keyword
MENU ▼
Read by QxMD icon Read
search

intellectual disorder

keyword
https://www.readbyqxmd.com/read/28929296/foster-care-involvement-among-medicaid-enrolled-children-with-autism
#1
Zuleyha Cidav, Ming Xie, David S Mandell
The prevalence and risk of foster care involvement among children with autism spectrum disorder (ASD) relative to children with intellectual disability (ID), children with ASD and ID, and typically developing children were examined using 2001-2007 Medicaid data. Children were followed up to the first foster care placement or until the end of 2007; a discrete time logistic regression analysis was conducted. Both the prevalence and risk of foster care involvement were greatest for children with ASD, and the prevalence increased substantially over the study period among children with ASD...
September 19, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28929285/genomic-disorders-in-psychiatry-what-does-the-clinician-need-to-know
#2
REVIEW
Chelsea Lowther, Gregory Costain, Danielle A Baribeau, Anne S Bassett
PURPOSE OF REVIEW: The purpose of this review is to summarize the role of genomic disorders in various psychiatric conditions and to highlight important recent advances in the field that are of potential clinical relevance. RECENT FINDINGS: Genomic disorders are caused by large rare recurrent deletions and duplications at certain chromosomal "hotspots" (e.g., 22q11.2, 16p11.2, 15q11-q13, 1q21.1, 15q13.3) across the genome. Most overlap multiple genes, affect development, and are associated with variable cognitive and other neuropsychiatric expression...
September 20, 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28926346/coprophagic-asphyxiation-in-an-intellectually-disabled-woman
#3
Stephanie LeeAnne Erickson, Aaron David Gambrell, James Fulcher, Michael Ward
The ingestion of one's own feces is referred to as coprophagia. In this report, the author discusses a case of coprophagia-associated death in a 36-year-old woman. The woman had a history of intellectual disability, bipolar disorder, and schizoaffective disorder and was living in a group home. At autopsy, examination of the upper airway revealed 4 distinct spherical boli of impacted fecal matter in the oral cavity and pharynx. Death was attributed to asphyxia due to aspiration of stool bolus during an episode of coprophagia...
September 19, 2017: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/28923014/scn8a-mutations-in-chinese-patients-with-early-onset-epileptic-encephalopathy-and-benign-infantile-seizures
#4
Jiaping Wang, Hua Gao, Xinhua Bao, Qingping Zhang, Jiarui Li, Liping Wei, Xiru Wu, Yan Chen, Shujie Yu
BACKGROUND: SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations. METHODS: To identify the pathogenic gene of a Chinese family, in which six members suffered from epilepsy, whole-exome sequencing was performed. In addition, target next-generation sequencing (NGS) was performed on 178 sporadic patients, who had epilepsy of unknown etiology within 6 months after birth...
September 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28922953/high-technology-augmentative-and-alternative-communication-for-individuals-with-intellectual-and-developmental-disabilities-and-complex-communication-needs-a-meta-analysis
#5
Jennifer B Ganz, Kristi L Morin, Margaret J Foster, Kimberly J Vannest, Derya Genç Tosun, Emily V Gregori, Stephanie L Gerow
The use of mobile technology is ubiquitous in modern society and is rapidly increasing in novel use. The use of mobile devices and software applications ("apps") as augmentative and alternative communication (AAC) is rapidly expanding in the community, and this is also reflected in the research literature. This article reports the social-communication outcome results of a meta-analysis of single-case experimental research on the use of high-tech AAC, including mobile devices, by individuals with intellectual and developmental disabilities, including autism spectrum disorder...
September 19, 2017: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/28922055/nance-horan-syndrome-in-females-due-to-a-balanced-x-1-translocation-that-disrupts-the-nhs-gene-familial-case-report-and-review-of-the-literature
#6
Laura Gómez-Laguna, Alejandro Martínez-Herrera, Alejandra Del Pilar Reyes-de la Rosa, Constanza García-Delgado, Karem Nieto-Martínez, Fernando Fernández-Ramírez, Tania Yanet Valderrama-Atayupanqui, Ariadna Berenice Morales-Jiménez, Judith Villa-Morales, Susana Kofman, Alicia Cervantes, Verónica Fabiola Morán-Barroso
The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally present less severe features, and up to 30% of the affected males have intellectual disability. We describe two patients, mother and daughter, manifesting Nance-Horan syndrome. The cytogenetic and molecular analyses demonstrated a 46,X,t(X;1)(p22.13;q22) karyotype in each of them...
