Características craneofaciales de pacientes obesos en Chile. Estudio Preliminar / Craniofacial characteristics of obese patients in Chile. Preliminary study

Resumen Introducción: La obesidad es un problema a nivel global que enfrenta el siglo XXI y Chile no se escapa de esta realidad. Así como existen características mórbidas de pacientes con obesidad, también existen características craneofaciales similares en estos pacientes. El estado nutricional es un factor que influencia el desarrollo de una persona en general, lo que tiene implicancias en el tratamiento ortodóncico, ortopédico y quirúrgico de las alteraciones maxilo - mandibulares de los pacientes. Objetivo: Investigar si la morfología craneofacial difiere entre los adolescentes obesos y los de peso normal. Métodos: Estudio retrospectivo, se basó en la comparación de medidas craneofaciales obtenidas del análisis cefalométrico, utilizando teleradiografías laterales, de dos grupos: grupo estudio (IMC mayor a 30, obeso) y grupo control (IMC normal). Resultados: Se observaron dimensiones maxilares y mandibulares mayores en el grupo estudio comparado con los pacientes del grupo control. Las medidas para la dimensión maxilar tuvieron diferencia significativamente estadística. Conclusiones: El aumento de peso es un factor importante que puede afectar los patrones de crecimiento craneofacial y debe ser tomado en consideración durante la planificación del tratamiento ortodoncico en pacientes adolescentes.

Abstract Introduction: Obesity is a global problem in the the 21st century and Chile does not escape this reality. Just as there are morbid characteristics of patients with obesity, there also share similar craniofacial characteristics. Nutritional status is a factor that influences the a person´s general development , which has implications in the orthodontic, orthopedic and surgical treatments of maxillo-mandibular alterations. Objective: Investigate whether craniofacial morphology differs between obese and average-weight adolescents. Methods: A retrospective study based on the comparison of craniofacial measures obtained from the cephalometric analysis, using lateral cephalograms, from two groups: study group (BMI over 30, obese) and control group (normal BMI). Greater maxillary and mandibular dimensions were observed in the study group compared to the patients in the control group. The measurements for de maxillary dimension had a statistically significant difference. Conclusions: Weight gain is an important factor that can affect craniofacial growth patterns and should be taken into consideration during the planning of orthodontic treatment in adolescent patients.

Two-dimensional and three-dimensional assessment of the upper airway / Evaluación bidimensional y tridimensional de la vía aérea superior

The aim of this study was to validate and correlate the two-dimensional (2D) with the three-dimensional (3D) measures of the upper airway assessment. Lateral cephalograms and cone beam CT of 100 adult subjects were used to perform a 2D and 3D assessment of the upper airway. Spearman correlation coefficient was used to determine whether there was correlation between variables. Additionally, specificity, sensitivity, negative predictive value and positive predictive value was calculated for the 2D assessment of the upper airway. Correlation between all two and three dimensional variables was found. In the nasopharynx and oropharynx, a weak correlation (r <0.51) was found; in the oropharynx a moderate one (0.50

El objetivo de este estudio fue validar y correlacionar las medidas bidimensionales (2D) con las medidas tridimensionales (3D) de la evaluación de las vías aéreas superiores. Se realizaron cefalogramas laterales y cone beam CT en 100 sujetos adultos para realizar una evaluación 2D y 3D de la vía aérea superior. Se utilizó el coeficiente de correlación de Spearman para determinar si había correlación entre las variables. Además, para la evaluación 2D de la vía aérea superior, se calculó la especificidad, sensibilidad, valor predictivo negativo y valor predictivo positivo. Se encontró correlación en todas las variables entre dos y tres dimensiones. En la nasofaringe y la orofaringe, se encontró una correlación débil (r <0,51) mientras que en la orofaringe moderada (0,50

Características craneofaciales de pacientes obesos en Chile. Estudio Preliminar

Introducción: La obesidad es un problema a nivel global que enfrenta el siglo XXI y Chile no se escapa de esta realidad. Así como existen características mórbidas de pacientes con obesidad, también existen características craneofaciales similares en estos pacientes. El estado nutricional es un factor que influencia el desarrollo de una persona en general, lo que tiene implicancias en el tratamiento ortodóncico, ortopédico y quirúrgico de las alteraciones maxilo - mandibulares de los pacientes. Objetivo: Investigar si la morfología craneofacial difiere entre los adolescentes obesos y los de peso normal. Métodos: Estudio retrospectivo, se basó en la comparación de medidas craneofaciales obtenidas del análisis cefalométrico, utilizando teleradiografías laterales, de dos grupos: grupo estudio (IMC mayor a 30, obeso) y grupo control (IMC normal). Resultados: Se observaron dimensiones maxilares y mandibulares mayores en el grupo estudio comparado con los pacientes del grupo control. Las medidas para la dimensión maxilar tuvieron diferencia significativamente estadística. Conclusiones: El aumento de peso es un factor importante que puede afectar los patrones de crecimiento craneofacial y debe ser tomado en consideración durante la planificación del tratamiento ortodoncico en pacientes adolescentes.

