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https://www.readbyqxmd.com/read/28813088/cognitive-dysfunction-in-corticobasal-degeneration
#1
Laís Machado de Oliveira, Igor Barcellos, Hélio A G Teive, Renato Puppi Munhoz
Corticobasal degeneration (CBD) was originally described as a distinct clinicopathological entity in 1967. Since then, different phenotypic presentations have emerged as possible manifestations of CBD histopathological findings. In addition, pathophysiological findings and the molecular basis have been delineated and several aspects of its cognitive manifestations have been clarified. Thus, not only the spectrum of what is currently designated as CBD has expanded, but overlap with other degenerative and even secondary disorders has made clinical diagnostic certainty even more challenging in the absence of specific and readily-available markers...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28813074/oral-narrative-of-individuals-with-fetal-alcohol-spectrum-disorder
#2
Giulia Ganthous, Natalia Freitas Rossi, Célia Maria Giacheti
Purpose: To investigate and compare the oral narrative of individuals with FASD and individuals with typical language development (TLD), as well as to correlate the narrative performance with the score from 4-Digit Diagnostic Code. Methods: Participants were 20 individuals with FASD, of both genders, with chronological age between 6 and 16 years, and 20 individuals with TLD, same gender and similar to the FASD group in age and socioeconomic status. The oral narrative was elicited using the book Frog, where are you? and the data were analyzed in terms of macrostructure, microstructure and global coherence level...
August 10, 2017: CoDAS
https://www.readbyqxmd.com/read/28812274/oxytocin-and-anxiety-disorders
#3
Michael G Gottschalk, Katharina Domschke
In the present chapter, we review the literature focusing on oxytocin (OT)-centered research in anxiety spectrum conditions, comprising separation anxiety disorder, specific phobias, social anxiety disorder (SAD), panic disorder, generalized anxiety disorder, and anxiety-related endophenotypes (e.g., trust behavior, behavioral inhibition, neuroticism, and state/trait anxiety). OT receptor gene (OXTR) polymorphisms have been implicated in gene-environment interactions with attachment style and childhood maltreatment and to influence clinical outcomes, including SAD intensity and limbic responsiveness...
August 16, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28812269/oxytocin-signaling-in-the-early-life-of-mammals-link-to-neurodevelopmental-disorders-associated-with-asd
#4
Françoise Muscatelli, Michel G Desarménien, Valery Matarazzo, Valery Grinevich
Oxytocin plays a role in various functions including endocrine and immune functions but also parent-infant bonding and social interactions. It might be considered as a main neuropeptide involved in mediating the regulation of adaptive interactions between an individual and his/her environment. Recently, a critical role of oxytocin in early life has been revealed in sensory processing and multi-modal integration that are essential for normal postnatal neurodevelopment. An early alteration in the oxytocin-system may disturb its maturation and may have short-term and long-term pathological consequences such as autism spectrum disorders...
August 16, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28811938/neuropsychological-characteristics-of-children-with-mixed-autism-and-adhd
#5
Costanza Colombi, Mohammad Ghaziuddin
Clinical heterogeneity is a well-established characteristic of autism spectrum disorder (ASD). While the comorbidity of ASD and ADHD is well known in clinical practice, relatively little research has examined the neuropsychological profile of children with ASD + ADHD. Our study showed significant differences in the neuropsychological characteristics of children with ASD + ADHD compared to those with ASD only. Children with ASD + ADHD showed higher symptoms of anxiety, worse working memory, and less empathy, as measured by the "Reading the Mind in the Eyes...
2017: Autism Research and Treatment
https://www.readbyqxmd.com/read/28811601/autonomic-versus-perceptual-accounts-for-tactile-hypersensitivity-in-autism-spectrum-disorder
#6
Hiroshi Fukuyama, Shin-Ichiro Kumagaya, Kosuke Asada, Satsuki Ayaya, Masaharu Kato
Tactile atypicality in individuals with autism spectrum disorder (ASD) has harmful effects on their everyday lives including social interactions. However, whether tactile atypicality in ASD reflects perceptual and/or autonomic processes is unknown. Here, we show that adults with ASD have hypersensitivity to tactile stimuli in the autonomic but not perceptual domain. In particular, adults with ASD showed a greater skin conductance response (SCR) to tactile stimuli compared to typically developing (TD) adults, despite an absence of differences in subjective responses...
August 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28811059/an-infant-with-epilepsy-and-recurrent-hemiplegia-due-to-compound-heterozygous-variants-in-atp1a2
#7
Colin Wilbur, Sarah E Buerki, Ilaria Guella, Eric B Toyota, Daniel M Evans, Marna B McKenzie, Anita Datta, Aspasia Michoulas, Shelin Adam, Margot I Van Allen, Tanya N Nelson, Matthew J Farrer, Mary B Connolly, Michelle Demos
BACKGROUND: Pathogenic heterozygous variants in the ATP1A2 gene have most commonly been associated with familial hemiplegic migraine. However, a wide spectrum of phenotypes that include alternating hemiplegia of childhood and epilepsy have been described. PATIENT DESCRIPTION: We describe a boy who presented at age three months with a complex phenotype that included epilepsy, nonepileptic paroxysmal events, and recurrent hemiplegia. Magnetic resonance imaging demonstrated unilateral cortical edema during a severe episode of hemiplegia that was followed by a persistent mild hemiparesis...
