Reading decoding and comprehension in children with autism spectrum disorders: Evidence from a language with regular orthography

Decoding and comprehension skills in children with autism spectrum disorders (ASD) were analysed in children native speakers of a language (Italian) with a highly regular orthography. Children with ASD were compared to children with matched intellectual functioning: a subgroup of children with ASD and borderline intellectual functioning (BIF) was compared to a subgroup of children with BIF but no signs of ASD; a subgroup of children with ASD and cognitive functioning within normal limits was compared to a group of typically developing children. Children with ASD (whether with or without BIF) showed essentially spared decoding skills in text as well as word and pseudo-word reading; this was at variance with children with BIF who, as a group, showed overall deficient decoding skills, despite considerable individual differences. By contrast, children with ASD (once again, irrespective of the presence of BIF) showed a selective impairment in reading comprehension, just like children with BIF but unlike the typically developing ones. Therefore, results are generally consistent with a profile of hyperlexia for children with ASD learning a regular orthography, as previously reported for other languages. Notably, this pattern was present irrespective of the degree of cognitive impairment, and clearly distinguished these children from those with borderline intellectual functioning but not signs of autism

Spelling deficits in children with intellectual disabilities: Evidence from a regular orthography

IntroductionIn individuals with intellectual disabilities (ID), efficient reading and writing skills promote social integration, self-autonomy, and independence. However, research has mainly focused on reading skills, while evidence on spelling skills is scarce and mostly on English-speaking subjects. In the present research project, we compared the spelling skills of children with intellectual disabilities (ID) learning in Italian, a regular orthography, to those of typically developing children matched for school level.MethodsIn the first study, the performance on a Passage Dictation Test of forty-four children with ID attending regular classrooms from 4th to 8th grades (mean age = 12.16 years; SD = 1.57) were compared with controls matched for sex and grade. In the second study, a Words and Nonwords Dictation Test was administered (with stimuli varying for lexicality, orthographic complexity, regularity of transcription, and the presence of different types of phonetic-phonological difficulties) to twenty-two children with ID attending regular classrooms from 4th to 8th grades (mean age = 12.2 years; SD = 1.37) and 22 controls matched for sex and grade. In both studies, an error analysis was performed to characterize types of misspellings. Separate ANOVAs were performed on z scores.ResultsChildren with ID generally had a lower performance than controls. In the Passage Dictation Test, they showed a higher number of phonological (and phonetic-phonological) errors than phonologically plausible ones, indicating, as a group, predominant phonological difficulties as compared to lexical-orthographic ones. In the Words and Nonwords Dictation Test, they performed poorly on regular stimuli presenting specific types of phonetic-to-phonological difficulties (geminates, non-continuant consonants) and committed more minimal distance, context-sensitive and simple conversion misspellings. However, deficits in the orthographic-lexical procedure, as indicated by a low performance in words with unpredictable spelling, were present in a high percentage of children.DiscussionIt is concluded that children with ID have significant spelling difficulties not confined to the orthographic process but also in phoneme-to-grapheme mapping that, in a regular orthography like Italian, should be acquired early and easily

Hypo- and Hyper-Virulent Listeria monocytogenes Clones Persisting in Two Different Food Processing Plants of Central Italy

A total of 66 Listeria monocytogenes (Lm) isolated from 2013 to 2018 in a small-scale meat processing plant and a dairy facility of Central Italy were studied. Whole Genome Sequencing and bioinformatics analysis were used to assess the genetic relationships between the strains and investigate persistence and virulence abilities. The biofilm forming-ability was assessed in vitro. Cluster analysis grouped the Lm from the meat plant into three main clusters: two of them, both belonging to CC9, persisted for years in the plant and one (CC121) was isolated in the last year of sampling. In the dairy facility, all the strains grouped in a CC2 four-year persistent cluster. All the studied strains carried multidrug efflux-pumps genetic determinants (sugE, mdrl, lde, norM, mepA). CC121 also harbored the Tn6188 specific for tolerance to Benzalkonium Chloride. Only CC9 and CC121 carried a Stress Survival Islet and presented high-level cadmium resistance genes (cadA1C1) carried by different plasmids. They showed a greater biofilm production when compared with CC2. All the CC2 carried a full-length inlA while CC9 and CC121 presented a Premature Stop Codon mutation correlated with less virulence. The hypo-virulent clones CC9 and CC121 appeared the most adapted to food-processing environments; however, even the hyper-virulent clone CC2 warningly persisted for a long time. The identification of the main mechanisms promoting Lm persistence in a specific food processing plant is important to provide recommendations to Food Business Operators (FBOs) in order to remove or reduce resident Lm