Introduction: Obesity is a global problem in the the 21st century and Chile does not escape this reality. Just as there are morbid characteristics of patients with obesity, there also share similar craniofacial characteristics. Nutritional status is a factor that influences the a person´s general development , which has implications in the orthodontic, orthopedic and surgical treatments of maxillo-mandibular alterations. Objective: Investigate whether craniofacial morphology differs between obese and average-weight adolescents. Methods: A retrospective study based on the comparison of craniofacial measures obtained from the cephalometric analysis, using lateral cephalograms, from two groups: study group (BMI over 30, obese) and control group (normal BMI). Greater maxillary and mandibular dimensions were observed in the study group compared to the patients in the control group. The measurements for de maxillary dimension had a statistically significant difference. Conclusions: Weight gain is an important factor that can affect craniofacial growth patterns and should be taken into consideration during the planning of orthodontic treatment in adolescent patients.

Dental morphological markers as a proxy for ethnicity in Robinson Crusoe Islanders / Marcadores morfológicos dentarios en la estimación de la etnicidad poblacional de la Isla Robinson Crusoe

Chilean Robinson Crusoe Island is a semi-isolated location with unusually high rates of both consanguinity and language disorder. The current population of 633 inhabitants is descended almost exclusively from the colonization at the end of the 19th century, as there were few preceding immigrations to the island. This study investigates the genetic composition and degree of miscegenation within the island population, using dental morphological markers. The universe of island children was studied (n= 128, 3 to 15 years of age) using clinical exams, dental cast, and identification of each individual within a previously-constructed extensive genealogy for the island. The frequencies for Carabelli's cusp (61.7%), shovel-shaped incisor (9.4%), and sixth cusp (2.3%), along with the absence of seventh cusp, are consistent with a primarily Caucasian population. The estimated degree of miscegenation suggests an Amerindian component of 4.3%, which is consistent with the extensive known genealogies of the founders. Characterizing the genetic profile of Robinson Crusoe Island, a location with a remarkably high prevalence of language disorder, facilitates the comparison of the genetic variants underlying this pathology with those identified in European populations.

La isla chilena Robinson Crusoe es un semiaislado geográfico de alta consanguinidad. Su población actual de 633 habitantes proviene de la última colonización ocurrida a finales del siglo XIX y pocas migraciones posteriores, en quienes recientemente se ha descrito una alta incidencia de trastorno de lenguaje. Este estudio estimó el componente genético y grado de miscegenación de la población isleña usando marcadores morfológicos dentarios. Se estudió al universo de niños isleños (n= 128, 3 a 15 años de edad) con exámenes clínicos, modelos dentales y ubicación de cada individuo en genealogías extensas confeccionadas previamente. La frecuencia de Tubérculo de Carabelli fue 61,7%, Diente en Pala 9,4%, tubérculo sexto 2,3% y ausencia del rasgo tubérculo séptimo, lo que concuerda con una población eminentemente caucásica. El grado de miscegenación estima que el componente amerindio de esta población es de 4,3%, que también se evidencia al analizar las genealogías extensas originadas por los colonizadores. La descripción del perfil genético de esta población, donde se han reportado altas prevalencias de trastorno de lenguaje, permitirá comparar con las variantes genéticas subyacentes a esta patología descritas para poblaciones europeas.

Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment.

