spectrum-disorders
#7
Öykü Mançe Çalışır, Eşref Cem Atbaşoğlu, Halise Devrimci Özgüven, Şenay Ölmez
OBJECTIVE: Autism Spectrum Disorder (ASD) and schizophrenia share common features in terms of pathophysiology and clinical appearance. Cognitive deficits are also present in both disorders. However, ASD and schizophrenia are heterogeneous syndromes, and  few  studies  have addressed patients with these disorders who have above average educational attainment. In this study, we assessed the cognitive functions of a group of adult ASD patients with adequate mental development and verbal communication skills (High Functioning Autism, HFA) and compared them with a group of Schizophrenia patients matched for level of education...
2018: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/29730177/ankyrins-roles-in-synaptic-biology-and-pathology
#8
REVIEW
Katharine R Smith, Peter Penzes
Ankyrins are broadly expressed adaptors that organize diverse membrane proteins into specialized domains and link them to the sub-membranous cytoskeleton. In neurons, ankyrins are known to have essential roles in organizing the axon initial segment and nodes of Ranvier. However, recent studies have revealed novel functions for ankyrins at synapses, where they organize and stabilize neurotransmitter receptors, modulate dendritic spine morphology and control adhesion to the presynaptic site. Ankyrin genes have also been highly associated with a range of neurodevelopmental and psychiatric diseases, including bipolar disorder, schizophrenia and autism, which all demonstrate overlap in their genetics, mechanisms and phenotypes...
May 3, 2018: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/29728258/ambient-ozone-exposure-and-mental-health-a-systematic-review-of-epidemiological-studies
#9
REVIEW
Tianyu Zhao, Iana Markevych, Marcel Romanos, Dennis Nowak, Joachim Heinrich
BACKGROUND: An increasing number of studies have suggested adverse effects of air pollution on mental health. Given the potentially negative impacts of ozone exposure on the immune and nervous system driven from animal experiments, ozone might also affect mental health. However, no systematic synthesis of the relevant literature has been conducted yet. This paper reviews the studies that assessed the link between ozone exposure and mental health thus far. METHODS: We followed the Preferred Reporting Items for Systematic Review and Meta-analysis (PRISMA)...
May 1, 2018: Environmental Research
https://www.readbyqxmd.com/read/29727358/relationships-between-gross-motor-skills-and-social-function-in-young-boys-with-autism-spectrum-disorder
#10
Jamie M Holloway, Toby M Long, Fred Biasini
PURPOSE: The purpose of this study was to examine the relationship between gross motor skills and social function in young boys with autism spectrum disorder. METHODS: Twenty-one children with autism spectrum disorder participated in the study. The Peabody Developmental Motor Scales Second Edition and the Miller Function and Participation Scales were used to assess gross motor skills. The Social Skills Improvement System Rating Scales was used to assess social function...
May 2, 2018: Pediatric Physical Therapy
https://www.readbyqxmd.com/read/29719672/abnormal-coherence-and-sleep-composition-in-children-with-angelman-syndrome-a-retrospective-eeg-study
#11
Hanna den Bakker, Michael S Sidorov, Zheng Fan, David J Lee, Lynne M Bird, Catherine J Chu, Benjamin D Philpot
Background: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, speech and motor impairments, epilepsy, abnormal sleep, and phenotypic overlap with autism. Individuals with AS display characteristic EEG patterns including high-amplitude rhythmic delta waves. Here, we sought to quantitatively explore EEG architecture in AS beyond known spectral power phenotypes. We were motivated by studies of functional connectivity and sleep spindles in autism to study these EEG readouts in children with AS...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29706350/a-saturation-mutagenesis-approach-to-understanding-pten-lipid-phosphatase-activity-and-genotype-phenotype-relationships
#12
Taylor L Mighell, Sara Evans-Dutson, Brian J O'Roak
Phosphatase and tensin homolog (PTEN) is a tumor suppressor frequently mutated in diverse cancers. Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) and autism spectrum disorder (ASD). To empower new insights into PTEN function and clinically relevant genotype-phenotype relationships, we systematically evaluated the effect of PTEN mutations on lipid phosphatase activity in vivo. Using a massively parallel approach that leverages an artificial humanized yeast model, we derived high-confidence estimates of functional impact for 7,244 single amino acid PTEN variants (86% of possible)...
April 23, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29705446/the-effects-of-different-combinations-of-perceptual-motor-exercises-music-and-vitamin-d-supplementation-on-the-nerve-growth-factor-in-children-with-high-functioning-autism
#13
Hadi Moradi, Mehdi Sohrabi, Hamidreza Taheri, Ezzat Khodashenas, Ahmadreza Movahedi
The present study investigated the effects of different combinations of perceptual-motor exercises, music, and Vitamin D consumption on the nerve growth factor (NGF) in children with high-functioning autism. 48 children with autism, aged between six and nine years, were divided into four groups: Group A- perceptual-motor activities along with music (n = 12); Group B-Vitamin D supplementation (n = 12); Group C-perceptual-motor activities along with music and Vitamin D (n = 12); and Group D-control (n = 12)...
