Vowel variability and contrast in Childhood Apraxia of Speech: acoustics and articulation

none5noPhoneme production may be affected by limited speech motor control in Childhood Apraxia of Speech (CAS), with a general instability of acoustic targets across multiple repetitions of speech stimuli. This acoustic and Ultrasound Tongue Imaging (UTI) study shows that increased variability and reduction of contrast in vowel production is found in native Italian speakers with CAS, particularly as far as the height dimension is concerned. The data suggest that vowel production should play a major role in CAS diagnosis and treatment. Moreover, this study shows that a combined acoustic and articulatory approach allows direct observation of lingual dynamics together with an estimation of changes in the acoustic dimension. The two dimensions are shown not to correspond in a straightforward way in the speech of children with CAS, and encourage consideration of articulatory compensation strategies aimed at saving the acoustic identity of vowels.openLenoci, Giovanna; Celata, Chiara; Ricci, Irene; Chilosi, Anna; Barone, VincenzoLenoci, Giovanna; Celata, Chiara; Ricci, Irene; Chilosi, Anna; Barone, Vincenz

Evidence for a Pathogenic Role of CSMD1 in Childhood Apraxia of Speech

Childhood apraxia of speech (CAS) is a pediatric motor speech disorder. The genetic etiology of this complex neurological condition is not yet well understood, although some genes have been linked to it.We describe the case of a boy with a severe and persistent motor speech disorder, consistent with CAS, and a coexisting language impairment.Whole exome sequencing in our case revealed a de novo and splicing mutation in the CSMD1 gene

Sex/Gender Differences in the Language Profiles of Italian Children with Autism Spectrum Disorder: A Retrospective Study

Sex/gender (S/G) differences in ASD language profiles have been poorly investigated. The present study aims to explore whether male (M) and female (F) children with ASD and with normal non-verbal cognitive abilities differ in their linguistic profiles. A sample of 76 Italian children with ASD (range: 4.9-8 years), including 50 Ms and 26 Fs, was retrospectively recruited. Language profiles were analyzed using standardized tests for the evaluation of receptive and expressive vocabulary as well as grammar. Grammatical comprehension was the most impaired domain compared to the other language measures in both M and F children. Comparing language profiles between S/G, Fs showed significantly better scores than Ms in grammatical production (p = 0.002), and Ms showed better active negative sentence comprehension (p = 0.035). Moreover, comparing the language profiles between Ms and Fs with a receptive disorder, Fs had significantly worse grammatical comprehension and better grammatical production than Ms. Even among children without a receptive disorder, Fs had significantly higher grammatical production scores. The S/G differences in language profile, particularly better expressive language in Fs than Ms, can partially contribute to the delayed ASD diagnosis or underdiagnosis of Fs without intellectual disability. Finally, the results document the importance of accurately investigating both expressive and receptive abilities in children with ASD

Phospho-proteomic analysis of mantle cell lymphoma cells suggests a pro-survival role of B-cell receptor signaling

BACKGROUND: Mantle cell lymphoma (MCL) is currently an incurable entity, and new therapeutic approaches are needed. We have applied a high-throughput phospho-proteomic technique to MCL cell lines to identify activated pathways and we have then validated our data in both cell lines and tumor tissues. METHODS: PhosphoScan analysis was performed on MCL cell lines. Results were validated by flow cytometry and western blotting. Functional validation was performed by blocking the most active pathway in MCL cell lines. RESULTS: PhosphoScan identified more than 300 tyrosine-phosporylated proteins, among which many protein kinases. The most abundant peptides belonged to proteins connected with B-cell receptor (BCR) signaling. Active BCR signaling was demonstrated by flow cytometry in MCL cells and by western blotting in MCL tumor tissues. Blocking BCR signaling by Syk inhibitor piceatannol induced dose/time-dependent apoptosis in MCL cell lines, as well as several modifications in the phosphorylation status of BCR pathway members and a collapse of cyclin D1 protein levels. CONCLUSION: Our data support a pro-survival role of BCR signaling in MCL and suggest that this pathway might be a candidate for therapy. Our findings also suggest that Syk activation patterns might be different in MCL compared to other lymphoma subtypes

