keyword
MENU ▼
Read by QxMD icon Read
search

intellectual disorder

keyword
https://www.readbyqxmd.com/read/28230711/asperger-syndrome-and-early-onset-schizophrenia-associated-with-a-novel-mecp2-deleterious-missense-variant
#1
Aurore Curie, Gaëtan Lesca, Gérald Bussy, Sabine Manificat, Valérie Arnaud, Sibylle Gonzalez, Olivier Revol, Alain Calender, Daniel Gérard, Vincent des Portes
Methyl-CpG-binding protein 2 (MECP2) deleterious variants, which are responsible for Rett syndrome in girls, are involved in a wide spectrum of developmental disabilities in males. A neuropsychiatric phenotype without intellectual disability is uncommon in patients with MECP2 deleterious variants. We report on two dizygotic twins with an MECP2-related psychiatric disorder without intellectual disability. Neuropsychological and psychiatric phenotype assessments were performed, and a genetic analysis was carried out...
February 22, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28229453/chondrodysplasia-with-multiple-dislocations-comprehensive-study-of-a-series-of-30-cases
#2
E Ranza, C Huber, N Levin, G Baujat, C Bole-Feysot, P Nitschke, C Masson, Y Alanay, L Al-Gazali, P Bitoun, O Boute, P Campeau, C Coubes, M McEntagart, N Elcioglu, L Faivre, A Gezdirici, D Johnson, E Mihci, B G Nur, L Perrin, C Quelin, P Terhal, B Tuysuz, V Cormier-Daire
The group of chondrodysplasia with multiple dislocations includes several entities, characterized by short stature, dislocation of large joints, hand and/or vertebral anomalies. Other features, such as epiphyseal or metaphyseal changes, cleft palate, intellectual disability are also often part of the phenotype. In addition, several conditions with overlapping features are related to this group and broaden the spectrum. The majority of these disorders have been linked to pathogenic variants in genes encoding proteins implicated in the synthesis or sulfation of proteoglycans (PG)...
October 13, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/28228833/disruption-of-the-photoreceptor-inner-segment-outer-segment-junction-in-a-6-year-old-girl-with-joubert-syndrome
#3
Shimpei Baba, Eri Takeshita, Hiroko Yamazaki, Mikako Tarashima, Masayuki Sasaki
Joubert syndrome (JS) is a spectrum of genetic disorders characterised by cerebellar and brainstem malformation called "molar tooth sign", resulting in hypotonia, developmental delay, and intellectual disability. Here we describe a young female JS patient with "salt-and-pepper" fundus and inner segment-outer segment junction (IS/OS line) discontinuity, with a lack of external limiting membrane. Ocular coherence tomography (OCT) detected blurred external retinal layers in the macula centre. Although JS patients often have retinal degeneration with varying severity, few investigators have utilised OCT in their investigations...
February 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28228177/psychiatric-diagnoses-in-older-people-with-intellectual-disability-in-comparison-with-the-general-population-a-register-study
#4
A Axmon, P Björne, L Nylander, G Ahlström
AIMS: To describe the occurrence of psychiatric diagnoses in a specialist care setting in older people with intellectual disability (ID) in relation to those found in the same age group in the general population. METHOD: A cohort of people with ID (n = 7936), aged 55 years or more in 2012, was identified, as was an age and sex-matched cohort from the general population (n = 7936). Information regarding psychiatric diagnoses during 2002-2012 was collected from the National Patient Register, which contains records from all inpatient care episodes and outpatient specialist visits in Sweden...