Children affected by Specific Language Impairment (SLI) fail to acquire age appropriate language skills despite adequate intelligence and opportunity. SLI is highly heritable, but the understanding of underlying genetic mechanisms has proved challenging. In this study, we use molecular genetic techniques to investigate an admixed isolated founder population from the Robinson Crusoe Island (Chile), who are affected by a high incidence of SLI, increasing the power to discover contributory genetic factors. We utilize exome sequencing in selected individuals from this population to identify eight coding variants that are of putative significance. We then apply association analyses across the wider population to highlight a single rare coding variant (rs144169475, Minor Allele Frequency of 4.1% in admixed South American populations) in the NFXL1 gene that confers a nonsynonymous change (N150K) and is significantly associated with language impairment in the Robinson Crusoe population (p = 2.04 × 10-4, 8 variants tested). Subsequent sequencing of NFXL1 in 117 UK SLI cases identified four individuals with heterozygous variants predicted to be of functional consequence. We conclude that coding variants within NFXL1 confer an increased risk of SLI within a complex genetic model.

Desplazamiento de los puntos de referencia craneales utilizados en los análisis cefalométrico de jarabak y ricketts, durante el crecimiento activo / Displacement of cranial reference landmarks used in jarabak and ricketts cephalometric analysis during active growth

El objetivo de este trabajo fue evaluar el desplazamiento de los puntos craneales: Nasion, Silla, Basion, Porion, Orbitario y Pterigoideo, utilizados como referencia en los análisis cefalométricos de Jarabak y Ricketts durante el crecimiento activo. Se seleccionaron 120 telerradiografías de perfil en formato digital, correspondientes a 60 pacientes con 2 telerradiografías cada uno, tomadas con un intervalo de tiempo mínimo de 1 año (T1 y T2), en donde T1 se encuentra antes o durante el peak de crecimiento según el Estado de Maduración Cervical Vertebral (CVM) I, II ó III de Baccetti y T2 en estadio CVM IV,V,VI (después del peak de crecimiento). Un examinador previamente calibrado, ubicó los puntos analizados y para evaluar su desplazamiento, se realizaron mediciones en T1 y T2 (3 variables para cada punto), usando como referencia 2 planos que no se modifican a partir de los 5 años de edad (LCB y Vert-T). Para determinar el desplazamiento de los puntos, se calculó la variación promedio observada entre T1 y T2 y se realizó la prueba t para muestras pareadas o Wilcoxon (según distribución) para determinar la existencia de diferencias significativas. Además, se comparó la muestra por sexo, CVM inicial y CVM final. Se encontraron variaciones entre T1 y T2 en todas las medidas, aunque sólo en 5 de ellas se encontraron diferencias significativas; no se encontró diferencias al comparar por sexo, CVM inicial y final. Es así como podemos concluir que todos los puntos craneales analizados sufren desplazamiento durante el crecimiento. Los puntos Basion y Orbitario son los que sufren mayor desplazamiento. Es necesario analizar las implicancias de estas variaciones en los resultados obtenidos de los análisis cefalométrico y evaluar la necesidad de utilizar puntos de referencia alternativos.

The objective of this study was to evaluate the displacement of cranial reference points: Nasion, Sella, Basion, Porion, Orbitale and Pterygomaxillary, used in Jarabak and Ricketts cephalometric analysis, during active growth. Hundred and twenty digitalized lateral telerradiographies, corresponding to 60 patients (2 teleradiographies each one), were collected. The radiographies were taken with a minimum interval of one year between them (T1 and T2), where T1 is taken before or during the pubertal growth peack according to the cervical vertebral maturation stages developed by baccetti (CVM) I, II or III and T2 in CVM IV,V,VI (after the growth peak). Then, a previously calibrated examinator marked reference points and cephalometric measurements were taken (2 variables for each landmark). Measurements were made using craniofacial stable structures as references (stable basicranial line and Vertical T). To detect displacement in the landmark positions, t test or Wilcoxon test according to the distribution of each variable, was used to compare the data between T1 and T2. Also, comparisons were made by sex, and by initial and final CVM. All of the variables have variations between T1 y T2, but only 5 have a statistically significant difference. There were no differences between sexes and at initial and final CVM. In conclusion, all of the reference landmarks analyzed had displacement during active growth. Point Basion and Orbitale suffered the largest displacement. It is necessary to analyze the clinical implications of this displacement in order to evaluate the convenience of using alternative reference landmarks.

Consanguinity on Robinson Crusoe Island, an isolated Chilean population.

The population of Robinson Crusoe Island is estimated at 633 inhabitants. The current population has a common origin from the first eight families who colonized the island at the end of the 19th century. The objective of this study was to determine the rates of consanguinity, the average coefficients of inbreeding, the types of consanguineous marriages and the inbreeding evolution between 1900 and 2000 on the island. All marriages registered on the island, from the last colonization until 2000 (417 in total), were included in the analysis. In addition, extended genealogies were obtained. The consanguinity rate was 14.9% and the average coefficient of inbreeding (α) 54.05 × 10(-4). The most frequent type of consanguineous marriages was between second cousins, followed by first cousins. The average value of the first/second cousin ratio was 1.11. The population of Robinson Crusoe Island has a high rate of inbreeding. The unique characteristic of the island - its small current population, originating from just a few families, with small rate of gene flow - could explain the observed high and increasing consanguinity.