Age influence on mice lung tissue response to <i>Aspergillus fumigatus</i> chronic exposure

[b]Introduction and objective[/b]. Exposure to conidia of [i]Aspergillus fumigatus[/i] was described as a causative factor of a number of the respiratory system diseases, including asthma, chronic eosinophilic pneumonia, hypersensitivity pneumonitis and bronchopulmonary aspergillosis. The study investigates the effects of the repeated exposure to [i]A. fumigatus[/i] in mice pulmonary compartment. Our work tackles two, so far insufficiently addressed, important aspects of interaction between affected organism and[i] A. fumigatus[/i]: 1) recurrent character of exposure (characteristic for pathomechanism of the abovementioned disease states) and 2) impact of aging, potentially important for the differentiation response to an antigen. [b]Materials and methods[/b]. In order to dissect alterations of the immune system involved with both aging and chronic exposure to [i]A. fumigatus[/i], we used 3- and 18-month-old C57BL/6J mice exposed to repeated[i] A. fumigatus[/i] inhalations for 7 and 28 days. Changes in lung tissue were monitored by histological and biochemical evaluation. Concentration of pro- and anti-inflammatory cytokines in lung homogenates was assessed by ELISA tests. [b]Results and conclusions. [/b]Our study demonstrated that chronic inflammation in pulmonary compartment, characterized by the significant increase of proinflammatory cytokines (IL1, IL6, IL10) levels, was the dominant feature of mice response to repeated [i]A. fumigatus[/i] inhalations. The pattern of cytokines' profile in the course of exposure was similar in both age groups, however in old mice the growth of the cytokines' levels was more pronounced (especially in case of IL1)

True 3q Chromosomal Amplification in Squamous Cell Lung Carcinoma by FISH and aCGH Molecular Analysis: Impact on Targeted Drugs

Peer reviewe

Spelling impairments in Italian dyslexic children with and without a history of early language delay. Are there any differences?

Language delay is considered a frequent antecedent of literacy problems and both may be linked to phonological impairment. However, while several studies have examined the relationship between language delay and reading impairment, relatively few have focused on spelling.In this study, spelling performance of 28 children with developmental dyslexia (DD), 14 children with a history of language delay (LD) and 14 children without (NoLD) and 28 control participants were examined.Spelling was investigated by writing a dictation task that included orthographically regular stimuli (word and nonwords), as well as words with unpredictable transcription.Results indicated that all dyslexic participants underperformed compared to controls on both regular and unpredictable transcription stimuli, but LD performance was generally the worst. Moreover, spelling impairment assumed different characteristics in LD and NoLD children. LD children were more sensitive to acoustic-to-phonological variables, showing relevant failure especially on stimuli containing geminate consonants but also on polysyllabic stimuli and those containing non-continuant consonants. Error analysis confirmed these results, with LD children producing a higher rate of phonological errors respect to NoLD children and controls. Results were coherent with the hypothesis that among dyslexic children, those with previous language delay have more severe spelling deficit, suffering from defective orthographic lexical acquisition together with long-lasting phonological difficulties

Audio-visual temporal perception in children with restored hearing

It is not clear how audio-visual temporal perception develops in children with restored hearing. In this study we measured temporal discrimination thresholds with an audio-visual temporal bisection task in 9 deaf children with restored audition, and 22 typically hearing children. In typically hearing children, audition was more precise than vision, with no gain in multisensory conditions (as previously reported in Gori et al. (2012b)). However, deaf children with restored audition showed similar thresholds for audio and visual thresholds and some evidence of gain in audio-visual temporal multisensory conditions. Interestingly, we found a strong correlation between auditory weighting of multisensory signals and quality of language: patients who gave more weight to audition had better language skills. Similarly, auditory thresholds for the temporal bisection task were also a good predictor of language skills. This result supports the idea that the temporal auditory processing is associated with language development