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https://www.readbyqxmd.com/read/28533195/de-novo-8p23-1-deletion-in-a-patient-with-absence-epilepsy
#1
Nihan Hande Akcakaya, Özlem Yalcin Capan, Herbert Schulz, Thomas Sander, Server Hande Caglayan, Zuhal Yapıcı
The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, and sometimes epilepsy. Genomic copy number variations (CNVs) constitute an important genetic risk factor for common genetic generalised epilepsy syndromes (GGEs) and absence seizures. These variations, resulting either from copy loss (microdeletion) or copy gain (duplications), disrupt genes associated with neuronal development...
May 22, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28532510/gender-differences-in-psychiatric-diagnoses-in-older-people-with-intellectual-disability-a-register-study
#2
Anna Axmon, Magnus Sandberg, Gerd Ahlström
BACKGROUND: Gender differences regarding psychiatric ill-health are well known in the general population. However, not much research is done on people with intellectual disability, and especially not among older people with intellectual disability. METHODS: People with intellectual disability aged 55+ years in 2012 in Sweden were identified through a register containing information on those receiving support and service for this type of disability. The cohort comprised 3609 women and 4327 men with mean age 65 and 64 years, respectively...
May 22, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#3
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28526761/a-retrospective-chart-review-of-the-features-of-pten-hamartoma-tumour-syndrome-in-children
#4
Emily Hansen-Kiss, Sarah Beinkampen, Brent Adler, Thomas Frazier, Thomas Prior, Steven Erdman, Charis Eng, Gail Herman
OBJECTIVE: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the PTEN tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic PTEN mutation are unclear and have not been well documented. STUDY OBJECTIVES: We undertook a retrospective chart review of children (< 18  years) with pathogenic PTEN mutations to ascertain clinical findings, clinical course and possible outcomes...
May 19, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28524815/anchoring-high-concentrations-of-syngap-at-postsynaptic-densities-via-liquid-liquid-phase-separation
#5
Menglong Zeng, Guanhua Bai, Mingjie Zhang
SynGAP, encoded by SYNGAP1, is a Ras/Rap GTPase activator specifically expressed in the nervous systems. SynGAP is one of the most abundant proteins in the postsynaptic densities (PSDs) of excitatory synapses and acts as a critical synaptic activity brake by tuning down synaptic GTPase activities. Mutations of SYNGAP1 have been frequently linked to brain disorders including intellectual disability, autisms, and seizure. SynGAP has been shown to undergo fast dispersions from synapses in response to stimulations, a strategy that neurons use to control the specific activities of the enzyme within the tiny, semi-open compartments in dendritic spines...
May 19, 2017: Small GTPases
https://www.readbyqxmd.com/read/28523562/bioinformatics-tools-for-genome-wide-epigenetic-research
#6
Vladimir Espinosa Angarica, Antonio Del Sol
Epigenetics play a central role in the regulation of many important cellular processes, and dysregulations at the epigenetic level could be the source of serious pathologies, such as neurological disorders affecting brain development, neurodegeneration, and intellectual disability. Despite significant technological advances for epigenetic profiling, there is still a need for a systematic understanding of how epigenetics shapes cellular circuitry, and disease pathogenesis. The development of accurate computational approaches for analyzing complex epigenetic profiles is essential for disentangling the mechanisms underlying cellular development, and the intricate interaction networks determining and sensing chromatin modifications and DNA methylation to control gene expression...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28523196/neoplasia-in-cri-du-chat-syndrome-from-italian-and-german-databases
#7
Andrea Guala, Marianna Spunton, Silvia Kalantari, Ingo Kennerknecht, Cesare Danesino
Cri du Chat syndrome (CdC) is a chromosomal abnormality (deletion of short arm of chromosome 5) associated with intellectual disability and typical anatomical abnormalities. Research up to now focuses on the management of the disease during childhood. The longer lifespan of these patients warrants deeper investigations of how and if aging could be affected by the syndrome. We decided to focus on the association of the disease with proliferative disorders. Data on proliferative disorders in a cohort of 321 patients from Italian and German Cri du Chat databases were collected...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28515031/phenotypic-variability-in-a-family-with-acrodysostosis-type-2-caused-by-a-novel-pde4d-mutation-affecting-the-serine-target-of-pka-phosphorylation
#8
Julia Hoppmann, Julia Gesing, Caroline Silve, Chrystel Leroy, Astrid Bertsche, Franz Wolfgang Hirsch, Wieland Kiess, Roland Pfäffle, Volker Schuster
BACKGROUND: Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in PRKAR1A and acrodysostosis type 2 caused by mutations in PDE4D. Most cases are sporadic. OBJECTIVE: We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28508319/trpc-channels-and-mental-disorders
#9
Karina Griesi-Oliveira, Angela May Suzuki, Alysson Renato Muotri
Transient receptor potential canonical (TRPC) channels mediate the influx of different types of cations through the cell membrane and are involved in many functions of the organism. Evidences of involvement of TRPC channels in neuronal development suggest that this family of proteins might play a role in certain neurological disorders. As reported, knockout mice for different TRPC channels show alterations in neuronal morphological and functional parameters, with behavioral abnormalities, such as in exploratory and social behaviors...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28506748/copy-number-variation-analysis-of-patients-with-intellectual-disability-from-north-west-spain
#10
Inés Quintela, Jesús Eirís, Carmen Gómez-Lado, Laura Pérez-Gay, David Dacruz, Raquel Cruz, Manuel Castro-Gago, Luz Míguez, Ángel Carracedo, Francisco Barros
Intellectual disability (ID) is a complex and phenotypically heterogeneous neurodevelopmental disorder characterized by significant deficits in cognitive and adaptive skills, debuting during the developmental period. In the last decade, microarray-based copy number variation (CNV) analysis has been proved as a strategy particularly useful in the discovery of loci and candidate genes associated with these phenotypes and is widely used in the clinics with a diagnostic purpose. In this study, we evaluated the usefulness of two genome-wide high density SNP microarrays -Cytogenetics Whole-Genome 2...
