Percepción de la ansiedad y de las dificultades de aprendizaje según los criterios de la familia y de los profesores de niños con Trastorno por Déficit de Atención e Hiperactividad / Perception of anxiety and learning difficulties according to the criteria of the family and eachers of children with Attention Deficit Hyperactivity Disorder

Resumen Tanto el Trastorno por Déficit de Atención e Hiperactividad (TDAH) como la ansiedad son dos de los trastornos que más se evidencian en la población infanto-juvenil existiendo una correlación entre ambos tal y como se recoge en numerosos estudios. La combinación de ambos trastornos afecta a los procesos de enseñanza-aprendizaje del niño provocando dificultades de aprendizaje (DA) en el mismo. Los objetivos del presente trabajo se basaron en valorar los criterios que evidencian padres y profesores en niños con TDAH para caracterizar el grado de adecuación de la percepción y evaluar si esta se ajusta a la realidad o es insuficiente, si existen diferencias en dicha percepción entre padres y docentes; analizar la conciencia que tienen sobre las posibles DA que puedan presentar, para así aportar orientaciones adecuadas que permitan una favorable inter vención y evolución. La muestra se compone de 137 sujetos con edades comprendidas entre 9 y 15 años con un Coeficiente Intelectual Total (CIT) de entre 80 y 120. Los instrumentos que se utilizaron fueron: la escala de inteligencia de Wechsler para niños-V (WISC-V), el Cuestionario de Ansiedad Estado-Rasgo en Niños(STAI-C), el Sistema de Evaluación de Niños y Adolescentes(SENA) y el Inventario de Problemas en la Escuela (IPE). Como resultado se observa que la ansiedad percibida por estos niños no está relacionada con la que aprecian padres y profesores, sin embargo, estos últimos sí que coinciden en su apreciación.

Abstract Both Attention Deficit Hyperactivity Disorder (ADHD) and anxiety are two of the disorders that are most evident in the infant-juvenile population and there is a correlation between the two, as shown in numerous studies. The combination of both disorders affects the child's teaching-learning processes, causing learning difficulties (LD). The aims of the present study were based on assessing the criteria evidenced by parents and teachers in children with ADHD to characterize the degree of adequacy of perception and to evaluate whether this is in line with real ity or insufficient, whether there are differences in this perception between parents and teachers, and to analyze their awareness of the possible AD they may present, in order to provide appropriate guidelines for favourable intervention and evolution. The sample consisted of 137 subjects aged between 9 and 15 years with a Total IQ (TIQ) between 80 and 120. The instruments used were: the Wechsler Intelligence Scale for Children-V (WISC-V), the State-Trait Anxiety Questionnaire for Children (STAI-C), the Child and Adolescent Assessment System (SENA) and the Inventory of Problems at School (IPE). As a result, it is observed that the anxiety perceived by these children is not related to the anxiety perceived by parents and teachers, although the latter do coincide in their assessment.

[Perception of anxiety and learning difficulties according to the criteria of the family and teachers of children with Attention Deficit Hyperactivity Disorder]. / Percepción de la ansiedad y de las dificultades de aprendizaje según los criterios de la familia y de los profesores de niños con trastorno por déficit de atención e hiperactividad.

Both Attention Deficit Hyperactivity Disorder (ADHD) and anxiety are two of the disorders that are most evident in the infant-juvenile population and there is a correlation between the two, as shown in numerous studies. The combination of both disorders affects the child's teaching-learning processes, causing learning difficulties (LD). The aims of the present study were based on assessing the criteria evidenced by parents and teachers in children with ADHD to characterize the degree of adequacy of perception and to evaluate whether this is in line with reality or insufficient, whether there are differences in this perception between parents and teachers, and to analyze their awareness of the possible AD they may present, in order to provide appropriate guidelines for favourable intervention and evolution. The sample consisted of 137 subjects aged between 9 and 15 years with a Total IQ (TIQ) between 80 and 120. The instruments used were: the Wechsler Intelligence Scale for Children-V (WISCV), the State-Trait Anxiety Questionnaire for Children (STAI-C), the Child and Adolescent Assessment System (SENA) and the Inventory of Problems at School (IPE). As a result, it is observed that the anxiety perceived by these children is not related to the anxiety perceived by parents and teachers, although the latter do coincide in their assessment.

