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https://www.readbyqxmd.com/read/30327586/alpha-waves-as-a-neuromarker-of-autism-spectrum-disorder-the-challenge-of-reproducibility-and-heterogeneity
#1
Aline Lefebvre, Richard Delorme, Catherine Delanoë, Frederique Amsellem, Anita Beggiato, David Germanaud, Thomas Bourgeron, Roberto Toro, Guillaume Dumas
Background: There is no consensus in the literature concerning the presence of abnormal alpha wave profiles in patients with autism spectrum disorder (ASD). This may be due to phenotypic heterogeneity among patients as well as the limited sample sizes utilized. Here we present our results of alpha wave profile analysis based on a sample larger than most of those in the field, performed using a robust processing pipeline. Methods: We compared the alpha waves profiles at rest in children with ASD to those of age-, sex-, and IQ-matched control individuals...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/30324796/high-prevalence-of-syndromic-disorders-in-patients-with-non-isolated-central-precocious-puberty
#2
Selmen Wannes, Monique Elmaleh-Bergès, Dominique Simon, Delphine Zénaty, Laetitia Martinerie, Caroline Storey, Georges Gelwane, Anne Paulsen, Emmanuel Ecosse, Nicolas De Roux, Jean Claude Carel, Juliane Léger
OBJECTIVE: Non-idiopathic CPP is caused by acquired or congenital hypothalamic lesions visible on MRI or is associated with various complex genetic and/or syndromic disorders. This study investigated the different types and prevalence of non-isolated CPP phenotypes. DESIGN AND METHODS: This observational cohort study included all patients identified as having non-idiopathic CPP in the database of a single academic pediatric care center over a period of 11.5 years...
August 14, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/30304677/sensitive-periods-for-cerebellar-mediated-autistic-like-behaviors
#3
Peter T Tsai, Stephanie Rudolph, Chong Guo, Jacob Ellegood, Jennifer M Gibson, Samantha M Schaeffer, Jazmin Mogavero, Jason P Lerch, Wade Regehr, Mustafa Sahin
Despite a prevalence exceeding 1%, mechanisms underlying autism spectrum disorders (ASDs) are poorly understood, and targeted therapies and guiding parameters are urgently needed. We recently demonstrated that cerebellar dysfunction is sufficient to generate autistic-like behaviors in a mouse model of tuberous sclerosis complex (TSC). Here, using the mechanistic target of rapamycin (mTOR)-specific inhibitor rapamycin, we define distinct sensitive periods for treatment of autistic-like behaviors with sensitive periods extending into adulthood for social behaviors...
October 9, 2018: Cell Reports
https://www.readbyqxmd.com/read/30294994/aetiology-of-childhood-apraxia-of-speech-a-clinical-practice-update-for-paediatricians
#4
Angela T Morgan, Richard Webster
Childhood apraxia of speech (CAS) is a rare disorder of childhood that can leave a watermark of the impacts throughout the lifetime. Since being first described in the 1950s, aetiological insights have been limited. At a neurobiological level, clinical MRI scans fail to reveal overt neural anomalies in individual cases with CAS, although quantitative MRI methods have revealed subtle brain anomalies at a group level. Dramatic insights, however, occurred in the past decade from the discovery of genetic pathways underlying the phenotype...
October 2018: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/30283035/dose-response-of-the-16p11-2-distal-copy-number-variant-on-intracranial-volume-and-basal-ganglia
#5
Ida Elken Sønderby, Ómar Gústafsson, Nhat Trung Doan, Derrek Paul Hibar, Sandra Martin-Brevet, Lars T Westlye, Sébastien Jacquemont, Srdjan Djurovic, Hreinn Stefánsson, Kari Stefánsson, Paul M Thompson, Ole A Andreassen
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = -0...
October 3, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/30282004/clustering-based-multi-view-network-fusion-for-estimating-brain-network-atlases-of-healthy-and-disordered-populations
#6
Salma Dhifallah, Islem Rekik
BACKGROUND: While several research methods were developed to estimate individual-based representations of brain connectional wiring (i.e., a connectome), traditionally captured using multimodal MRI data (e.g., functional and diffusion MRI), very limited works aimed to estimate brain network atlas for a population of connectomes. Estimating well-representative brain templates is a key step for group comparison studies. However, estimating a network atlas for a population of multi-source brain connectomes lying on different manifolds is absent...