Discovering craniofacial patterns using multivariate cephalometric data for treatment decision making in orthodontics / Descubriendo patrones craneofaciales usando datos cefalométricos multivariados para la toma de decisiones en ortodoncia

The aim was to find craniofacial morphology patterns in a multivariate cephalometric database using a clustering technique. Cephalometric analysis was performed in a sample of 100 teleradiographs collected from Chilean orthodontic patients. Thirty cephalometric measurements were taken from commonly used analysis. The computed variables were used to perform a clustering analysis with the k-means algorithm to identify patterns of craniofacial morphology. The J48 decision tree was used to analyze each cluster, and the ANOVA test to determine the statistical differences between the clusters. Four clusters were found that had significant differences (P<0.001) in 24 of the 30 variables studied, suggesting that they represent different patterns of craniofacial form. Using the decision tree, 8 of the 30 variables appeared to be relevant for describing the clusters. The clustering analysis is effective in identifying different craniofacial patterns based on a multivariate database. The distinct clusters appear to be caused by differences in the compensation process of the facial structure responding to a genetically determined cranial and mandible form. The proposed method can be applied to several databases, creating specific classifications for each one of them.

El objetivo fue encontrar patrones morfológicos craneofaciales, a partir de una base de datos cefalométricos multivariada, utilizando una técnica de clustering. Se realizó un análisis cefalométrico a una muestra de 100 telerradiografías pertenecientes a pacientes chilenos de ortodoncia. Treinta medidas cefalométricas obtenidas de los análisis más utilizados fueron registradas. Las variables computadas se utilizaron para realizar un análisis de clustering con el algoritmo k-medias, para identificar patrones de morfología craneofacial. El árbol de decisión J48 se utilizó para analizar cada cluster, y test de ANOVA para determinar diferencias estadísticamente significativas entre los clusters. Se encontraron cuatro clusters con diferencia estadísticamente significativas (p<0,001) en 24 de las 30 variables estudiadas, lo que sugiere que efectivamente corresponden a diferentes patrones craneofaciales. Utilizando el árbol de decisión, se pudo determinar que 8 de las 30 variables resultaron ser relevantes en la definición de los clusters. El análisis de clustering es efectivo en identificar patrones morfológicos craneofaciales usando una base de datos multivariada. Los distintos cluster encontrados, aparentemente se formarían a partir de diferencias en el proceso de compensación de la estructura facial, en respuesta a la forma mandibular genéticamente determinada. El método propuesto puede ser aplicado a múltiples bases de datos, creando clasificaciones específicas para cada una de ellas.

Procesos de simplificación fonológica en niños con fisura labiovelopalatina intervenidos quirúrgicamente / Phonological processes in children with surgery treated cleft lip and palate

OBJETIVO: conocer las características del desempeño fonológico en niños con fisura labiovelopalatina uni y bilateral, entre 3 y 4,11 años. MÉTODO: se evaluaron 39 pacientes con fisura labiovelopalatina tratada quirúrgicamente, los cuales fueron divididos en 4 grupos de estudio, según el tipo de fisura (uni o bilateral) y edad (3-3,11 años y 4-4,11 años). Para la determinación de la cantidad, tipo y frecuencia de procesos de simplificación fonológica en el grupo de estudio, se aplicó el Test de Procesos de simplificación fonológica (Chile). Los puntajes obtenidos fueron comparados con la norma a través del análisis estadístico t test y analizados descriptivamente. RESULTADOS: se observó una cantidad significativamente mayor de procesos fonológicos presentes en niños con fisura respecto a la norma. Para todos los grupos de estudio los procesos fonológicos de simplificación más frecuentes fueron los de sustitución, con excepción del grupo de niños con fisura unilateral de 3-3,11 años, donde los procesos más frecuentes fueron los relativos a la estructura silábica. CONCLUSIONES: los resultados obtenidos sugieren la necesidad de incluir técnicas de evaluación de la presencia de procesos fonológicos en niños fisurados con el fin que las terapias consideren el entrenamiento para la eliminación de estos procesos en etapas adecuadas del desarrollo, con el fin de mejorar el aspecto conversacional del lenguaje.

