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Mortality, Predictors and Causes among People with Intellectual Disabilities: A Systematic Narrative Review Supplemented by Machine Learning
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Tyrer, Freya; Kiani, Reza; Rutherford, Mark J. – Journal of Intellectual & Developmental Disability, 2021
Background: There is a need to systematically compare and contrast mortality predictors and disparities in people with intellectual disabilities (ID) for global prevention strategy development. Method: Bibliographic databases and grey literature were searched using systematic review methodology and the machine learning tool "Abstrackr."…
Descriptors: Intellectual Disability, Death, Predictor Variables, Prevention
"SLC2A3" Single-Nucleotide Polymorphism and Duplication Influence Cognitive Processing and Population-Specific Risk for Attention-Deficit/Hyperactivity Disorder
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Merker, Sören; Reif, Andreas; Ziegler, Georg C.; Weber, Heike; Mayer, Ute; Ehlis, Ann-Christine; Conzelmann, Annette; Johansson, Stefan; Müller-Reible, Clemens; Nanda, Indrajit; Haaf, Thomas; Ullmann, Reinhard; Romanos, Marcel; Fallgatter, Andreas J.; Pauli, Paul; Strekalova, Tatyana; Jansch, Charline; Vasquez, Alejandro Arias; Haavik, Jan; Ribasés, Marta; Ramos-Quiroga, Josep Antoni; Buitelaar, Jan K.; Franke, Barbara; Lesch, Klaus-Peter – Journal of Child Psychology and Psychiatry, 2017
Background: Attention-deficit/hyperactivity disorder (ADHD) is a common, highly heritable neurodevelopmental disorder with profound cognitive, behavioral, and psychosocial impairments with persistence across the life cycle. Our initial genome-wide screening approach for copy number variants (CNVs) in ADHD implicated a duplication of…
Descriptors: Attention Deficit Hyperactivity Disorder, Neurological Impairments, Genetic Disorders, Physiology
The Role of Gene DCDC2 in German Dyslexics
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Wilcke, A.; Weissfuss, J.; Kirsten, H.; Wolfram, G.; Boltze, J.; Ahnert, P. – Annals of Dyslexia, 2009
Dyslexia is a complex reading and writing disorder with a strong genetic component. In a German case-control cohort, we studied the influence of the suspected dyslexia-associated gene DCDC2. For the first time in a German cohort, we describe association of a 2445 basepair deletion, first identified in an American study. Evidence of association for…
Descriptors: Dyslexia, Genetics, Etiology, Genetic Disorders
Elevated Serum Triiodothyronine and Intellectual and Motor Disability with Paroxysmal Dyskinesia Caused by a Monocarboxylate Transporter 8 Gene Mutation
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Fuchs, Oliver; Pfarr, Nicole; Pohlenz, Joachim; Schmidt, Heinrich – Developmental Medicine & Child Neurology, 2009
"Monocarboxylate transporter 8" ("MCT8" or SLC16A2) is important for the neuronal uptake of triiodothyronine (T3) in its function as a specific and active transporter of thyroid hormones across the cell membrane, thus being essential for human brain development. We report on a German male with Allan-Herndon-Dudley syndrome…
Descriptors: Brain, Mental Retardation, Genetic Disorders, Genetics
Decision-Making after Prenatal Diagnosis of a Syndrome Predisposing to Intellectual Disability: What Prospective Parents Need to Know and the Importance of Non-Medical Information
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Huyard, Caroline – Journal of Intellectual & Developmental Disability, 2012
Background: Recently researchers have suggested that non-medical information may impact the decision to continue or terminate a pregnancy after a prenatal diagnosis. This study is an investigation of what type of information prospective parents need for this decision-making in the case of a condition predisposing to intellectual disability.…
Descriptors: Decision Making, Clinical Diagnosis, Disability Identification, Pregnancy
Moebius Sequence and Autism Spectrum Disorders--Less Frequently Associated than Formerly Thought
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Briegel, Wolfgang; Schimek, Martina; Kamp-Becker, Inge – Research in Developmental Disabilities: A Multidisciplinary Journal, 2010
Moebius sequence is a rare congenital disorder usually defined as a combination of facial weakness with impairment of ocular abduction. It is questionable, whether there is a strong association of the sequence with autism spectrum disorders (ASDs) as suggested in some earlier case reports and studies. Twenty-two participants with Moebius sequence…
Descriptors: Physical Examinations, Mental Retardation, Autism, Asperger Syndrome