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Intellectual disability

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https://www.readbyqxmd.com/read/28742629/noonan-syndrome-an-underestimated-cause-of-severe-to-profound-sensorineural-hearing-impairment-which-clues-to-suspect-the-diagnosis
#1
Alban Ziegler, Natalie Loundon, Laurence Jonard, Hélène Cavé, Geneviève Baujat, Souad Gherbi, Vincent Couloigner, Sandrine Marlin
OBJECTIVE: To highlight Noonan syndrome as a clinically recognizable cause of severe to profound sensorineural hearing impairment. STUDY DESIGN: New clinical cases and review. SETTING: Patients evaluated for etiological diagnosis by a medical geneticist in a reference center for hearing impairment. PATIENTS: Five patients presenting with confirmed Noonan syndrome and profound sensorineural hearing impairment. INTERVENTIONS: Diagnostic and review of the literature...
July 24, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28741757/equivalent-missense-variant-in-the-foxp2-and-foxp1-transcription-factors-causes-distinct-neurodevelopmental-disorders
#2
Elliot Sollis, Pelagia Deriziotis, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto, Mariette J V Hoffer, Claudia A L Ruivenkamp, Mariëlle Alders, Nobuhiko Okamoto, Emilia K Bijlsma, Astrid S Plomp, Simon E Fisher
The closely related paralogues FOXP2 and FOXP1 encode transcription factors with shared functions in the development of many tissues, including the brain. However, while mutations in FOXP2 lead to a speech/language disorder characterized by childhood apraxia of speech (CAS), the clinical profile of FOXP1 variants includes a broader neurodevelopmental phenotype with global developmental delay, intellectual disability and speech/language impairment. Using clinical whole-exome sequencing, we report an identical de novo missense FOXP1 variant identified in three unrelated patients...
July 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28739259/the-use-of-technology-by-adolescents-with-intellectual-and-developmental-disabilities
#3
Susan M Burke
No abstract text is available yet for this article.
July 21, 2017: Journal of Pediatric Nursing
https://www.readbyqxmd.com/read/28738538/diosmin-improved-cognitive-deficit-and-amplified-brain-electrical-activity-in-the-rat-model-of-traumatic-brain-injury
#4
Mohammad Ali Mirshekar, Hamed Fanaei, Fereshteh Keikhaei, Fatemeh Sargolzaee Javan
OBJECTIVE: Traumatic brain injury (TBI) is one of the main causes of intellectual and cognitive disabilities in humans. Clinically, it is essential to limit the progress of cognitive impairment after TBI. It is reported that diosmin has a neuroprotective effect that can limit the progress of the impairment. The aim of this study was to evaluate the effects of diosmin on neurological score, memory, tumor necrosis factor-α (TNF-α) level and long-term potentiation in hippocampal dentate gyrus after the injury...
July 20, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28738136/key-word-signing-usage-of-adults-with-intellectual-disabilities-influence-of-communication-partners-sign-usage-and-responsivity
#5
Ellen Rombouts, Bea Maes, Inge Zink
Purpose: In services for adults with intellectual disabilities, various staff members may have different key word signing (KWS) skills and conversational style. Little is known about how these clients use KWS with different staff members. Therefore, we observed staff-client conversations and examined how clients' KWS usage was shaped by staff members' KWS usage and conversational style. Method: Three 10-min dyadic conversations between an adult with moderate or severe intellectual disabilities (N = 15) and three familiar staff members were filmed and transcribed...
July 24, 2017: American Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/28737287/internet-and-cell-phone-usage-patterns-among-young-adults-with-intellectual-disabilities
#6
Cristina Jenaro, Noelia Flores, Maribel Cruz, Ma Carmen Pérez, Vanessa Vega, Víctor A Torres
BACKGROUND: The risks and opportunities associated with the use of technologies are of growing research interest. Patterns of technology usage illuminate these opportunities and risks. However, no studies have assessed the usage patterns (frequency, duration, and intensity) and related factors in young people with intellectual disabilities. METHODS: Questionnaires on Internet and cell phone usage patterns, the Internet Over-Use Scale and the Cell-Phone Over-Use Scale, as well as the Beck Depression Inventory were filled out in one-on-one interviews of 216 youth with intellectual disabilities...
July 24, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28737203/pain-insensitivity-in-a-child-with-a-de-novo-interstitial-deletion-of-the-long-arm-of-the-chromosome-4-case-report
#7
Marco Cascella, María Rosaria Muzio
Terminal and interstitial deletions of the distal segment of the long arm of chromosome 4 (Cr4q del) are not common genetic disorders. The severity of the phenotype is correlated with the size of the deletion because small deletions have little clinical impact, whereas large deletions are usually associated with multiple congenital anomalies, postnatal growth failure, and moderate to severe intellectual disability. Alteration in pain tolerance has not been included among these features, also in case of large deletions...
June 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28736116/central-nervous-system-anomalies-in-craniofacial-microsomia-a-systematic-review
#8
REVIEW
R W Renkema, C J J M Caron, E B Wolvius, D J Dunaway, C R Forrest, B L Padwa, M J Koudstaal
Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted...
