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Intellectual disabilities

Huihui Sun, Naijun Wan, Xinli Wang, Liang Chang, Dazhi Cheng
18p deletion syndrome is a rare chromosomal disease caused by deletion of the short arm of chromosome 18. By using cytogenetic and SNP array analysis, we identified a girl with 18p deletion syndrome exhibiting craniofacial anomalies, intellectual disability, and short stature. G-banding analysis of metaphase cells revealed an abnormal karyotype 46,XX,del(18)(p10). Further, SNP array detected a 15.3-Mb deletion at 18p11.21p11.32 (chr18:12842-15375878) including 61 OMIM genes. Genotype-phenotype correlation analysis showed that clinical manifestations of the patient were correlated with LAMA1, TWSG1, and GNAL deletions...
March 16, 2018: Cytogenetic and Genome Research
Cheng-Chen Pan, Christophe Maïano, Alexandre J S Morin
BACKGROUND: Little research has looked at the associations between sex, weight status and culture, and the physical self-perceptions and body dissatisfaction of individuals with intellectual disabilities (ID) involved in Special Olympics (SO) sports. AIMS: To examine sex- (male vs female), weight status- (non-overweight/obese vs. overweight/obese), and culture-based (North American vs. Asian) differences in physical self-concept and body dissatisfaction among SO athletes...
March 12, 2018: Research in Developmental Disabilities
Harshini Manohar, Pooja Patnaik Kuppili, Preeti Kandasamy, Venkatesh Chandrasekaran, Ravi Philip Rajkumar
BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder commonly associated with Attention Deficit Hyperactivity Disorder (ADHD), the prevalence ranging from 14-70%. The current study attempted to assess the impact of comorbid ADHD in children with ASD, in terms of challenges in diagnosis, treatment, intervention outcomes and parental stress and coping through a naturalistic design. METHODS: Fifty children aged 2-6 years with ASD were recruited, assessed and followed up for six months...
March 2, 2018: Asian Journal of Psychiatry
Sally-Ann Cooper, Elita Smiley, Linda Allan, Jillian Morrison
BACKGROUND: Incidence and determinants of affective disorders among adults with intellectual disabilities are unknown. Aims To investigate affective disorder incidence, and determinants of unipolar depression, compared with general population reports. METHOD: Prospective cohort study measuring mental ill health of adults with mild to profound intellectual disabilities living within a defined community, over 2 years. RESULTS: There was 70% cohort retention (n = 651)...
March 15, 2018: British Journal of Psychiatry: the Journal of Mental Science
Jovana Kovacevic, Gregoire Maroteaux, Desiree Schut, Maarten Loos, Mohit Dubey, Julika Pitsch, Esther Remmelink, Bastijn Koopmans, James Crowley, L Niels Cornelisse, Patrick F Sullivan, Susanne Schoch, Ruud F Toonen, Oliver Stiedl, Matthijs Verhage
De novo heterozygous mutations in STXBP1/Munc18-1 cause early infantile epileptic encephalopathies (EIEE4, OMIM #612164) characterized by infantile epilepsy, developmental delay, intellectual disability, and can include autistic features. We characterized the cellular deficits for an allelic series of seven STXBP1 mutations and developed four mouse models that recapitulate the abnormal EEG activity and cognitive aspects of human STXBP1-encephalopathy. Disease-causing STXBP1 variants supported synaptic transmission to a variable extent on a null background, but had no effect when overexpressed on a heterozygous background...
March 12, 2018: Brain: a Journal of Neurology
Eli T Newcomb, Louis P Hagopian
Children with autism spectrum disorder (ASD) and intellectual disabilities (ID) present with problem behaviour at rates disproportionately higher than their typically-developing peers. Problem behaviour, such as self-injury, aggression, pica, disruption, and elopement result in a diminished quality-of-life for the individual and family. Applied behaviour analysis has a well-established research base, detailing a number of assessment and treatment methods designed to address behaviour problems in children with ASD and ID...
