Genetics of specific reading disability

DeFries, John C.; Alarcón, María Esther Barradas

doi:10.1002/(sici)1098-2779(1996)2:1<39::aid-mrdd7>3.0.co;2-s

Cited by 130 publications

(90 citation statements)

References 39 publications

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“…39 Dyslexia has been identified as having a strong genetic basis. 14,[24][25][26]30,31,40,41 Approximately 40% of siblings, children, or parents of an affected person will have dyslexia. Although dyslexia may be inherited, it may also exist in the absence of a family history.…”

Section: Dyslexiamentioning

confidence: 99%

Learning Disabilities, Dyslexia, and Vision

Handler¹,

Fierson²

2011

Pediatrics

160

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Learning disabilities constitute a diverse group of disorders in which children who generally possess at least average intelligence have problems processing information or generating output. Their etiologies are multifactorial and reflect genetic influences and dysfunction of brain systems. Reading disability, or dyslexia, is the most common learning disability. It is a receptive language-based learning disability that is characterized by difficulties with decoding, fluent word recognition, rapid automatic naming, and/or reading-comprehension skills. These difficulties typically result from a deficit in the phonologic component of language that makes it difficult to use the alphabetic code to decode the written word. Early recognition and referral to qualified professionals for evidence-based evaluations and treatments are necessary to achieve the best possible outcome. Because dyslexia is a language-based disorder, treatment should be directed at this etiology. Remedial programs should include specific instruction in decoding, fluency training, vocabulary, and comprehension. Most programs include daily intensive individualized instruction that explicitly teaches phonemic awareness and the application of phonics. Vision problems can interfere with the process of reading, but children with dyslexia or related learning disabilities have the same visual function and ocular health as children without such conditions. Currently, there is inadequate scientific evidence to support the view that subtle eye or visual problems cause or increase the severity of learning disabilities. Because they are difficult for the public to understand and for educators to treat, learning disabilities have spawned a wide variety of scientifically unsupported vision-based diagnostic and treatment procedures. Scientific evidence does not support the claims that visual training, muscle exercises, ocular pursuit-and-tracking exercises, behavioral/perceptual vision therapy, “training” glasses, prisms, and colored lenses and filters are effective direct or indirect treatments for learning disabilities. There is no valid evidence that children who participate in vision therapy are more responsive to educational instruction than children who do not participate.

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Section: Dyslexiamentioning

confidence: 99%

Learning Disabilities, Dyslexia, and Vision

Handler¹,

Fierson²

2011

Pediatrics

160

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“…Dyslexia has been identified as having a strong genetic basis. 2,8,9 Recent genetic-linkage studies have identified many loci at which dyslexia-related genes are encoded. Approximately 40% of siblings, children, or parents of an affected individual will have dyslexia.…”