PURPOSE: to determine the phonological skills of Chilean children between 3 years and 4 years 11 months old with unilateral and bilateral cleft lip and palate. METHOD: a sample of thirty-nine cleft lip and palate children treated with surgery was divided into four different groups according to the type of cleft lip and palate (unilateral and bilateral) and age (3-3,11 years and 4-4,11 years). We were carried out the TEPROSIF test (Chile), in order to determine the amount, type and frequency of simplification phonological processes in the studied group. The scores obtained were compared with the Chilean standard utilizing the t test statistical package. Descriptive statistics were obtained. RESULTS: more phonologic processes were significantly observed in the cleft group. In all groups the most frequently subtype of simplification phonological processes was the replacement processes' group, except for in the 3-3,11 years of age in unilateral cleft, where the most frequently were the syllabic structure processes. CONCLUSION: results suggest the need to include techniques for assessing the presence of phonological processes in cleft children in order to consider the training for eliminating these processes in their therapies in the appropriate stages of development, aiming at improving the language conversational aspect.

Genome-wide analysis of genetic susceptibility to language impairment in an isolated Chilean population.

Specific language impairment (SLI) is an unexpected deficit in the acquisition of language skills and affects between 5 and 8% of pre-school children. Despite its prevalence and high heritability, our understanding of the aetiology of this disorder is only emerging. In this paper, we apply genome-wide techniques to investigate an isolated Chilean population who exhibit an increased frequency of SLI. Loss of heterozygosity (LOH) mapping and parametric and non-parametric linkage analyses indicate that complex genetic factors are likely to underlie susceptibility to SLI in this population. Across all analyses performed, the most consistently implicated locus was on chromosome 7q. This locus achieved highly significant linkage under all three non-parametric models (max NPL = 6.73, P = 4.0 × 10(-11)). In addition, it yielded a HLOD of 1.24 in the recessive parametric linkage analyses and contained a segment that was homozygous in two affected individuals. Further, investigation of this region identified a two-SNP haplotype that occurs at an increased frequency in language-impaired individuals (P = 0.008). We hypothesise that the linkage regions identified here, in particular that on chromosome 7, may contain variants that underlie the high prevalence of SLI observed in this isolated population and may be of relevance to other populations affected by language impairments.

Association of D16S515 microsatellite with specific language impairment on Robinson Crusoe Island, an isolated Chilean population: a possible key to understanding language development.

Specific language impairment (SLI) is a developmental language disorder that occurs for no known reason. The disorder affects 2-8% of children. Some scientific evidence suggests that genetic factors are implicated in the etiology of SLI. The disorder is genetically complex. Two novel loci, SLI1 on chromosome 16q24 (MIM 606711) and SLI2 on chromosome 19q13 (MIM 606712), have been found to be highly correlated with SLI. Four genes have been identified as susceptibility genes. SLI occurs at an unusually elevated incidence (35%) among the population of Robinson Crusoe Island (Chile), which also has a high consanguinity rate. This finding supports the influence of genetic mechanisms in the transmission of SLI based on a founder effect. To investigate further the genetic involvement in this population, we collected blood samples from 115 islanders from 13 families with a language-impaired proband and from 18 families with a normal-language proband. The analysis of micro satellite marker D16S515, located in locus SLI1, demonstrated that the 230-bp allele was correlated with SLI and that the 232-bp allele was correlated with normal language development. The domain containing the D16S515 marker, therefore, may play a role in language development.

Psicopatología del accidente cerebrovascular según hemisferio cerebral en la fase subaguda en una unidad geriátrica integral de ictus / No disponible

