The interface between genetics and psychology: lessons from developmental dyslexia

Bishop, Dorothy V. M.

doi:10.1098/rspb.2014.3139

Cited by 72 publications

(77 citation statements)

References 49 publications

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“…The effect of all genetic variants associated with a phenotype can be combined in a polygenic score, but to date use of a polygenic score can account for only 2.5% of the variance in reading ability (de Zeeuw et al, 2014). There is evidence that genetic effects involve interactive as well as additive influences of many genes of small effect, meaning that genetic information would not be useful for predicting individual outcomes (Bishop, 2015). For heritable traits, at present parental abilities best index genetic liability.…”

Section: Discussionmentioning

confidence: 99%

How Does Parental Reading Influence Children’s Reading? A Study of Cognitive Mediation

Bergen

Bishop

Zuijen

et al. 2015

Scientific Studies of Reading

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Section: Discussionmentioning

confidence: 99%

How Does Parental Reading Influence Children’s Reading? A Study of Cognitive Mediation

Bergen

Bishop

Zuijen

et al. 2015

Scientific Studies of Reading

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“…For these 11 participants classified as positive for apraxia of speech, all were classified as mild or mild-moderate. As discussed by Shriberg et al (2016), such initial trends in the severity of expression of apraxia of speech using the PMI could prove informative for research on genomic and neural substrates of CAS that crosses conventional clinical classifications (Bishop, 1997(Bishop, , 2015.…”

Section: Pmi Findingsmentioning

confidence: 99%

A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: IV. The Pause Marker Index

Shriberg

Strand

Fourakis

et al. 2017

J Speech Lang Hear Res

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Purpose: Three previous articles provided rationale, methods, and several forms of validity support for a diagnostic marker of childhood apraxia of speech (CAS), termed the pause marker (PM). Goals of the present article were to assess the validity and stability of the PM Index (PMI) to scale CAS severity. Method: PM scores and speech, prosody, and voice precision-stability data were obtained for participants with CAS in idiopathic, neurogenetic, and complex neurodevelopmental disorders; adult-onset apraxia of speech consequent to stroke and primary progressive apraxia; and idiopathic speech delay. Three studies were completed including criterion and concurrent validity studies of the PMI and a temporal stability study of the PMI using retrospective case studies. Results: PM scores were significantly correlated with other signs of CAS precision and stability. The best fit of the distribution of PM scores to index CAS severity was obtained by dividing scores into 4 ordinal severity classifications: mild, mild-moderate, moderate-severe, and severe. Severity findings for the 4 classifications and retrospective longitudinal findings from 8 participants with CAS supported the validity and stability of the PMI. Conclusion: Findings support research and clinical use of the PMI to scale the severity of CAS.A four-article series (Shriberg et al., 2017a(Shriberg et al., , 2017b(Shriberg et al., , 2017c, and the present article) to develop and assess the theoretical and clinical utility of a singlesign, behavioral marker of childhood apraxia of speech (CAS) poses the following three questions: 1.Do findings from construct and criterion validity studies support the diagnostic accuracy of a behavioral marker, the pause marker (PM), to discriminate CAS from speech delay (SD)?2. Do findings from the PM and other measures support the hypothesis of core representational and transcoding deficits in CAS, and is the PM theoretically coherent with those deficits?3. Do findings from cross-sectional and retrospective longitudinal case studies support an ordinal scale of PM scores, the Pause Marker Index (PMI), to quantify the severity of CAS for research and clinical applications?The short-term goal of the PM is to provide a behavioral marker of CAS for research and clinical practice. A longer term goal of the PM is to provide quantitative inclusionary and exclusionary criteria to identify participants who are true positive for CAS in studies to identify and validate a biomarker of CAS. The present article addresses both goals. As proposed in the first article in this series (PM I; Shriberg et al., 2017a, Table 1), a highly valued attribute of diagnostic markers is generality, that is, a marker has research and clinical utility beyond identifying presence or absence of a disorder. In the present context, a behavioral marker of CAS has research and clinical generality when in addition to being diagnostically sensitive to and specific for a prior, active, and/or future disorder, it also quantifies the severity of the disorder. The three...

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“…With an approximate 60 % heritability rate, genetic analysis has identified nine candidate dyslexia susceptibility genes (CDSGs) on DYX loci ( (Bishop, 2015;Gabel, Gibson, Gruen, & LoTurco, 2010;Peterson & Pennington, 2015, for review). Of these CDSGs, DCDC2 has been identified as one of the leading susceptibility genes in dyslexia and dyslexia-related phenotypes (Eicher et al, 2014;.…”

mentioning

confidence: 99%

Translating dyslexia across species

et al. 2016

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Direct relationships between induced mutation in the DCDC2 candidate dyslexia susceptibility gene in mice and changes in behavioral measures of visual spatial learning have been reported. We were interested in determining whether performance on a visual-spatial learning and memory task could be translated across species (study 1) and whether children with reading impairment showed a similar impairment to animal models of the disorder (study 2). Study 1 included 37 participants who completed six trials of four different virtual Hebb-Williams maze configurations. A 2 × 4 × 6 mixed factorial repeated measures ANOVA indicated consistency in performance between humans and mice on these tasks, enabling us to translate across species. Study 2 included a total of 91 participants (age range = 8-13 years). Eighteen participants were identified with reading disorder by performance on the Woodcock-Johnson III Tests of Achievement. Participants completed six trials of five separate virtual Hebb-Williams maze configurations. A 2 × 5 × 6 mixed factorial ANCOVA (gender as covariate) indicated that individuals with reading impairment demonstrated impaired visuo-spatial performance on this task. Overall, results from this study suggest that we are able to translate behavioral deficits observed in genetic animal models of dyslexia to humans with reading impairment. Future studies will utilize the virtual environment to further explore the underlying basis for this impairment.

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The interface between genetics and psychology: lessons from developmental dyslexia

Cited by 72 publications

References 49 publications

How Does Parental Reading Influence Children’s Reading? A Study of Cognitive Mediation

How Does Parental Reading Influence Children’s Reading? A Study of Cognitive Mediation

A Diagnostic Marker to Discriminate Childhood Apraxia of Speech From Speech Delay: IV. The Pause Marker Index

Translating dyslexia across species

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