2035

Deletion of chromosomal regions 13q21 detected by genetic tests in a boy with special learning disorder: A case report

Specific learning disorder (SLD) is defined as significant and persistent learning difficulties leading to unexpected academic underachievement in terms of the subject’s age and cognitive ability, and the level of education provided. SLD has a biological basis determined by genetic and environmental factors. Neurobiological hypotheses have been proposed to account for SLD, and genetic factors have been proved to have a major effect on the etiology. Findings of specific language impairment (SLI), such as speech delay, are frequently seen in early childhood in SLD cases. Recent studies of the etiology of SLI have also focused on genetic causes and have suggested a genetic inheritance. We report the case of a nine-year-old SLD patient with 13q21 deletion, who was a prior diagnosed with language impairment in early childhood. The case is discussed in the light of the current literature

PDF

___

American Psychiatric Association. Diagnostic and statistical manual of mental disorders (DSM-5). 5th Edition. Arlington (VA): American Psychiatric Publishing. 2013.

Wadsworth SJ, DeFries JC, Willcutt EG, et al. The Colorado Longitudinal Twin Study of Reading Difficulties and ADHD: Etiologies of Comorbidity and Stability. Twin Res Hum Genet. 2015;18:755-61.

Astrom RL, Wadsworth SJ, DeFries JC. Etiology of the stability of reading difficulties: the longitudinal study of reading disabilities. Twin Res Hum Genet. 2007;10:434-9.

Melby-Lervåg M, Lervåg A. Oral language skills moderate nonword repetition skills in children with dyslexia: A meta-analysis of the role of nonword repetition skills in dyslexia. Scientific Studies of Reading. 2012;16:1-34.

Pennington BF, Bishop DV. Relations among speech, language, and reading disorders. Annu Rev Psychol. 2009;60:283-306.

Nathan L, Stackhouse J, Goulandris N, et al. The development of earl literacy skills among children with speech difficulties: a test of the “critical age hypothesis”. J Speech Lang Hear Res. 2004;47:377-91.

Newbury DF, Monaco AP, Paracchini S. Reading and language disorders: the importance of both quantity and quality. Genes (Basel). 2014;5:285-309.

McGrath LM, Smith SD, Pennington BF. Breakthroughs in the search for dyslexia candidate genes. Trends Mol Med. 2006;12:333-41.

Gibson CJ, Gruen JR. The human lexinome: genes of language and reading. J Commun Disord. 2008;41:409-20.

Pennington BF, Bishop DV. Relations among speech, language, and reading disorders. Annu Rev Psychol. 2009;60:283-306.

Eicher JD, Gruen JR. Imaging-Genetics in Dyslexia: Connecting risk genetic variants to brain neuroimaging and ultimately to reading impairments. Mol Genet Metab.2013;110:201-12.

Bartlett CW, Flax JF, Logue MW, et al. A major susceptibility locus for specific language impairment is located on 13q21.Am J Hum Genet. 2002;71:45-55.

Lai CS, Fisher SE, Hurst JA, et al. The SPCH1 region on human 7q31: genomic characterization of the critical interval and localization of translocations associated with speech and language disorder. Am J Hum Genet. 2000;67:357-68.

Snowling M, Bishop DV, Stothard SE. Is preschool language impairment a risk factor for dyslexia in adolescence? J Child Psychol Psychiatry. 2000;41:587-600.

Torppa M, Lyytinen P, Erskine J, et al. Language development, literacy skills, and predictive connections to reading in Finnish children with and without familial risk for dyslexia. J Learn Disabil. 2010;43:308-21.

Newbury DF, Monaco AP, Review Genetic advances in the study of speech and language disorders. Neuron. 2010;68:309-20.

Newbury DF, Paracchini S, Scerri TS, et al. Investigation of dyslexia and SLI risk variants in reading- and language impaired subjects. Behav Genet. 2011;41:90-104.

Snowling MJ, Melby-Lervåg M. Oral language deficits in familial dyslexia: A meta-analysis and review. Psychol Bull. 2016; 142:498-545.

Patient: 291602. https://decipher.sanger.ac.uk/patient/291602#overview access date 22.02.2018