September 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28921563/advanced-genomic-testing-may-aid-in-counseling-of-isolated-agenesis-of-the-corpus-callosum-on-prenatal-ultrasound
#7
M C de Wit, F Boekhorst, G M Mancini, L S Smit, I A L Groenenberg, J Dudink, F A T de Vries, A T J I Go, R J H Galjaard
OBJECTIVE: Isolated agenesis of the corpus callosum (ACC) on fetal ultrasound has a varied prognosis. Microarray and exome sequencing might aid in prenatal counseling. METHOD: This study includes 25 fetuses with apparently isolated complete ACC (cACC) on ultrasound. All cases were offered SNP array. Complementary exome sequencing (ES) was offered postnatally in selected cases. Clinical physical and neurodevelopmental follow-up was collected. RESULTS: Eighteen cases opted for SNP array testing, which detected a causal anomaly in 2/18(11...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28921543/language-growth-in-children-with-heterogeneous-language-disorders-a-population-study
#8
Courtenay Frazier Norbury, George Vamvakas, Debbie Gooch, Gillian Baird, Tony Charman, Emily Simonoff, Andrew Pickles
BACKGROUND: Language development has been characterised by significant individual stability from school entry. However, the extent to which trajectories of language growth vary in children with language disorder as a function of co-occurring developmental challenges is a question of theoretical import, with implications for service provision. METHODS: SCALES employed a population-based survey design with sample weighting procedures to estimate growth in core language skills over the first three years of school...
October 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28920961/germline-mutations-affecting-the-histone-h4-core-cause-a-developmental-syndrome-by-altering-dna-damage-response-and-cell-cycle-control
#9
Federico Tessadori, Jacques C Giltay, Jane A Hurst, Maarten P Massink, Karen Duran, Harmjan R Vos, Robert M van Es, Richard H Scott, Koen L I van Gassen, Jeroen Bakkers, Gijs van Haaften
Covalent modifications of histones have an established role as chromatin effectors, as they control processes such as DNA replication and transcription, and repair or regulate nucleosomal structure. Loss of modifications on histone N tails, whether due to mutations in genes belonging to histone-modifying complexes or mutations directly affecting the histone tails, causes developmental disorders or has a role in tumorigenesis. More recently, modifications affecting the globular histone core have been uncovered as being crucial for DNA repair, pluripotency and oncogenesis...
September 18, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28918504/autism-spectrum-disorders-and-disease-modeling-using-stem-cells
#10
REVIEW
Anita Brito, Fabiele Baldino Russo, Alysson Renato Muotri, Patricia Cristina Baleeiro Beltrão-Braga
Autism spectrum disorders (ASD) represent a variety of disorders characterized as complex lifelong neurodevelopment disabilities, which may affect the ability of communication and socialization, including typical comportments like repetitive and stereotyped behavior. Other comorbidities are usually present, such as echolalia, hypotonia, intellectual disability and difficulties in processing figured speech. Furthermore, some ASD individuals may present certain abilities, such as eidetic memory, outstanding musical or painting talents and special mathematical skills, among others...
September 16, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28918307/an-application-of-bandura-s-four-sources-of-self-efficacy-to-the-self-management-of-type-2-diabetes-in-people-with-intellectual-disability-an-inductive-and-deductive-thematic-analysis
#11
Andrew Maine, Adele Dickson, Maria Truesdale, Michael Brown
BACKGROUND: Little is known about the successful experiences and positive perceptions of people with intellectual disabilities (ID) self-managing Type 2 Diabetes (T2D). This study sought to address this gap using Bandura's (1977) 'Four Sources of Self-Efficacy' as a framework of enquiry. METHOD: Semi-structured interviews were conducted with 10 adults with ID. Interviews were recorded, transcribed verbatim and analysed using inductive and deductive thematic analysis RESULTS: Nine sub-themes were identified following analysis of the data: 1) Mastery through knowledge; 2) Mastery through tools and strategies; 3) Mastery through autonomy; 4) Influence of social setting; 5) Positive social comparisons; 6) Positive and negative self-statements; 7) Feedback from caregivers; 8) Adjustment experiences; 9) Symptom awareness...