Tanto el Trastorno por Déficit de Atención e Hiperactividad (TDAH) como la ansiedad son dos de los trastornos que más se evidencian en la población infanto-juvenil existiendo una correlación entre ambos tal y como se recoge en numerosos estudios. La combinación de ambos trastornos afecta a los procesos de enseñanza-aprendizaje del niño provocando dificultades de aprendizaje (DA) en el mismo. Los objetivos del presente trabajo se basaron en valorar los criterios que evidencian padres y profesores en niños con TDAH para caracterizar el grado de adecuación de la percepción y evaluar si esta se ajusta a la realidad o es insuficiente, si existen diferencias en dicha percepción entre padres y docentes; analizar la conciencia que tienen sobre las posibles DA que puedan presentar, para así aportar orientaciones adecuadas que permitan una favorable intervención y evolución. La muestra se compone de 137 sujetos con edades comprendidas entre 9 y 15 años con un Coeficiente Intelectual Total (CIT) de entre 80 y 120. Los instrumentos que se utilizaron fueron: la escala de inteligencia de Wechsler para niños-V (WISC-V), el Cuestionario de Ansiedad Estado-Rasgo en Niños(STAI-C), el Sistema de Evaluación de Niños y Adolescentes(SENA) y el Inventario de Problemas en la Escuela (IPE). Como resultado se observa que la ansiedad percibida por estos niños no está relacionada con la que aprecian padres y profesores, sin embargo, estos últimos sí que coinciden en su apreciación.

Feedback-controlled laser ablation for cancer treatment: comparison of On-Off and PID control strategies.

Laser ablation is a rising technique used to induce a localized temperature increment for tumor ablation. The outcomes of the therapy depend on the tissue thermal history. Monitoring devices help to assess the tissue thermal response, and their combination with a control strategy can be used to promptly address unexpected temperature changes and thus reduce unwanted thermal effects. In this application, numerical simulations can drive the selection of the laser control settings (i.e., laser power and gain parameters) and allow evaluating the thermal effects of the control strategies. In this study, the influence of different control strategies (On-Off and PID-based controls) is quantified considering the treatment time and the thermal effect on the tissue. Finite element model-based simulations were implemented to model the laser-tissue interaction, the heat-transfer, and the consequent thermal damage in liver tissue with tumor. The laser power was modulated based on the temperature feedback provided within the tumor safety margin. Results show that the chosen control strategy does not have a major influence on the extent of thermal damage but on the treatment duration; the percentage of necrosis within the tumor domain is 100% with both strategies, while the treatment duration is 630 s and 786 s for On-Off and PID, respectively. The choice of the control strategy is a trade-off between treatment duration and unwanted temperature overshoot during closed-loop laser ablation. Clinical Relevance-This work establishes that different temperature-based control of the laser ablation procedure does not have a major influence on the extent of thermal damage but on the duration of treatment.

AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.