El objetivo de este trabajo es analizar y determinar los trastornos psicopatológicos y neuropsiquiátricos en la fase subaguda del Accidente Cerebrovascular (ACV) según la localización hemisférica de la lesión en una muestra de pacien-tes mayores o iguales de 65 años ingresados en una Unidad Geriátrica Integral de Ictus. También se pretende determinar la influencia del deterioro funcional en la incidencia de las manifestaciones psiquiátricas y psicopatológicas durante la fase subaguda tras un ACV. Existen diferentes manifestaciones psicopatológicas y trastornos neuropsiquiátricos durante la fase subaguda del ACV los cuales no son identificados habitualmente en la práctica clínica y que afectan prácticamente a más de la mitad de las personas que los han sufrido1. Los pacientes con ACV a nivel del hemisferio izquierdo presentan una mayor repercusión cognitiva al ingreso y al alta, mayor alteración del lenguaje y construcción, menor fluidez verbal, mayor falta de cooperación, mayor embotamiento afectivo, mayor tristeza manifiesta, mayor disminución del apetito y mayores dificultades de concentración al ingreso y mayores barreras emocionales al alta. Los pacientes con ACV a nivel del hemisferio derecho presentan al alta una mayor ansiedad psíquica, mayor autoestima exagerada, mayor hostilidad y trastornos del pensamiento. Se ha encontrado sólo asociación entre Trastorno Depresivo Menor post-ACV y ACV a nivel del hemisferio izquierdo. El deterioro funcional no influye en las variables psicopatológicas significativas de cada hemisferio cerebral al ingreso y al alta hospitalaria excepto en la «falta de cooperación». (AU)

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Articulación de fones en individuos clase esqueletal I,II y III / Speech patterns in skeletal class I, II and III subjects

OBJETIVO: determinar los patrones de articulación de fones consonánticos en sujetos de habla española chilena clases I, II y III esqueletal; comparar las diferencias fonéticas que existan entre clases esqueletales. MÉTODOS: se seleccionaron 54 individuos que cumplían con los criterios de inclusión determinados mediante un examen clínico intraoral y a través del análisis de Ricketts, y se conformaron los grupos de estudio de pacientes clases esqueletales I, II y III. Se les realizó un examen fonoarticulatorio estandarizado para determinar los fones modificados y el patrón articulatorio compensatorio realizado. RESULTADOS: se observaron cambios en el punto de articulación de fones consonánticos en las tres clases esqueletales, con diferencias significativas en los grupos de fones anteriores y medios entre pacientes clases I y II, sólo en el grupo de los fones anteriores entre pacientes I y III. Entre pacientes clases II y III no se observaron diferencias significativas. Se reportan modificaciones y compensaciones cualitativamente distintas entre las clases esqueletales. CONCLUSIONES: en relación a pacientes clase I, los pacientes clase II o III, presentan distinto grado de modificación en el punto de articulación de fones consonánticos. Las diferencias observadas se relacionan con los patrones esqueletales propios de cada clase.

PURPOSE: to determine the consonant phonemes articulation patterns in Chilean skeletal class I, II and III Spanish speakers and compare their phonetic differences. METHODS: fifty-four skeletal class I, II and III subjects were selected, based on intraoral clinical examination and Ricketts cephalometric analysis, constituting the study groups. A standardized phonoarticulatory test was applied to each patient to determine the modified phonemes and their compensatory patterns. RESULTS: the findings indicate changes in articulation in all three groups. Significant differences were found in anterior and medium phonemes between skeletal class I and II and only in the anterior phonemes between skeletal class I and III. There were no significant differences between II and III skeletal groups. Qualitatively different modifications and compensations between skeletal classes are reported. CONCLUSION: different degree of modification in consonant phonemes articulation is shown in class II and III patients when compared to class I skeletal subjects. These differences are related to the skeletal patterns.

[High prevalence of specific language impairment in Robinson Crusoe Island. A possible founder effect]. / Alta prevalencia de trastorno específico de lenguaje en isla Robinson Crusoe y probable efecto fundador.

BACKGROUND: Specific language impairment (SLI) occurs in 2% to 8% of preschool children. Major and candidate genes are probably involved. Genetic drift is a cause for the presence of high frequencies of deleterious alíeles of a specific disease and the founder effect is one of its forms. Robinson Crusoe Island has 633 inhabitants and its actual population began with 8 families that repopulated the island at the end of XIXth century. AIM: To assess the frequency of specific language impairment among children living in Robinson Crusoe Island. MATERIAL AND METHODS: All 66 children aged between 3 and 9 years living in the island, were studied. Parents were interviewed and in children, non verbal intelligence, audiometric parameters, comprehension and expression of oral language were assessed. Extended genealogies were also performed. RESULTS: Forty children had at least one parent that was descending of founder families. Among these, 35% had SLI. Eighth five percent of SLI affected children came from the same colonizer family. CONCLUSIONS: The prevalence of SLI in Robinson Crusoe Island is higher than that reported in mainland Chile and abroad. This high prevalence, associated to a high frequency of consanguinity, supports the influence of genetic mechanisms in SLI transmission, based on a founder effect.

