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Genetic tests autism

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https://www.readbyqxmd.com/read/29445122/deep-phenotyping-of-speech-and-language-skills-in-individuals-with-16p11-2-deletion
#1
Cristina Mei, Evelina Fedorenko, David J Amor, Amber Boys, Caitlyn Hoeflin, Peter Carew, Trent Burgess, Simon E Fisher, Angela T Morgan
Recurrent deletions of a ~600-kb region of 16p11.2 have been associated with a highly penetrant form of childhood apraxia of speech (CAS). Yet prior findings have been based on a small, potentially biased sample using retrospectively collected data. We examine the prevalence of CAS in a larger cohort of individuals with 16p11.2 deletion using a prospectively designed assessment battery. The broader speech and language phenotype associated with carrying this deletion was also examined. 55 participants with 16p11...
February 14, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29416845/ehmt1-mosaicism-in-apparently-unaffected-parents-is-associated-with-autism-spectrum-disorder-and-neurocognitive-dysfunction
#2
Anneke de Boer, Karlijn Vermeulen, Jos I M Egger, Joost G E Janzing, Nicole de Leeuw, Hermine E Veenstra-Knol, Nicolette S den Hollander, Hans van Bokhoven, Wouter Staal, Tjitske Kleefstra
Background: Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic defect that was initially detected in their children. A germline genetic defect affecting the euchromatin histone methyltransferase 1 (EHMT1) gene causes Kleefstra syndrome, which is associated with the typical triad of distinct facial appearance, (childhood) hypotonia, and intellectual disability...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29413639/biotin-and-acetazolamide-for-treatment-of-an-unusual-child-with-autism-plus-lack-of-nail-and-hair-growth
#3
Paul J Benke, Michael Duchowny, Dianalee McKnight
BACKGROUND: Patients with autism spectrum disorder and developmental delay or encephalopathy rarely demonstrate no or negligible hair and nail growth, suggesting a biotin-responsive clinical disorder. METHODS: A ten-year-old girl presented with features of autism spectrum disorder, isolated headaches, and episodes of headaches and limb shaking. Her medical history revealed that her hair and nails did not grow. Administration of biotin restored her nail and hair growth and improved intellectual ability and school performance...
February 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29410608/toward-a-neuroscience-of-adult-cognitive-developmental-theory
#4
Fady Girgis, Darrin J Lee, Amir Goodarzi, Jochen Ditterich
Piaget's genetic epistemology has provided the constructivist approach upon which child developmental theories were founded, in that infants are thought to progress through distinct cognitive stages until they reach maturity in their early 20's. However, it is now well established that cognition continues to develop after early adulthood, and several "neo-Piagetian" theories have emerged in an attempt to better characterize adult cognitive development. For example, Kegan's Constructive Developmental Theory (CDT) argues that the thought processes used by adults to construct their reality change over time, and reaching higher stages of cognitive development entails becoming objectively aware of emotions and beliefs that were previously in the realm of the subconscious...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29402632/prospective-longitudinal-overnight-video-eeg-evaluation-in-phelan-mcdermid-syndrome
#5
Omar I Khan, Xiangping Zhou, Jill Leon, Riley Kessler, Thomas Gaughan, Precilla D'Souza, Andrea Gropman, Ninette Cohen, Owen Rennert, Ashura Buckley, Sara Inati, Audrey Thurm
OBJECTIVE: Phelan-McDermid Syndrome (PMS) is a rare genetic condition associated with loss of function mutations, including deletions, in the chromosome 22q13 region. This PMS phenotype includes intellectual disability, often minimal to absent verbal skills, and other neurologic features including autism spectrum disorder and seizures. Reports indicate seizures and abnormal electroencephalograms (EEGs) in this population, but previous studies do not describe EEG findings during sleep or prognostic value of abnormal EEG over any time period...
