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https://www.readbyqxmd.com/read/27925356/development-and-testing-of-a-screener-for-intelligence-and-learning-disabilities-scil
#1
Henk Nijman, Hendrien Kaal, Lesley van Scheppingen, Xavier Moonen
BACKGROUND: Many clients in contact with social services and (mental) health care have mild to borderline intellectual disabilities (MBID). Yet, administering a full intelligence test may not be feasible. METHOD: In 318 adults and 305 juveniles, the scores on 14 questions that comprise the screener for intelligence and learning disabilities (SCIL) were analysed in relation to the IQs of the participants. RESULTS: The SCIL score had good predictive validity for detecting MBID in adults (AUC = 0...
December 7, 2016: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/27925204/rabs-membrane-dynamics-and-parkinson-s-disease
#2
REVIEW
Bor Luen Tang
Genes encoding cellular membrane trafficking components, namely RAB7L1 and RAB39B, are more recently recognized factors associated with Parkinson's disease (PD). Encoded by a gene within the PARK16 locus, RAB7L1 interacts with Leucine-rich repeat kinase 2 (LRRK2) to act in intracellular transport processes that are likely important in neuronal survival and function. LRRK2 also directly phosphorylates a number of other Rab proteins. On the other hand, nonsense and missense mutations of the X-chromosome localized RAB39B, were shown to underlie X-linked intellectual disability (ID) in male patients with early-onset PD...
December 7, 2016: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/27925162/facial-dysmorphism-is-influenced-by-ethnic-background-of-the-patient-and-of-the-evaluator
#3
Aimé Lumaka, Nele Cosemans, Aimée Lulebo Mampasi, Gerrye Mubungu, Nono Mvuama, Toni Lubala, Sebastien Mbuyi-Musanzayi, Jeroen Breckpot, Maureen Holvoet, Thomy De Ravel, Griet Van Buggenhout, Hilde Peeters, Dian Donnai, Leon Mutesa, Alain Verloes, Prosper Lukusa Tshilobo, Koenraad Devriendt
The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID). First, 10 experienced clinicians (5 from Africa and 5 from Europe) rated gestalt in 127 African non-Down Syndrome (non-DS) patients using either the score 2 for "clearly dysmorphic", 0 for "clearly non dysmorphic" or 1 for "uncertain". The inter-rater agreement was determined using kappa coefficient...
December 7, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27924437/disability-life-writing-and-the-problem-of-dependency-in-the-autobiography-of-gaby-brimmer
#4
Rachel Adams
Independence was a core value of the movement for disability rights. People with disabilities did not have to be dependent, advocates claimed; they were robbed of autonomy by poverty, social prejudice, and architectural barriers. Recently, critics have noted that the emphasis on independence equates personhood with autonomy, reason, and self-awareness, thereby excluding those who are incapable of self-determination. The stigma of dependency is communicated to caregivers whose work is devalued and undercompensated...
December 7, 2016: Journal of Medical Humanities
https://www.readbyqxmd.com/read/27922856/health-profiles-and-associated-service-use-among-adults-with-hiv-and-intellectual-and-developmental-disabilities
#5
Yona Lunsky, Anna Durbin, Hilary K Brown, Symron Bansal, Marina Heifetz, Tony Antoniou
OBJECTIVE (S): Due to the commonly held notion that individuals with intellectual and developmental disabilities (IDD) have low risk of HIV acquisition, we compared the prevalence of HIV infection among people with and without IDD. We also examined health status and health service use among the HIV-infected group. DESIGN: Population-based cohort study using linked administrative health and social services databases. METHODS: We compared HIV prevalence between Ontario adults with IDD (n=64,008) and a 20% random sample of Ontario adults without IDD...