Alta prevalencia de trastorno específico de lenguaje en isla Robinson Crusoe y probable efecto fundador / High prevalence of specific language impairment in Robinson Crusoe Island. A possible founder effect

Specific language impairment (SLI) occurs in 2 percent to 8 percent of preschool children. Major and candidate genes are probably involved. Genetic drift is a cause for the presence of high frequencies of deleterious alíeles of a specific disease and the founder effect is one of its forms. Robinson Crusoe Island has 633 inhabitants and its actual population began with 8 families that repopulated the island at the end ofXIXth century. Aim To assess the frequency of specific language impairment among children living in Robinson Crusoe Island. Material and methods: All 66 children aged between 3 and 9 years living in the island, were studied. Parents were interviewed and in children, non verbal intelligence, audiometric parameters, comprehension and expression of oral language were assessed. Extended genealogies were also performed. Results: Forty children had at least one parent that was descending of founder families. Among these, 35 percent had SLI. Eighth five percent of SLI affected children came from the same colonizer family. Conclusions: The prevalence of SLI in Robinson Crusoe Island is higher than that reponed in mainland Chile and abroad. This high prevalence, associated to a high frequency of consanguinity, supports the influence of genetic mechanisms in SLI transmission, based on a founder effect.

Modificaciones en la articulación de fones en pacientes con aparato ortodóncico fijo lingual / Speech changes in lingual orthodontic appliances patients

OBJETIVO: el presente trabajo pretende evaluar el efecto de los aparatos ortodóncicos fijos linguales en la articulación de los fones, en pacientes que hablen español chileno, y la adaptación a estos efectos dentro del primer mes de uso de los aparatos. MÉTODOS: la muestra consistió en 13 pacientes que acudieron para instalación de aparato ortodóncico fijo lingual. Se realizó un examen fonoarticulatorio en condiciones estandarizadas, en 5 momentos diferentes: previo a la instalación de los aparatos fijos (E0), inmediatamente después de realizada esta (E1), a las 24 horas posteriores (E2), a los 7 días (E3) y un mes después de la instalación (E4). Se determinaron los fones afectados en los distintos momentos de examen respecto a la línea base dada por el examen previo, y se analizó su resolución. RESULTADOS: se observaron cambios significativos en el punto de articulación de los fones [d], [s] y [r] Los fones [d] y [s] mostraron una resolución favorable dentro del primer mes de uso de los aparatos. El fone vibrante múltiple [r] no mostró una recuperación de la alteración una vez cumplido un mes de uso de los aparatos ortodóncicos. CONCLUSIONES: la instalación de aparato ortodóncico fijo lingual produce modificaciones en el punto de articulación de los fones consonánticos, las cuales tienden a mejorar dentro del primer mes de uso de los aparatos, con excepción del fone vibrante múltiple [r].

PURPOSE: this study evaluated the effect of lingual orthodontics appliances on speech performance in native Chilean spanish speakers, and their adaptation to these effects during the first month. METHODS: phone production was recorded in a standardized test, in 13 patients with lingual orthodontic brackets, in 5 different times: before (E0), immediately after (E1), within 24 hours after (E2), within 7 days after (E3) and 1 month after (E4) the placement of fixed orthodontic lingual appliances, for assessment by speech professionals. RESULTS: statistically significant changes were observed in the articulation of [d], [s] and [r] phones. Sounds [d] and [s] showed an improvement within first month of use of the appliances. Phone alveolar vibrant [r] did not show a significant reduce of sound impairment performance. CONCLUSION: lingual appliances placement induce impairment in sound performance but these changes show an improvement within the first month of use, with exception of alveolar vibrant [r] phone.

Parámetros de estética facial y gradiente sociogenético en niños chilenos / Facial esthetics and sociogenetic gradient parameters in chilean children

Objetivo: determinar valores antropométricos de estética facial de niños de 5 y 8 años de edad, concaracterísticas físicas y oclusales normales, pertenecientes a diferentes grupos sociogenéticos deSantiago de Chile, debido a que es un país con marcada mezcla indígena, y compararlos entre sísegún sexo y estrato para cada grupo etáreo y con los valores norteamericanos utilizados internacionalmentepublicados por Farkas. Metodos: se realizó un análisis facial basado en Arnett y Farkas,utilizando fotografía digital apoyada por examen clínico, en cuatro muestras, clasificadas según denticióny estrato. Resultados: no existen diferencias entre sexo ni estrato en Chile, ni tampoco cuando estasson comparadas con las medidas norteamericanas. Conclusiones: las mediciones antropométricasfaciales determinadas para los distintos grupos sociogenéticos en Santiago Chile no difieren entre sini con las publicadas por Farkas, por lo que estas pueden ser utilizadas en la clínica en Santiago conpoblaciones étnicamente mixtas.