February 2, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29398931/syndromic-autism-spectrum-disorders-moving-from-a-clinically-defined-to-a-molecularly-defined-approach
#6
Bridget A Fernandez, Stephen W Scherer
Autism spectrum disorder (ASD) encompasses a group of neurodevelopmental conditions diagnosed solely on the basis of behavioral assessments that reveal social deficits. Progress has been made in understanding its genetic underpinnings, but most ASD-associated genetic variants, which include copy number variants (CNVs) and mutations in ASD-risk genes, account for no more than 1 % of ASD cases. This high level of genetic heterogeneity leads to challenges obtaining and interpreting genetic testing in clinical settings...
December 2017: Dialogues in Clinical Neuroscience
https://www.readbyqxmd.com/read/29396406/dlgap1-knockout-mice-exhibit-alterations-of-the-postsynaptic-density-and-selective-reductions-in-sociability
#7
M P Coba, M J Ramaker, E V Ho, S L Thompson, N H Komiyama, S G N Grant, J A Knowles, S C Dulawa
The scaffold protein DLGAP1 is localized at the post-synaptic density (PSD) of glutamatergic neurons and is a component of supramolecular protein complexes organized by PSD95. Gain-of-function variants of DLGAP1 have been associated with obsessive-compulsive disorder (OCD), while haploinsufficient variants have been linked to autism spectrum disorder (ASD) and schizophrenia in human genetic studies. We tested male and female Dlgap1 wild type (WT), heterozygous (HT), and knockout (KO) mice in a battery of behavioral tests: open field, dig, splash, prepulse inhibition, forced swim, nest building, social approach, and sucrose preference...
February 2, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29377611/developmental-social-communication-deficits-in-the-shank3-rat-model-of-phelan-mcdermid-syndrome-and-autism-spectrum-disorder
#8
Elizabeth L Berg, Nycole A Copping, Josef K Rivera, Michael C Pride, Milo Careaga, Melissa D Bauman, Robert F Berman, Pamela J Lein, Hala Harony-Nicolas, Joseph D Buxbaum, Jacob Ellegood, Jason P Lerch, Markus Wöhr, Jill L Silverman
Mutations in the SHANK3 gene have been discovered in autism spectrum disorder (ASD), and the intellectual disability, Phelan-McDermid Syndrome. This study leveraged a new rat model of Shank3 deficiency to assess complex behavioral phenomena, unique to rats, which display a richer social behavior repertoire than mice. Uniquely detectable emissions of ultrasonic vocalizations (USV) in rats serve as situation-dependent affective signals and accomplish important communicative functions. We report, for the first time, a call and response acoustic playback assay of bidirectional social communication in juvenile Shank3 rats...
January 29, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29362445/abnormal-behaviours-relevant-to-neurodevelopmental-disorders-in-kirrel3-knockout-mice
#9
Tomoko Hisaoka, Tadasuke Komori, Toshio Kitamura, Yoshihiro Morikawa
In the nervous system, Kirrel3 is involved in neuronal migration, axonal fasciculation, and synapse formation. Recently, genetic links have been reported between mutations in the KIRREL3 gene and increased risk of neurodevelopmental disorders, including autism spectrum disorder (ASD) and intellectual disability. To elucidate the causal relationship between KIRREL3 deficiency and behavioural abnormalities relevant to neurodevelopmental disorders, we generated global Kirrel3-knockout (Kirrel3-/-) mice and investigated the detailed behavioural phenotypes...