June 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28810924/mutational-analysis-of-col1a1-and-col1a2-genes-among-estonian-osteogenesis-imperfecta-patients
#8
Lidiia Zhytnik, Katre Maasalu, Ene Reimann, Ele Prans, Sulev Kõks, Aare Märtson
BACKGROUND: Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. The main aim of the current research was to identify the mutational spectrum of COL1A1/2 genes in Estonian patients. The small population size of Estonia provides a unique chance to explore the collagen I mutational profile of 100% of OI families in the country. METHODS: We performed mutational analysis of peripheral blood gDNA of 30 unrelated Estonian OI patients using Sanger sequencing of COL1A1 and COL1A2 genes, including all intron-exon junctions and 5'UTR and 3'UTR regions, to identify causative OI mutations...
August 15, 2017: Human Genomics
https://www.readbyqxmd.com/read/28810018/prenatal-antidepressant-use-and-autism-spectrum-disorder-reply
#9
Simone N Vigod, Tara Gomes, Joel G Ray
No abstract text is available yet for this article.
August 15, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28810014/prenatal-antidepressant-use-and-autism-spectrum-disorder
#10
Deepa Singal, Dan Chateau, Marni Brownell
No abstract text is available yet for this article.
August 15, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28809846/the-use-of-trace-eyeblink-classical-conditioning-to-assess-hippocampal-dysfunction-in-a-rat-model-of-fetal-alcohol-spectrum-disorders
#11
Tuan D Tran, Aenia Amin, Keith G Jones, Ellen M Sheffer, Lidia Ortega, Keith Dolman
Neonatal rats were administered a relatively high concentration of ethyl alcohol (11.9% v/v) during postnatal days 4-9, a time when the fetal brain undergoes rapid organizational change and is similar to accelerated brain changes that occur during the third trimester in humans. This model of fetal alcohol spectrum disorders (FASDs) produces severe brain damage, mimicking the amount and pattern of binge-drinking that occurs in some pregnant alcoholic mothers. We describe the use of trace eyeblink classical conditioning (ECC), a higher-order variant of associative learning, to assess long-term hippocampal dysfunction that is typically seen in alcohol-exposed adult offspring...
August 5, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28809652/effectiveness-of-interventions-for-caregivers-of-people-with-alzheimer-s-disease-and-related-major-neurocognitive-disorders-a-systematic-review
#12
Catherine Verrier Piersol, Kerry Canton, Susan E Connor, Ilana Giller, Stacy Lipman, Suzanne Sager
OBJECTIVE: The goal of the evidence review was to evaluate the effectiveness of interventions for caregivers of people with Alzheimer's disease and related major neurocognitive disorders that facilitate the ability to maintain participation in the caregiver role. METHOD: Scientific literature published in English between January 2006 and April 2014 was reviewed. Databases included MEDLINE, PsycINFO, CINAHL, OTseeker, and the Cochrane Database of Systematic Reviews...
September 2017: American Journal of Occupational Therapy: Official Publication of the American Occupational Therapy Association
https://www.readbyqxmd.com/read/28808839/individuals-with-autism-have-higher-8-iso-pgf2%C3%AE-levels-than-controls-but-no-correlation-with-quantitative-assay-of-paraoxonase-1-serum-levels
#13
Bianca Pop, Alexandru-Ștefan Niculae, Tudor Lucian Pop, Andreea Liana Răchișan
Autism spectrum disorder (ASD) represents a very large set of neurodevelopmental issues with diverse clinical outcomes. Various hypotheses have been put forth for the etiology of autism spectrum disorder, including issues pertaining to oxidative stress. In this study, we conducted measurements of serum 8-Iso-Prostaglanding F2 α (8-iso-PGF2α, which is the results of non-enzimatically mediated polyunsaturated fatty acid oxidation) in a population of individuals with autism and a control group of age and sex matched controls...
August 14, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28808808/ketogenic-diet-versus-gluten-free-casein-free-diet-in-autistic-children-a-case-control-study
#14
Omnia El-Rashidy, Farida El-Baz, Yasmin El-Gendy, Randa Khalaf, Dina Reda, Khaled Saad
Many diet regimens were studied for patients with autism spectrum disorder (ASD) over the past few years. Ketogenic diet is gaining attention due to its proven effect on neurological conditions like epilepsy in children. Forty-five children aged 3-8 years diagnosed with ASD based on DSM-5 criteria were enrolled in this study. Patients were equally divided into 3 groups, first group received ketogenic diet as modified Atkins diet (MAD), second group received gluten free casein free (GFCF) diet and the third group received balanced nutrition and served as a control group...
