Genomes and Genes
Summary: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
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- Dlugacz H, Droubi L. The Reach and Limitation of the ADA and its Integration Mandate: Implications for the Successful Reentry of Individuals with Mental Disabilities in a Correctional Population. Behav Sci Law. 2017;35:135-161 pubmed publisher..Copyright © 2017 John Wiley & Sons, Ltd. ..
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- Coutinho E, Jacobson L, Pedersen M, Benros M, Nørgaard Pedersen B, Mortensen P, et al. CASPR2 autoantibodies are raised during pregnancy in mothers of children with mental retardation and disorders of psychological development but not autism. J Neurol Neurosurg Psychiatry. 2017;88:718-721 pubmed publisher..These findings complement the known roles of CASPR2 in brain development, and warrant further epidemiological and experimental studies to clarify the role of CASPR2 and possibly other antibodies in neurodevelopmental disorders. ..
- Grau C, Starkovich M, Azamian M, Xia F, Cheung S, Evans P, et al. Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. PLoS ONE. 2017;12:e0175962 pubmed publisher..for array-based CNV analyses and online resources, we identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, ..
- Gabriele M, Vulto van Silfhout A, Germain P, Vitriolo A, Kumar R, Douglas E, et al. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet. 2017;100:907-925 pubmed publisher..Collectively, these results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators. ..
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- Allen A, Cossette P, Delanty N, Eichler E, Goldstein D, Han Y, et al. De novo mutations in epileptic encephalopathies. Nature. 2013;501:217-21 pubmed publisher..Finally, we show that the de novo mutations observed are enriched in specific gene sets including genes regulated by the fragile X protein (P?<?10(-8)), as has been reported previously for autism spectrum disorders. ..
- Kim J, Kang H, Cho J, Lee J, Kim H, Im C. Combined use of multiple computational intracranial EEG analysis techniques for the localization of epileptogenic zones in Lennox-Gastaut syndrome. Clin EEG Neurosci. 2014;45:169-78 pubmed..A combination of multiple iEEG analyses could not only enhance overall accuracy of localizing epileptogenic zones in LGS, but also has the potential to predict outcomes before resective surgery. ..
- Biancalana V, Taine L, Bouix J, Finck S, Chauvin A, De Verneuil H, et al. Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males. Am J Hum Genet. 1996;59:847-54 pubmed..Our results suggest that the threshold of repeat length for abnormal methylation and fragile-site expression may be smaller at FRAXE than at FRAXA. ..
- Lessel D, Schob C, KÃ¼ry S, Reijnders M, Harel T, Eldomery M, et al. De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2017;101:716-724 pubmed publisher..missense mutations in DHX30 in twelve unrelated individuals affected by global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities...
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- Dentici M, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A, et al. Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome. Gene. 2017;628:141-145 pubmed publisher..Gillespie syndrome is characterized by congenital ataxia, mild to moderate intellectual disability and iris hypoplasia...
- Perez Y, Shorer Z, Liani Leibson K, Chabosseau P, Kadir R, Volodarsky M, et al. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome. Brain. 2017;140:928-939 pubmed publisher..Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and oculomotor apraxia. Brain MRI was normal...
- Moscovich M, Ledoux M, Xiao J, Rampon G, Vemula S, Rodriguez R, et al. Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report. BMC Med Genet. 2013;14:70 pubmed publisher..No pathogenic mutations were identified in BRCA1 or BRCA2. Overexpression of TFDP1 has been associated with breast cancer and may also be linked to the tall stature, dysmorphism and dystonia seen in our patient. ..
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- Bassett A, Lowther C, Merico D, Costain G, Chow E, Van Amelsvoort T, et al. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome. Am J Psychiatry. 2017;174:1054-1063 pubmed publisher..The findings have implications for understanding expression of psychotic illness and herald the importance of whole-genome sequencing to appreciate the overall genomic architecture of schizophrenia. ..
