Common Misconceptions about the Phonological Deficit Theory of Dyslexia

In this discussion paper, I review a number of common misconceptions about the phonological deficit theory (PDH) of dyslexia. These include the common but mistaken idea that the PDH is simply about phonemic awareness (PA), and, consequently, is a circular “pseudo”-explanation or epiphenomenon of reading difficulties. I argue that PA is only the “tip of the phonological iceberg” and that “deeper” spoken-language phonological impairments among dyslexics appear well before the onset of reading and even at birth. Furthermore, not even reading-specific expressions of phonological deficits—PA or pseudoword naming, can be considered circular if we clearly distinguish between reading proper—real meaning-bearing words, or real text, and the mechanisms (subskills) of reading development (such as phonological recoding). I also explain why an understanding of what constitutes an efficient writing system explains why phonology is necessarily a major source of variability in reading ability and hence a core deficit (or at least one core deficit) among struggling readers whether dyslexic or non-dyslexic. I also address the misguided notion that the PDH has now fallen out of favor because most dyslexia researchers have (largely) ceased studying phonological processing. I emphasize that acceptance of the PDH does not imply repudiation of other non-phonological hypotheses because the PDH does not claim to account for all the variance in reading ability/disability. Finally, I ask where neurobiology enters the picture and suggest that researchers need to exercise more caution in drawing their conclusions.

Language impairment with a microduplication in 1q42.3q43

ABSTRACTDeletions and duplications of the distal region of the long arm of chromosome 1 are associated with brain abnormalities and developmental delay. Because duplications are less frequent than deletions, no detailed account of the cognitive profile of the affected people is available, particularly, regarding their language (dis)abilities. In this paper we report on the cognitive and language features of a girl with one of the smallest interstitial duplications ever described in this region, affecting to 1q42.3q43 (arr[hg19] 1q42.3q43(235,963,632-236,972,276)x3). Standardized tests as well as the analysis of her language use in natural settings suggest that the proband’s speech is severely impaired, exhibiting dysarthric-like features, with speech problems also resulting from a phonological deficit boiling down to a verbal auditory memory deficit. Lexical and grammatical knowledge are also impaired, impacting negatively on both expressive and receptive abilities, seemingly as a consequence of the phonological deficit. Still, her pragmatic abilities seem to be significantly spared, granting her a good command on the principles governing conversational exchanges. In silico analyses (literature mining, network analysis) and in vitro analyses (microarray) point to several genes as potential candidates for the observed deficits in the language domain. These include one gene within the duplicated region (LYST), one predicted functional partner (CMIP), and three genes outside the 1q42.3q43 region, which are all highly expressed in the cerebellum: DDIT4 and SLC29A1, found strongly downregulated in the proband compared to their healthy parents, and CNTNAP3, found strongly upregulated.

Selective enhancement of low-gamma activity by tACS improves phonemic processing and reading accuracy in dyslexia

The phonological deficit in dyslexia is associated with altered low-gamma oscillatory function in left auditory cortex, but a causal relationship between oscillatory function and phonemic processing has never been established. After confirming a deficit at 30 Hz with electroencephalography (EEG), we applied 20 minutes of transcranial alternating current stimulation (tACS) to transiently restore this activity in adults with dyslexia. The intervention significantly improved phonological processing and reading accuracy as measured immediately after tACS. The effect was selective to 30 Hz stimulation, and proportional to dyslexia severity. Importantly, we observed that the focal intervention on the left auditory cortex also decreased 30 Hz activity in the right superior temporal cortex, resulting in reinstating a left dominance for the oscillatory response, as present in controls. These findings formally establish a causal role of neural oscillations in phonological processing, and offer solid neurophysiological grounds for a potential correction of low-gamma anomalies, and for alleviating of the phonological deficit in dyslexia.

Do dyslexia and stuttering share a phonological deficit?

