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https://www.readbyqxmd.com/read/29793102/joint-attention-in-down-syndrome-a-meta-analysis
#1
REVIEW
Laura J Hahn, Susan J Loveall, Madison T Savoy, Allie M Neumann, Toshikazu Ikuta
BACKGROUND: Some studies have indicated that joint attention may be a relative strength in Down syndrome (DS), but other studies have not. AIM: To conduct a meta-analysis of joint attention in DS to more conclusively determine if this is a relative strength or weakness when compared to children with typical development (TD), developmental disabilities (DD), and autism spectrum disorder (ASD). METHODS AND PROCEDURES: Journal articles published before September 13, 2016, were identified by using the search terms "Down syndrome" and "joint attention" or "coordinating attention"...
May 21, 2018: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29793078/comparison-of-performance-based-assessment-and-real-world-skill-in-people-with-serious-mental-illness-ecological-validity-of-the-test-of-grocery-shopping-skills
#2
Laura A Faith, Melisa V Rempfer
Valid functional measures are essential for clinical and research efforts that address recovery and community functioning in people with serious mental illness. Although there is a great deal of interest in functional assessment, there is limited research supporting how well current evaluation methods provide a true assessment of real world functioning or naturalistic behavior. To address this gap in the literature, the present study examined the performance of individuals with serious mental illness (i.e., diagnosis of schizophrenia-spectrum, bipolar disorder, or other depression/anxiety diagnoses and accompanying functional disability) on the Test of Grocery Shopping Skills (TOGSS), a performance-based naturalistic task...
May 7, 2018: Psychiatry Research
https://www.readbyqxmd.com/read/29792748/portal-vein-thrombosis-imaging-the-spectrum-of-disease-with-an-emphasis-on-mri-features
#3
Reena C Jha, Satinderpal Singh Khera, Amit Dinesh Kalaria
OBJECTIVE: The purpose of this article is to review the classic and uncommon imaging findings of portal vein thrombosis (PVT) (acute, chronic, congenital, and septic thrombus) as visualized on multiple modalities, with an emphasis on MRI findings. Additional aims are to understand the imaging of obliterative portal venopathy and its clinical significance, appreciate morphologic changes of the biliary system that may accompany PVT, and recognize changes in liver enhancement patterns seen with PVT related to the hepatic arterial buffer response...
May 24, 2018: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/29792440/looking-at-the-eyes-interferes-with-facial-emotion-recognition-in-alexithymia
#4
Esther Fujiwara
Alexithymia refers to difficulties in identifying, differentiating, and describing feelings. This personality trait is highly prevalent in many psychiatric conditions and may drive associated social-emotional problems, including the ability to decode emotions in faces. This study probed alexithymic problems with identifying clear and ambiguous blends of emotions in faces and their underlying visual attention patterns. Using the Toronto Alexithymia Scale-20, students with high alexithymia (HA, n = 73) or low alexithymia (LA, n = 76) were enrolled in this study...
May 24, 2018: Journal of Abnormal Psychology
https://www.readbyqxmd.com/read/29792313/one-gene-many-endocrine-and-metabolic-syndromes-pten-opathies-and-precision-medicine
#5
Lamis Yehia, Charis Eng
An average of 10% of all cancers (range 1-40%) are caused by heritable mutations and over the years, have become powerful models for precision medicine practice. Furthermore, such cancer predisposition genes for seemingly rare syndromes have turned out to help explain mechanisms of sporadic carcinogenesis and often inform normal development. The tumor suppressor PTEN encodes a ubiquitously expressed phosphatase that counteracts the PI3K/AKT/mTOR cascade - one of the most critical growth-promoting signaling pathways...