February 23, 2017: Epidemiology and Psychiatric Sciences
https://www.readbyqxmd.com/read/28227679/wildcard-a-wearable-virtual-reality-storytelling-tool-for-children-with-intellectual-developmental-disability
#5
Mirko Gelsomini, Franca Garzotto, Daniele Montesano, Daniele Occhiuto, Mirko Gelsomini, Franca Garzotto, Daniele Montesano, Daniele Occhiuto, Daniele Montesano, Franca Garzotto, Mirko Gelsomini, Daniele Occhiuto
Our research aims at supporting existing therapies for children with intellectual and developmental disorders (IDD). The personal and social autonomy is the desired end state to be achieved to enable a smooth integration in the real world. We developed and tested a framework for storytelling and learning activities that exploits an immersive virtual reality viewer to interact with target users. We co-designed our system with experts from the medical sector, identifying features that allow patients to stay focused on exercises to perform...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226669/seizure-detection-using-dynamic-warping-for-patients-with-intellectual-disability
#6
Lei Wang, Johan B A M Arends, Xi Long, Yan Wu, Pierre J M Cluitmans, Lei Wang, Johan B A M Arends, Xi Long, Yan Wu, Pierre J M Cluitmans, Yan Wu, Johan B A M Arends, Lei Wang, Pierre J M Cluitmans, Xi Long
Electroencephalography (EEG) is paramount for both retrospective analysis and real-time monitoring of epileptic seizures. Studies have shown that EEG-based seizure detection is very difficult for a specific epileptic population with intellectual disability due to the cerebral development disorders. In this work, a seizure detection method based on dynamic warping (DW) is proposed for patients with intellectual disability. It uses an EEG template of an individual subject's dominant seizure type, to extract the morphological features from EEG signals...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226318/existential-orientation-on-the-phenomenology-of-values-attitudes-and-worldviews-in-schizophrenia-ancillary-article-to-eawe-domain-6
#7
Elizabeth Pienkos, Louis Sass
Since the appearance of schizophrenia as a distinct diagnosis, various researchers and clinicians, particularly those in the phenomenological and existential tradition, have noted the unique contribution of attitudinal and characterological factors to the illness. There has been a notable lack of attention paid to these features in most recent research on the disorder; still, understanding the values, attitudes, and worldviews - what might be termed the "existential orientation" - of persons with schizophrenia may be essential for comprehending the illness and developing effective approaches to treatment...
February 23, 2017: Psychopathology
https://www.readbyqxmd.com/read/28225946/the-intellectual-developmental-disorders-mexico-study-situational-diagnosis-burden-genomics-and-intervention-proposal
#8
Eduardo Lazcano-Ponce, Gregorio Katz, Rocío Rodríguez-Valentín, Filipa de Castro, Betania Allen-Leigh, María Elena Márquez-Caraveo, Miguel Ángel Ramírez-García, Eduardo Arroyo-García, María Elena Medina-Mora, Gustavo Ángeles, José Edmundo Urquieta-Salomón, Luis Salvador-Carulla
Objective: This study aims to generate evidence on intellectual development disorders (IDD) in Mexico. Materials and methods: IDD disease burden will be estimated with a probabilistic model, using population-based surveys. Direct and indirect costs of catastrophic expenses of families with a member with an IDD will be evaluated. Genomic characterization of IDD will include: sequencing participant exomes and performing bioinformatics analyses to identify de novo or inherited variants through trio analysis; identifying genetic variants associated with IDD, and validating randomly selected variants by polymerase chain reaction (PCR) and sequencing or real-time quantitative PCR (qPCR)...
November 2016: Salud Pública de México
https://www.readbyqxmd.com/read/28224041/a-7q31-33q32-1-microdeletion-including-lrrc4-and-grm8-is-associated-with-severe-intellectual-disability-and-characteristics-of-autism
#9
Noriko Sangu, Keiko Shimojima, Yuya Takahashi, Tsukasa Ohashi, Jun Tohyama, Toshiyuki Yamamoto
A 4-year-old boy with severe intellectual disability (ID) and characteristics of autism was found to have a de novo 1.9-Mb microdeletion in 7q31.33q32.1, in which LRRC4, GRM8, and 11 other genes were included. GRM8 is associated with attention deficit hyperactivity disorder. LRRC4 is related to synaptic cell adhesion molecules, some of which are associated with autism. The deletion of LRRC4 may be responsible for the severe ID and characteristics of autism observed in the present patient.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28223337/functional-expression-of-dopamine-d2-receptor-is-regulated-by-tetraspanin-7-mediated-postendocytic-trafficking
#10
Seol-Ae Lee, Yeongjun Suh, Saebom Lee, Jaehoon Jeong, Soo Jeong Kim, So Jung Kim, Sang Ki Park
The dopaminergic system plays an essential role in various functions of the brain, including locomotion, memory, and reward, and the deregulation of dopaminergic signaling as a result of altered functionality of dopamine D2 receptor (DRD2) is implicated in multiple neurologic and psychiatric disorders. Tetraspanin-7 (TSPAN7) is expressed to variable degrees in different tissues, with the highest level in the brain, and multiple mutations in TSPAN7 have been implicated in intellectual disability. Here, we tested the hypothesis that TSPAN7 may be a binding partner of DRD2 that is involved in the regulation of its functional activity...
