keyword
MENU ▼
Read by QxMD icon Read
search

intellectual disabled

keyword
https://www.readbyqxmd.com/read/29166480/-impact-of-moderate-intellectual-disability-on-the-dynamics-and-quality-of-family-life-a-qualitative-clinical-study
#1
Rodrigo Victor Viana Tomaz, Vanessa de Arruda Santos, Lucimar Retto da Silva de Avó, Carla Maria Ramos Germano, Débora Gusmão Melo
This qualitative clinical study investigated the impact of moderate intellectual disability on family dynamics and quality of life. The data were collected using individual interviews with 15 mothers of children with intellectual disabilities, as a convenience sample, and examined with categorical thematic content analysis. The results were discussed using a comprehensive and interpretative approach. Analysis of the interviews showed that care for children with intellectual disabilities is centered on the mother, contributing to the change in family relations...
November 21, 2017: Cadernos de Saúde Pública
https://www.readbyqxmd.com/read/29166393/implicit-theories-concerning-the-intelligence-of-individuals-with-down-syndrome
#2
Claire Enea-Drapeau, Michèle Carlier, Pascal Huguet
Studies over the past three decades have shown that learning difficulties are not only determined by neurological disorders, but also by motivational and/or socio-cognitive factors Among these factors, implicit theories of intelligence (also referred to as conceptions, mindsets or beliefs about intelligence) are key elements. The belief that intelligence is fixed (entity theory), as opposed to malleable (incremental theory), is generally associated with negative teaching practices and poorer student outcomes, yet beliefs about the intelligence of individuals with intellectual disabilities have not received much attention...
2017: PloS One
https://www.readbyqxmd.com/read/29164825/autism-spectrum-disorder-and-birth-spacing-findings-from-the-study-to-explore-early-development-seed
#3
Laura A Schieve, Lin H Tian, Carolyn Drews-Botsch, Gayle C Windham, Craig Newschaffer, Julie L Daniels, Li-Ching Lee, Lisa A Croen, M Danielle Fallin
Previous studies of autism spectrum disorder (ASD) and birth spacing had limitations; few examined phenotypic case subtypes or explored underlying mechanisms for associations and none assessed whether other (non-ASD) developmental disabilities (DDs) were associated with birth spacing. We assessed associations between inter-pregnancy interval (IPI) and both ASD and other DDs using data from the Study to Explore Early Development, a multi-site case-control study with rigorous case-finding and case-classification methods and detailed data collection on maternal reproductive history...
November 22, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29164447/specific-patterns-of-emotion-recognition-from-faces-in-children-with-asd-results-of-a-cross-modal-matching-paradigm
#4
Ofer Golan, Ilanit Gordon, Keren Fichman, Giora Keinan
Children with ASD show emotion recognition difficulties, as part of their social communication deficits. We examined facial emotion recognition (FER) in intellectually disabled children with ASD and in younger typically developing (TD) controls, matched on mental age. Our emotion-matching paradigm employed three different modalities: facial, vocal and verbal. Results confirmed overall FER deficits in ASD. Compared to the TD group, children with ASD had the poorest performance in recognizing surprise and anger in comparison to happiness and sadness, and struggled with face-face matching, compared to voice-face and word-face combinations...
November 21, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29164446/automated-detection-of-repetitive-motor-behaviors-as-an-outcome-measurement-in-intellectual-and-developmental-disabilities
#5
Kristin H Gilchrist, Meghan Hegarty-Craver, Robert B Christian, Sonia Grego, Ashley C Kies, Anne C Wheeler
Repetitive sensory motor behaviors are a direct target for clinical treatment and a potential treatment endpoint for individuals with intellectual or developmental disabilities. By removing the burden associated with video annotation or direct observation, automated detection of stereotypy would allow for longer term monitoring in ecologic settings. We report automated detection of common stereotypical motor movements using commercially available accelerometers affixed to the body and a generalizable detection algorithm...
