Ejercicios motores orofaciales no verbales: uso y conocimiento de los fonoaudiólogos que trabajan con personas con trastornos de los sonidos del habla / Nonspeech oral motor exercises: use and knowledge of speech-language pathologists working with people with speech sound disorders

Estudios realizados en diferentes países (por ejemplo, Australia, Canadá, India, República de Irlanda, EE.UU., Reino Unido) han demostrado que los fonoaudiólogos utilizan ejercicios motores orofaciales no verbales (EMONV) para tratar los trastornos de los sonidos del habla (TSH), atrayendo atención hacia el sustancial debate que existe respecto a la eficacia clínica de estos ejercicios. En este contexto, el presente estudio tuvo como objetivo investigar y caracterizar el uso de los EMONV por parte de fonoaudiólogos portugueses que realizan intervenciones en TSH y evaluar el conocimiento que lo respalda. Para ello, se invitó a profesionales de la fonoaudiología que trabajan con niños con TSH a completar un cuestionario basado en Thomas y Kaipa (2015). Un total de 184 participantes respondió a la encuesta; 93,5% informó contar con conocimientos sobre los EMONV, 78.5% utiliza EMONV para el tratamiento de TSH y 80,2% los considera efectivos en el tratamiento del TSH (89% indicó que adquirió su conocimiento sobre EMONV a través de cursos de pregrado y posgrado; 98,5% informó que utiliza los EMONV para mejorar las funciones motoras de los órganos fonoarticulatorios). Este estudio ofrece una descripción general del uso de los EMONV por parte de fonoaudiólogos portugueses en la intervención en niños con TSH. Muchos de los participantes en este estudio informaron que utilizan EMONV en el tratamiento de TSH, independientemente de la falta de evidencia para respaldar su uso en este contexto. Estos hallazgos demuestran que el porcentaje de fonoaudiólogos en Portugal que utilizan EMONV es similar al encontrado en los EE.UU., Reino Unido, Canadá e India, pero diferente del porcentaje en Australia e Irlanda.

Previous studies, conducted in different countries (e.g. Australia, Canada, India, Republic of Ireland, USA, UK), have shown that speech-language pathologists (SLPs) use nonspeech oral motor exercises (NSOMEs) to treat speech sound disorders (SSDs), bringing attention to the substantial debate regarding the clinical effectiveness of NSOMEs. The aim of the present study was to investigate and characterize the use of NSOMEs by Portuguese SLPs in the intervention of SSDs, and to analyze the evidence that supports it. To do so, SLPs who provide therapy to children with SSDs were invited to complete an online questionnaire, based on a previous survey conducted in India by Thomas and Kaipa (2015). A total of 184 participants responded to the survey; 93.5% reported knowing about NSOMEs, 78.5% used NSOMEs in their intervention for SSDs, and 80.2% considered them effective in treating SSDs (89% indicated that their knowledge about NSOMEs was acquired through graduate and post-graduate courses; 98.5% reported that theyused NSOMEs to improve the motor function of the articulators). This study offers an overview of Portuguese speech-language pathologists' reported use of NSOMEs as part of the intervention of speech sound disorders in children. Many of the participants in this study reported that they did use NSOMEs in SSD treatments, regardless of the lack of evidence to support their use in this context. Furthermore, the results show that the percentage of SLPs in Portugal using NSOMEs is similar to those found in the USA, UK, Canada, and India, but different from those in Australia and Ireland.

Percepciones, conocimiento y rutina de los padres acerca de los métodos de introducción de alimentos y su relación con el habla / Perceptions, knowledge, and routines of parents regarding food introduction methods and their relationship with speech