December 5, 2016: AIDS
https://www.readbyqxmd.com/read/27922243/late-diagnosed-phenylketonuria-in-an-eight-year-old-boy-with-dyslexia-and-attention-deficit-hyperactivity-disorder
#6
Yılmaz Yıldız, Ali Dursun, Ayşegül Tokatlı, Turgay Coşkun, Hatice Serap Sivri
Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs. Here, we report a male patient presenting with dyslexia and attention-deficit hyperactivity disorder, who was diagnosed with mild phenylketonuria at eight years of age. Earlier recognition and treatment before the establishment of irreversible brain damage would have resulted in better neurobehavioural outcomes. Classical phenylketonuria and milder phenotypes of phenylalanine hydroxylase deficiency need to be considered in the differential diagnosis of all cognitive and behavioural problems of unknown cause...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922231/evaluation-of-central-nervous-system-in-patients-with-glycogen-storage-disease-type-1a
#7
Yusuf Aydemir, Figen Gürakan, İnci Nur Saltık Temizel, Hülya Demir, Kader Karlı Oğuz, Dilek Yalnızoğlu, Meral Topçu, Hasan Özen, Aysel Yüce
We aimed to evaluate structure and functions of central nervous system (CNS) in children with glycogen storage disease (GSD) type 1a. Neurological examination, psychometric tests, electroencephalography (EEG), magnetic resonance imaging (MRI), visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) were performed. The results were compared between patients with good and poor metabolic control and healthy children. Twenty-three patients with GSD type 1a were studied. Twelve patients were in poor metabolic control group and 11 patients in good metabolic control group...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27920638/interstitial-1q21-1-microdeletion-is-associated-with-severe-skeletal-anomalies-dysmorphic-face-and-moderate-intellectual-disability
#8
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa
We report on a Brazilian patient with a 1.7-Mb interstitial microdeletion in chromosome 1q21.1. The phenotypic characteristics include microcephaly, a peculiar facial gestalt, cleft lip/palate, and multiple skeletal anomalies represented by malformed phalanges, scoliosis, abnormal modeling of vertebral bodies, hip dislocation, abnormal acetabula, feet anomalies, and delayed neuropsychological development. Deletions reported in this region are clinically heterogeneous, ranging from subtle phenotypic manifestations to severe congenital heart defects and/or neurodevelopmental findings...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920637/endocrinological-abnormalities-are-a-main-feature-of-17p13-1-microduplication-syndrome-a-new-case-and-literature-review
#9
Ilenia Maini, Ivan Ivanovski, Alessandro Iodice, Simonetta Rosato, Marzia Pollazzon, Manuela Mussini, Elga F Belligni, Charles Coutton, Maria Marinelli, Veronica Barbieri, Manuela Napoli, Rosario Pascarella, Chiara Sartori, Francesca Madia, Carlo Fusco, Fabrizia Franchi, Maria E Street, Livia Garavelli
To date, 5 cases of 17p13.1 microduplications have been described in the literature. Intellectual disability was reported as the core feature, together with minor facial dysmorphisms and obesity, but a characteristic phenotype for 17p13.1 microduplication has not been delineated. Here, we describe a patient with a 1.56-Mb de novo duplication in 17p13.1, affected by mild intellectual disability, facial dysmorphisms, obesity, and diabetes. By comparing the different phenotypes of currently described cases, we delineated the main clinical features of 17p13...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920633/lesch-nyhan-syndrome-models-theories-and-therapies
#10
REVIEW
Scott Bell, Ilaria Kolobova, Liam Crapper, Carl Ernst
Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by mutations in HPRT1, an important enzyme in the purine salvage pathway. Symptoms of LNS include dystonia, gout, intellectual disability, and self-mutilation. Despite having been characterized over 50 years ago, it remains unclear precisely how deficits in hypoxanthine and guanine recycling can lead to such a profound neurological phenotype. Several studies have proposed different hypotheses regarding the etiology of this disease, and several treatments have been tried in patients, though none have led to a satisfactory explanation of the disease...
November 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27920410/a-novel-splice-site-mutation-in-the-aspm-gene-underlies-autosomal-recessive-primary-microcephaly
#11
Jamil A Hashmi, Khalid M Al-Harbi, Khushnooda Ramzan, Alia M Albalawi, Amir Mehmood, Mohammed I Samman, Sulman Basit
BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disorder. Patients with MCPH exhibit reduced occipito-frontal head circumference and non-progressive intellectual disability. To date, 17 genes have been known as an underlying cause of MCPH in humans. ASPM (abnormal spindle-like, microcephaly associated) is the most commonly mutated MCPH gene. OBJECTIVE: Identify the genetic defect underlying MCPH in a Saudi family...
November 2016: Annals of Saudi Medicine
https://www.readbyqxmd.com/read/27920085/quality-of-prescribing-of-antipsychotic-medication-for-people-with-intellectual-disability-under-the-care-of-uk-mental-health-services-a-cross-sectional-audit-of-clinical-practice
#12
Carol Paton, Sumera Bhatti, Kiran Purandare, Ashok Roy, Tre Barnes
OBJECTIVES: To determine the prevalence and quality of antipsychotic prescribing for people with intellectual disability (ID). DESIGN: A clinical audit of prescribing practice in the context of a quality improvement programme. Practice standards for audit were derived from relevant, evidence-based guidelines, including NICE. Data were mainly collected from the clinical records, but to determine the clinical rationale for using antipsychotic medication in individual cases, prescribers could also be directly questioned...
December 5, 2016: BMJ Open
https://www.readbyqxmd.com/read/27918746/use-of-the-universal-pain-assessment-tool-for-evaluating-pain-associated-with-tmd-in-youngsters-with-an-intellectual-disability
#13
G Dugashvili, L Van den Berghe, G Menabde, M Janelidze, L Marks
BACKGROUND: The Universal Pain Assessment Tool (UPAT) was used to assess the level of pain in people with limited communication skills. The UPAT enables clinicians to consult a specialized pain management team more often and lead to earlier interventions. The purpose of this study was to determine, whether the UPAT could be used as an extra tool to collect data on functional TMJ pain and to assess orofacial pain levels related to temporomandibular disorder(s) (TMD) in people with intellectual disabilities (ID)...
December 6, 2016: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/27916860/novel-pigt-variant-in-two-brothers-expansion-of-the-multiple-congenital-anomalies-hypotonia-seizures-syndrome-3-phenotype
#14
Nadia Skauli, Sean Wallace, Samuel C C Chiang, Tuva Barøy, Asbjørn Holmgren, Asbjørg Stray-Pedersen, Yenan T Bryceson, Petter Strømme, Eirik Frengen, Doriana Misceo
Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs...
