Strabismus in Children With Intellectual Disability: Part of a Broader Motor Control Phenotype?

Pediatric Neurology - Tập 100 - Trang 87-91 - 2019
Xin (Cynthia) Ye1,2, Robin van der Lee1,2, Wyeth W. Wasserman1,2, CAUSES Study2, Jan M. Friedman2,3, Anna Lehman2,3
1Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada
2Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
3BC Children's Hospital and BC Women's Hospital, Vancouver, BC, Canada

Tài liệu tham khảo

Carulla, 2011, Intellectual developmental disorders: towards a new name, definition and framework for “mental retardation/intellectual disability” in ICD-11, World Psychiatry, 10, 175, 10.1002/j.2051-5545.2011.tb00045.x Zablotsky, 2017, Estimated prevalence of children with diagnosed developmental Disabilities in the United States, 2014-2016, NCHS Data Brief, 1 Engle, 2007, Genetic basis of congenital strabismus, Arch Ophthalmol, 125, 189, 10.1001/archopht.125.2.189 Ye, 2014, Strabismus genetics across a spectrum of eye misalignment disorders, Clin Genet, 86, 103, 10.1111/cge.12367 Kim, 2012, MR imaging of congenital or developmental neuropathic Strabismus: common and uncommon findings, Am J Neuroradiol, 33, 2056, 10.3174/ajnr.A3136 Maconachie, 2013, Risk factors and genetics in common comitant strabismus: a systematic review of the literature, JAMA Ophthalmol, 131, 1179, 10.1001/jamaophthalmol.2013.4001 BC Data Scout | www.popdata.bc.ca [Internet]. Available at: https://www.popdata.bc.ca/resources/BCDataScout. Accessed July 16, 2018. Szklarczyk, 2017, The STRING database in 2017: quality-controlled protein-protein association networks, made broadly accessible, Nucleic Acids Res, 45, D362, 10.1093/nar/gkw937 2018 Ye, 2019, Curation and bioinformatic analysis of strabismus genes supports functional heterogeneity and proposes candidate genes with connections to RASopathies, Gene, 697, 213, 10.1016/j.gene.2019.02.020 Robinson, 2012, Deep phenotyping for precision medicine, Hum Mutat, 33, 777, 10.1002/humu.22080 Akinci, 2008, Refractive errors and ocular findings in children with intellectual disability: a controlled study, J Am Assoc Pediatr Ophthalmol Strabismus, 12, 477, 10.1016/j.jaapos.2008.04.009 Manto, 2012, Consensus paper: roles of the cerebellum in motor control—the diversity of ideas on cerebellar involvement in movement, Cerebellum, 11, 457, 10.1007/s12311-011-0331-9 Gilman, 1969, The mechanism of cerebellar hypotonia -an experimental study in the monkey, Brain, 92, 621, 10.1093/brain/92.3.621 Patel, 2015, The cerebellum in eye movement control: nystagmus, coordinate frames and disconjugacy, Eye, 29, 191, 10.1038/eye.2014.271 Laugel, 2008, Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates, Eur J Pediatr, 167, 517, 10.1007/s00431-007-0539-3 Wassmer, 2003, Clinical spectrum associated with cerebellar hypoplasia, Pediatr Neurol, 28, 347, 10.1016/S0887-8994(03)00016-X American Academy of Neurology. Evaluation of the child with global developmental delay [Internet]. Available at: http://tools.aan.com/professionals/practice/guidelines/guideline_summaries/Global_Devlopmental_Delay_Clinicians.pdf. Accessed March 28, 2019.