Este estudio analizó las rutinas y los hábitos de alimentación de niños portugueses de entre 4 y 18 meses, los métodos de introducción de alimentos más utilizados y las percepciones de los padres acerca de la importancia de la introducción de alimentos en el desarrollo del habla, Se aplicó un cuestionario online a una muestra de 297 padres. El cuestionario mostró una alta fiabilidad (α = 0.86). La mayoría de las madres portuguesas respondió que amamantan a sus hijos o que lo hacen en combinación con mamadera. Además, que les presentan nuevos alimentos a sus hijos en forma de sopas o purés y que varían los sabores, texturas y consistencias con frecuencia. Aunque hubo resultados razonables con respecto al conocimiento sobre los métodos tradicionales y Baby Led Weaning (BLW), en esta muestra se observó una mayor frecuencia de uso del método tradicional en comparación con BLW. Por otro lado, no hubo una correlación significativa entre la edad de los padres y su percepción sobre la importancia de la alimentación para el habla. Sin embargo, los padres con estudios superiores mostraron una mayor percepción sobre la importancia de la alimentación en el habla. Los padres con un mayor número de hijos mostraron una menor consciencia sobre la importancia de la relación entre la alimentación y el habla.

This study analyzedthe eating routines and habits of Portuguese children aged 4 to 18 months, the methods of food introduction most frequently used, and the parents' perceptions regarding the importance of food introduction for speech development. A sample of 297 parents filled out an online self-report questionnaire about their perceptions, knowledge, and routines regarding food introduction methods, and their relationship with speech development. This questionnaire showed high reliability (α=0.86). The majority of the Portuguese mothers that filled out the survey answered either that they breastfed their children or breastfed them in combination with bottle feeding. They also stated that they introduce new food to their children in the form of soups or purees and that they vary the flavors, textures, and consistencies frequently. Although the results showed a reasonable level of knowledge regarding the traditional and Baby Led Weaning (BLW) methods, there was a higher frequency of use of the traditional method in this samplewhen compared to BLW. There was not a significant correlation between the age of the parents and their perception of the importance of feeding for speech. In turn, parents with a higher level of education showed a greater awareness of the relevance of feeding in the development of speech. Parents with a higher number of children showed less awareness of the relationship between feeding and speech development.

Mineral Content of Various Portuguese Breads: Characterization, Dietary Intake, and Discriminant Analysis.

The chemical composition and daily mineral intake (DMI) of six macro (calcium, magnesium, sodium, potassium, phosphorous, and chloride) and four microminerals (copper, iron, manganese, and zinc) were determined in four types of Portuguese breads (white wheat, maize, wheat/maize, and maize/rye breads). Samples were processed with microwave assisted digestion and mineral composition was determined with a high-resolution continuum-source atomic absorption spectrometer with flame and graphite furnace. Bread contributes to an equilibrated diet since it is rich in several minerals (0.21 mg/100 g of copper in wheat bread to 537 mg/100 g of sodium in maize/rye bread). Maize/rye bread presented the highest content of all minerals (except phosphorous and chloride), while the lowest levels were mainly found in wheat bread. Median sodium concentrations (422-537 mg/100 g) represented more than 28% of the recommended daily allowance, being in close range of the maximum Portuguese limit (550 mg/100 g). Maize/rye bread exhibited the highest DMI of manganese (181%), sodium (36%), magnesium (32%), copper (32%), zinc (24%), iron (22%), potassium (20%), and calcium (3.0%). A Principal Component Analysis (PCA) model based on the mineral content allowed the differentiation among white wheat, maize, and maize/rye bread. Zinc, magnesium, manganese, iron, phosphorus, potassium, copper, and calcium proved to be good chemical markers to differentiate bread compositions.

Predicting phenotypes of asthma and eczema with machine learning.