November 21, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29164441/structure-mapping-in-autism-spectrum-disorder-levels-of-information-processing-and-relations-to-executive-functions
#6
Orit E Hetzroni, Kiril Shalahevich
Analogical reasoning was investigated among children with autism spectrum disorders (ASD) without intellectual disabilities and typical development (TD). Children were asked to select one of two targets in two conditions: (1) with and without spatial structure similarity; (2) with and without a perceptual distractor. Results demonstrate that children with ASD were able to select targets based on structural similarity, but this ability decreased to chance level when presented with a perceptual distractor. Everyday executive functions were positively correlated with structural selections among children with ASD...
November 21, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29164358/medical-and-neuropsychiatric-phenomena-depicted-in-two-spanish-medieval-texts-of-marian-miracles
#7
Francisco de Assis Aquino Gondim, Pamela Bastante, Wilcar Cavalcante Gondim, Joana Gurgel Holanda Filha, Florian P Thomas
In the history of Christianity, veneration of the Virgin Mary reached its greatest intensity in the XIII century. Her perceived impact on daily life was tremendous and not surprisingly this extended to the spheres of disease and healing. The purpose of this study is to compare the medical and neuropsychiatric findings in two XIII century Spanish texts of Marian miracles, both examples of the popular Catholicism (vs. official catholic doctrine). We analyzed the medical and neuropsychiatric events in the Cantigas de Santa Maria (Canticles of St...
November 21, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29163124/the-search-for-an-effective-therapy-to-treat-fragile-x-syndrome-dream-or-reality
#8
REVIEW
Sara Castagnola, Barbara Bardoni, Thomas Maurin
Fragile X Syndrome (FXS) is the most common form of intellectual disability and a primary cause of autism. It originates from the lack of the Fragile X Mental Retardation Protein (FMRP), which is an RNA-binding protein encoded by the Fragile X Mental Retardation Gene 1 (FMR1) gene. Multiple roles have been attributed to this protein, ranging from RNA transport (from the nucleus to the cytoplasm, but also along neurites) to translational control of mRNAs. Over the last 20 years many studies have found a large number of FMRP mRNA targets, but it is still not clear which are those playing a critical role in the etiology of FXS...
2017: Frontiers in Synaptic Neuroscience
https://www.readbyqxmd.com/read/29163043/combination-therapy-in-fragile-x-syndrome-possibilities-and-pitfalls-illustrated-by-targeting-the-mglur5-and-gaba-pathway-simultaneously
#9
Shimriet Zeidler, Helen de Boer, Renate K Hukema, Rob Willemsen
Fragile X syndrome (FXS) is the most common monogenetic cause of intellectual disability and autism. The disorder is characterized by altered synaptic plasticity in the brain. Synaptic plasticity is tightly regulated by a complex balance of different synaptic pathways. In FXS, various synaptic pathways are disrupted, including the excitatory metabotropic glutamate receptor 5 (mGluR5) and the inhibitory γ-aminobutyric acid (GABA) pathways. Targeting each of these pathways individually, has demonstrated beneficial effects in animal models, but not in patients with FXS...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29162951/down-syndrome-screening-in-india-are-we-there-yet
#10
REVIEW
K Manikandan, Suresh Seshadri
Down syndrome is the most common cause of intellectual disability among live born children and is amenable to prenatal detection. Screening for Down syndrome on a population basis requires a thorough understanding of the principles involved in the screening tests. We discuss the rationale behind the commonly available screening tests and the Indian scenario in this setting.
