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Dyslexia

MedGen UID:
96906
Concept ID:
C0476254
Mental or Behavioral Dysfunction
Synonym: Dyslexia (disease)
SNOMED CT: Word blindness (9236007); Dyslexia, learning disturbance (59770006); Specific reading difficulty (59770006); Specific reading retardation (59770006); Reading disorder (52824009); Dyslexia (59770006)
 
HPO: HP:0010522
Monarch Initiative: MONDO:0005489

Definition

A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent). [from HPO]

Conditions with this feature

Dyslexia, susceptibility to, 8
MedGen UID:
332344
Concept ID:
C1837009
Finding
Dyslexia, susceptibility to, 2
MedGen UID:
325025
Concept ID:
C1838436
Finding
Congenital bilateral perisylvian syndrome
MedGen UID:
337000
Concept ID:
C1845668
Disease or Syndrome
Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993). PMG may be a feature of other conditions as well (see, e.g., 300643).
Dyslexia, susceptibility to, 1
MedGen UID:
338828
Concept ID:
C1851967
Finding
Dyslexia is a disorder manifested by difficulty learning to read despite conventional instruction, adequate intelligence, and sociocultural opportunity. It is among the most common neurodevelopmental disorders, with a prevalence of 5 to 12%. Although there is evidence for familial clustering and heritability, the disorder is considered a complex multifactorial trait (Schumacher et al., 2007). Genetic Heterogeneity of Susceptibility to Dyslexia Additional dyslexia susceptibility loci include DYX2 (600202) on chromosome 6p22, DYX3 (604254) on chromosome 2p16-p15, DYX5 (606896) on chromosome 3p12-q13, DYX6 (606616) on chromosome 18p11.2, DYX8 (608995) on chromosome 1p36-p34, and DYX9 (300509) on chromosome Xq27.3. See MAPPING for other possible dyslexia susceptibility loci, including DYX4 and DYX7.
Stormorken syndrome
MedGen UID:
350028
Concept ID:
C1861451
Disease or Syndrome
Stormorken syndrome is an autosomal dominant disorder characterized by mild bleeding tendency due to platelet dysfunction, thrombocytopenia, anemia, asplenia, tubular aggregate myopathy, congenital miosis, and ichthyosis. Additional features may include headache or recurrent stroke-like episodes (summary by Misceo et al., 2014).
Periventricular nodular heterotopia 9
MedGen UID:
1718470
Concept ID:
C5394503
Disease or Syndrome
Periventricular nodular heterotopia-9 (PVNH9) is an autosomal dominant neurologic disorder characterized as a malformation of cortical development. Anterior predominant PVNH, thin corpus callosum, and decreased white matter volume are found on brain imaging, but the clinical effects are variable. Most patients have impaired intellectual development and cognitive defects associated with low IQ (range 50 to 80), learning disabilities, and behavior abnormalities. Some patients develop seizures that tend to have a focal origin. However, some mutation carriers may be less severely affected with borderline or even normal IQ, suggesting incomplete penetrance of the phenotype (summary by Heinzen et al., 2018, Walters et al., 2018). For a discussion of genetic heterogeneity of periventricular nodular heterotopia, see 300049.
Developmental delay, impaired speech, and behavioral abnormalities
MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).
Hypogonadotropic hypogonadism 26 with or without anosmia
MedGen UID:
1811919
Concept ID:
C5676903
Disease or Syndrome
HH26 is characterized by micropenis and cryptorchidism at birth in male patients, and absent puberty and anosmia in male or female patients. Some affected individuals also exhibit craniosynostosis (Davis et al., 2020). Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see 147950.
Neurodevelopmental disorder with eye movement abnormalities and ataxia
MedGen UID:
1824014
Concept ID:
C5774241
Disease or Syndrome
Neurodevelopmental disorder with eye movement abnormalities and ataxia (NEDEMA) is characterized by global developmental delay apparent from infancy. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. Abnormal eye movements, which are often noted in early childhood, include opsoclonus, nystagmus, and strabismus. Some patients have seizures, which may be refractory (Lu et al., 2022).