January 23, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330487/a-biomarker-characterizing-neurodevelopment-with-applications-in-autism
#10
Di Wu, Jorge V José, John I Nurnberger, Elizabeth B Torres
Despite great advances in neuroscience and genetic studies, our understanding of neurodevelopmental disorders is still quite limited. An important reason is not having objective psychiatric clinical tests. Here we propose a quantitative neurodevelopment assessment by studying natural movement outputs. Movement is central to behaviors: It involves complex coordination, temporal alterations, and precise dynamic controls. We carefully analyzed the continuous movement output data, collected with high definition electromagnetic sensors at millisecond time scales...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29327328/genetic-analysis-of-very-obese-children-with-autism-spectrum-disorder
#11
Herman D Cortes, Rachel Wevrick
Autism spectrum disorder (ASD) is defined by the triad of deficits in social interactions, deficits in communication, and repetitive behaviors. Common co-morbidities in syndromic forms of ASD include intellectual disability, seizures, and obesity. We asked whether very obese children with ASD had different behavioral, physical and genetic characteristics compared to children with ASD who were not obese. We found that very obese children with ASD had significantly poorer scores on standardized behavioral tests...
January 11, 2018: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29325626/fragile-x-syndrome-and-fragile-x-associated-tremor-ataxia-syndrome
#12
Deborah A Hall, Elizabeth Berry-Kravis
Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1. It is associated with developmental delay, autism spectrum disorder, and seizures. Fragile X-associated tremor/ataxia syndrome is a progressive neurodegenerative disease that occurs in premutation carriers of 55-200 CGG repeats in FMR1 and is characterized by kinetic tremor, gait ataxia, parkinsonism, executive dysfunction, and neuropathy...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29309384/toe-walking-a-neurological-perspective-after-referral-from-pediatric-orthopaedic-surgeons
#13
Katherine B Haynes, Robert L Wimberly, Jonathan M VanPelt, Chan-Hee Jo, Anthony I Riccio, Mauricio R Delgado
BACKGROUND: Toe walking (TW) in children is often idiopathic in origin. Our purpose was to determine the incidence of a neurological etiology for TW in patients seen in the neurology clinic after referral from pediatric orthopaedic surgeons. METHODS: We performed an Institutional Review Board approved retrospective review of 174 patients referred to the neurology clinic from orthopaedic surgeons at an academic pediatric tertiary care center between January 2010 and September 2015...
January 24, 2018: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29304372/a-comprehensive-workflow-for-read-depth-based-identification-of-copy-number-variation-from-whole-genome-sequence-data
#14
Brett Trost, Susan Walker, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Jeffrey R MacDonald, Wilson W L Sung, Sergio L Pereira, Joe Whitney, Ada J S Chan, Giovanna Pellecchia, Miriam S Reuter, Si Lok, Ryan K C Yuen, Christian R Marshall, Daniele Merico, Stephen W Scherer
A remaining hurdle to whole-genome sequencing (WGS) becoming a first-tier genetic test has been accurate detection of copy-number variations (CNVs). Here, we used several datasets to empirically develop a detailed workflow for identifying germline CNVs >1 kb from short-read WGS data using read depth-based algorithms. Our workflow is comprehensive in that it addresses all stages of the CNV-detection process, including DNA library preparation, sequencing, quality control, reference mapping, and computational CNV identification...
January 4, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29282878/is-food-refusal-in-autistic-children-related-to-tas2r38-genotype
#15
Maria Pia Riccio, Chiara Franco, Rossella Negri, Roberta Ida Ferrentino, Roberta Maresca, Elisa D'alterio, Luigi Greco, Carmela Bravaccio
Several studies suggest that atypical eating behaviors, in particular food selectivity, are more frequent in children with autism spectrum disorder (ASD). A link between bitter taste perception, namely PROP/PTC sensitivity and food preferences is known in healthy children. The aim of this study is to investigate whether genetic variants of the TAS2R38 taste receptor responsible for different bitter sensitivity could affect foods preferences and consequently food refusal in ASD children. We recruited 43 children with ASD and 41 with normotypic development (TD) with or without food selectivity, aged between 2 and 11 years...
