Search Results - "Garayzábal Heinze, Elena"
-
1
Beyond the conservative hypothesis: a meta-analysis of lexical-semantic processing in Williams syndrome
Published in Language and cognition (01-09-2023)“…Abstract Williams syndrome (WS) is a rare genetic disorder, characterised at the cognitive level by a phenotypic pattern of relative weaknesses (e.g.,…”
Get full text
Journal Article -
2
Voice Characteristics in Smith–Magenis Syndrome: An Acoustic Study of Laryngeal Biomechanics
Published in Languages (Basel) (01-09-2020)“…Smith–Magenis syndrome (SMS) is a rare genetic disease characterized by intellectual disability, serious behavior disorders, neurodevelopment delay, and speech…”
Get full text
Journal Article -
3
Concrete and relational vocabulary: Comparison between Williams and Smith–Magenis syndromes
Published in Research in developmental disabilities (01-12-2014)“…•This is the first study comparing Williams (WS) and Smith Magenis syndromes on concrete and relational vocabulary.•Performance in concrete and relational…”
Get full text
Journal Article -
4
Psycholinguistic abilities of children with Williams syndrome
Published in Research in developmental disabilities (01-05-2012)“…► Psycholinguistic abilities of children with Williams syndrome (WS) and typically developing groups (TD) were explored. ► Within-group analyses evidenced…”
Get full text
Journal Article -
5
La transcripción de registros de audio en el ámbito policial y judicial español: una propuesta de criterios
Published in Logos (La Serena, Chile) (01-06-2019)“…Resumen: A lo largo de los años, investigadores de numerosos campos han presentado diferentes criterios y convenciones para transcribir muestras orales…”
Get full text
Journal Article -
6
Autism spectrum symptoms in Smith-Magenis syndrome and Williams syndrome: comparisons and contrasts
Published in International journal of developmental disabilities (01-01-2015)“…Objectives: Genetic syndromes with distinctive cognitive and behavioural phenotypes - such as Smith-Magenis syndrome (SMS) and Williams syndrome (WS) - offer…”
Get full text
Journal Article -
7
Analysis of Spanish consonant recognition in 8-talker babble
Published in The Journal of the Acoustical Society of America (01-05-2017)“…This paper presents the results of a closed-set recognition task for 80 Spanish consonant-vowel sounds (16 C × 5 V, spoken by 2 talkers) in 8-talker babble…”
Get full text
Journal Article -
8
Noninvasive Deep Learning Analysis for Smith–Magenis Syndrome Classification
Published in Applied sciences (01-11-2024)“…Smith–Magenis syndrome (SMS) is a rare, underdiagnosed condition due to limited public awareness of genetic testing and a lengthy diagnostic process. Voice…”
Get full text
Journal Article -
9
Uncommon genetic syndromes and narrative production - Case Studies with Williams, Smith-Magenis and Prader-Willi Syndromes?
Published in International journal of developmental disabilities (01-03-2012)“…This study compares narrative production among three syndromes with genetic microdeletions: Williams syndrome (WS), Smith-Magenis syndrome (SMS), and…”
Get full text
Journal Article -
10
Beyond the conservative hypothesis: a meta-analysis of lexical-semantic processing in Williams syndrome – ERRATUM
Published in Language and cognition (01-09-2023)Get full text
Journal Article -
11
Identification of Smith-Magenis syndrome cases through an experimental evaluation of machine learning methods
Published in Frontiers in computational neuroscience (2024)“…This research work introduces a novel, nonintrusive method for the automatic identification of Smith-Magenis syndrome, traditionally studied through genetic…”
Get full text
Journal Article -
12
Acoustic Analysis of Phonation in Children With Smith–Magenis Syndrome
Published in Frontiers in human neuroscience (03-06-2021)“…Complex simultaneous neuropsychophysiological mechanisms are responsible for the processing of the information to be transmitted and for the neuromotor…”
Get full text
Journal Article -
13
Lexico-semantic processing in Williams syndrome
Published in Psicothema (01-11-2010)“…People with Williams syndrome, a neurodevelopmental genetic syndrome, typically have good language skills as compared to other cognitive abilities, as far as…”
Get full text
Journal Article -
14
Can individuals with Down syndrome improve their grammar?
Published in International journal of language & communication disorders (01-05-2013)“…Morphosyntax constitutes one of the most complex areas of language. It takes into account the structure of the word and that of the sentence, and its…”
Get full text
Journal Article -
15
Diferencias fonológicas entre síndromes del neurodesarrollo: evidencias a partir de los procesos de simplificación fonológica más frecuentes
Published in Revista de investigación en logopedia (10-09-2019)“…Los trastornos del neurodesarrollo presentes en alteraciones como el síndrome de Down, el síndrome de Williams y el síndrome de Smith Magenis subyacen en las…”
Get full text
Journal Article -
16
Neurodevelopmental features of Smith-Magenis syndrome: strengths and weaknesses
Published in International journal of developmental disabilities (01-11-2013)“…Objectives: This study examined data on multidimensional functioning in a group of individuals with Smith-Magenis syndrome (SMS). Methods: Parents of 19…”
Get full text
Journal Article -
17
General cognitive functioning and psycholinguistic abilities in children with Smith-Magenis Syndrome
Published in Psicothema (01-11-2011)“…This study is a neuropsycholinguistic research of a rare genetic syndrome with microdeletion that co-occurs with intellectual disabilities and relatively good…”
Get full text
Journal Article -
18
Cross-linguistic assessment of verbal production from a narrative task in Williams Syndrome
Published in Psicothema (01-08-2007)“…Williams Syndrome (WS) is a disorder caused by a delection in chromosome 7, with a cognitive profile characterised by mild to moderate mental deficiency and…”
Get full text
Journal Article -
19
Funcionamiento cognitivo general y habilidades psicolinguisticas en niños con sindrome de Smith-Magenis
Published in Psicothema (01-10-2011)“…Presentamos un estudio psicolingüístico de una afección genética rara por microdelección que cursa con discapacidad intelectual y una relativamente buena…”
Get full text
Journal Article -
20
La lingüística clínica: teoría y práctica
Published in ELUA (15-12-2009)“…La Lingüística Clínica es un nuevo ámbito de aplicación del conocimiento lingüístico. Su reconocimiento oficial en Reino Unido, en el año 1972, queda lejos de…”
Get full text
Journal Article