Professional guidelines

PubMed

Ward LM, Kapoula Z
Sci Rep 2020 Dec 17;10(1):22116. doi: 10.1038/s41598-020-79089-1. PMID: 33335200Free PMC Article
Haberstroh S, Schulte-Körne G
Dtsch Arztebl Int 2019 Feb 15;116(7):107-114. doi: 10.3238/arztebl.2019.0107. PMID: 30905334Free PMC Article
Schulte-Körne G
Dtsch Arztebl Int 2010 Oct;107(41):718-26; quiz 27. Epub 2010 Oct 15 doi: 10.3238/arztebl.2010.0718. PMID: 21046003Free PMC Article

Recent clinical studies

Etiology

Sanfilippo J, Ness M, Petscher Y, Rappaport L, Zuckerman B, Gaab N
Pediatrics 2020 Jul;146(1) Epub 2020 Jun 23 doi: 10.1542/peds.2019-3046. PMID: 32576595Free PMC Article
Adlof SM, Hogan TP
Lang Speech Hear Serv Sch 2018 Oct 24;49(4):762-773. doi: 10.1044/2018_LSHSS-DYSLC-18-0049. PMID: 30458538Free PMC Article
Hulme C, Snowling MJ
Curr Opin Pediatr 2016 Dec;28(6):731-735. doi: 10.1097/MOP.0000000000000411. PMID: 27496059Free PMC Article
Peterson RL, Pennington BF
Annu Rev Clin Psychol 2015;11:283-307. Epub 2015 Jan 14 doi: 10.1146/annurev-clinpsy-032814-112842. PMID: 25594880
Peterson RL, Pennington BF
Lancet 2012 May 26;379(9830):1997-2007. Epub 2012 Apr 17 doi: 10.1016/S0140-6736(12)60198-6. PMID: 22513218Free PMC Article

Diagnosis

Shaywitz SE, Shaywitz JE, Shaywitz BA
Curr Opin Psychiatry 2021 Mar 1;34(2):80-86. doi: 10.1097/YCO.0000000000000670. PMID: 33278155
Sanfilippo J, Ness M, Petscher Y, Rappaport L, Zuckerman B, Gaab N
Pediatrics 2020 Jul;146(1) Epub 2020 Jun 23 doi: 10.1542/peds.2019-3046. PMID: 32576595Free PMC Article
Adlof SM, Hogan TP
Lang Speech Hear Serv Sch 2018 Oct 24;49(4):762-773. doi: 10.1044/2018_LSHSS-DYSLC-18-0049. PMID: 30458538Free PMC Article
Hulme C, Snowling MJ
Curr Opin Pediatr 2016 Dec;28(6):731-735. doi: 10.1097/MOP.0000000000000411. PMID: 27496059Free PMC Article
Schulte-Körne G
Dtsch Arztebl Int 2010 Oct;107(41):718-26; quiz 27. Epub 2010 Oct 15 doi: 10.3238/arztebl.2010.0718. PMID: 21046003Free PMC Article

Therapy

Salehinejad MA, Ghanavati E, Glinski B, Hallajian AH, Azarkolah A
Brain Behav 2022 Sep;12(9):e2724. Epub 2022 Aug 8 doi: 10.1002/brb3.2724. PMID: 35938945Free PMC Article
Corballis MC
Laterality 2021 May;26(3):307-309. Epub 2020 Nov 20 doi: 10.1080/1357650X.2020.1849251. PMID: 33218287
Rucker JC, Phillips PH
J Neuroophthalmol 2018 Jun;38(2):230-236. doi: 10.1097/WNO.0000000000000480. PMID: 28059865
Flaugnacco E, Lopez L, Terribili C, Montico M, Zoia S, Schön D
PLoS One 2015;10(9):e0138715. Epub 2015 Sep 25 doi: 10.1371/journal.pone.0138715. PMID: 26407242Free PMC Article
Cogo-Moreira H, Andriolo RB, Yazigi L, Ploubidis GB, Brandão de Ávila CR, Mari JJ
Cochrane Database Syst Rev 2012 Aug 15;(8):CD009133. doi: 10.1002/14651858.CD009133.pub2. PMID: 22895983