July 20, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28735298/foxp1-related-intellectual-disability-syndrome-a-recognisable-entity
#9
Ilse Meerschaut, Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A Rouleau, Fadi F Hamdan, Jacques L Michaud, Jenny Morton, Jessica Radley, Nicola Ragge, Sixto García-Miñaúr, Pablo Lapunzina, Maria Palomares Bralo, Maria Ángeles Mori, Stéphanie Moortgat, Valérie Benoit, Sandrine Mary, Nele Bockaert, Ann Oostra, Olivier Vanakker, Milen Velinov, Thomy Jl de Ravel, Djalila Mekahli, Jonathan Sebat, Keith K Vaux, Nataliya DiDonato, Andrea K Hanson-Kahn, Louanne Hudgins, Bruno Dallapiccola, Antonio Novelli, Luigi Tarani, Joris Andrieux, Michael J Parker, Katherine Neas, Berten Ceulemans, An-Sofie Schoonjans, Darina Prchalova, Marketa Havlovicova, Miroslava Hancarova, Magdalena Budisteanu, Annelies Dheedene, Björn Menten, Patrick A Dion, Damien Lederer, Bert Callewaert
BACKGROUND: Mutations in forkhead box protein P1 (FOXP1) cause intellectual disability (ID) and specific language impairment (SLI), with or without autistic features (MIM: 613670). Despite multiple case reports no specific phenotype emerged so far. METHODS: We correlate clinical and molecular data of 25 novel and 23 previously reported patients with FOXP1 defects. We evaluated FOXP1 activity by an in vitro luciferase model and assessed protein stability in vitro by western blotting...
July 22, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28735262/effectiveness-of-melatonin-in-treating-sleep-problems-in-children-with-intellectual-disability
#10
Irwin Gill, Jacqueline McBrien
No abstract text is available yet for this article.
July 22, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28734799/eeg-analysis-of-seizure-patterns-using-visibility-graphs-for-detection-of-generalized-seizures
#11
Lei Wang, Xi Long, Johan B A M Arends, Ronald M Aarts
BACKGROUND: The traditional EEG features in the time and frequency domain show limited seizure detection performance in the epileptic population with intellectual disability (ID). In addition, the influence of EEG seizure patterns on detection performance was less studied. NEW METHOD: A single-channel EEG signal can be mapped into visibility graphs (VGS), including basic visibility graph (VG), horizontal VG (HVG), and difference VG (DVG). These graphs were used to characterize different EEG seizure patterns...
July 19, 2017: Journal of Neuroscience Methods
https://www.readbyqxmd.com/read/28733957/a-review-of-biomarkers-for-alzheimer-s-disease-in-down-syndrome
#12
REVIEW
Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu
Down syndrome (Trisomy 21; DS) is a unique disease known to be associated with early-onset Alzheimer's disease (AD). The initial presentation of AD in DS is usually difficult to recognize, owing to the underlying intellectual disabilities. Using biomarkers as a prediction tool for detecting AD in at-risk people with DS may benefit patient care. The objective of this review is to discuss the utility of biomarkers in DS on the basis of the pathophysiology of the disease and to provide an update on recent studies in this field...
July 2017: Neurology and Therapy
https://www.readbyqxmd.com/read/28732254/going-down-the-tubes-impact-on-seizure-control-of-antiepileptic-medication-given-via-percutaneous-feeding-tubes
#13
REVIEW
Caryn Jory, Rohit Shankar, Katy Oak, Janina Oates, Mike Wilcock
BACKGROUND: Long-term feeding by percutaneous endoscopic gastrostomy tube (PEG) is uncommon but can present significant issues when both nutrition and medication have to be fed down the same tube. This is especially important in people with epilepsy where the dose and bioavailability of antiepileptic drugs are critical to maintain adequate seizure control. This group with long-term PEG tubes is particularly vulnerable and dependent on their carers to provide high standard of care. Indeed, approximately half of the people with long-term feeding tubes suffer from severe intellectual disability which requires careful coordination of all members of the multidisciplinary team...
July 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28731608/dietetic-and-educational-interventions-improve-clinical-outcomes-of-diabetic-and-obese-clients-with-mental-impairment
#14
Kerri Hunt, Kathy Stiller
AIM: The aim of this study was to evaluate the effect of dietetic and educational interventions provided to clients with type 2 diabetes (with or without obesity) or obesity-only residing in supported residential facilities and characterised by mental impairment. METHODS: A retrospective audit involving the retrieval of information from medical records and databases was undertaken to evaluate the effect of dietetic and educational interventions. Clinical outcomes were weight, body mass index and glycosylated haemoglobin (HbA1c) levels...
July 2017: Nutrition & Dietetics: the Journal of the Dietitians Association of Australia
https://www.readbyqxmd.com/read/28731148/molecular-genetics-and-targeted-therapy-of-wnt-related-human-diseases-review
#15
Masuko Katoh, Masaru Katoh
Canonical WNT signaling through Frizzled and LRP5/6 receptors is transduced to the WNT/β-catenin and WNT/stabilization of proteins (STOP) signaling cascades to regulate cell fate and proliferation, whereas non-canonical WNT signaling through Frizzled or ROR receptors is transduced to the WNT/planar cell polarity (PCP), WNT/G protein-coupled receptor (GPCR) and WNT/receptor tyrosine kinase (RTK) signaling cascades to regulate cytoskeletal dynamics and directional cell movement. WNT/β-catenin signaling cascade crosstalks with RTK/SRK and GPCR-cAMP-PKA signaling cascades to regulate β-catenin phosphorylation and β-catenin-dependent transcription...
