Designing measures for profiling and genotype/phenotype studies of individuals with genetic syndromes or developmental language disorders

2005 ◽  
Vol 26 (1) ◽  
pp. 41-64 ◽  
Author(s):  
CAROLYN B. MERVIS ◽  
BYRON F. ROBINSON

Accurate phenotypic description is critical for the success of studies of the genetic basis for developmental language disorders. An important purpose of such a phenotypic description is to differentiate the language and associated cognitive profiles of syndromes or other developmental language disorders with diverse genotypes. In this paper we consider six measurement issues relevant to genotype/phenotype research and profiling: (a) Who is the target population? (b) What is the “ideal” measure of a single component of language? (c) What is the “ideal” measure(s) for quantifying the language (or language and cognitive) profile for a particular syndrome or disorder? (d) What are the special measurement issues for infants and young children? (e) How do we develop a profile? (f) What are the unresolved issues?

1975 ◽  
Vol 18 (2) ◽  
pp. 229-241 ◽  
Author(s):  
Dorothy M. Aram ◽  
James E. Nation

Tests to measure comprehension, formulation, and repetition of certain phonologic, syntactic, and semantic aspects of language were administered to 47 children who had developmental language disorders. A factor analysis of the resultant scores indicated that three factors were present in the data. These factors are presented as six patterns of language performance, one for high loadings on the factor and one for low loadings. The six patterns are (1) repetition strength (Factor I, high); (2) nonspecific formulation-repetition deficit (Factor I, low); (3) generalized low performance (Factor II, high); (4) phonologic comprehension-formulation-repetition deficit (Factor II, low); (5) comprehension deficit (Factor III, high); and (6) formulation-repetition deficit (Factor III, low). Possible relations among these patterns and nonlinguistic measures (sex, race, age, nonverbal intelligence, socioeconomic status, and status of the peripheral speech mechanism) were investigated. Two of the patterns of language performance were found to be related significantly to age. On Factor II, the younger children tended to get high loadings (generalized low performance) while the older children tended to get low loadings (phonologic comprehension-formulation-repetition deficit).


Retos ◽  
2015 ◽  
pp. 42-47
Author(s):  
Angeles Filgueira Perez

En el presente estudio se ha tratado de obtener una aproximación al perfil ideal del entrenador de alto rendimiento en atletismo. En el mundo del deporte de alta competición, el entrenador debe desarrollar funciones de maestro, técnico y líder, lo cual hace difícil delimitar sus competencias (conocimientos, habilidades y cualidades personales). Por tanto, la principal motivación de este trabajo es establecer el papel que debe desempeñar el entrenador para la preparación física, técnica, táctica, psicológica y moral del deportista de alto nivel. Para ello, se ha considerado como población objeto de estudio al conjunto de entrenadores de alto rendimiento que en el momento de la investigación estuviesen activo, ya que interesaba realizar este estudio desde su propia perspectiva. Los datos recogidos forman parte de una investigación más amplia, llevada a cabo mediante encuesta, para la que se diseñó un cuestionario de 78 preguntas en el que se abarcaban tres temas: el perfil del entrenador y del deportista, así como la figura del formador de entrenadores en el Practicum. En este trabajo nos centramos en el primer tema y el análisis de la información obtenida nos permite concluir que la que práctica totalidad de los entrenadores de atletismo consideran necesario dominar con precisión los aspectos técnico-metodológicos. Además, consideran que su ética profesional debe estar regida por los principios de autonomía y beneficencia, de modo que valores como la honestidad y la justicia deben primar en el desarrollo de sus funciones.Abstract: In the current study, we have tried to get an approximation of the ideal profile of high performance coaches in athletics. In the high-level sports world, the coach must develop the role of teacher, technician and leader,  which makes it difficult to delimit  his/her competencies (knowledge, skills and personal qualities). Therefore, the main motivation of this work is to define the role that the coach plays in relation  to the physical, technical, tactical, psychological and moral preparation of elite athletes. Keeping this aim as an objective, we have considered as the target population the high performance coaches who are active at the time of the investigation, since we were interested  in knowing their own perspective. The data that was collected is a part of a wider investigation, conducted by a survey, for which we designed a questionnaire of 78 questions divided on three topics: the profile of the coach and the athlete, as well as the figure of the coach educator in the Practicum. In this work, we focus on the first topic and the analysis of the information that we obtained allows us to conclude that almost all the track and field coaches find it necessary to dominate the technical and methodological aspects. They also consider that professional ethics must be governed by the principles of autonomy and care that values   like honesty and justice must prevail in the performance of their work.


2021 ◽  
Author(s):  
Courtenay Norbury ◽  
Sarah Louise Griffiths ◽  
George Vamvakas ◽  
Gillian Baird ◽  
Tony Charman ◽  
...  

Objectives. The purpose of this study was to determine the changing prevalence of developmental language disorders at different quintiles of the Income Deprivation Affecting Children Index (IDACI), a measure of neighbourhood deprivation. In addition, this study investigated the long term association of IDACI rank with growth in language and literacy skills for children with and without language disorder over a six year period.Design. Prospective, population-based, longitudinal cohort study.Setting. State-maintained primary schools in Surrey, England.Participants and procedure. Teachers rated the language skills of 7267 children starting a state-maintained school in 2011 (aged 4;9-5;10, 59% of all eligible children). Comprehensive language and literacy assessment was conducted with a monolingual sub-sample in Year 1 (n = 529, age 5-6), Year 3 (n = 499, age 7-8), and Year 6 (n = 384, age 10-11).Analytic methods. Logistic regression determined the association of IDACI scores and teacher-rated language proficiency. Structural Equation Models using auxiliary variables estimated the association of IDACI and prevalence of developmental Language Disorder (LD) in Year 1, and IDACI and language and literacy growth from Years 1 – 6.Results. Predicted probability of language disorder was 2.5 times greater at the 10th centile of IDACI rank (.19 [.11, .27]) versus the 90th centile (.07 [.04, .09]). IDACI rank did not associate with growth in raw scores on measures of vocabulary, grammar, or word reading. Socioeconomic gaps in vocabulary and grammar were ameliorated when language status at school entry was accounted for, but persisted for word reading. Conclusions. The association of neighbourhood disadvantage with language and literacy primarily reflects higher rates of language disorder in areas of socio-economic deprivation. Interventions that alleviate deprivation and enhance the language and literacy experiences of disadvantaged children could reduce socioeconomic attainment gaps. However, the persistence of language disorder suggests on-going support is required to attenuate personal and societal cost.


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