Due to the lack of appropriate tests for the assessment of speech sounds of Azeri Turkish speaking children, the present study aimed to develop and validate a single word test. A total of 150 typically developing children were recruited in the study (30 children for investigating the name agreement and 120 children to establish construct validity). In the first step, a test with 31 items was developed in terms of suggested criteria in the literature including word frequency, word length, syllabic structure, familiarity, and picturability of words. Then, we asked the expert panel's opinion for the test items. The value of the content validity ratio for each target word was 1.00 except for one item. To administer the test, we asked the participants to name images. Name agreement of the items was determined through administrating the test. The percentages for the indices of name agreement were 87.68 and 0.17, respectively. The findings of the item-by-item test-retest and inter-rater reliability showed satisfactory values in terms of consonants in the initial and final positions. Also, the value of the internal consistency was calculated to be = 0.78 ( < 0.001). The psychometric properties of this scale with 31 items proved that it is appropriate for quantifying the speech sound production in Azeri Turkish typically developing children.
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http://dx.doi.org/10.1080/21622965.2021.1935255 | DOI Listing |
Neurogenetics
November 2024
Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
We present a 7.5-year-old boy born to a family from the Iranian Azeri Turkish ethnic group with a consanguineous marriage who presents with a unique set of symptoms, suggesting Giant Axonal Neuropathy. He achieved independent walking at age 3 years, with frequent falling during running.
View Article and Find Full Text PDFJ Mol Neurosci
October 2024
Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
Hereditary sensory and autonomic neuropathy (HSAN) is a rare genetic disorder that primarily affects the peripheral nervous system, leading to a progressive loss of the ability to perceive pain, temperature, and touch. This condition can result in severe complications, including injuries and infections due to the inability to feel pain. HSAN is classified into nine types, with types I and VII exhibiting autosomal dominant inheritance, while the others follow an autosomal recessive pattern.
View Article and Find Full Text PDFCurr Genomics
December 2023
Animal Biology Department, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran.
Background: The gene encodes a multifunctional kinase involved in important cellular functions, such as checkpoint signaling and apoptosis, in response to DNA damage. Bi-allelic pathogenic variants in this gene cause Ataxia Telangiectasia (AT), while carriers of pathogenic variants are at increased risk of cancer depending on the pathogenicity of the variant they carry. Identifying pathogenic variants can aid in the management of the disease in carriers.
View Article and Find Full Text PDFMol Syndromol
December 2023
Department of Biology, Faculty of Natural Science, University of Tabriz, Tabriz, Iran.
Background: Waardenburg syndrome (WS) is an inherited heterogeneous auditory pigmentary syndrome, divided into at least four types and characterized by iris heterochromia, white forelock, prominent nasal root, dystopia canthorum, middle eyebrow hypertrichosis, and deafness. Pathogenic variants in the gene have been reported to be involved in WS disease.
Methods: Whole exome sequencing (WES) was conducted on a 24-year-old male, who originated from Iranian Azeri Turkish ethnic group, with symptoms of deafness and blue eyes from brown-eyed parents.
Mol Biol Rep
October 2023
Animal Biology Department, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran.
Background: Severe combined immune deficiencies (SCIDs) are genetically heterogeneous disorders that lead to the absence or malfunction of adaptive immune cells, including T- and B-cells. Pathogenic variants in the RAG2 gene are associated with this disease.
Methods: A couple with consanguineous marriage from the Iranian-Azeri-Turkish ethnic group was referred to the genetic lab.
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