Insights into Dyslexia Genetics Research from the Last Two Decades

Erbeli, Florina; Rice, Marianne; Paracchini, Silvia

doi:10.3390/brainsci12010027

Cited by 61 publications

(41 citation statements)

References 73 publications

(102 reference statements)

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“…Developmental Dyslexia (DD) is a condition in which reading accuracy and/or fluency falls substantially below what is expected based on the individuals age, general level of cognitive ability, and educational opportunities (Lyon et al, 2003 ). The condition is highly heritable (Erbeli et al, 2021 ), and commonly co‐occurs with challenges in other domains, such as attention (DuPaul et al, 2013 ), executive functions (Farah et al, 2021 ), processing speed (McGrath et al, 2011 ), and language development (Snowling et al, 2021 ; Torppa et al, 2010 ).…”

Section: Introductionmentioning

confidence: 99%

Neural correlates of sequence learning in children with developmental dyslexia

Hedenius

Persson

2022

Human Brain Mapping

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Developmental Dyslexia (DD) is a condition in which reading accuracy and/or fluency falls substantially below what is expected based on the individuals age, general level of cognitive ability, and educational opportunities. The procedural circuit deficit hypothesis (PDH) proposes that DD may be largely explained in terms of alterations of the cortico‐basal ganglia procedural memory system (in particular of the striatum) whereas the (hippocampus‐dependent) declarative memory system is intact, and may serve a compensatory role in the condition. The present study was designed to test this hypothesis. Using Magnetic Resonance Imaging, we examined the functional and structural brain correlates of sequence‐specific procedural learning (SL) on the serial reaction time task, in 17 children with DD and 18 typically developing (TD) children. The study was performed over 2 days with a 24‐h interval between sessions. In line with the PDH, the DD group showed less activation of the striatum during the processing of sequential statistical regularities. These alterations predicted the amount of SL at day 2, which in turn explained variance in children's reading fluency. Additionally, reduced hippocampal activation predicted larger SL gains between day 1 and day 2 in the TD group, but not in the DD group. At the structural level, caudate nucleus volume predicted the amount of acquired SL at day 2 in the TD group, but not in the DD group. The findings encourage further research into factors that promote learning in children with DD, including through compensatory mechanisms.

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Section: Introductionmentioning

confidence: 99%

Neural correlates of sequence learning in children with developmental dyslexia

Hedenius

Persson

2022

Human Brain Mapping

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“…Second, writing is a very recent technology, and the need to read and write is unlikely to have exerted any significant evolutionary selection pressure. Finally, DD has been shown to be strongly polygenic in nature (Erbeli et al, 2021b). In combination with DD's prevalence and heritability, these factors support the notion that, rather than representing a disorder, DD-associated cognitive differences were selected for and confer some kind of fitness advantage.…”

Section: Discussionmentioning

confidence: 74%

“…While most assessors consider a range of factors, assessments still vary between assessors and differences also exist between languages (Erbeli et al, 2021b). It is also important to note converging evidence from both twin studies and molecular genetic studies which indicate that reading ability lies on a continuum, with the cut-off point being arbitrary (Erbeli et al, 2021b). Taken together these factors may contribute to variation in reported forms of dyslexia and prevalence rates.…”

Section: Previous Approaches To Developmental Dyslexiamentioning

confidence: 99%

Developmental Dyslexia: Disorder or Specialization in Exploration?

Taylor

Vestergaard

2022

Front. Psychol.

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We raise the new possibility that people diagnosed with developmental dyslexia (DD) are specialized in explorative cognitive search, and rather than having a neurocognitive disorder, play an essential role in human adaptation. Most DD research has studied educational difficulties, with theories framing differences in neurocognitive processes as deficits. However, people with DD are also often proposed to have certain strengths – particularly in realms like discovery, invention, and creativity – that deficit-centered theories cannot explain. We investigate whether these strengths reflect an underlying explorative specialization. We re-examine experimental studies in psychology and neuroscience using the framework of cognitive search, whereby many psychological processes involve a trade-off between exploration and exploitation. We report evidence of an explorative bias in DD-associated cognitive strategies. High DD prevalence and an attendant explorative bias across multiple areas of cognition suggest the existence of explorative specialization. An evolutionary perspective explains the combination of findings and challenges the view that individuals with DD have a disorder. In cooperating groups, individual specialization is favored when features that confer fitness benefits are functionally incompatible. Evidence for search specialization suggests that, as with some other social organisms, humans mediate the exploration–exploitation trade-off by specializing in complementary strategies. The existence of a system of collective cognitive search that emerges through collaboration would help to explain our species’ exceptional adaptiveness. It also aligns with evidence for substantial variability during our evolutionary history and the notion that humans are adapted not to a particular habitat but to variability itself. Specialization creates interdependence and necessitates balancing complementary strategies. Reframing DD therefore underscores the urgency of changing certain cultural practices to ensure we do not inhibit adaptation. Key improvements would remove cultural barriers to exploration and nurture explorative learning in education, academia, and the workplace, as well as emphasize collaboration over competition. Specialization in complementary search abilities represents a meta-adaptation; through collaboration, this likely enables human groups (as a species and as cultural systems) to successfully adapt. Cultural change to support this system of collaborative search may therefore be essential in confronting the challenges humanity now faces.

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“…To date, the relationship between language (LI/RI) and ASD has shown to be complex [ 11 , 58 ], with this study further showing indications of the polygenic nature of that relationship. ADHD is well known to be genetically related to RI, but again, when applied to families selected for ASD, the relationship is complex and requires further studies [ 60 ].…”

Section: Discussionmentioning

confidence: 99%

MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders

Wong

Zhou

Cao

et al. 2022

Genes

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Autism spectrum disorder (ASD) is a childhood neurodevelopmental disorder with a complex and heterogeneous genetic etiology. MicroRNA (miRNA), a class of small non-coding RNAs, could regulate ASD risk genes post-transcriptionally and affect broad molecular pathways related to ASD and associated disorders. Using whole-genome sequencing, we analyzed 272 samples in 73 families in the New Jersey Language and Autism Genetics Study (NJLAGS) cohort. Families with at least one ASD patient were recruited and were further assessed for language impairment, reading impairment, and other associated phenotypes. A total of 5104 miRNA variants and 1,181,148 3′ untranslated region (3′ UTR) variants were identified in the dataset. After applying several filtering criteria, including population allele frequency, brain expression, miRNA functional regions, and inheritance patterns, we identified high-confidence variants in five brain-expressed miRNAs (targeting 326 genes) and 3′ UTR miRNA target regions of 152 genes. Some genes, such as SCP2 and UCGC, were identified in multiple families. Using Gene Ontology overrepresentation analysis and protein–protein interaction network analysis, we identified clusters of genes and pathways that are important for neurodevelopment. The miRNAs and miRNA target genes identified in this study are potentially involved in neurodevelopmental disorders and should be considered for further functional studies.

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Insights into Dyslexia Genetics Research from the Last Two Decades

Cited by 61 publications

References 73 publications

Neural correlates of sequence learning in children with developmental dyslexia

Neural correlates of sequence learning in children with developmental dyslexia

Developmental Dyslexia: Disorder or Specialization in Exploration?

MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders

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