February 21, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28220408/guanidinoacetate-methyltransferase-activity-in-lymphocytes-for-a-fast-diagnosis
#11
Lisette M Berends, Eduard A Struys, Birthe Roos, Ulbe Holwerda, Erwin E W Jansen, Gajja S Salomons, Mirjam M C Wamelink
INTRODUCTION: Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of metabolism (IEM), clinically characterized by intellectual disability, developmental delay, seizures, and movement disorders. Biochemical diagnosis of GAMT deficiency is based on the measurement of creatine and guanidinoacetate in urine, plasma, or CSF and is confirmed genetically by DNA analysis or by enzyme assay in lymphoblasts or fibroblasts. To obtain enough cells, these cells need to be cultured for at least 1 month...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28220357/are-generalized-anxiety-and-depression-symptoms-associated-with-social-competence-in-children-with-and-without-autism-spectrum-disorder
#12
Krista Haley Smith Johnston, Grace Iarocci
Generalized anxiety and depression symptoms may be associated with poorer social outcomes among children with Autism Spectrum Disorder (ASD) without intellectual disability. The goal of this study was to examine whether generalized anxiety and depression symptoms were associated with social competence after accounting for IQ, age, and gender in typically developing children and in children with ASD. Results indicated that for the TD group, generalized anxiety and depression accounted for 38% of the variance in social competence and for children with ASD, they accounted for 29% of the variance in social competence...
February 20, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28215110/patients-family-members-and-professional-carers-experiences-of-psychoeducational-multifamily-groups-for-participants-with-intellectual-disabilities-and-mental-illness
#13
Trine Lise Bakken, Inger-Lise Sundby, Gunn Helene Klevmoen
There is a dearth of articles addressing psychoeducational multifamily groups for adults with intellectual disabilities. The objective of this study is to investigate the participants' experiences of being part of a group like this. The group intervention had been slightly modified due to the participants' intellectual disabilities. Four patients, their close relatives, and community professional caregivers were interviewed using a semi-structured scheme. The four patients had participated in different groups...
February 2017: Issues in Mental Health Nursing
https://www.readbyqxmd.com/read/28214050/communication-deficits-and-avoidance-of-angry-faces-in-children-with-autism-spectrum-disorder
#14
Ana García-Blanco, Concepción López-Soler, Máximo Vento, María Carmen García-Blanco, Belén Gago, Manuel Perea
BACKGROUND: Understanding how emotional faces are processed is important to help characterize the social deficits in Autism Spectrum Disorder (ASD). AIMS: We examined: (i) whether attention is modulated by emotional facial expression; (ii) the time course of the attentional preferences (short vs. long stimulus presentation rates); and (iii) the association between attentional biases and autistic symptomatology. METHOD AND PROCEDURES: We applied a dot-probe experiment with emotional faces (happy, sad, and angry)...
February 14, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28213671/exome-analysis-of-smith-magenis-like-syndrome-cohort-identifies-de-novo-likely-pathogenic-variants
#15
Seth I Berger, Carla Ciccone, Karen L Simon, May Christine Malicdan, Thierry Vilboux, Charles Billington, Roxanne Fischer, Wendy J Introne, Andrea Gropman, Jan K Blancato, James C Mullikin, William A Gahl, Marjan Huizing, Ann C M Smith
Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or RAI1 variants. We identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1, and candidate de novo missense variants in an additional two cases...