March 14, 2018: International Review of Psychiatry
A B Courtemanche, B P Lloyd, J T Tapp
BACKGROUND: Self-injurious behaviour (SIB) is a treatment-resistant aberrant behaviour that significantly impacts the lives of people with intellectual disabilities (ID). Direct observations of SIB under naturally occurring conditions can inform the unique structural properties of these behaviours, and the contexts in which they occur. While previous applications of sequential analyses have identified strong temporal associations between instances of SIB, they have relied on methods that do not adequately control for chance sequencing and may mask within-participant variability by pooling data across contexts and response topographies...
March 14, 2018: Journal of Intellectual Disability Research: JIDR
C E Homeyard, E Patelarou
OBJECTIVES: To identify the existing antenatal information provision practices for pregnant women with intellectual disabilities in England. To identify how practices between and within local supervising authorities differed, and if midwives were adapting standard antenatal information for pregnant women with intellectual disabilities, including examples of accessible information being used. STUDY DESIGN: Cross-sectional survey. METHODS: All contact supervisors of midwives from acute trusts with maternity services were accessed via the local supervisor of midwives officers' databases and sent a questionnaire...
March 10, 2018: Public Health
Connie McGilloway, David Smith, Rose Galvin
BACKGROUND: Sexual violence is associated with significant morbidity and mortality. The incidence of sexual violence against adults with intellectual disability is significantly higher than in the general population. The aim of this systematic review and qualitative meta-synthesis was to explore the barriers faced by adults with intellectual disability in reporting sexual assault from the perspective of different stakeholders. METHOD: A systematic literature search was conducted to identify relevant studies...
March 13, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
A Dunham, D Kinnear, L Allan, E Smiley, S-A Cooper
BACKGROUND: People with intellectual disabilities face a much greater burden and earlier onset of physical and mental ill-health than the general adult population. Physical-mental comorbidity has been shown to result in poorer outcomes in the general population, but little is known about this relationship in adults with intellectual disabilities. AIMS: To identify whether physical ill-health is associated with mental ill-health in adults with intellectual disabilities and whether the extent of physical multi-morbidity can predict the likelihood of mental ill-health...
March 12, 2018: Journal of Intellectual Disability Research: JIDR
K Francis, A Dougali, K Sideri, C Kroupis, V Vasdekis, K Dima, A Douzenis
OBJECTIVE: Several lines of evidence point to a probable relationship between brain-derived neurotrophic factor (BDNF) and autism spectrum disorder (ASD), but studies have yielded inconsistent findings on the BDNF serum level in ASD. The study aimed to assess those levels in children with ASD and their families. METHOD: BDNF serum levels were measured in 45 ASD children without intellectual disability (ID) and allergies, age 30-42 months and age-matched normal controls...
March 13, 2018: Acta Psychiatrica Scandinavica
Saud Alsahli, Muhammad Talal Alrifai, Saeed Al Tala, Fuad Al Mutairi, Majid Alfadhel
Background: Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait...
2018: Journal of Central Nervous System Disease
Tae-Yong Choi, Seung-Hyun Lee, Yoon-Jung Kim, Jae Ryul Bae, Kwang Min Lee, Youhwa Jo, Soo-Jeong Kim, A-Ram Lee, Sekyu Choi, La-Mee Choi, Sunhoe Bang, Mi-Ryoung Song, Jongkyeong Chung, Kyung Jin Lee, Sung Hyun Kim, Chul-Seung Park, Se-Young Choi
Mutations in the cereblon ( CRBN ) gene cause human intellectual disability, one of the most common cognitive disorders. However, the molecular mechanisms of CRBN -related intellectual disability remain poorly understood. We investigated the role of CRBN in synaptic function and animal behavior using male mouse and Drosophila models. Crbn knockout (KO) mice showed normal brain and spine morphology as well as intact synaptic plasticity; however, they also exhibited decreases in synaptic transmission and presynaptic release probability exclusively in excitatory synapses...
March 12, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
C Ricardo Ramirez, M L Álvarez Gómez, C A Agudelo Vélez, S Zuluaga Penagos, R A Consuegra Peña, K Uribe Hernández, I C Mejía Gil, E M Cano Londoño, M Elorza Parra, J G Franco Vásquez
OBJECTIVE: To evaluate the clinical characteristics, prevalence and factors associated with delirium in critical patients from 5 to 14 years of age. DESIGN: An analytical, cross-sectional observational study was made. Delirium was assessed with the Pediatric-Confusion Assessment Method for the Intensive Care Unit (pCAM-ICU) and motor classification was established with the Delirium Rating Scale Revised-98. SETTING: A pediatric Intensive Care Unit...