September 30, 2018: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/30280929/topology-of-the-structural-social-brain-network-in-typical-adults
#7
Longchuan Li, Jocelyne Bachevalier, Xiaoping P Hu, Ami Klin, Todd Preuss, Sarah Shultz, Warren Jones
OBJECTIVE: Although a large body of research has identified discrete neuroanatomical regions involved in social cognition and behavior (the 'social brain'), the existing findings are based largely on studies of specific brain structures defined within the context of particular tasks or for specific types of social behavior. The objective of the current work is to view these regions as nodes of a larger collective network and to quantitatively characterize both the topology of that network and the relative criticality of its many nodes...
October 3, 2018: Brain Connectivity
https://www.readbyqxmd.com/read/30280304/machine-learning-approach-to-identify-a-resting-state-functional-connectivity-pattern-serving-as-an-endophenotype-of-autism-spectrum-disorder
#8
Bun Yamagata, Takashi Itahashi, Junya Fujino, Haruhisa Ohta, Motoaki Nakamura, Nobumasa Kato, Masaru Mimura, Ryu-Ichiro Hashimoto, Yuta Aoki
Endophenotype refers to a measurable and heritable component between genetics and diagnosis, and the same endophenotype is present in both individuals with a diagnosis and their unaffected siblings. Determination of the neural correlates of an endophenotype and diagnosis is important in autism spectrum disorder (ASD). However, prior studies enrolling individuals with ASD and their unaffected siblings have generally included only one group of typically developing (TD) subjects; they have not accounted for differences between TD siblings...
October 2, 2018: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/30279084/diagnosis-of-tuberous-sclerosis-complex-in-the-fetus
#9
REVIEW
Pinelopi Dragoumi, Finbar O'Callaghan, Dimitrios I Zafeiriou
Tuberous sclerosis complex is a dominantly inherited genetic disorder of striking clinical variability. It is caused by mutations in either TSC1 or TSC2 gene, which regulate cell growth and proliferation by inhibition of mTORC1 signaling. TS is characterized by the development of benign tumors in many tissues and organs and its neurological manifestations include epilepsy, autism, cognitive and behavioral dysfunction, and giant cell tumors. With mechanism-based mTOR inhibitors therapy now available for many of its manifestations, early diagnosis of TSC is very important in order to offer appropriate care, long-term surveillance and parental counseling...
September 12, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/30274651/atypical-functional-connectivity-of-amygdala-related-to-reduced-symptom-severity-in-children-with-autism
#10
Inna Fishman, Annika C Linke, Janice Hau, Ruth A Carper, Ralph-Axel Müller
OBJECTIVE: Converging evidence indicates that brain abnormalities in autism spectrum disorders (ASDs) involve atypical network connectivity. Given the central role of social deficits in the ASD phenotype, this investigation examined functional connectivity of the amygdala-a brain structure critically involved in processing of social information-in children and adolescents with ASDs, as well as age-dependent changes and links with clinical symptoms. METHOD: Resting-state functional magnetic resonance imaging (rs-fMRI) data from 55 participants with ASDs and 50 typically developing (TD) controls, aged 7 to 17 years, were included...
October 2018: Journal of the American Academy of Child and Adolescent Psychiatry
https://www.readbyqxmd.com/read/30270514/aberrant-functional-connectivity-of-inhibitory-control-networks-in-children-with-autism-spectrum-disorder
#11
Willa Voorhies, Dina R Dajani, Shruti G Vij, Sahana Shankar, Turel Ozerk Turan, Lucina Q Uddin
Development of inhibitory control is a core component of executive function processes and a key aspect of healthy development. Children with autism spectrum disorder (ASD) show impairments in performance on inhibitory control tasks. Nevertheless, the research on the neural correlates of these impairments is inconclusive. Here, we explore the integrity of inhibitory control networks in children with ASD and typically developing (TD) children using resting state functional Magnetic Resonance Imagaing (MRI). In a large multisite sample, we find evidence for significantly greater functional connectivity (FC) of the right inferior frontal junction (rIFJ) with the posterior cingulate gyrus, and left and right frontal poles in children with ASD compared with TD children...