February 17, 2017: Human Genetics
https://www.readbyqxmd.com/read/28211987/10-year-old-female-with-intragenic-kansl1-mutation-no-kansl1-related-intellectual-disability-and-preserved-verbal-intelligence
#16
Colleen Keen, Carole Samango-Sprouse, Holly Dubbs, Elaine H Zackai
Koolen-de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the KANSL1 gene. This genetic disorder is associated with a clinical phenotype including facial dysmorphism, developmental delay, and friendly disposition, as well as mild-to-moderate intellectual disability. We present the case of a 10 year 8 month old female with KdVS due to a de novo intragenic KANSL1 mutation. At this time, she does not present with intellectual disability, and her verbal intelligence is relatively preserved, although she has perceptual deficits, developmental dyspraxia, and severe speech disorder...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211972/tsc2-c-1864c-t-variant-associated-with-mild-cases-of-tuberous-sclerosis-complex
#17
Laura S Farach, William T Gibson, Steven P Sparagana, Mark Nellist, Connie T R M Stumpel, Marja Hietala, Elliott Friedman, Deborah A Pearson, Susan P Creighton, Annemiek Wagemans, Reveel Segel, Efrat Ben-Shalom, Kit Sing Au, Hope Northrup
Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disorder with variable expressivity associated with hamartomatous tumors, abnormalities of the skin, and neurologic problems including seizures, intellectual disability, and autism. TSC is caused by pathogenic variants in either TSC1 or TSC2. In general, TSC2 pathogenic variants are associated with a more severe phenotype than TSC1 pathogenic variants. Here, we report a pathogenic TSC2 variant, c.1864C>T, p.(Arg622Trp), associated with a mild phenotype, with most carriers meeting fewer than two major clinical diagnostic criteria for TSC...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211645/disability-and-inclusive-education-in-an-italian-region-analysis-of-the-data-for-the-school-year-2012-2013
#18
Evamaria Lanzarini, Antonia Parmeggiani
BACKGROUND: In Italy, pupils with disabilities enroll in mainstream schools and attend the ordinary classes at all educational levels. For the past twelve years, the Region Emilia Romagna has witnessed an increase in the number of children who are in need of special support. The aim of the study was to identify the causes of disability in children attending public schools during the school year 2012-2013. METHODS: The study was designed as a cross-sectional survey...
February 17, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28211606/nrf2-a-novel-therapeutic-target-in-fragile-x-syndrome-is-modulated-by-nnz2566
#19
Robert M J Deacon, Michael J Hurley, Camila Martínez Rebolledo, Mike Snape, Francisco J Altimiras, Leandro Farías, Michael Pino, Rodolfo Biekofsky, Larry Glass, Patricia Cogram
Fragile X-associated disorders are a family of genetic conditions resulting from the partial or complete loss of fragile X mental retardation protein (FMRP). Among these disorders is fragile X syndrome (FXS), the most common cause of inherited intellectual disability and autism. Progress in basic neuroscience has led to identification of molecular targets for treatment in FXS; however, there is a gap in translation to targeted therapies in humans. The present study introduces a novel therapeutic target for FXS: nuclear factor (erythroid-derived 2)-like 2 (Nrf2), a transcription factor known to induce expression of over 100 cytoprotective genes...
February 17, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28205048/mild-orotic-aciduria-in-umps-heterozygotes-a-metabolic-finding-without-clinical-consequences
#20
Saskia B Wortmann, Margaret A Chen, Roberto Colombo, Alessandro Pontoglio, Bader Alhaddad, Lorenzo D Botto, Tatiana Yuzyuk, Curtis R Coughlin, Maria Descartes, Stephanie Grűnewald, Bruno Maranda, Philippa B Mills, James Pitt, Catherine Potente, Richard Rodenburg, Leo A J Kluijtmans, Srirangan Sampath, Emil F Pai, Ron A Wevers, George E Tiller
BACKGROUND: Elevated urinary excretion of orotic acid is associated with treatable disorders of the urea cycle and pyrimidine metabolism. Establishing the correct and timely diagnosis in a patient with orotic aciduria is key to effective treatment. Uridine monophosphate synthase is involved in de novo pyrimidine synthesis. Uridine monophosphate synthase deficiency (or hereditary orotic aciduria), due to biallelic mutations in UMPS, is a rare condition presenting with megaloblastic anemia in the first months of life...
February 15, 2017: Journal of Inherited Metabolic Disease
keyword
keyword
22975
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"