December 2017: Journal of Obstetrics and Gynaecology of India
https://www.readbyqxmd.com/read/29162653/de-novo-variants-in-ebf3-are-associated-with-hypotonia-developmental-delay-intellectual-disability-and-autism
#11
Akemi J Tanaka, Megan T Cho, Rebecca Willaert, Kyle Retterer, Yuri A Zarate, Katie Bosanko, Vikki Stefans, Kimihiko Oishi, Amy Williamson, Golder N Wilson, Alice Basinger, Tina Barbaro-Dieber, Lucia Ortega, Susanna Sorrentino, Melissa K Gabriel, Ilse J Anderson, Maria J Guillen Sacoto, Rhonda E Schnur, Wendy K Chung
Using whole-exome sequencing, we identified seven unrelated individuals with global developmental delay, hypotonia, dysmorphic facial features, and an increased frequency of short stature, ataxia, and autism with de novo heterozygous frameshift, nonsense, splice, and missense variants in the Early B-cell Transcription Factor Family Member 3 (EBF3) gene. EBF3 is a member of the collier/olfactory-1/early B-cell factor (COE) family of proteins, which are required for central nervous system (CNS) development. COE proteins are highly evolutionarily conserved and regulate neuronal specification, migration, axon guidance, and dendritogenesis during development and are essential for maintaining neuronal identity in adult neurons...
November 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29162042/novel-intragenic-deletions-within-the-ube3a-gene-in-two-unrelated-patients-with-angelman-syndrome-case-report-and-review-of-the-literature
#12
Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz, Miriam Guitart
BACKGROUND: Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons of the UBE3A gene, which is located in the 15q11.2-q13 imprinted region. Functional loss of UBE3A is due to 15q11.2-q13 deletion, mutations in the UBE3A gene, paternal uniparental disomy and genomic imprinting defects. CASE PRESENTATION: We report here two patients with clinical features of AS referred to our hospital for clinical follow-up and genetic diagnosis...
November 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29161137/pragmatic-competence-of-children-with-autism-spectrum-disorder-impact-of-theory-of-mind-verbal-working-memory-adhd-symptoms-and-structural-language
#13
Inmaculada Baixauli-Fortea, Ana Miranda Casas, Carmen Berenguer-Forner, Carla Colomer-Diago, Belén Roselló-Miranda
The primary aim of this study is to increase the existing knowledge about the pragmatic skills of children with autism spectrum disorders (ASD). Specifically, the study has two objectives. The first is to provide a profile of characteristics based on The Children's Communication Checklist (CCC-2) pragmatics scales (inappropriate initiation, stereotyped language, use of context, nonverbal communication, and general pragmatics) and narrative task indicators. To this end, children with ASD will be compared to children with typical development (TD), controlling the effects of sex and structural language (speech, syntax, semantics, coherence)...
November 21, 2017: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/29160022/first-prenatal-diagnosis-of-a-pure-9q34-3-deletion-kleefstra-syndrome-a-case-report-and-literature-review
#14
Sarah Guterman, Bérénice Hervé, Julie Rivière, Delphine Fauvert, Patrice Clement, François Vialard
Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features include congenital heart defects, cerebral abnormalities, urogenital defects and weight gain. The syndrome is caused by a microdeletion in chromosomal region 9q34.3 (in 85% of cases) or by a mutation in the EHMT1 gene coding for euchromatin histone methyltransferase 1. The prenatal phenotype has not yet been characterized. Herein, we sought to define this phenotype on the basis of a new case report and literature review...