- Lyall K, Croen L, Weiss L, Kharrazi M, Traglia M, DeLorenze G, et al. Prenatal Serum Concentrations of Brominated Flame Retardants and Autism Spectrum Disorder and Intellectual Disability in the Early Markers of Autism Study: A Population-Based Case-Control Study in California. Environ Health Perspect. 2017;125:087023 pubmed publisher..exposure to brominated flame retardants (BFRs) is associated with autism spectrum disorder (ASD) or intellectual disability without autism (ID)...
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- Peng H, Hu B, Shi Q, Ratcliffe M, Zhao Q, Qi Y, et al. Removal of ocular artifacts in EEG--an improved approach combining DWT and ANC for portable applications. IEEE J Biomed Health Inform. 2013;17:600-7 pubmed..The results show that the proposed model is effective in removing OAs and meets the requirements of portable systems used for patient monitoring as typified by the OPTIMI project. ..
- Shaughnessy T, Parker F, Hollenshead J, Clottey E, Rubin H. Contemporary Data and Trends in the Economic Costs of Mental Disabilities. Behav Sci Law. 2017;35:162-177 pubmed publisher..Copyright © 2017 John Wiley & Sons, Ltd. ..
- Seltzer L, Paciorkowski A. Genetic disorders associated with postnatal microcephaly. Am J Med Genet C Semin Med Genet. 2014;166C:140-55 pubmed publisher..This is an emerging group of disorders with a fascinating combination of brain malformations, specific epilepsies, movement disorders, and other complex neurobehavioral abnormalities. ..
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- DeVilbiss E, Magnusson C, Gardner R, Rai D, Newschaffer C, Lyall K, et al. Antenatal nutritional supplementation and autism spectrum disorders in the Stockholm youth cohort: population based cohort study. BMJ. 2017;359:j4273 pubmed publisher..during pregnancy is associated with a reduced risk of autism spectrum disorder (ASD) with and without intellectual disability in offspring...
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- Tenorio J, Arias P, Martinez Glez V, Santos F, Garcia Minaur S, Nevado J, et al. Simpson-Golabi-Behmel syndrome types I and II. Orphanet J Rare Dis. 2014;9:138 pubmed publisher..b>Intellectual disability, early motor milestones and speech delay are sometimes present; however, there are a considerable number ..
- Marino B, Lipkin P, Newburger J, Peacock G, Gerdes M, Gaynor J, et al. Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association. Circulation. 2012;126:1143-72 pubmed
- Bostwick B, McLean S, Posey J, Streff H, Gripp K, Blesson A, et al. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017;9:73 pubmed publisher..Here we provide detailed phenotypic and molecular characterisation of individuals with pathogenic variants in CDK13 and propose management guidelines based upon the estimated prevalence of anomalies identified. ..
- Singh T, Walters J, Johnstone M, Curtis D, Suvisaari J, Torniainen M, et al. The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability. Nat Genet. 2017;49:1167-1173 pubmed publisher..In patients with schizophrenia who also have intellectual disability, this burden is concentrated in risk genes associated with neurodevelopmental disorders...
- Liu J, Hsu R, Chang F, Yeh C, Huang C, Chang S, et al. Increase the risk of intellectual disability in children with scabies: A nationwide population-based cohort study. Medicine (Baltimore). 2017;96:e7108 pubmed publisher..The overall incidences of PDC are similar but patients with scabies had a higher risk of developing intellectual disability (ID) (scabies group vs control group: 1.3% vs 0.6%, adjusted hazard ratio: 2...
- Chelban V, Patel N, Vandrovcova J, Zanetti M, Lynch D, Ryten M, et al. Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. Am J Hum Genet. 2017;100:969-977 pubmed publisher..Our results support a non-redundant developmental role of NKX6-2 in humans and imply that NKX6-2 mutations should be considered in the differential diagnosis of spastic ataxia and hypomyelination. ..
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