September 14, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28917202/mechanisms-of-maguk-mediated-cellular-junctional-complex-organization
#12
REVIEW
Fei Ye, Menglong Zeng, Mingjie Zhang
Membrane-associated guanylate kinases (MAGUKs) are a family of scaffold proteins that are enriched in cellular junctions and essential for tissue development and homeostasis. Mutations of MAGUKs are linked to many human diseases including cancers, psychiatric disorders, and intellectual disabilities. MAGUKs share a common PDZ-SH3-GK tandem domain organization at the C-terminal end. In this review, we summarize the mechanistic basis governing target recognition and regulations of this binding by the PDZ-SH3-GK tandem of various MAGUKs...
September 13, 2017: Current Opinion in Structural Biology
https://www.readbyqxmd.com/read/28914729/mental-health-service-use-among-youth-with-autism-spectrum-disorder
#13
Stephanie Ryan, Jonathan Lai, Jonathan A Weiss
OBJECTIVE: Although youth with autism have elevated rates of mental health problems compared to typically developing youth, little is known about the mental health services that they receive. The current study examines predisposing, enabling, and clinical need factors as they relate to mental health service use in youth with autism. METHODS: The current study surveyed parents of 2337 children and adolescents with autism, compared their access to behavioral management and mental health treatment (MHT), and isolated the correlates of such receipt...
September 7, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28910830/consensus-guidelines-for-therapeutic-drug-monitoring-in-neuropsychopharmacology-update-2017
#14
C Hiemke, N Bergemann, H W Clement, A Conca, J Deckert, K Domschke, G Eckermann, K Egberts, M Gerlach, C Greiner, G Gründer, E Haen, U Havemann-Reinecke, G Hefner, R Helmer, G Janssen, E Jaquenoud, G Laux, T Messer, R Mössner, M J Müller, M Paulzen, B Pfuhlmann, P Riederer, A Saria, B Schoppek, G Schoretsanitis, M Schwarz, M Silva Gracia, B Stegmann, W Steimer, J C Stingl, M Uhr, S Ulrich, S Unterecker, R Waschgler, G Zernig, G Zurek, P Baumann
Therapeutic drug monitoring (TDM) is the quantification and interpretation of drug concentrations in blood to optimize pharmacotherapy. It considers the interindividual variability of pharmacokinetics and thus enables personalized pharmacotherapy. In psychiatry and neurology, patient populations that may particularly benefit from TDM are children and adolescents, pregnant women, elderly patients, individuals with intellectual disabilities, patients with substance abuse disorders, forensic psychiatric patients or patients with known or suspected pharmacokinetic abnormalities...
September 14, 2017: Pharmacopsychiatry
https://www.readbyqxmd.com/read/28906246/the-relationship-between-central-auditory-processing-language-and-cognition-in-children-being-evaluated-for-central-auditory-processing-disorder
#15
Lauren Brenneman, Elizabeth Cash, Gail D Chermak, Linda Guenette, Gay Masters, Frank E Musiek, Mallory Brown, Julianne Ceruti, Krista Fitzegerald, Kristin Geissler, Jennifer Gonzalez, Jeffrey Weihing
BACKGROUND: Pediatric central auditory processing disorder (CAPD) is frequently comorbid with other childhood disorders. However, few studies have examined the relationship between commonly used CAPD, language, and cognition tests within the same sample. PURPOSE: The present study examined the relationship between diagnostic CAPD tests and "gold standard" measures of language and cognitive ability, the Clinical Evaluation of Language Fundamentals (CELF) and the Wechsler Intelligence Scale for Children (WISC)...
September 2017: Journal of the American Academy of Audiology
https://www.readbyqxmd.com/read/28903905/the-pathogenicity-of-genomic-genetic-variant-of-x-chromosomal-genes-in-males-with-intellectual-disability
#16
Ji-Ping Peng, Fang Liu, Hua Xie, Xiao-Li Chen
Intellectual Disability (ID, previously named mental retardation) is a group of common pediatric neurology disorders characterized by extensive genetic and phenotypic heterogeneity. About 25%-50% of ID was caused by genomic/genetic variants, in which genomic/genetic variants of X-chromosome are one of key pathogenic causation (25%-30%), resulting in X-linked ID (XLID). The epidemiological data showed that the male to female ratio is 1.3: 1 in ID patients. The prevalence of XLID in the whole ID population is 10%-15%, and this prevalence reaches 20%-25% in the male ID population...