INTRODUCTION: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), previously known as hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) or pigmentary orthochromatic leukodystrophy (POLD), is the most frequent non-vascular adult-onset leukoencephalopathy. It is caused by autosomal dominant mutations in CSF1R gene. Recently, also autosomal recessive mutations in AARS2 gene were found to be the cause of an adult-onset leukodystrophy with axonal spheroids. Our aim was to achieve a genetic diagnosis in a cohort of CSF1R-negative patients, performing a sequence analysis of AARS2 gene. MATERIAL AND METHODS: AARS2 sequencing was performed in 38 CSF1R-negative patients with clinical and magnetic resonance imaging (MRI) findings of adult-onset leukoencephalopathy. RESULTS: Three patients carrying AARS2 compound heterozygous mutations have been found. All patients were female with ovarian failure and leukoencephalopathy. In 2 patients, MRI findings were consistent with previous reports while the third patient showed focal white matter (WM) lesions in the centrum semiovale and the corpus callosum in the absence of extensive involvement and rarefaction of the WM. MRI spectroscopy showed the presence of increased lactate in 2 patients, thus linking AARS2-related leukoencephalopathy with other mitochondrial leukoencephalopathies with high levels of cerebral lactate. CONCLUSION: We recommend screening for mutations in AARS2 gene in CSF1R-negative patients, also in the absence of a clear family history and peculiar MRI findings. Our results also suggest that findings of conventional MRI and MR spectroscopy may be useful in prompting the genetic screening.

A pilot study for development of a novel tool for clinical decision making to identify fallers among ophthalmic patients.

BACKGROUND: Falls in the elderly is a major problem. Although falls have a multifactorial etiology, a commonly cited cause of falls in older people is poor vision. This study proposes a method to discriminate fallers and non-fallers among ophthalmic patients, based on data-mining algorithms applied to health and socio-demographic information. METHODS: A group of 150 subjects aged 55 years and older, recruited at the Eye Clinic of the Second University of Naples, underwent a baseline ophthalmic examination and a standardized questionnaire, including lifestyles, general health, social engagement and eyesight problems. A subject who reported at least one fall within one year was considered as faller, otherwise as non-faller. Different tree-based data-mining algorithms (i.e., C4.5, Adaboost and Random Forest) were used to develop automatic classifiers and their performances were evaluated by assessing the receiver-operator characteristics curve estimated with the 10-fold-crossvalidation approach. RESULTS: The best predictive model, based on Random Forest, enabled to identify fallers with a sensitivity and specificity rate of 72.6% and 77.9%, respectively. The most informative variables were: intraocular pressure, best corrected visual acuity and the answers to the total difficulty score of the Activities of Daily Vision Scale (a questionnaire for the measurement of visual disability). CONCLUSIONS: The current study confirmed that some ophthalmic features (i.e. cataract surgery, lower intraocular pressure values) could be associated with a lower fall risk among visually impaired subjects. Finally, automatic analysis of a combination of visual function parameters (either self-evaluated either by ophthalmological tests) and other health information, by data-mining algorithms, could be a feasible tool for identifying fallers among ophthalmic patients.

Cloud-Based Smart Health Monitoring System for Automatic Cardiovascular and Fall Risk Assessment in Hypertensive Patients.

The aim of this paper is to describe the design and the preliminary validation of a platform developed to collect and automatically analyze biomedical signals for risk assessment of vascular events and falls in hypertensive patients. This m-health platform, based on cloud computing, was designed to be flexible, extensible, and transparent, and to provide proactive remote monitoring via data-mining functionalities. A retrospective study was conducted to train and test the platform. The developed system was able to predict a future vascular event within the next 12 months with an accuracy rate of 84 % and to identify fallers with an accuracy rate of 72 %. In an ongoing prospective trial, almost all the recruited patients accepted favorably the system with a limited rate of inadherences causing data losses (<20 %). The developed platform supported clinical decision by processing tele-monitored data and providing quick and accurate risk assessment of vascular events and falls.

Standard versus trans-epithelial collagen cross-linking in keratoconus patients suitable for standard collagen cross-linking.