Purpose: to compare anthropometric measurements of facial esthetics in 5 and 8 years old children,with normal physical and occlusal characteristics, belonging to different sociogenetic groups fromSantiago de Chile (mixed ethnic population); and with north American Caucasian parameters publishedby Farkas. Methods: a facial analysis based on Arnett and Farkas was carried out, using digitalphotography supported by a clinical examination, in four samples, according to the dentition andsociogenetic stratum. Results: the results show no differences in Chile according to sex and stratum,neither with Caucasian measurements. Conclusion: the anthropometric measurements of facialaesthetics in sociogenetic groups from Santiago are not different with Farkas Caucasian measurementsand can be used for clinical purposes in mixed ethnically Chilean populations.

[Possible association due to linkage disequilibrium of TGFA, RARA and BCL3 with nonsyndromic cleft lip with or without cleft palate in the Chilean population]. / Estudio de asociación por desequilibrio de ligamiento entre los genes TGFA, RARA, y BCL3 y fisura labiopalatina no sindrómica (FLPNS) en la población chilena.

BACKGROUND: Nonsyndromic cleft lip/palate (NSCLP) is a congenital malformation with the characteristics of a complex genetic trait. Based on experimental evidences as well as on association and linkage studies candidate genes TGFA, RARA and BCL3 have been postulated as being involved in the genetic etiology of this pathology. AIM: To test the possible association due to linkage disequilibrium between microsatellite markers located at less than 1cM from the three candidate genes and nonsyndromic cleft lip/palate using the case-parents trio design. PATIENTS AND METHODS: The sample consisted of 58 case-parents trios. Two microsatellite markers, flanking each one of the candidate genes were analyzed by means of the polymerase chain reaction (PCR) with fluorescent labeled microsatellite markers. Electrophoresis of the PCR products was performed on a laser-fluorescent automatic DNA sequencer. Nonparametric ETDT was used to analyze the genotype data. RESULTS: Significant linkage disequilibrium was detected between D2S443 (TGFA) and NSCLP. Significance was almost reached between D17S800 (RARA) and NSCLP. Alleles 239bp (D2S443) and 172bp (D17S800) showed significant preferential transmission from heterozygous parents to affected offspring. In the case of BCL3 both markers showed no significant results. CONCLUSIONS: The results of the present study do not show clear evidence that TGFA or RARA could be involved in the genetic etiology of NSCLP. Even though the importance of retinoic acid in the development of the embryo is well documented the results obtained for RARA are difficult to analyze. In relation to the possible role of BCL3 in NSCLP, recent information postulates that other genes located in the same chromosome region could be involved in NSCLP.

No evidence for linkage and association between 4q microsatellite markers and nonsyndromic cleft lip and palate in chilean case-parents trios.

OBJECTIVE: Nonsyndromic cleft lip/palate (NSCLP) has the characteristics of a complex genetic trait. Linkage and association studies have suggested that one or more clefting loci may be located on chromosome 4q. The goal of this study was to evaluate the possible linkage and association due to linkage disequilibrium between five microsatellite markers located on 4q28 to 4q33 and NSCLP, using the case-parent trio design. SUBJECTS AND METHODS: A total of 56 Chilean families (32 simplex and 24 multiplex) were recruited. Microsatellite markers were analyzed using polymerase chain reaction with fluorescent-labeled forward primers, followed by electrophoresis on a laser-fluorescent sequencer. Case-parents trios were ascertained to assess linkage and linkage disequilibrium through a multistage procedure. Transmission disequilibrium tests for multiple alleles were carried out to assess the statistical significance of 4q28 to 4q33 microsatellite markers. RESULTS: Only weak evidence for linkage was obtained for the FGA marker (asymptotic uncorrected p value = .08 and empirical p value = .05). Only the FGA and UCP1 markers were selected for association analysis in trios, with unrelated cases achieving a nearly significant result for the UCP1 marker (asymptotic uncorrected p value = .07 and empirical p value = .19). CONCLUSION: Though the FGA and UCP1 markers showed nearly significant p values for linkage and association, respectively, the results of the present study provided insufficient evidence of the existence of a major susceptibility locus in the 4q region that was analyzed in the present study.