July 19, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28730825/the-implication-of-ampa-receptor-in-synaptic-plasticity-impairment-and-intellectual-disability-in-fragile-x-syndrome
#16
G-R Cheng, X-Y Li, Y-D Xiang, D Liu, S M McClintock, Y Zeng
Fragile X syndrome (FXS) is the most frequently inherited form of intellectual disability and prevalent single-gene cause of autism. A priority of FXS research is to determine the molecular mechanisms underlying the cognitive and social functioning impairments in humans and the FXS mouse model. Glutamate ionotropic alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptors (AMPARs) mediate a majority of fast excitatory neurotransmission in the central nervous system and are critically important for nearly all aspects of brain function, including neuronal development, synaptic plasticity, and learning and memory...
July 18, 2017: Physiological Research
https://www.readbyqxmd.com/read/28730746/management-and-prevalence-of-long-term-conditions-in-primary-health-care-for-adults-with-intellectual-disabilities-compared-with-the-general-population-a-population-based-cohort-study
#17
Sally-Ann Cooper, Laura Hughes-McCormack, Nicola Greenlaw, Alex McConnachie, Linda Allan, Marion Baltzer, Laura McArthur, Angela Henderson, Craig Melville, Paula McSkimming, Jill Morrison
BACKGROUND: In the UK, general practitioners/family physicians receive pay for performance on management of long-term conditions, according to best-practice indicators. METHOD: Management of long-term conditions was compared between 721 adults with intellectual disabilities and the general population (n = 764,672). Prevalence of long-term conditions was determined, and associated factors were investigated via logistic regression analyses. RESULTS: Adults with intellectual disabilities received significantly poorer management of all long-term conditions on 38/57 (66...
July 20, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28729910/drug-induced-gingival-hyperplasia-a-retrospective-study-using-spontaneous-reporting-system-databases
#18
Haruna Hatahira, Junko Abe, Yuuki Hane, Toshinobu Matsui, Sayaka Sasaoka, Yumi Motooka, Shiori Hasegawa, Akiho Fukuda, Misa Naganuma, Tomofumi Ohmori, Yasutomi Kinosada, Mitsuhiro Nakamura
BACKGROUND: Drug-induced gingival hyperplasia (DIGH) causes problems with chewing, aesthetics, and pronunciation, and leads to the deterioration of the patient's quality of life (QOL). Thus, the aim of this study was to evaluate the incidence of DIGH using spontaneous reporting system (SRS) databases. METHODS: We analyzed reports of DIGH from SRS databases and calculated the reporting odds ratios (RORs) of suspected drugs (immunosuppressants, calcium channel blockers, and anticonvulsants)...
2017: Journal of Pharmaceutical Health Care and Sciences
https://www.readbyqxmd.com/read/28728837/epileptic-apnea-in-a-patient-with-inherited-glycosylphosphatidylinositol-anchor-deficiency-and-pigt-mutations
#19
Kosuke Kohashi, Akihiko Ishiyama, Shota Yuasa, Tomomi Tanaka, Kazushi Miya, Yuichi Adachi, Noriko Sato, Hirotomo Saitsu, Chihiro Ohba, Naomichi Matsumoto, Yoshiko Murakami, Taroh Kinoshita, Kenji Sugai, Masayuki Sasaki
We report an 11-month-old boy with acetazolamide-responsive epileptic apnea and inherited glycosylphosphatidylinositol (GPI)-anchor deficiency who presented with decreased serum alkaline phosphatase associated with compound PIGT mutations. The patient exhibited congenital anomalies, severe intellectual disability, and seizures, including epileptic apnea with epileptiform discharges from bilateral temporal areas. Brain magnetic resonance imaging revealed delayed myelination and progressive atrophy of the brainstem, cerebellum, and cerebrum...
July 17, 2017: Brain & Development
https://www.readbyqxmd.com/read/28726807/when-genotype-is-not-predictive-of-phenotype-implications-for-genetic-counseling-based-on-21-594-chromosomal-microarray-analysis-examinations
#20
Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon-Fishman, Lital Cohen-Vig, Yael Goldberg, Racheli Berger, Lina Basel-Salmon, Mordechai Shohat
PurposeTo compare the frequency of copy-number variants (CNVs) of variable penetrance in low-risk and high-risk prenatal samples and postnatal samples.MethodsTwo cohorts were categorized according to chromosomal microarray analysis (CMA) indication: group I, low-risk prenatal-women with uneventful pregnancy (control group); group II, high-risk prenatal-women whose fetuses had congenital malformations; and group III, postnatal-individuals with unexplained developmental delay/intellectual disability, autism spectrum disorders, or multiple congenital anomalies...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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