May 2018: Complementary Therapies in Clinical Practice
https://www.readbyqxmd.com/read/29701857/early-adaptive-functioning-trajectories-in-preschoolers-with-autism-spectrum-disorders
#14
Martina Franchini, Daniela Zöller, Edouard Gentaz, Bronwyn Glaser, Hilary Wood de Wilde, Nada Kojovic, Stephan Eliez, Marie Schaer
Background: In preschoolers with autism spectrum disorder (ASD) symptom, severity has a negative impact on the development of adaptive functioning, with critical consequences on the quality of life of those children. Developmental features such as reduced social interest or the presence of behavioral problems can further impede daily life learning experiences. Objectives: The first aim of this study is to confirm the negative impact of high symptom severity on adaptive functioning trajectories in preschoolers with ASD...
April 25, 2018: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/29698767/regulation-of-neural-differentiation-synaptic-scaling-and-animal-behavior-by-mecp2-phophorylation
#15
Xiaofen Zhong, Hongda Li, Jason Kim, Qiang Chang
Highly expressed in the mammalian brain and widely distributed across the genome, MeCP2 is a key player in recognizing modified DNA and interpreting the epigenetic information encoded in different DNA methylation/hydroxymethylation patterns. Alterations in sequence or copy number of the X-linked human MECP2 gene cause either Rett syndrome (RTT) or MECP2 duplication syndrome. Alterations in MECP2 levels have also been identified in patients with autism. To fully understand the significant role of MECP2 in regulating the development and function of the nervous system, it is important to study all aspects of MeCP2 function...
April 23, 2018: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/29689375/interhemispheric-alpha-band-hypoconnectivity-in-children-with-autism-spectrum-disorder
#16
Abigail Dickinson, Charlotte DiStefano, Yin-Ying Lin, Aaron Wolfe Scheffler, Damla Senturk, Shafali Spurling Jeste
No abstract text is available yet for this article.
April 22, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29682383/polysubstance-and-behavioral-addictions-in-a-patient-with-bipolar-disorder-role-of-lifetime-subthreshold-autism-spectrum
#17
Liliana Dell'Osso, Ciro Conversano, Martina Corsi, Carlo A Bertelloni, Ivan M Cremone, Barbara Carpita, Manuel G Carbone, Camilla Gesi, Claudia Carmassi
This case report draws attention to the potential relevance of undetected autism spectrum symptoms in a bipolar patient with high work functioning showing a peculiar addictive profile with impulsive and antisocial behaviors. A 23-year-old man with a diagnosis of Bipolar Disorder (BD) and Substance Use Disorder (SUD) was hospitalized at the Psychiatric Clinic of the University of Pisa for diuretics and β -2 adrenergic agonist abuse in a remission phase of benzodiazepines and substance abuse. He reported a history of behavioral addictions in the framework of a global high work functioning with particular skills in computer science...
2018: Case Reports in Psychiatry
https://www.readbyqxmd.com/read/29681622/analysis-of-182-cerebral-palsy-transcriptomes-points-to-dysregulation-of-trophic-signalling-pathways-and-overlap-with-autism
#18
Clare L van Eyk, Mark A Corbett, Alison Gardner, Bregje W van Bon, Jessica L Broadbent, Kelly Harper, Alastair H MacLennan, Jozef Gecz
Cerebral palsy (CP) is the most common motor disability of childhood. It is characterised by permanent, non-progressive but not unchanging problems with movement, posture and motor function, with a highly heterogeneous clinical spectrum and frequent neurodevelopmental comorbidities. The aetiology of CP is poorly understood, despite recent reports of a genetic contribution in some cases. Here we demonstrate transcriptional dysregulation of trophic signalling pathways in patient-derived cell lines from an unselected cohort of 182 CP-affected individuals using both differential expression analysis and weighted gene co-expression network analysis (WGCNA)...
April 23, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29670509/altered-gene-regulatory-function-of-kdm5c-by-a-novel-mutation-associated-with-autism-and-intellectual-disability
#19
Christina N Vallianatos, Clara Farrehi, Michael J Friez, Margit Burmeister, Catherine E Keegan, Shigeki Iwase
Intellectual disability (ID) affects up to 2% of the population world-wide and often coincides with other neurological conditions such as autism spectrum disorders. Mutations in KDM5C cause Mental Retardation, X-linked, Syndromic, Claes-Jensen type (MRXSCJ, OMIM #300534) and are one of the most common causes of X-linked ID. KDM5C encodes a histone demethylase for di- and tri-methylated histone H3 lysine 4 (H3K4me2/3), which are enriched in transcriptionally engaged promoter regions. KDM5C regulates gene transcription; however, it remains unknown whether removal of H3K4me is fully responsible for KDM5C-mediated gene regulation...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29660410/the-spatial-and-developmental-expression-of-mouse-vwa8-von-willebrand-domain-containing-protein-8
#20
Brian S Grewe, Janet E Richmond, David E Featherstone
The Drosophila gene c12.2 was isolated in a screen examining mRNA binding proteins. Drosophila c12.2 is the mouse Vwa8 homolog. Various genome-wide associated studies have linked human Vwa8 to both neurological and oncological pathologies, which include autism, bipolar disorder, comorbid migraine, and acute myeloid leukemia, however, the function and role of the VWA8 protein remain poorly understood. To further analyze the Vwa8 gene in mouse, gene structure, protein homology modeling, and gene expression patterns were examined throughout mouse development...
April 13, 2018: Gene Expression Patterns: GEP
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