BACKGROUND: There is increasing recognition that asthma and eczema are heterogeneous diseases. We investigated the predictive ability of a spectrum of machine learning methods to disambiguate clinical sub-groups of asthma, wheeze and eczema, using a large heterogeneous set of attributes in an unselected population. The aim was to identify to what extent such heterogeneous information can be combined to reveal specific clinical manifestations. METHODS: The study population comprised a cross-sectional sample of adults, and included representatives of the general population enriched by subjects with asthma. Linear and non-linear machine learning methods, from logistic regression to random forests, were fit on a large attribute set including demographic, clinical and laboratory features, genetic profiles and environmental exposures. Outcome of interest were asthma, wheeze and eczema encoded by different operational definitions. Model validation was performed via bootstrapping. RESULTS: The study population included 554 adults, 42% male, 38% previous or current smokers. Proportion of asthma, wheeze, and eczema diagnoses was 16.7%, 12.3%, and 21.7%, respectively. Models were fit on 223 non-genetic variables plus 215 single nucleotide polymorphisms. In general, non-linear models achieved higher sensitivity and specificity than other methods, especially for asthma and wheeze, less for eczema, with areas under receiver operating characteristic curve of 84%, 76% and 64%, respectively. Our findings confirm that allergen sensitisation and lung function characterise asthma better in combination than separately. The predictive ability of genetic markers alone is limited. For eczema, new predictors such as bio-impedance were discovered. CONCLUSIONS: More usefully-complex modelling is the key to a better understanding of disease mechanisms and personalised healthcare: further advances are likely with the incorporation of more factors/attributes and longitudinal measures.

17q12-21 and asthma: interactions with early-life environmental exposures.

BACKGROUND: 17q12-21 polymorphisms are associated with asthma presence and severity across different populations. OBJECTIVE: To extensively investigate the genes in this region among Croatian schoolchildren in a case-control study, taking account of early-life environmental exposures. METHODS: We included 423 children with asthma and 414 controls aged 5 to 18 years. Fifty-one haplotype tagging single-nucleotide polymorphisms (SNPs) were genotyped (GSDMA, GSDMB, ORMDL3, IKZF3, ZPBP2, and TOP2). Data on exposure to smoking and furry pet ownership were collected using a validated questionnaire. Information on severe asthma exacerbations with hospital admission were retrieved from hospital notes. All patients underwent spirometry. RESULTS: We found 2 SNPs (1 novel rs9635726 in IKZF3) to be associated with asthma. Among children with asthma, 4 SNPs (in ZPBP2, GSDMB, and GSDMA) were associated with hospital admissions and 8 SNPs with lung function. One SNP (rs9635726) remained significantly associated with a predicted forced expiratory volume in 1 second after false discovery rate correction. Nine markers across 5 genes showed interaction with early-life environmental tobacco smoke (ETS) exposure in relation to asthma and 2 with furry pet ownership. Among children with asthma, we observed significant interactions between early-life ETS exposure and 3 SNPs for lung function and among early-life ETS exposure, 3 SNPs (in ORMDL3 and GSDMA), and hospital admission with asthma exacerbation. Three SNPs (in ORMDL3) interacted with current furry pet ownership in relation to hospital admissions for asthma exacerbation. CONCLUSION: Our results indicate that several genes in the 17q12-21 region may be associated with asthma. This study confirms that environmental exposures may need to be included into the genetic association studies.

Asthma severity, polymorphisms in 20p13 and their interaction with tobacco smoke exposure.

BACKGROUND: We investigated the association between genetic variation in chromosomal region 20p13-p12 (ADAM33 and flanking genes ATRN, GFRA4, SIGLEC1 and HSPA12B) and asthma. Amongst asthmatics, we then investigated the association between genetic variants and asthma severity. We evaluated the effect of environmental tobacco smoke (ETS) exposure in the context of genetic variants. METHODS: In a case-control study, we recruited 423 asthmatic children and 414 non-asthmatic controls (age 5-18 yr). Amongst asthmatics, we measured lung function and extracted data on hospitalisation for asthma exacerbation from medical records. Early-life ETS exposure was assessed by questionnaire. We included 85 single-nucleotide polymorphisms (SNPs) in the analysis. RESULTS: Seventeen SNPs were significantly associated with asthma; one (rs41534847 in ADAM33) remained significant after correction for multiple testing. Thirty-six SNPs were significantly associated with lung function, of which 15 (six ARTN, three ADAM33, five SIGLEC1 and one HSPA12B) remained significant after correction. We observed a significant interaction between 23 SNPs and early-life ETS exposure in relation to lung function measures. For example, for rs512625 in ADAM33, there was significant interaction with ETS exposure in relation to hospitalisations (p(int)  = 0.02) and lung function (p(int)  = 0.03); G-allele homozygotes had a 9.15-fold [95% CI 2.28-36.89] higher risk of being hospitalized and had significantly poorer lung function if exposed to ETS, with no effect of ETS exposure amongst A-allele carriers. CONCLUSION: We demonstrated several novel significant interactions between polymorphisms in 20p13-p12 and early-life ETS exposure with asthma presence and, amongst asthmatics, a significant association with the severity of their disease.