May 12, 2017: Gene
https://www.readbyqxmd.com/read/28506340/-endocrine-and-metabolic-features-of-female-children-with-prader-willi-syndrome-an-analysis-of-4-cases
#11
Mo-Ling Wu, Juan Li, Yu Ding, Yao Chen, Guo-Ying Chang, Xiu-Min Wang, Jian Wang, Yi-Ping Shen
This article reports the clinical features and endocrine and metabolic features of 4 children with Prader-Willi syndrome (PWS). All the patients were female and aged 6-12 years at diagnosis. All of them had clinical manifestations of obesity, unusual facies, developmental retardation, and intellectual disability. Genetic detection showed that 2 patients had paternal deletion of the 15q11.2-q13 region, one patient had maternal autodiploid in the 15q11.2-q13 region, and one patient had no abnormality in the 15q11...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28503735/wdr45b-related-intellectual-disability-spastic-quadriplegia-epilepsy-and-cerebral-hypoplasia-a-consistent-neurodevelopmental-syndrome
#12
Jehan Suleiman, Diane Allingham-Hawkins, Mais Hashem, Hanan Shamseddin, Fowzan S Alkuraya, Ayman W El-Hattab
The advancement in genomic sequencing has greatly improved the diagnostic yield for neurodevelopmental disorders and led to the discovery of large number of novel genes associated with these disorders. WDR45B has been identified as a potential intellectual disability gene through genomic sequencing of two large cohorts of affected individuals. In this report we present six individuals from three unrelated families with homozygous pathogenic variants in WDR45B: c.799C>T (p.Q267*) in one family and c.673C>T (p...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28503625/maternal-race-ethnicity-immigrant-status-country-of-birth-and-the-odds-of-a-child-with-autism
#13
Jenny Fairthorne, Nick de Klerk, Helen M Leonard, Laura A Schieve, Marshalyn Yeargin-Allsopp
The risk of autism spectrum disorder varies by maternal race-ethnicity, immigration status, and birth region. In this retrospective cohort study, Western Australian state registries and a study population of 134 204 mothers enabled us to examine the odds of autism spectrum disorder with intellectual disability in children born from 1994 to 2005 by the aforementioned characteristics. We adjusted for maternal age, parity, socioeconomic status, and birth year. Indigenous women were 50% less likely to have a child with autism spectrum disorder with intellectual disability than Caucasian, nonimmigrant women...
January 2017: Child Neurol Open
https://www.readbyqxmd.com/read/28503387/rubinstein-taybi-syndrome-associated-with-pituitary-macroadenoma-a-case-report
#14
Yasamin Olyaei, J Manuel Sarmiento, Serguei I Bannykh, Doniel Drazin, Robert T Naruse, Wesley King
Rubinstein-Taybi Syndrome (RSTS) is an autosomal dominant disorder that is classically characterized by prenatal and postnatal growth restriction, microcephaly, dysmorphic craniofacial features, broad thumbs and toes, and intellectual disability. We describe the first reported case of a pituitary macroadenoma associated with RSTS. A 39-year-old Caucasian female with a past medical history of RSTS diagnosed at age two was found to have a gadolinium-enhancing pituitary mass on magnetic resonance imaging (MRI) of the brain three years ago during workup for migraine-like headaches...
April 11, 2017: Curēus
https://www.readbyqxmd.com/read/28502222/understanding-pain-physiology-and-its-application-to-person-with-intellectual-disability
#15
Owen Doody, Maria E Bailey
The issue of pain warrants attention as, by virtue of having an intellectual disability, a person may have associated medical or physical conditions and associated factors increasing their risk of pain disorders. People with intellectual disability experiencing pain need to be provided with the best possible care. The focus of this article is on the exploration of pain: physiology and types; manifestations and responses in the context of intellectual disability in order to promote effective, knowledgeable assessment and management of pain for this client group...