November 21, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29160006/kaufman-oculocerebrofacial-syndrome-novel-ube3b-mutations-and-clinical-features-in-four-unrelated-patients
#15
Rüstem Yilmaz, Katalin Szakszon, Anna Altmann, Umut Altunoglu, Leyli Senturk, Marianne McGuire, Olga Calabrese, Suneeta Madan-Khetarpal, Lina Basel-Vanagaite, Guntram Borck
The "blepharophimosis-mental retardation" syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral fissures and intellectual disability associate with a distinct set of other morphological features. Kaufman oculocerebrofacial syndrome represents a rare and recently reevaluated entity within the BMR syndromes and is caused by biallelic mutations of UBE3B. Affected individuals typically show microcephaly, impaired somatic growth, gastrointestinal and genitourinary problems, ectodermal anomalies and a characteristic face with short, upslanted palpebral fissures, depressed nasal bridge...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159987/med13l-loss-of-function-variants-in-two-patients-with-syndromic-pierre-robin-sequence
#16
Christopher T Gordon, Maya Chopra, Myriam Oufadem, Olivier Alibeu, Marc Bras, Nathalie Boddaert, Christine Bole-Feysot, Patrick Nitschké, Véronique Abadie, Stanislas Lyonnet, Jeanne Amiel
We report two unrelated patients with Pierre Robin sequence (PRS) and a strikingly similar combination of associated features. Whole exome sequencing was performed for both patients. No single gene containing likely pathogenic point mutations in both patients could be identified, but the finding of an essential splice site mutation in mediator complex subunit 13 like (MED13L) in one patient prompted the investigation of copy number variants in MED13L in the other, leading to the identification of an intragenic deletion...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159939/marked-yield-of-re-evaluating-phenotype-and-exome-target-sequencing-data-in-33-individuals-with-intellectual-disabilities
#17
Bing Xiao, Wenjuan Qiu, Xing Ji, Xiaoqing Liu, Zhuo Huang, Huili Liu, Yanjie Fan, Yan Xu, Yu Liu, Hui Yie, Wei Wei, Hui Yan, Zhuwen Gong, Lixiao Shen, Yu Sun
The diagnosis of intellectual disability/developmental delay (ID/DD) benefits from the clinical application of target/exome sequencing. The yield in Mendelian diseases varies from 25% to 68%. The aim of the present study was to identify the genetic causes of 33 ID/DD patients using target/exome sequencing. Recent studies have demonstrated that reanalyzing undiagnosed exomes could yield additional diagnosis. Therefore, in addition to the normal data analysis, in this study, re-evaluation was performed prior to manuscript preparation after updating OMIM annotations, calling copy number variations (CNVs) and reviewing the current literature...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159891/the-experience-of-sexuality-in-adults-with-intellectual-disability
#18
M D Gil-Llario, V Morell-Mengual, R Ballester-Arnal, I Díaz-Rodríguez
BACKGROUND: People with intellectual disability have the same sexual needs as those without any disability, yet their sexuality is often restricted by reluctant attitudes and/or fears based on irrational beliefs. The aim of this study is to describe and analyse different areas of sexuality in adults with mild or moderate intellectual disability. METHOD: The sample consisted of 180 men and 180 women attending occupational centres. All the participants were administered a questionnaire about sexuality adapted to their characteristics...
November 20, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/29159890/whole-exome-sequencing-reveals-a-mutation-in-armc9-as-a-cause-of-mental-retardation-ptosis-and-polydactyly
#19
Anjana Kar, Shubha R Phadke, Aneek Das Bhowmik, Ashwin Dalal
Intellectual disability (ID) refers to deficits in mental abilities, social behavior, and motor skills to perform activities of daily living as compared to peers. Numerous genetic and environmental factors may be responsible for ID. We report on elucidation of molecular basis for syndromic ID associated with ptosis, polydactyly, and MRI features suggestive of Joubert syndrome using homozygosity mapping followed by exome sequencing. The analysis revealed a novel synonymous variation p.T293T (c.879G>A) which leads to a splicing defect in ARMC9 gene...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29159888/salivary-%C3%AE-amylase-as-a-marker-of-stress-reduction-in-individuals-with-intellectual-disability-and-autism-in-response-to-occupational-and-music-therapy
#20
J Poquérusse, A Azhari, P Setoh, S Cainelli, C Ripoli, P Venuti, G Esposito
BACKGROUND: Although the benefits of a range of disability-centric therapies have been well studied, little remains known about how they work, let alone how to monitor these benefits in a precise and reliable way. METHODS: Here, in two independent studies, we examine how sessions consisting of occupational or music therapy, both widely recognised for their effectiveness, modulate levels of salivary α-amylase (sAA), a now time- and cost-efficient marker of stress, in individuals with intellectual disability and autism spectrum disorder...
November 21, 2017: Journal of Intellectual Disability Research: JIDR
keyword
keyword
85027
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"