Gene-environment interactions in the development of asthma and atopy.

Asthma is a complex multifactorial disorder involving a variety of different mechanisms. Little has changed in asthma treatment over the past five decades. There is evidence for a strong genetic component of asthma, but genetic studies have produced heterogeneous results with little replication, with most of the heritability remaining unexplained. The rapid increase in asthma prevalence over a short time period suggests that environmental exposures play an important role, but there is a considerable heterogeneity in the results describing the effect of different environmental exposures. There are many reasons for the lack of replication in genetic association studies and those of environmental exposures. These include the failure to consider that asthma may arise as a consequence of environmental factors, modulating the risk in genetically susceptible individuals via gene-environment interactions. In addition, many studies rely on oversimplified phenotypes often derived through aggregation of several heterogeneous conditions (e.g., 'physician-diagnosed asthma').

17q12-21 variants are associated with asthma and interact with active smoking in an adult population from the United Kingdom.

BACKGROUND: Although an association between 17q12-21 and asthma has been replicated across different populations, some inconsistencies have been found between different studies. OBJECTIVE: We investigated the association between genetic variation in this region with asthma, lung function, airway inflammation, hyperresponsiveness (AHR), and atopy in a case-control study of United Kingdom adults. The interaction between genotype and smoking was also evaluated. METHODS: Study subjects (n = 983) were carefully phenotyped using questionnaires, measurement of lung function, AHR (methacholine challenge), exhaled nitric oxide (eNO), and assessment of atopic status. Blood/saliva/buccal swabs were collected, and 47 single nucleotide polymorphisms (SNPs) in 17q12-21 were genotyped using MALDI-TOF (Matrix-assisted LASER desorption/ionisation-time of flight) mass spectrometry. We conducted a comprehensive investigation of 28 common SNPs within 6 genes of interest (IKZF3, ZPBP2, ORMDL3, GSDMA, GSDMB, TOP2A). RESULTS: Sixteen SNPs were significantly associated with asthma after multiple testing correction (P ≤ .01), of which 5 (rs2290400, rs8079416, rs3894194, rs7212938, and rs3859192) were strongly associated (FDR P ≤ .0002), and one was novel (IKZF3-rs1453559). For 3 of these SNPs, we found significant interaction with smoking and asthma (rs12936231, rs2290400, and rs8079416). Smoking modified the associations between 8 SNPs and lung function (rs9911688, rs9900538, rs1054609, rs8076131, rs3902025, rs3859192, rs11540720, and rs11650680). We observed significant interaction between 5 SNPs and smoking on AHR, and 3 interacted with smoking in relation to asthma with AHR (rs4795404, rs4795408, rs3859192). CONCLUSION: We found 1 novel association and replicated several previously reported associations between 17q12-21 polymorphisms and asthma. We demonstrated significant interactions between active smoking and polymorphisms in 17q12-21 with asthma, lung function, and AHR in adults. Our data confirm that 17q12-21 is an important asthma susceptibility locus.

Genetic variation in vascular endothelial growth factor-a and lung function.