October 1, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/30270033/extra-axial-cerebrospinal-fluid-in-high-risk-and-normal-risk-children-with-autism-aged-2-4-years-a-case-control-study
#12
Mark D Shen, Christine W Nordahl, Deana D Li, Aaron Lee, Kathleen Angkustsiri, Robert W Emerson, Sally J Rogers, Sally Ozonoff, David G Amaral
BACKGROUND: We previously showed, in two separate cohorts, that high-risk infants who were later diagnosed with autism spectrum disorder had abnormally high extra-axial cerebrospinal fluid (CSF) volume from age 6-24 months. The presence of increased extra-axial CSF volume preceded the onset of behavioural symptoms of autism and was predictive of a later diagnosis of autism spectrum disorder. In this study, we aimed to establish whether increased extra-axial CSF volume is found in a large, independent sample of children diagnosed with autism spectrum disorder, whether extra-axial CSF remains abnormally increased beyond infancy, and whether it is present in both normal-risk and high-risk children with autism...
September 27, 2018: Lancet Psychiatry
https://www.readbyqxmd.com/read/30262887/neurochemical-evidence-for-differential-effects-of-acute-and-repeated-oxytocin-administration
#13
Seico Benner, Yuta Aoki, Takamitsu Watanabe, Nozomi Endo, Osamu Abe, Miho Kuroda, Hitoshi Kuwabara, Yuki Kawakubo, Hidemasa Takao, Akira Kunimatsu, Kiyoto Kasai, Haruhiko Bito, Masaki Kakeyama, Hidenori Yamasue
A discrepancy in oxytocin's behavioral effects between acute and repeated administrations indicates distinct underlying neurobiological mechanisms. The current study employed a combination of human clinical trial and animal study to compare neurochemical changes induced by acute and repeated oxytocin administrations. Human study analyzed medial prefrontal metabolite levels by using 1 H-magnetic resonance spectroscopy, a secondary outcome in our randomized, double-blind, placebo-controlled crossover trial of 6 weeks intranasal administrations of oxytocin (48 IU/day) and placebo within-subject design in 17 psychotropic-free high-functioning men with autism spectrum disorder...
September 27, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/30251763/parsing-brain-structural-heterogeneity-in-males-with-autism-spectrum-disorder-reveals-distinct-clinical-subtypes
#14
Heng Chen, Lucina Q Uddin, Xiaonan Guo, Jia Wang, Runshi Wang, Xiaomin Wang, Xujun Duan, Huafu Chen
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with considerable neuroanatomical heterogeneity. Thus, how and to what extent the brains of individuals with ASD differ from each other is still unclear. In this study, brain structural MRI data from 356 right-handed, male subjects with ASD and 403 right-handed male healthy controls were selected from the Autism Brain Image Data Exchange database (age range 5-35 years old). Voxel-based morphometry preprocessing steps were conducted to compute the gray matter volume maps for each subject...
September 25, 2018: Human Brain Mapping
https://www.readbyqxmd.com/read/30250303/prospective-research-in-infants-with-mild-encephalopathy-identified-in-the-first-six-hours-of-life-neurodevelopmental-outcomes-at-18-22-months
#15
Lina F Chalak, Kim-Anh Nguyen, Chatchay Prempunpong, Roy Heyne, Sudhin Thayyil, Seetha Shankaran, Abbot R Laptook, Nancy Rollins, Athina Pappas, Louise Koclas, Birju Shah, Paolo Montaldo, Benyachalee Techasaensiri, Pablo J Sánchez, Guilherme Sant'Anna
BACKGROUND: Studies of early childhood outcomes of mild hypoxic-ischemic encephalopathy (HIE) identified in the first 6 h of life are lacking. OBJECTIVE: To evaluate neurodevelopmental outcomes at 18-22 months of PRIME study. STUDY DESIGN: Multicenter, prospective study of mild HIE defined as ≥1 abnormality using the modified Sarnat within 6 h of birth and not meeting cooling criteria. Primary outcome was disability with mild: Bayley III cognitive 70-84 or ≥85 and either Gross Motor Function Classification System (GMFCS) 1 or 2, seizures, or hearing deficit; moderate: cognitive 70-84 and either GMFCS 2, seizures, or hearing deficit; severe: cognitive <70, GMFCS 3-5...