This study assessed the prevalence of childhood stuttering in people with dyslexia (PWD) and the prevalence of dyslexia in people who stutter (PWS). In addition, the linguistic profiles of 50 PWD, 30 PWS and 84 neurotypical adults were measured. We found that 17 out of 50 PWD (34%) reported stuttering during childhood compared to 1% of the controls. This was moderated by the severity of dyslexia: People with mild dyslexia showed a lower prevalence rate (15%) of childhood stuttering than those with severe dyslexia (47%). In addition, we observed that 50% of the PWS (n = 30) fulfilled the diagnostic criteria of dyslexia, even though they had never been diagnosed as dyslexic. Finally, PWD and PWS did not differ on any phonological measure. The findings suggest that stuttering and dyslexia may share a common phonological deficit.

3. What are the cognitive causes of dyslexia?

The defining feature of dyslexia—poor reading—is a behaviour that depends upon a range of cognitive abilities. A key challenge is to understand dyslexia’s cognitive or ‘proximal’ causes. Furthermore, a causal theory at the cognitive level of explanation provides the rationale for the design of interventions that can moderate dyslexia’s impact. ‘What are the cognitive causes of dyslexia?’ considers a number of different cognitive theories concerning the causes of dyslexia including the Verbal Deficit Hypothesis and the Phonological Deficit Hypothesis as well as theories proposing deficits in auditory, speech, or visual processing in dyslexia.

Effect of READ1 on latent profiles of reading disability and comorbid attention and language learning disability subtypes

Recent studies of co-occurring reading disability (RD) and attention deficit/hyperactivity disorder (ADHD), and co-occurring RD and language learning disability (LLD), support a core disability plus co-occurrence model focused on language and attention. Genetic factors have been associated with poor reading performance. However, little is known about whether different genetic variants independently contribute to RD co-occurrence subtypes. We aimed to identify subgroups of struggling readers using a latent profile analysis (LPA) in a sample of 1,432 Hispanic American and African American youth. RD classes were then tested for association with variants of READ1, a regulatory element within the candidate RD risk gene,DCDC2. Six groups were identified in the LPA using RD designation as a known-class variable. The three RD classes identified groups of subjects with neurocognitive profiles representing RD+ADHD, specific phonological deficit RD, and RD+LLD. Genetic associations across RD subtypes were investigated against functional groupings of READ1. The RU1-1 group of READ1 alleles was associated with RD cases that were marked by deficits in both processing speed and attention (RD + ADHD). TheDCDC2microdeletion that encompasses READ1 was associated with RD cases showing a phonological deficit RD profile. These findings provide evidence for differential genetic contribution to RD subtypes, and that previously implicated genetic variants for RD may share an underlying genetic architecture across population groups for reading disability.

Increased Response to Altered Auditory Feedback in Dyslexia: A Weaker Sensorimotor Magnet Implied in the Phonological Deficit

Purpose The purpose of this study was to examine whether developmental dyslexia (DD) is characterized by deficiencies in speech sensory and motor feedforward and feedback mechanisms, which are involved in the modulation of phonological representations. Method A total of 42 adult native speakers of Dutch (22 adults with DD; 20 participants who were typically reading controls) were asked to produce /bep/ while the first formant (F1) of the /e/ was not altered (baseline), increased (ramp), held at maximal perturbation (hold), and not altered again (after-effect). The F1 of the produced utterance was measured for each trial and used for statistical analyses. The measured F1s produced during each phase were entered in a linear mixed-effects model. Results Participants with DD adapted more strongly during the ramp phase and returned to baseline to a lesser extent when feedback was back to normal (after-effect phase) when compared with the typically reading group. In this study, a faster deviation from baseline during the ramp phase, a stronger adaptation response during the hold phase, and a slower return to baseline during the after-effect phase were associated with poorer reading and phonological abilities. Conclusion The data of the current study are consistent with the notion that the phonological deficit in DD is associated with a weaker sensorimotor magnet for phonological representations.