June 20, 2017: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/28901431/isolated-chromosome-8p23-2%C3%A2-pter-deletion-novel-evidence-for-developmental-delay-intellectual-disability-microcephaly-and-neurobehavioral-disorders
#17
Shanshan Shi, Shaobin Lin, Baojiang Chen, Yi Zhou
The current study presents a patient carrying a de novo ~6 Mb deletion of the isolated chromosome 8p23.2‑pter that was identified with a single‑nucleotide polymorphism array. The patient was characterized by developmental delay (DD)/intellectual disability (ID), microcephaly, autism spectrum disorder, attention‑deficit/hyperactivity disorders and mildly dysmorphic features. The location, size and gene content of the deletion observed in this patient were compared with those in 7 patients with isolated 8p23...
September 7, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28900300/rogdi-defines-gabaergic-control-of-a-wake-promoting-dopaminergic-pathway-to-sustain-sleep-in-drosophila
#18
Minjong Kim, Donghoon Jang, Eunseok Yoo, Yangkyun Oh, Jun Young Sonn, Jongbin Lee, Yoonhee Ki, Hyo Jin Son, Onyou Hwang, Changwook Lee, Chunghun Lim, Joonho Choe
Kohlschutter-Tönz syndrome (KTS) is a rare genetic disorder with neurological dysfunctions including seizure and intellectual impairment. Mutations at the Rogdi locus have been linked to development of KTS, yet the underlying mechanisms remain elusive. Here we demonstrate that a Drosophila homolog of Rogdi acts as a novel sleep-promoting factor by supporting a specific subset of gamma-aminobutyric acid (GABA) transmission. Rogdi mutant flies displayed insomnia-like behaviors accompanied by sleep fragmentation and delay in sleep initiation...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28898924/prevalence-of-autism-spectrum-disorders-with-and-without-intellectual-disability-by-gestational-age-at-birth-in-the-stockholm-youth-cohort-a-register-linkage-study
#19
Sherlly Xie, Hein Heuvelman, Cecilia Magnusson, Dheeraj Rai, Kristen Lyall, Craig J Newschaffer, Christina Dalman, Brian K Lee, Kathryn Abel
BACKGROUND: Preterm birth has been linked to increased risk of autism spectrum disorders (ASD), but how this risk changes with gestational age at birth has not been well characterised, especially with regard to co-occurring intellectual disability (ID). METHODS: Register-based cohort study of singleton births in 1984-2007 in Stockholm County, Sweden (N total: 480 728; n ASD: 10 025). We assessed overall and sex-specific, gestational week-specific prevalence estimates and risk ratios of ASD with and without ID...
September 12, 2017: Paediatric and Perinatal Epidemiology
https://www.readbyqxmd.com/read/28898540/compound-heterozygous-trpv4-mutations-in-two-siblings-with-a-complex-phenotype-including-severe-intellectual-disability-and-neuropathy
#20
My Linh Thibodeau, Colin H Peters, Katelin N Townsend, Yaoqing Shen, Glenda Hendson, Shelin Adam, Kathryn Selby, Patrick M Macleod, Cynthia Gershome, Peter Ruben, Steven J M Jones, Jan M Friedman, William T Gibson, Gabriella A Horvath
TRPV4 encodes a polymodal calcium-permeable plasma membrane channel. Dominant pathogenic mutations in TRPV4 lead to a wide spectrum of abnormal phenotypes. This is the first report of biallelic TRPV4 mutations and we describe two compound heterozygous siblings presenting with a complex phenotype including severe neuromuscular involvement. In light of previously well described dominant inheritance for TRPV4-related neuromuscular disease, our study suggests a role for compound heterozygosity and loss-of-function as a potential novel disease mechanism for this group of disorders...
September 12, 2017: American Journal of Medical Genetics. Part A
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"