How future surgery will benefit from SARS-COV-2-related measures: a SPIGC survey conveying the perspective of Italian surgeons

COVID-19 negatively affected surgical activity, but the potential benefits resulting from adopted measures remain unclear. The aim of this study was to evaluate the change in surgical activity and potential benefit from COVID-19 measures in perspective of Italian surgeons on behalf of SPIGC. A nationwide online survey on surgical practice before, during, and after COVID-19 pandemic was conducted in March-April 2022 (NCT:05323851). Effects of COVID-19 hospital-related measures on surgical patients' management and personal professional development across surgical specialties were explored. Data on demographics, pre-operative/peri-operative/post-operative management, and professional development were collected. Outcomes were matched with the corresponding volume. Four hundred and seventy-three respondents were included in final analysis across 14 surgical specialties. Since SARS-CoV-2 pandemic, application of telematic consultations (4.1% vs. 21.6%; p < 0.0001) and diagnostic evaluations (16.4% vs. 42.2%; p < 0.0001) increased. Elective surgical activities significantly reduced and surgeons opted more frequently for conservative management with a possible indication for elective (26.3% vs. 35.7%; p < 0.0001) or urgent (20.4% vs. 38.5%; p < 0.0001) surgery. All new COVID-related measures are perceived to be maintained in the future. Surgeons' personal education online increased from 12.6% (pre-COVID) to 86.6% (post-COVID; p < 0.0001). Online educational activities are considered a beneficial effect from COVID pandemic (56.4%). COVID-19 had a great impact on surgical specialties, with significant reduction of operation volume. However, some forced changes turned out to be benefits. Isolation measures pushed the use of telemedicine and telemetric devices for outpatient practice and favored communication for educational purposes and surgeon-patient/family communication. From the Italian surgeons' perspective, COVID-related measures will continue to influence future surgical clinical practice

Reading Deficits in Intellectual Disability Are still an Open Question: A Narrative Review

Background. In children with intellectual disability (ID), the acquisition of reading skills constitutes a basic step towards the possibility of independent living, social inclusion and participation. Methods. We carried out a narrative review of the literature on reading fluency and accuracy of individuals with ID resulting from different genetic syndromes (Fragile X, Williams, Velocardiofacial, Prader-Willi, and Down syndrome). Our aim was to define their reading profiles in light of the dual-route reading model. For this purpose, studies that examined both word and non-word reading in children with ID were included in the analysis. Results. Seventeen studies emerged based on the selection criteria. The results were different depending on the control group used. A deficit in reading non-words emerged in studies that used the reading-level match design but not when standardized scores were used, when controls were age-matched or when a mental age matching was used. Thus, a deficit in reading non-words emerged only in studies that used the reading-level match design. However, severe methodological criticisms were recently raised about the use of this matching design. Conclusions. In view of the methodological problems in using grade equivalents, it is premature to draw definite conclusions about the reading profile of children with ID resulting from different genetic syndromes. In any case, the reviewed evidence provides little support for the idea that children with ID have selective difficulty in phonological reading. Thus, the reading profile of children with ID remains an open question that needs to be investigated by means of methodologically sound research

Laparo-endoscopic “Rendezvous” to treat cholecysto-choledocolithiasis: Effective, safe and simplifies the endoscopist’s work

AIM: To investigate our clinical experience with combined laparo-endoscopic Rendezvous (RV) for the treatment of patients affected by gallstones and common bile duct (CBD) stones and especially to study the never evaluated opinion of the endoscopist concerning the difficulty of the intraoperative endoscopic procedure during the RV in comparison with standard endoscopic retrograde cholangio-pancreatography (ERCP)