November 29, 2016: Genes
https://www.readbyqxmd.com/read/27915094/clinical-features-associated-with-ctnnb1-de-novo-loss-of-function-mutations-in-ten-individuals
#15
Mira Kharbanda, Daniela T Pilz, Susan Tomkins, Kate Chandler, Anand Saggar, Alan Fryer, Victoria McKay, Pedro Louro, Jill Clayton Smith, John Burn, Usha Kini, Anna De Burca, David R FitzPatrick, Esther Kinning, D D D Study
Loss of function mutations in CTNNB1 have been reported in individuals with intellectual disability [MIM #615075] associated with peripheral spasticity, microcephaly and central hypotonia, suggesting a recognisable phenotype associated with haploinsufficiency for this gene. Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified eleven further individuals with de novo loss of function mutations in CTNNB1. Here we report detailed phenotypic information on ten of these...
November 30, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27914305/effectiveness-of-a-cross-circuit-exercise-training-program-in-improving-the-fitness-of-overweight-or-obese-adolescents-with-intellectual-disability-enrolled-in-special-education-schools
#16
Wen-Lan Wu, Yu-Fen Yang, I-Hua Chu, Hsiu-Tao Hsu, Feng-Hua Tsai, Jing-Min Liang
This study assessed the effects of a cross-circuit training intervention program on the body composition, cardiorespiratory fitness, balance, and muscular strength endurance of overweight or obese students with intellectual disability. A total of 43 students with intellectual disability (aged 13-19 years) were enrolled in this program; 28 overweight/obese students were assigned to either an obesity-control group (n=14) or obesity-exercise group (n=14), and those with normal weight were assigned to a normal weight group (n=15)...
November 30, 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27914303/a-necessary-evil-residential-placement-of-people-with-intellectual-disability-among-the-palestinian-minority-in-israel
#17
Kareem Nasser, Dalia Sachs, Amalia Sa'ar
Among the Palestinian minority in Israel, residential placement of people with intellectual disabilities [ID] is relatively new and steadily increasing, but poorly studied. A qualitative design was used to explore the process of residential placement decision by 18 parents of people with ID through semi-structured interviews. Sampling was purposive and data was analyzed thematically. Four main themes emerged representing parents' perceptions and experiences along the placement decision-making process, together indicating an experience of deeply 'conflicted parenting': (a) initial resistance to placement and its perception as abandonment and parental failure; (b) attrition following cumulative difficulties and lack of assistance; (c) resignation and reframing of placement as a necessary evil; (d) relief mixed with guilt, pain, and ambivalence following placement...
November 30, 2016: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/27914010/recruitment-by-the-repressor-freud-1-of-histone-deacetylase-brg1-chromatin-remodeling-complexes-to-strengthen-htr1a-gene-repression
#18
Tatiana Souslova, Kim Mirédin, Anne M Millar, Paul R Albert
Five-prime repressor element under dual repression binding protein-1 (Freud-1)/CC2D1A is genetically linked to intellectual disability and implicated in neuronal development. Freud-1 represses the serotonin-1A (5-HT1A) receptor gene HTR1A by histone deacetylase (HDAC)-dependent or HDAC-independent mechanisms in 5-HT1A-negative (e.g., HEK-293) or 5-HT1A-expressing cells (SK-N-SH), respectively. To identify the underlying mechanisms, Freud-1-associated proteins were affinity-purified from HEK-293 nuclear extracts and members of the Brg1/SMARCCA chromatin remodeling and Sin3A-HDAC corepressor complexes were identified...
December 2, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27913285/autosomal-recessive-spinocerebellar-ataxia-20-report-of-a-new-patient-and-review-of-literature
#19
Anju Shukla, Priyanka Upadhyai, Jhanvi Shah, K Neethukrishna, Stephanie Bielas, K M Girisha
Inherited ataxias are an extremely heterogeneous group of disorders. Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and skeletal abnormalities. Mutations in the gene SNX14, which plays an important role in autophagy, have been found to cause SCAR20. The unique clinical findings of progressive coarsening of facial features makes the clinical phenotype recognizable among the various hereditary ataxias...
November 29, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27912106/a-multicenter-randomized-controlled-trial-for-bright-light-therapy-in-adults-with-intellectual-disabilities-and-depression-study-protocol-and-obstacle-management
#20
Pauline C M Hamers, Heleen M Evenhuis, Heidi Hermans
Due to the limited cognitive and communicative abilities of adults with intellectual disabilities (ID), current treatment options for depression are often limited to lifestyle changes and pharmacological treatment. Bright light therapy (BLT) is an effective intervention for both seasonal and non-seasonal depression in the general population. BLT is an inexpensive, easy to carry out intervention with minimal side effects. However, knowledge on its anti-depressant effect in adults with ID is lacking. Obstacles in realizing a controlled intervention study in this particular study population may have contributed to this lack...
November 29, 2016: Research in Developmental Disabilities
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