In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting .

Background: Heterozygous disruptions of were the first identified molecular cause for severe speech disorder: childhood apraxia of speech (CAS), and yet few cases have been reported, limiting knowledge of the condition.

Methods: Here we phenotyped 28 individuals from 17 families with pathogenic -only variants (12 loss-of-function, five missense variants; 14 males; aged 2 to 62 years). Health and development (cognitive, motor, social domains) were examined, including speech and language outcomes with the first cross-linguistic analysis of English and German.

The neural correlates of agrammatism: Evidence from aphasic and healthy speakers performing an overt picture description task.

Functional brain imaging studies have improved our knowledge of the neural localization of language functions and the functional reorganization after a lesion. However, the neural correlates of agrammatic symptoms in aphasia remain largely unknown. The present fMRI study examined the neural correlates of morpho-syntactic encoding and agrammatic errors in continuous language production by combining three approaches.

Computer-assisted analysis of spontaneous speech: quantification of basic parameters in aphasic and unimpaired language.

Although generally accepted as an important part of aphasia assessment, detailed analysis of spontaneous speech is rarely carried out in clinical practice mostly due to time limitations. The Aachener Sprachanalyse (ASPA; Aachen Speech Analysis) is a computer-assisted method for the quantitative analysis of German spontaneous speech that allows for a detailed assessment by means of linguistic basic parameters in an acceptable amount of time. It has previously been proven sensitive for monitoring changes over time.

From a concept to a word in a syntactically complete sentence: an fMRI study on spontaneous language production in an overt picture description task.

Spontaneous language has rarely been subjected to neuroimaging studies. This study therefore introduces a newly developed method for the analysis of linguistic phenomena observed in continuous language production during fMRI. Most neuroimaging studies investigating language have so far focussed on single word or - to a smaller extent - sentence processing, mostly due to methodological considerations.

Taboo: a novel paradigm to elicit aphasia-like trouble-indicating behaviour in normally speaking individuals.

Two important research lines in neuro- and psycholinguistics are studying natural or experimentally induced slips of the tongue and investigating the symptom patterns of aphasic individuals. Only few studies have focused on explaining aphasic symptoms by provoking aphasic symptoms in healthy speakers. While all experimental techniques have so far dealt with the single word or the sentence level, the current study intended to provoke aphasia-like trouble-indicating behaviour (i.

Word frequency effects in the left IFG in dyslexic and normally reading children during picture naming and reading.

Word frequency effects have been reported in numerous neuroimaging studies with typically reading adults, emphasising the role of the left inferior frontal gyrus (LIFG). Within LIFG, different cytoarchitectonic modules (areas 44 and 45) have been related to phonological vs. lexico-semantic processing, respectively.

Interaction of phonological awareness and 'magnocellular' processing during normal and dyslexic reading: behavioural and fMRI investigations.

We investigated whether phonological deficits are a consequence of magnocellular processing deficits in dyslexic and control children. In Experiment 1, children were tested for reading ability, phonological awareness, visuo-magnocellular motion perception, and attention shifting (sometimes considered as magnocellular function). A two-step cluster analysis of the behavioural scores revealed four clusters of children.

Cognitive levels of performance account for hemispheric lateralisation effects in dyslexic and normally reading children.

Recent theories of developmental dyslexia explain reading deficits in terms of deficient phonological awareness, attention, visual and auditory processing, or automaticity. Since dyslexia has a neurobiological basis, the question arises how the reader's proficiency in these cognitive variables affects the brain regions involved in visual word recognition. This question was addressed in two fMRI experiments with 19 normally reading children (Experiment 1) and 19 children with dyslexia (Experiment 2).