RATIONALE: Given the role of vascular endothelial growth factor (VEGF) in lung development, we hypothesized that polymorphisms in VEGF-A may be associated with lung function. OBJECTIVES: The current study was designed to assess the role of genetic variants in VEGF-A as determinants of airway function from infancy through early adulthood. METHODS: Association between five single-nucleotide polymorphisms (SNPs) in VEGF-A and lung function were assessed longitudinally in two unselected birth cohorts and cross-sectionally among infants. Replication with two SNPs was conducted in adults and children with asthma. We investigated the functionality of the SNP most consistently associated with lung function (rs3025028) using Western blotting to measure the ratio of plasma VEGF-A(165b)/panVEGF-A(165) among homozygotes. MEASUREMENTS AND MAIN RESULTS: In two populations in infancy, C-allele homozygotes of rs3025028 had significantly higher VmaxFRC, forced expiratory flow(50), and forced expiratory flow(25-75) compared with other genotype groups. Among preschool children (age 3 yr), C allele of rs3025028 was associated with significantly higher specific airway conductance, with similar findings observed for lung function in school-age children. For FEV(1)/FVC ratio similar findings were observed among adolescents and young adults (birth cohort), and then replicated in adults and schoolchildren with asthma (cross-sectional studies). For rs3025038, plasma VEGF-A(165b)/panVEGF-A(165) was significantly higher among CC versus GG homozygotes (P ≤ 0.02) at birth, in school-age children, and in adults. CONCLUSIONS: We report significant associations between VEGF-A SNP rs3025028 and parameters of airway function measured throughout childhood, with the effect persisting into adulthood. We propose that the mechanism may be mediated through the ratios of active and inhibitory isoforms of VEGF-A(165), which may be determined by alternative splicing.

Quantification of atopy, lung function and airway hypersensitivity in adults.

BACKGROUND: Studies in children have shown that concentration of specific serum IgE (sIgE) and size of skin tests to inhalant allergens better predict wheezing and reduced lung function than the information on presence or absence of atopy. However, very few studies in adults have investigated the relationship of quantitative atopy with lung function and airway hyperresponsiveness (AHR). OBJECTIVE: To determine the association between lung function and AHR and quantitative atopy in a large sample of adults from the UK. METHODS: FEV1 and FVC (% predicted) were measured using spirometry and airway responsiveness by methacholine challenge (5-breath dosimeter protocol) in 983 subjects (random sample of 800 parents of children enrolled in a population-based birth cohort enriched with 183 patients with physician-diagnosed asthma). Atopic status was assessed by skin prick tests (SPT) and measurement of sIgE (common inhalant allergens). We also measured indoor allergen exposure in subjects' homes. RESULTS: Spirometry was completed by 792 subjects and 626 underwent methacholine challenge, with 100 (16.0%) having AHR (dose-response slope>25). Using sIgE as a continuous variable in a multiple linear regression analysis, we found that increasing levels of sIgE to mite, cat and dog were significantly associated with lower FEV1 (mite p = 0.001, cat p = 0.0001, dog p = 2.95 × 10-8). Similar findings were observed when using the size of wheal on skin testing as a continuous variable, with significantly poorer lung function with increasing skin test size (mite p = 8.23 × 10-8, cat p = 3.93 × 10-10, dog p = 3.03 × 10-15, grass p = 2.95 × 10-9). The association between quantitative atopy with lung function and AHR remained unchanged when we repeated the analyses amongst subjects defined as sensitised using standard definitions (sIgE>0.35 kUa/l, SPT-3 mm>negative control). CONCLUSIONS: In the studied population, lung function decreased and AHR increased with increasing sIgE levels or SPT wheal diameter to inhalant allergens, suggesting that atopy may not be a dichotomous outcome influencing lung function and AHR.

Allergen avoidance in the secondary and tertiary prevention of allergic diseases: does it work?

Although allergen avoidance is widely recommended as part of a secondary and tertiary prevention strategy for allergic diseases, a clear-cut demonstration of its effectiveness is still lacking. Ongoing observational secondary prevention cohorts show that sensitisation to mite can be prevented in the short term by allergen avoidance measures, but further follow-up of these children is needed to show if this effect can be sustained, as well as to ascertain its impact on allergic disease. More well-designed trials are still required before we can give any conclusive advice to our patients. Considering the management of allergy, current evidence suggests that interventions in children (either single or multifaceted) may be associated with some beneficial effect on asthma control, but no conclusive evidence exists regarding rhinitis or eczema. Conversely, there is little evidence to support the recommendation of allergen avoidance methods in adults with asthma and rhinitis. There is a need for an adequately designed trial assessing the effects of a multifaceted intervention in this age group.