January 1, 2017: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/28500650/aberrant-cognitive-phenotypes-and-altered-hippocampal-bdnf-expression-related-to-epigenetic-modifications-in-mice-lacking-the-post-synaptic-scaffolding-protein-shank1-implications-for-autism-spectrum-disorder
#16
A Özge Sungur, Magdalena C E Jochner, Hani Harb, Ayşe Kılıç, Holger Garn, Rainer K W Schwarting, Markus Wöhr
Autism spectrum disorder (ASD) is a class of neurodevelopmental disorders characterized by persistent deficits in social communication/interaction, together with restricted/repetitive patterns of behavior. ASD is among the most heritable neuropsychiatric conditions, and while available evidence points to a complex set of genetic factors, the SHANK gene family has emerged as one of the most promising candidates. Here, we assessed ASD-related phenotypes with particular emphasis on social behavior and cognition in Shank1 mouse mutants in comparison to heterozygous and wildtype littermate controls across development in both sexes...
May 12, 2017: Hippocampus
https://www.readbyqxmd.com/read/28499440/a-feasibility-randomised-controlled-trial-of-extended-brief-intervention-for-alcohol-misuse-in-adults-with-mild-to-moderate-intellectual-disabilities-living-in-the-community-the-ebi-ld-study
#17
Christos Kouimtsidis, Alessandro Bosco, Katrina Scior, Gianluca Baio, Rachael Hunter, Vittoria Pezzoni, Eileen Mcnamara, Angela Hassiotis
BACKGROUND: Extended brief interventions (EBIs) are effective in targeting alcohol misuse in the general population. However, little is known of the effects of EBI in adults with intellectual (also known as learning) disabilities. In this feasibility trial we compared EBI with usual care for alcohol misuse in adults with mild to moderate Intellectual Disability (ID). METHODS: The study took place in three community ID networks of services in England. Participants aged 18-65 years with reported alcohol problems, a score ≥8 on the Alcohol Use Disorder Identification Test (AUDIT), and IQ <70 (+/5%CI) were recruited and were randomly allocated to either EBI (five weekly sessions and one follow-up at 8 weeks) and usual care or usual care alone...
May 12, 2017: Trials
https://www.readbyqxmd.com/read/28498556/adaptive-and-maladaptive-functioning-in-kleefstra-syndrome-compared-to-other-rare-genetic-disorders-with-intellectual-disabilities
#18
Karlijn Vermeulen, Anneke de Boer, Joost G E Janzing, David A Koolen, Charlotte W Ockeloen, Marjolein H Willemsen, Floor M Verhoef, Patricia A M van Deurzen, Linde van Dongen, Hans van Bokhoven, Jos I M Egger, Wouter G Staal, Tjitske Kleefstra
Detailed neurobehavioural profiles are of major value for specific clinical management, but have remained underexposed in the population with intellectual disabilities (ID). This was traditionally classified based on IQ level only. Rapid advances in genetics enable etiology based stratification in the majority of patients, which reduces clinical heterogeneity. This paper illustrates that specific profiles can be obtained for rare syndromes with ID. Our main aim was to study (mal)adaptive functioning in Kleefstra Syndrome (KS) by comparing and contrasting our findings to three other subgroups: Koolen-de Vries Syndrome, GATAD2B-related syndrome, and a mixed control group of individuals with ID...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28496999/the-clinical-manifestations-and-genetic-implications-of-baraitser-winter-syndrome-type-2
#19
Tanya C Allawh, Barry Scott Brown
An 18-year-old Caucasian male was born by cesarean section weighing 2.6 kg (5 lb 14 oz) at birth after an uncomplicated pregnancy with no perinatal complications. Around 4 to 5 months of age, the patient's mother initially became concerned as he was experiencing signs of developmental delay and a mild floppy tone, in addition to facial features that resembled some form of mental retardation. The patient's older brother also experienced similar developmental symptoms and facial features that presented around the same age period as our patient...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28496994/novel-causative-variants-in-dyrk1a-kars-and-kat6a-associated-with-intellectual-disability-and-additional-phenotypic-features
#20
Clark R Murray, Samantha N Abel, Matthew B McClure, Joseph Foster, Maria I Walke, Parul Jayakar, Guney Bademci, Mustafa Tekin
Patients with unclear patterns of developmental and cognitive delay may go years without a definitive diagnosis despite extensive testing due to overlapping phenotypes of many genetic disorders. In this study, we identified causative variants in DYRK1A, KARS, or KAT6A in four individuals with global developmental delay and various findings including microcephaly and sensorineural hearing loss using whole exome sequencing. We present the cognitive, neurologic, and physical findings of four individuals to expand the clinical knowledge of possible features of the phenotypes of three rare genetic disorders...
June 2017: Journal of Pediatric Genetics
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