PURPOSE: Evaluating the clinical results of trans-epithelial collagen cross-linking (CXL) and standard CXL in patients with progressive keratoconus. METHODS: This prospective study comprised 20 eyes of 20 patients with progressive keratoconus. Ten eyes were treated by standard CXL and ten by trans-epithelial cross-linking (TE-CXL, epithelium on) with 1 year of follow-up. All patients underwent complete ophthalmologic testing that included pre- and postoperative uncorrected visual acuity, corrected visual acuity, spherical error, spherical equivalent, corneal astigmatism, simulated maximum, minimum, and average keratometry, coma and spherical aberration, optical pachymetry, and endothelial cell density. Intra-and postoperative complications were recorded. The solution used for standard CXL comprised riboflavin 0.1% and dextran 20.0% (Ricrolin), while the solution for TE-CXL (Ricrolin, TE) comprised riboflavin 0.1%, dextran 15.0%, trometamol (Tris), and ethylenediaminetetraacetic acid. Ultraviolet-A treatment was performed with UV-X System at 3 mW/cm(2). RESULTS: In both the standard CXL group (ten patients, ten eyes; mean age, 30.4±7.3 years) and the TE-CXL group (ten patients, ten eyes; mean age, 28±3.8 years), uncorrected visual acuity and corrected visual acuity improved significantly after treatment. Furthermore, a significant improvement in topographic outcomes, spherical error, and spherical equivalent was observed in both groups at month 12 posttreatment. No significant variations were recorded in other parameters. No complications were noted. CONCLUSION: A 1-year follow-up showed stability of clinical and refractive outcomes after standard CXL and TE-CXL.

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS. We identified nine novel mutations in 11 patients (detection rate of 18.33%), including three missense mutations (p.R402Q; p.S558W; p.K748E), four truncating mutations (p.Y530X; p.R656X; c.806delC; c.1620delC), one in-frame deletion (c.2020_2022delGAG) and the first reported splice site mutation (c.1935+3A>C). A recurrent mutation (p.R656X) was detected in three independent families. We did not find any evidence for phenotype-genotype correlations between type and position of mutations and clinical features. In addition to the well-established phenotypic features of AAS, other clinical features are also reported and discussed.

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.

Somatic mutations of the phosphatase and tensin (PTEN) gene have been frequently detected in many types of human cancer. However, germline mutations can determine multiple hamartoma syndromes and, as more recently ascertained, syndromes clinically characterized by autism associated with macrocephaly. To determine whether germline mutations of PTEN may lead to different phenotypes, we screened all the nine exons of the PTEN gene in 40 patients with neurodevelopmental disorders, with or without features of autism spectrum disorder, associated with macrocephaly. Three novel de novo missense mutations were found (p.H118P, p.Y176C, p.N276S) in two severely mentally retarded patients with autism and in a subject with neurodevelopmental disorders without autistic features. Our results provide evidence that PTEN germline mutations may sustain a more wide phenotypical spectrum than previously suggested.

Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.

Aarskog-Scott syndrome (AAS) is a rare, clinically and genetically heterogeneous condition characterized by facial dysmorphic features, short stature, brachydactyly, and genital anomalies. The X-linked form is caused by mutations of the FGD1 gene. Although clinical manifestations and diagnostic criteria are well established, diagnosis is not simple, as the spectrum of phenotypical features may be extremely variable. Here, we report on the clinical and genetic characterization of a family in which molecular analyses revealed the inheritance of a novel truncating mutation of the FDG1 gene (c.945insC) in two affected brothers, with one of them displaying unusually severe craniofacial abnormalities. This previously unreported combination of anomalies might be due to the occurrence of two distinct disorders (AAS and hemifacial microsomia) or may represent an extension of the AAS phenotypic spectrum. Our findings highlight the phenotypic heterogeneity of AAS, supporting the opinion that the FGD1 mutations result in a broad spectrum of severity and, in some cases, may express a clinical appearance very different than typically described.

Cytokeratin profiles of male breast cancers.