September 13, 2018: Pediatric Research
https://www.readbyqxmd.com/read/30181940/co-occurrence-of-gomez-lopez-hernandez-syndrome-and-autism-spectrum-disorder-case-report-with-review-of-literature
#16
Bakur Kotetishvili, Malkhaz Makashvili, Michael Okujava, Alexandre Kotetishvili, Tamar Kopadze
We report on Gomez-Lopez-Hernandez syndrome (GLHS) in a Caucasian patient, Georgian, 36 months, male, only child born to non-consanguineous parents. There were no similar cases in the family and among close relatives. MRI study confirmed rhombencephalosynapsis (fusion of cerebellar hemispheres in combination with the agenesis of cerebellar vermis) and mild dilation of the lateral ventricles. Other main findings are bilateral parieto-temporal alopecia and brachiturricephaly (broad skull shape and tower-like elongation of the cranium in the vertical axis), low-set posteriorly retracted ears, strabismus (in the right eye), hypotonia (Beighton scale score - 6) and ataxia (trouble maintaining balance)...
August 2018: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/30172895/a-systematic-review-of-structural-mri-biomarkers-in-autism-spectrum-disorder-a-machine-learning-perspective
#17
REVIEW
Alex M Pagnozzi, Eugenia Conti, Sara Calderoni, Jurgen Fripp, Stephen E Rose
Autism Spectrum Disorder (ASD) affects approximately 1% of the population and leads to impairments in social interaction, communication and restricted, repetitive behaviours. Establishing robust neuroimaging biomarkers of ASD using structural magnetic resonance imaging (MRI) is an important step for diagnosing and tailoring treatment, particularly early in life when interventions can have the greatest effect. However currently, there is mixed findings on the structural brain changes associated with autism. Therefore in this systematic review, recent (post-2007), high-resolution (3 T) MRI studies investigating brain morphology associated with ASD have been collated to identify robust neuroimaging biomarkers of ASD...
August 30, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/30167371/structural-neuroimaging-as-clinical-predictor-a-review-of-machine-learning-applications
#18
REVIEW
José María Mateos-Pérez, Mahsa Dadar, María Lacalle-Aurioles, Yasser Iturria-Medina, Yashar Zeighami, Alan C Evans
In this paper, we provide an extensive overview of machine learning techniques applied to structural magnetic resonance imaging (MRI) data to obtain clinical classifiers. We specifically address practical problems commonly encountered in the literature, with the aim of helping researchers improve the application of these techniques in future works. Additionally, we survey how these algorithms are applied to a wide range of diseases and disorders (e.g. Alzheimer's disease (AD), Parkinson's disease (PD), autism, multiple sclerosis, traumatic brain injury, etc...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/30147646/clinical-phenotypes-associated-to-engrailed-2-gene-alterations-in-a-series-of-neuropediatric-patients
#19
Francisco Carratala-Marco, Patricia Andreo-Lillo, Marta Martinez-Morga, Teresa Escamez-Martínez, Arancha Botella-López, Carlos Bueno, Salvador Martinez
The engrailed homeobox protein (EN) plays an important role in the regionalization of the neural tube. EN distribution regulates the cerebellum and midbrain morphogenesis, as well as retinotectal synaptogenesis. In humans, the EN1 and EN2 genes code for the EN family of transcription factors. Genetic alterations in the expression of EN2 have been related to different neurologic conditions and more particularly to autism spectrum disorders (ASD). We aimed to study and compare the phenotypes of three series of patients: (1) patients with encephalic structural anomalies (ESA) and abnormalities in the genomic (DNA) and/or transcriptomic (RNAm) of EN2 (EN2-g), (2) ESA patients having other gene mutations (OG-g), and (3) ESA patients free of these mutations (NM-g)...
2018: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/30137241/atypical-local-and-distal-patterns-of-occipito-frontal-functional-connectivity-are-related-to-symptom-severity-in-autism
#20
R Joanne Jao Keehn, Sangeeta Nair, Ellyn B Pueschel, Annika C Linke, Inna Fishman, Ralph-Axel Müller
Autism spectrum disorders (ASDs) are increasingly prevalent neurodevelopmental disorders characterized by sociocommunicative impairments. Growing consensus indicates that neurobehavioral abnormalities require explanation in terms of interconnected networks. Despite theoretical speculations about increased local and reduced distal connectivity, links between local and distal functional connectivity have not been systematically investigated in ASDs. Specifically, it remains open whether hypothesized local overconnectivity may reflect isolated versus overly integrative processing...
August 23, 2018: Cerebral Cortex
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