Dyslexia and Attention Deficit Hyperactivity Disorder Associated to a De Novo 1p34.3 Microdeletion

The authors report on a boy with dyslexia and attention deficit hyperactivity disorder. A protocol of standardized tests assessed the neuroadaptive profile, allowing deep neuropsychiatric phenotyping. In addition to the diagnosis of dyslexia and attention deficit hyperactivity disorder, such methodology led to endeavor cognitive, adaptive, and academic skills. Chromosomal microarray analysis detected a 452.4 Kb de novo heterozygous microdeletion in chromosomal region 1p34.3, including seven OMIM genes. The authors took a thorough evaluation of the association to the phenotype of the deleted genes. Further reports could strengthen such association

The Mitochondrial tRNA^Ser(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review

Mitochondrial tRNASer(UCN) is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy. We describe a novel homoplasmic m.7484A>G mutation in the tRNASer(UCN) gene affecting the third base of the anticodon triplet in a girl with profound intellectual disability, spastic tetraplegia, sensorineural hearing loss, a clinical history of epilepsia partialis continua and vomiting, typical of MELAS syndrome, leading to a myoclonic epilepticus status, and myopathy with severe COX deficiency at muscle biopsy. The mutation was also found in the homoplasmic condition in the mother who presented with mild cognitive deficit, cerebellar ataxia, myoclonic epilepsy, sensorineural hearing loss and myopathy with COX deficient ragged-red fibers consistent with MERRF syndrome. This is the first anticodon mutation in the tRNASer(UCN) and the second homoplasmic mutation in the anticodon triplet reported to date

Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families

Background and Objectives: Specific Learning Disorder (SLD) is a complex neurobiological disorder characterized by a persistent difficult in reading (dyslexia), written expression (dysgraphia), and mathematics (dyscalculia). The hereditary and genetic component is one of the underlying causes of SLD, but the relationship between genes and the environment should be considered. Several genetic studies were performed in different populations to identify causative genes. Materials and Methods: Here, we show the analysis of 9 multiplex families with at least 2 individuals diagnosed with SLD per family, with a total of 37 persons, 21 of whom are young subjects with SLD, by means of Next-Generation Sequencing (NGS) to identify possible causative mutations in a panel of 15 candidate genes: CCPG1, CYP19A1, DCDC2, DGKI, DIP2A, DYM, GCFC2, KIAA0319, MC5R, MRPL19, NEDD4L, PCNT, PRMT2, ROBO1, and S100B. Results: We detected, in eight families out nine, SNP variants in the DGKI, DIP2A, KIAA0319, and PCNT genes, even if in silico analysis did not show any causative effect on this behavioral condition. In all cases, the mutation was transmitted by one of the two parents, thus excluding the case of de novo mutation. Moreover, the parent carrying the allelic variant transmitted to the children, in six out of seven families, reports language difficulties. Conclusions: Although the present results cannot be considered conclusive due to the limited sample size, the identification of genetic variants in the above genes can provide input for further research on the same, as well as on other genes/mutations, to better understand the genetic basis of this disorder, and from this perspective, to better understand also the neuropsychological and social aspects connected to this disorder, which affects an increasing number of young people

A Real-Time PCR Screening Assay for Rapid Detection of Listeria Monocytogenes Outbreak Strains

From January 2015 to March 2016, an outbreak of 23 human cases of listeriosis in the Marche region and one human case in the Umbria region of Italy was caused by Listeria monocytogenes strains showing a new pulsotype never described before in Italy. A total of 37 clinical strains isolated from patients exhibiting listeriosis symptoms and 1374 strains correlated to the outbreak were received by the Italian National Reference Laboratory for L. monocytogenes (It NRL Lm) of Istituto Zooprofilattico Sperimentale dell’Abruzzo e del Molise (IZSAM) for outbreak investigation. A real-time PCR assay was purposely designed for a rapid screening of the strains related to the outbreak. PCR-positive strains were successively typed through molecular serogrouping, pulsed field gel electrophoresis (PFGE), and Next Generation Sequencing (NGS). Applying the described strategy, based on real-time PCR screening, we were able to considerably reduce time and costs during the outbreak investigation activities