AIMS: The prognostic factors and expression of molecular markers in male breast carcinomas are similar to those in female breast cancers. The identification of distinct cytokeratin (CK) profiles (basal as opposed to luminal cells) helps to identify subsets of tumours with different clinical behaviour. The aim of this study was to investigate CK expression in male breast cancer. METHODS AND RESULTS: Thirty-two cases of male breast cancer were studied. The panel of CKs studied by immunohistochemistry included: 5/6, 14, 17, 18 and 19. Pathological findings and CK expression were analysed in all cases. Histological patterns included ductal carcinoma in situ, invasive ductal carcinoma and mixed patterns. Four cases were positive for CK5/6 and CK14, identifying a basal-like phenotype. CK17 was negative in all but two cases. All cases expressing either CK5/6 or CK14 were invasive carcinomas of high nuclear and histological grade and were also larger compared with the tumours not expressing CK5/6 and CK14. All tumours except three (also negative for CK5/6) expressed CK18 and CK19. The four basal-like tumours were negative for Her-2 expression. CONCLUSIONS: Male breast carcinomas have a basal-like phenotype that is similar in frequency to that of female breast carcinomas. The expression of CK5/6 and CK14 identifies a subset of pathologically aggressive male breast cancers.

Retinochoroidal atrophy in two adult patients with Angelman syndrome.

We describe a new ocular finding, retinochoroidal atrophy (RCA), associated with optic disk paleness in two adult patients with Angelman syndrome (AS) due to maternal 15q11-13 deletion. The ocular involvement described in children with AS consists iris and choroids hypopigmentation due to loss of function of one copy of P gene involved in maternal deletion. The loss of one copy of the same gene of paternal origin leads to a similar ocular phenotype as in Prader-Willi syndrome (PWS). However to our knowledge, RCA has never been described before in PWS, suggesting that other maternally expressed genes, particularly UBE3A, could be responsible for the retinal changes observed in the adult AS phenotype. Although, further investigations would be necessary to better understand the role of the UBE3A in the retina, the findings reported here should prompt a systematic ophthalmologic evaluation adult patients with AS in order to establish the real incidence of RCA and prevent further disability in these patients.

Septo-optic dysplasia with digital anomalies associated with maternal multidrug abuse during pregnancy.

We describe a 16-year-old female affected by septo-optic dysplasia (SOD) with digital anomalies as additional feature. This rare developmental anomaly of midline brain structures can result from different pathogenetical events, including mutations of the homeo box gene HESX1, recently suggested as the etiological cause at least in a subset of patients. The absence of mutational involvement of this gene in our patient led us to consider, in alternative terms of pathogenesis, the maternal multidrug abuse occurring during pregnancy. Our report, in accord with previous experimental evidences, points out that illicit drug use might have played a causative role in brain development anomalies, thus our patient could represent an additional case of birth defects caused by a prenatal toxic exposure. The neurologic abnormalities and the clinical history of the patient are extensively reviewed. The need to include the SOD phenotype amongst the possible teratogenic effects of multidrug abuse is evidenced.

Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.

Mutations in the ryanodine receptor type 1 (RYR1) gene are associated with Malignant Hyperthermia (MH) and Central Core Disease (CCD). We report here on the molecular analysis of the RYR1 gene in Italian families referred as potential cases of MH or in patients with CCD or multicore/minicore myopathy. Of a total of 20 individuals with mutations in the RYR1 gene, 14 were part of a group of 47 MH susceptible (MHS) patients, 4 of 34 individuals diagnosed as MH equivocal (MHE), and 2 were patients diagnosed with minicore myopathy and CCD, respectively. Mutations were found to segregate with the MHS or MHE phenotype within the families of the probands. A discordance between phenotype and genotype was observed in a family where a mutation detected in an MHS proband was also found in the father who had been diagnosed MH normal (MHN) at the IVCT. In addition to known mutations, seven novel mutations were found, five of which occurred in exons encoding the C-terminal region of RYR1. These results indicate that the C-terminal region of RYR1 represents an additional hot spot for mutations in patients with MH, similar to what has been reported for patients with CCD.