Section: American Academy Of Pediatrics Section On Ophthalmology Comentioning

confidence: 99%

Learning Disabilities, Dyslexia, and Vision

2009

Pediatrics

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Learning disabilities, including reading disabilities, are commonly diagnosed in children. Their etiologies are multifactorial, reflecting genetic influences and dysfunction of brain systems. Learning disabilities are complex problems that require complex solutions. Early recognition and referral to qualified educational professionals for evidencebased evaluations and treatments seem necessary to achieve the best possible outcome. Most experts believe that dyslexia is a languagebased disorder. Vision problems can interfere with the process of learning; however, vision problems are not the cause of primary dyslexia or learning disabilities. Scientific evidence does not support the efficacy of eye exercises, behavioral vision therapy, or special tinted filters or lenses for improving the long-term educational performance in these complex pediatric neurocognitive conditions. Diagnostic and treatment approaches that lack scientific evidence of efficacy, including eye exercises, behavioral vision therapy, or special tinted filters or lenses, are not endorsed and should not be recommended. Pediatrics 2009;124:837-844 BACKGROUNDReading is the process of extracting meaning from written symbolic characters. In elementary school, a large amount of time and effort is devoted to the complicated task of learning to read. Because of the difficulties that some children experience with learning to read, Congress mandated that the Eunice Kennedy Shriver National Institute of Child Health and Human Development assemble a national panel of educators and scientists to review the literature to research the optimal methods of teaching children to read. The 2000 report of the National Reading Panel titled "Teaching Children to Read: An EvidenceBased Assessment of the Scientific Research Literature on Reading and Its Implications for Reading Instruction" 1 linked research findings with recommendations for specific approaches to teaching reading to all children.Learning disabilities remain a concern for the children and families involved and for the public. The inability to read and comprehend is a major obstacle to learning, which may have long-term educational, social, and economic consequences. Depending on the definition chosen, 5% to 17.5% of people in the United States have a learning disability, with an estimated 2.6 million children aged 6 to 11 years affected. 2 Learning disabilities often prevent children from reaching their full potential. They may cause children to have difficulty learning to listen, AMERICAN ACADEMY OF PEDIATRICS, SECTION ON OPHTHALMOLOGY, COUNCIL ON CHILDREN WITH DISABILITIES AMERICAN ACADEMY OF OPHTHALMOLOGY AMERICAN ASSOCIATION FOR PEDIATRIC OPHTHALMOLOGY AND STRABISMUS AMERICAN ASSOCIATION OF CERTIFIED ORTHOPTISTS KEY WORDS learning disabilities, vision, dyslexia, ophthalmology, eye examinationThis document is copyrighted and is property of the American Academy of Pediatrics and its Board of Directors. All authors have filed conflict-of-interest statements with the American Academy of Pediat...

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“…Neurobiological investigations using post-mortem brain specimens (Galaburda et al 1985;Galaburda et al 1994) and, more recently, brain morphometry (Eliez et al 2000;Brown et al 2001), diffusion tensor MRI imaging (Klingberg et al 2000;Vandermosten et al 2012) and functional MRI (Shaywitz et al 2002) suggest that disruption of parieto-temporal and, in particular, occipito-temporal systems in dyslexic readers underlie a failure to develop skilled reading. The report that dyslexia is both a familial and heritable disorder was published early on (Hallgren 1950), and was confirmed by twin studies (DeFries and Alarcon 1996). The risk of dyslexia in siblings of affected children is increased more than 3.5 fold (Ziegler et al 2005).…”

mentioning

confidence: 94%

Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families

et al. 2013

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Dyslexia is a frequent neurodevelopmental learning disorder. To date, nine susceptibility loci have been identified, one of them being DYX9, located in Xq27. We performed the first French SNP linkage study followed by candidate gene investigation in dyslexia by studying 12 multiplex families (58 subjects) with at least two children affected, according to categorical restrictive criteria for phenotype definition. Significant results emerged on Xq27.3 within DYX9. The maximum multipoint LOD score reached 3,884 between rs12558359 and rs454992. Within this region, seven candidate genes were investigated for mutations in exonic sequences (CXORF1, CXORF51, SLITRK2, FMR1, FMR2, ASFMR1, FMR1NB), all having a role during brain development. We further looked for 5 0 UTR trinucleotide repeats in FMR1 and FMR2 genes. No mutation or polymorphism co-segregating with dyslexia was found. This finding in French families with Dyslexia showed significant linkage on Xq27.3 enclosing FRAXA, and consequently confirmed the DYX9 region as a robust susceptibility locus. We reduced the previously described interval from 6.8 (DXS1227-DXS8091) to 4 Mb also disclosing a higher LOD score.

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Genetics of specific reading disability

Cited by 130 publications

References 39 publications

Learning Disabilities, Dyslexia, and Vision

Learning Disabilities, Dyslexia, and Vision

Learning Disabilities, Dyslexia, and Vision

Xq27 FRAXA Locus is a Strong Candidate for Dyslexia: Evidence from a Genome-Wide Scan in French Families

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