August 14, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28808521/replicative-genetic-association-study-between-functional-polymorphisms-in-avpr1a-and-social-behavior-scales-of-autism-spectrum-disorder-in-the-korean-population
#15
So Young Yang, Soon Ae Kim, Gang Min Hur, Mira Park, Jong-Eun Park, Hee Jeong Yoo
BACKGROUND: Arginine vasopressin has been shown to affect social and emotional behaviors, which is mediated by the arginine vasopressin receptor (AVPR1A). Genetic polymorphisms in the AVPR1A promoter region have been identified to be associated with susceptibility to social deficits in autism spectrum disorder (ASD). We hypothesize that alleles of polymorphisms in the promoter region of AVPR1A may differentially interact with certain transcriptional factors, which in turn affect quantitative traits, such as sociality, in children with autism...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28808508/new-onset-acute-thrombocytopenia-in-hospitalized-patients-pathophysiology-and-diagnostic-approach
#16
REVIEW
Naveed Ali, Herbert E Auerbach
Thrombocytopenia is a hematological finding commonly encountered in daily clinical practice from asymptomatic clinic patients to critically ill intensive care unit patients. A broad spectrum of etiologies and variation in clinical presentation often present a diagnostic challenge. Furthermore, concomitant presence of thrombosis and thrombocytopenia, as in cases of thrombotic thrombocytopenia, complicates the management. In hospitalized patients, new-onset thrombocytopenia is an important reason for hematology consultation...
July 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28807892/parent-mediated-intervention-training-delivered-remotely-for-children-with-autism-spectrum-disorder-living-outside-of-urban-areas-systematic-review
#17
Dave Parsons, Reinie Cordier, Sharmila Vaz, Hoe C Lee
BACKGROUND: Parent training programs for families living outside of urban areas can be used to improve the social behavior and communication skills in children with autism spectrum disorder (ASD). However, no review has been conducted to investigate these programs. OBJECTIVE: The aim of this study was to (1) systematically review the existing evidence presented by studies on parent-mediated intervention training, delivered remotely for parents having children with ASD and living outside of urban areas; (2) provide an overview of current parent training interventions used with this population; (3) and provide an overview of the method of delivery of the parent training interventions used with this population...
August 14, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28807869/a-novel-mutation-in-smoc1-and-variable-phenotypic-expression-in-two-patients-with-waardenburg-anophthalmia-syndrome
#18
Javad Jamshidi, Shokoufeh Abdollahi, Hamid Ghaedi, Elham Alehabib, Abbas Tafakhori, Somayeh Alinaghi, Marjan Chapi, Amir Hossein Johari, Hossein Darvish
Waardenburg anophthalmia syndrome (WAS) is a rare disorder that mostly affects the eyes and distal limbs. In the current study we reported two Iranian patients with WAS. The first case was a 26-year-old girl with unilateral anophthalmia, bilateral camptodactyly and clinodactyly in her hands, oligodactly in her left foot and syndactyly of the second to fifth toes in her right foot. She also had severe hearing loss in both ears. The second case was a 12-year-old boy with bilateral anophthalmia, camptodactyly in his right hand, oligodactyly in his foot, clubfoot, and cryptorchidism...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28807867/impairment-of-different-protein-domains-causes-variable-clinical-presentation-within-pitt-hopkins-syndrome-and-suggests-intragenic-molecular-syndromology-of-tcf4
#19
Maria Francesca Bedeschi, Giuseppe Marangi, Maria Rosaria Calvello, Stefania Ricciardi, Francesca Pia Chiara Leone, Marco Baccarin, Silvana Guerneri, Daniela Orteschi, Marina Murdolo, Serena Lattante, Silvia Frangella, Beth Keena, Margaret H Harr, Elaine Zackai, Marcella Zollino
Pitt-Hopkins syndrome is a neurodevelopmental disorder characterized by severe intellectual disability and a distinctive facial gestalt. It is caused by haploinsufficiency of the TCF4 gene. The TCF4 protein has different functional domains, with the NLS (nuclear localization signal) domain coded by exons 7-8 and the bHLH (basic Helix-Loop-Helix) domain coded by exon 18. Several alternatively spliced TCF4 variants have been described, allowing for translation of variable protein isoforms. Typical PTHS patients have impairment of at least the bHLH domain...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28807762/diagnostic-exome-sequencing-identifies-a-heterozygous-mbd5-frameshift-mutation-in-a-family-with-intellectual-disability-and-epilepsy
#20
Ji Yoon Han, In Goo Lee, Woori Jang, Myungshin Kim, Yonggoo Kim, Ja Hyun Jang, Joonhong Park
Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene include severe intellectual disability, seizure, significant speech impairment, sleep disturbance, and autistic-like behavioural problems. Here we report a 7-year-old girl with intellectual disability and epilepsy without previous clinical diagnosis...
August 11, 2017: European Journal of Medical Genetics
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