December 28, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29275387/syndrome-of-x-linked-intellectual-disability-epilepsy-progressive-brain-atrophy-and-large-head-associated-with-slc9a6-mutation
#16
Hansashree Padmanabha, Arushi Gahlot Saini, Jitendra Kumar Sahu, Pratibha Singhi
SLC9A6 gene encodes for a sodium/hydrogen exchanger-6 protein mainly involved in endosomal trafficking and maintaining intraluminal pH. Loss of function mutations in SLC9A6 gene in children has been associated with Christianson syndrome and autism spectrum disorder. We describe a 3-year-old boy with intellectual disability, infantile-onset drug-refractory epilepsy, progressive brain atrophy and large head with a novel missense hemizygous mutation in exon 16 of the SLC9A6 gene on chromosome X. Presence of large head, early developmental regression and progressive cerebral atrophy expand the phenotypic spectrum of SLC9A6 mutations...
December 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29260439/eye-movement-research-in-the-twenty-first-century-a-window-to-the-brain-mind-and-more
#17
EDITORIAL
Aasef G Shaikh, David S Zee
The study of eye movements not only addresses debilitating neuro-ophthalmological problems but has become an essential tool of basic neuroscience research. Eye movements are a classic way to evaluate brain function-traditionally in disorders affecting the brainstem and cerebellum. Abnormalities of eye movements have localizing value and help narrow the differential diagnosis of complex neurological problems. More recently, using sophisticated behavioral paradigms, measurement of eye movements has also been applied to disorders of the thalamus, basal ganglia, and cerebral cortex...
December 19, 2017: Cerebellum
https://www.readbyqxmd.com/read/29250725/angelman-syndrome-due-to-ube3a-gene-mutation
#18
Jyotindra Narayan Goswami, Jitendra Kumar Sahu, Pratibha Singhi
A 12-y-old boy presented with developmental delay, autism, epilepsy, limb tremors and behavioral problems which posed a diagnostic challenge. Though his clinical profile and electroencephalogram were suggestive of Angelman syndrome, initial genetic tests were unyielding. Exome sequencing revealed a previously unreported mutation of Ubiquitin Protein Ligase E3A (UBE3A) gene, confirming the diagnosis of Angelman syndrome. The case is aimed to sensitize pediatricians about Angelman syndrome and to highlight the role of sequential investigations in establishing the diagnosis...
December 18, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29217683/insulin-like-growth-factor-ii-targets-the-mtor-pathway-to-reverse-autism-like-phenotypes-in-mice
#19
Adam B Steinmetz, Sarah A Stern, Amy S Kohtz, Giannina Descalzi, Cristina M Alberini
Autism spectrum disorder (ASD) is a developmental disability characterized by impairments in social interaction and repetitive behavior, and is also associated with cognitive deficits. There is no current treatment that can ameliorate most of the ASD symptomatology; thus, identifying novel therapies is urgently needed. We used male BTBR T+Itpr3tf /J (BTBR) mice, a model that reproduces most of the core behavioral phenotypes of ASD, to test the effects of systemic administration of insulin-like growth factor II (IGF-II), a polypeptide that crosses the blood-brain barrier and acts as a cognitive enhancer...
January 24, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29209394/polymorphism-in-the-promoter-region-of-sema5a-is-associated-with-sociality-traits-in-korean-subjects-with-autism-spectrum-disorders
#20
Soon Ae Kim, Boong-Nyun Kim, Jae-Won Kim, Min-Sup Shin, Tae-Won Park, Jung-Woo Son, Un-Sun Chung, Mira Park
In this study, we evaluated the association between autism spectrum disorders (ASDs) and 10 single-nucleotide polymorphisms (SNPs) in the 5' region of the semaphorin 5A gene (SEMA5A) for 250 Korean trios including children with ASDs. Family-based association testing and haplotype analysis revealed a statistically significant association between rs194085 and multiple sociality traits with Korean ASDs in the dominant model (p<0.001, corrected p=0.035). This indicates that genetic variations in the 5' region of SEMA5A play a role in the genetic predisposition to sociality traits in Korean ASDs...
November 2017: Psychiatry Investigation
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