May 23, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29792178/anti-ganglioside-complex-antibody-profiles-in-a-recurrent-complicated-case-of-gq1b-seronegative-miller-fisher-syndrome-and-bickerstaff-brainstem-encephalitis-a-case-report
#6
Hiroto Ito, Yuki Hatanaka, Yuki Fukami, Yumiko Harada, Rei Kobayashi, Hisashi Okada, Ayumi Uchibori, Atsuro Chiba, Satoshi Okuda
BACKGROUND: Guillain-Barré syndrome (GBS), Miller Fisher syndrome (MFS) and Bickerstaff brainstem encephalitis (BBE) are a group of autoimmune neurological disorders (GBS spectrum disorder) that rarely recur. Recently, anti-ganglioside complex antibodies (GSC-Abs) were identified in patients with GBS spectrum disorder. However, there has been no case report describing GSC-Abs profiles in a recurrent case showing different phenotypes. CASE PRESENTATION: We report the case of a 33-year-old male patient with GQ1b-seronegative BBE-GBS after two prior episodes of MFS-GBS...
May 23, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29792076/emotion-regulation-in-autism-reappraisal-and-suppression-interactions
#7
Ru Ying Cai, Amanda L Richdale, Cheryl Dissanayake, Julian Trollor, Mirko Uljarević
Emotion regulation has been proposed to be a transdiagnostic factor in the development and maintenance of psychopathology in the general population, yet the nature of the relationships between emotion regulation strategy use and psychological well-being has not been comprehensively explored in individuals with autism spectrum disorder (ASD). The aim of this study was to assess how the individual differences in self-reported emotion regulation strategy use relate to levels of both positive and negative psychological well-being...
May 1, 2018: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29791942/emerging-viral-infections-and-their-impact-on-the-global-burden-of-neurological-disease
#8
Laura S Muñoz, Maria A Garcia, Eliza Gordon-Lipkin, Beatriz Parra, Carlos A Pardo
Emerging viral infections of the nervous system represent a major global public health concern in the 21st century. They are caused primarily by RNA viruses and are mostly associated with acute or subacute encephalitis. The spectrum of associated central or peripheral nervous system disorders is broad, and results either from a direct viral effect or due to the host immune responses against the infection. Emerging viral infections impose substantial neurological morbidity and mortality, particularly in low- and middle-income regions...
April 2018: Seminars in Neurology
https://www.readbyqxmd.com/read/29791872/gene-expression-in-cord-blood-links-genetic-risk-for-neurodevelopmental-disorders-with-maternal-psychological-distress-and-adverse-childhood-outcomes
#9
Michael S Breen, Aliza P Wingo, Nastassja Koen, Kirsten A Donald, Mark Nicol, Heather J Zar, Kerry J Ressler, Joseph D Buxbaum, Dan J Stein
Prenatal exposure to maternal stress and depression has been identified as a risk factor for adverse behavioral and neurodevelopmental outcomes in early childhood. However, the molecular mechanisms through which maternal psychopathology shapes offspring development remain poorly understood. We applied transcriptome-wide screens to 149 umbilical cord blood samples from neonates born to mothers with posttraumatic stress disorder (PTSD; n=20), depression (n=31) and PTSD with comorbid depression (n=13), compared to carefully matched trauma exposed controls (n=23) and healthy mothers (n=62)...
May 20, 2018: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/29791467/scan-patterns-during-scene-viewing-predict-individual-differences-in-clinical-traits-in-a-normative-sample
#10
Taylor R Hayes, John M Henderson
The relationship between viewer individual differences and gaze control has been largely neglected in the scene perception literature. Recently we have shown a robust association between individual differences in viewer cognitive capacity and scan patterns during scene viewing. These findings suggest other viewer individual differences may also be associated with scene gaze control. Here we expand our findings to quantify the relationship between individual differences in clinical traits and scene viewing behavior in a normative sample...