March 9, 2018: Medicina Intensiva
Allan Bayat, Lisbeth Birk Møller, Tina Duelund Hjortshøj
KBG syndrome is a rare condition characterised by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement including global developmental delay, seizures, and intellectual disability. This is a case report of a seven-year-old boy, who presented with symptoms fulfilling the diagnostic criteria of KBG syndrome, molecularly confirmed by detection of a heterozygous mutation in ANKRD11. To our knowledge, this is the first patient diagnosed with KBG syndrome in Denmark...
March 12, 2018: Ugeskrift for Laeger
Davide Caputo, Marina Trivisano, Federico Vigevano, Lucia Fusco
CHD2 gene has been described in association with different types of childhood myoclonic epilepsy and is emerging as a gene involved in photosensitivity alone or combined with epilepsy. Recent studies suggest that CHD2 could be responsible for a proper phenotype characterized by infantile-onset generalized epilepsy, intellectual disability, and photosensitivity and in particular with self-induced seizures. We report the case of a child with CHD2 mutation and mild developmental impairment that since the age of 3 years started with myoclonic seizures apparently well responding to antiepileptic drugs and that subsequently developed intractable self-induced seizures...
March 3, 2018: Seizure: the Journal of the British Epilepsy Association
D Zoenen, V Delvenne
INTRODUCTION: The processing of information coming from the elementary sensory systems conditions the development and fulfilment of a child's abilities. A dysfunction in the sensory stimuli processing may generate behavioural patterns that might affect a child's learning capacities as well as his relational sphere. The DSM-5 recognizes the sensory abnormalities as part of the symptomatology of Autism Spectrum Disorders. However, similar features are observed in other neurodevelopmental disorders...
2018: Revue Médicale de Bruxelles
Jessica M Kramer, Christine Helfrich, Melissa Levin, I-Ting Hwang, Preethy S Samuel, Ann Carrellas, Ariel E Schwartz, Aleksandrina Goeva, Eric D Kolaczyk
AIM: Project TEAM (Teens making Environment and Activity Modifications) teaches transition-age young people with developmental disabilities, including those with co-occurring intellectual or cognitive disabilities, to identify and resolve environmental barriers to participation. We examined its effects on young people's attainment of participation goals, knowledge, problem-solving, self-determination, and self-efficacy. METHOD: We used a quasi-experimental, repeated measures design (initial, outcome, 6-week follow-up) with two groups: (1) Project TEAM (28 males, 19 females; mean age 17y 6mo); and (2) goal-setting comparison (21 males, 14 females; mean age 17y 6mo)...
March 12, 2018: Developmental Medicine and Child Neurology
Katherine E Manning, Roger Tait, John Suckling, Anthony J Holland
Prader-Willi syndrome (PWS) is a neurodevelopmental disorder of genomic imprinting, presenting with a characteristic overeating disorder, mild to moderate intellectual disability, and a variable range of social and behavioral difficulties. Consequently, widespread alterations in neural structure and developmental and maturational trajectory would be expected. To date, there have been few quantitative and systematic studies of brain morphology in PWS, although alterations of volume and of cortical organisation have been reported...
2018: NeuroImage: Clinical
I Maini, I Ivanovski, O Djuric, S G Caraffi, E Errichiello, M Marinelli, F Franchi, V Bizzarri, S Rosato, M Pollazzon, C Gelmini, M Malacarne, C Fusco, G Gargano, S Bernasconi, O Zuffardi, L Garavelli
BACKGROUND: Since 2010, array-CGH (aCGH) has been the first-tier test in the diagnostic approach of children with neurodevelopmental disorders (NDD) or multiple congenital anomalies (MCA) of unknown origin. Its broad application led to the detection of numerous variants of uncertain clinical significance (VOUS). How to appropriately interpret aCGH results represents a challenge for the clinician. METHOD: We present a retrospective study on 293 patients with age range 1 month - 29 years (median 7 years) with NDD and/or MCA and/or dysmorphisms, investigated through aCGH between 2005 and 2016...
March 9, 2018: Italian Journal of Pediatrics
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