Prognosis

Couvignou M, Kolinsky R
Neuropsychologia 2021 May 14;155:107811. Epub 2021 Feb 26 doi: 10.1016/j.neuropsychologia.2021.107811. PMID: 33647287
Wagner RK, Zirps FA, Edwards AA, Wood SG, Joyner RE, Becker BJ, Liu G, Beal B
J Learn Disabil 2020 Sep/Oct;53(5):354-365. Epub 2020 May 26 doi: 10.1177/0022219420920377. PMID: 32452713Free PMC Article
Cabbage KL, Farquharson K, Iuzzini-Seigel J, Zuk J, Hogan TP
Lang Speech Hear Serv Sch 2018 Oct 24;49(4):774-786. doi: 10.1044/2018_LSHSS-DYSLC-18-0008. PMID: 30458539
Hulme C, Snowling MJ
Curr Opin Pediatr 2016 Dec;28(6):731-735. doi: 10.1097/MOP.0000000000000411. PMID: 27496059Free PMC Article
Habib M, Giraud K
Handb Clin Neurol 2013;111:229-35. doi: 10.1016/B978-0-444-52891-9.00023-3. PMID: 23622168

Clinical prediction guides

Barkus E, de Leede-Smith S, Roodenrys S, Horsley L, Matrini S, Mison E
Psych J 2022 Apr;11(2):163-170. Epub 2021 Nov 7 doi: 10.1002/pchj.496. PMID: 34743416
Johnson M, Åsberg Johnels J, Östlund S, Cedergren K, Omanovic Z, Hjalmarsson K, Jakobsson K, Högstedt J, Billstedt E
J Psychiatr Res 2021 Oct;142:204-209. Epub 2021 Aug 2 doi: 10.1016/j.jpsychires.2021.07.055. PMID: 34375772
Couvignou M, Kolinsky R
Neuropsychologia 2021 May 14;155:107811. Epub 2021 Feb 26 doi: 10.1016/j.neuropsychologia.2021.107811. PMID: 33647287
Majeed NM, Hartanto A, Tan JJX
Dyslexia 2021 May;27(2):187-203. Epub 2021 Feb 14 doi: 10.1002/dys.1677. PMID: 33586314
Gustafson S, Samuelsson S
Scand J Psychol 1999 Jun;40(2):127-34. doi: 10.1111/1467-9450.00109. PMID: 10399495

Recent systematic reviews

Salehinejad MA, Ghanavati E, Glinski B, Hallajian AH, Azarkolah A
Brain Behav 2022 Sep;12(9):e2724. Epub 2022 Aug 8 doi: 10.1002/brb3.2724. PMID: 35938945Free PMC Article
Haberstroh S, Schulte-Körne G
Dtsch Arztebl Int 2019 Feb 15;116(7):107-114. doi: 10.3238/arztebl.2019.0107. PMID: 30905334Free PMC Article
Markiewcz R
Psychiatr Pol 2017 Dec 30;51(6):1095-1106. doi: 10.12740/PP/68919. PMID: 29432505
Grandjean P, Landrigan PJ
Lancet Neurol 2014 Mar;13(3):330-8. Epub 2014 Feb 17 doi: 10.1016/S1474-4422(13)70278-3. PMID: 24556010Free PMC Article
Cogo-Moreira H, Andriolo RB, Yazigi L, Ploubidis GB, Brandão de Ávila CR, Mari JJ
Cochrane Database Syst Rev 2012 Aug 15;(8):CD009133. doi: 10.1002/14651858.CD009133.pub2. PMID: 22895983

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