2018: PloS One
https://www.readbyqxmd.com/read/29791179/-virilization-as-demonstration-of-hypertestosteronism-by-ovarian-tumor-case-report
#11
Michal Mokáň, František Nehaj, Juraj Sokol, Peter Vaňuga, Marián Mokáň
Hypertestosteronism as part of hyperandrogenic states in women is generally defined as abundance of male hormones (in this case abundance of testosterone). Spectrum of clinical symptoms include menstrual disorders, amenorrhoea, different range of hirsutism and virilization. Statistically, most androgen secreting tumors are ovarian aetiology (testosterone secreting tumors located in suprarenal gland are very rare). This rare tumor may produce excess amounts of testosterone, as well as its precursor androstenedione...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29791178/-rare-combination-of-turner-syndrome-and-congenital-adrenal-hyperplasia-with-21-hydroxylase-deficiency-case-report
#12
Ivana Ságová, Matej Stančík, Dušan Pavai, Daniela Kantárová, Anton Vaňuga, Peter Vaňuga
Combination of Turner syndrome (TS) and classic congenital adrenal hyperplasia (CAH) is rare. Globally, the incidence of CAH, autosomal recessive disorder caused by enzyme defect of steroidogenic pathway, is very low (1 : 10 000-16 000). 90 % of CAH cases are caused by 21-hydroxylase gene mutation (CYP21A2). Globally, the incidencie of Turner syndrome reaches 1 : 2 500. Phenotypically, females with TS may render wide spectrum of clinical features. Dominant symptoms are lowered terminal height and gonadal dysgenesia, ultimately leading to absence of puberty and infertility...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29790956/5-hydroxymethylcytosine-alterations-in-the-human-postmortem-brains-of-autism-spectrum-disorder
#13
Ying Cheng, Ziyi Li, Sasicha Manupipatpong, Li Lin, Xuekun Li, Tianlei Xu, Yong-Hui Jiang, Qiang Shu, Hao Wu, Peng Jin
Autism spectrum disorders (ASD) include a group of syndromes characterized by impaired language, social, and communication skills, in addition to restrictive behaviors or stereotypes. However, with a prevalence of 1.5% in developed countries and high comorbidity rates, no clear underlying mechanism that unifies the heterogeneous phenotypes of ASD exists. 5-hydroxymethylcytosine (5hmC) is highly enriched in the brain and recognized as an essential epigenetic mark in developmental and brain disorders. To explore the role of 5hmC in ASD, we used the genomic DNA isolated from the postmortem cerebellum of both ASD patients and age-matched controls to profile genome-wide distribution of 5hmC...
May 22, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29790814/a-de-novo-mutation-in-prickle1-associated-with-myoclonic-epilepsy-and-autism-spectrum-disorder
#14
Brittany P Todd, Alexander G Bassuk
Homozygous recessive mutations in the PRICKLE1 gene were first described in three consanguineous families with myoclonic epilepsy. Subsequent studies have identified neurological abnormalities in humans and animal models with both heterozygous and homozygous mutations in PRICKLE1 orthologs. We describe a 7-year-old with a novel de novo missense mutation in PRICKLE1 associated with epilepsy, autism spectrum disorder and global developmental delay.
May 23, 2018: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29790776/oral-health-challenges-facing-dubai-children-with-autism-spectrum-disorder-at-home-and-in-accessing-oral-health-care
#15
D Mansoor, M Al Halabi, A H Khamis, M Kowash
AIM: To investigate the challenges faced by Autism Spectrum Disorder (ASD) children and their families in Dubai from three different perspectives of dental care: oral care at home, oral care at the dentist and access to oral care, and to compare the results to their normally developing peers. MATERIALS AND METHODS: A case-control comparative study of 84 ASD and 53 healthy children attending special needs centres and schools in Dubai including siblings of the autistic children...
June 2018: European Journal of Paediatric Dentistry: Official Journal of European Academy of Paediatric Dentistry
https://www.readbyqxmd.com/read/29790634/parenting-stress-and-depressive-symptoms-in-taiwanese-mothers-of-young-children-with-autism-spectrum-disorder-association-with-children-s-behavioural-problems
#16
Yuh-Ming Hou, Lydia Stewart, Lai-Sang Iao, Chin-Chin Wu
BACKGROUND: This study examined the severity of parenting stress and depressive symptoms in Taiwanese mothers of young children with autism spectrum disorder (ASD) compared to mothers of young children with developmental delay (DD). The associations between parenting stress, depressive symptoms, and children's behavioural problems were also tested. METHODS: The study sample included 51 young children with ASD (mean age = 31 months), 51 young children with DD (mean age = 30 months) and their mothers...
May 23, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29790589/genotype-phenotype-correlation-of-hereditary-erythrocytosis-mutations-a-single-center-experience
#17
Jennifer L Oliveira, Lea M Coon, Lori A Frederick, Molly Hein, Kenneth C Swanson, Michelle E Savedra, Tavanna R Porter, Mrinal M Patnaik, Ayalew Tefferi, Animesh Pardanani, Stefan K Grebe, David S Viswanatha, James D Hoyer
Hereditary erythrocytosis is associated with high oxygen affinity hemoglobin variants (HOAs), 2,3-bisphosphoglycerate deficiency and abnormalities in EPOR and the oxygen-sensing pathway proteins PHD, HIF2α, and VHL. Our laboratory has 40 years of experience with hemoglobin disorder testing and we have characterized HOAs using varied protein and molecular techniques including functional assessment by p50 analysis. In addition, we have more recently commenced adding the assessment of clinically relevant regions of the VHL, BPGM, EPOR, EGLN1 (PHD2), and EPAS1 (HIF2A) genes in a more comprehensive hereditary erythrocytosis panel of tests...
May 23, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29790002/superior-visual-search-and-crowding-abilities-are-not-characteristic-of-all-individuals-on-the-autism-spectrum
#18
Ebony Lindor, Nicole Rinehart, Joanne Fielding
Individuals with Autism Spectrum Disorder (ASD) often excel on visual search and crowding tasks; however, inconsistent findings suggest that this 'islet of ability' may not be characteristic of the entire spectrum. We examined whether performance on these tasks changed as a function of motor proficiency in children with varying levels of ASD symptomology. Children with high ASD symptomology outperformed all others on complex visual search tasks, but only if their motor skills were rated at, or above, age expectations...
May 22, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29789951/sleep-in-children-with-congenital-malformations-of-the-central-nervous-system
#19
REVIEW
Jacqueline F Yates, Matthew M Troester, David G Ingram
PURPOSE OF REVIEW: Congenital malformations of the central nervous system may be seen in isolation or in association with syndromes that have multiorgan involvement. Among the potential health challenges these children may face, sleep concerns are frequent and may include chronic insomnia, sleep-related breathing disorders, and circadian rhythm disorders. RECENT FINDINGS: In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome...
May 23, 2018: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/29789706/short-segment-transverse-myelitis-lesions-in-a-cohort-of-latin-american-patients-with-neuromyelitis-optica-spectrum-disorders
#20
Edgar Carnero Contentti, Vanessa Daccach Marques, Ibis Soto de Castillo, Verónica Tkachuk, Amilton Antunes Barreira, Elizabeth Armas, Edson Chiganer, Camila de Aquino Cruz, José Luis Di Pace, Javier Pablo Hryb, Carolina Lavigne Moreira, Carmen Lessa, Omaira Molina, Mónica Perassolo, Arnoldo Soto, Alejandro Caride
STUDY DESIGN: Multicenter retrospective study. OBJECTIVES: The aim was to determine the frequency and magnetic resonance imaging (MRI) features of short-segment transverse myelitis (STM) in patients with neuromyelitis optica spectrum disorders (NMOSD) during a myelitis attack. SETTING: Latin American diagnostic centres (Neuroimmunology Unit). A multicenter study from Argentina, Brazil and Venezuela was performed. METHODS: Seventy-six patients with NMOSD were included...
May 22, 2018: Spinal Cord
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