Publications by authors named "Rachel Sayuri Honjo Kawahira"
Purpose: to evaluate cochlear functionality in Williams syndrome (WS) individuals.
Methods: a study with 39 individuals, being 22 with WS aged between 7 and 17 years, 15 male and 7 female, and 17 individuals with typical development and normal hearing. All individuals were evaluated using pure tone audiometry, acoustic immittance measurements, and Transient Evoked Otoacoustic Emissions (TEOAE).
Objectives: The objective of this study was to investigate auditory hypersensitivity in WS and to evaluate hyperacusis through standardized protocols, checking if it can be associated with the absence of acoustic reflexes in people with WS.
Method: The study was performed in 17 individuals with WS, aged between seven and 17 years old (10 males and seven females), and 17 individuals with typical development age- and gender-matched to individuals with WS. Statistical tests were used to analyze the responses collected with the Loudness Discomfort Level (LDL) test as well as ipsilateral and contralateral reflex responses.
Individuals with Williams Syndrome (WS) have specific auditory characteristics, including hypoacusis and hyperacusis, and music appreciation skills. Little is known about the functionality of the central auditory nervous system (CANS) for sound processing in WS. Thus, the objective of the present study was to evaluate the functionality of the CANS in individuals with WS, based on auditory event-related potentials, as far as cognitive and behavioral aspects are concerned.
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- A study assessed tall stature individuals, aiming to find genetic causes for their growth disorders while differentiating between syndromic and non-syndromic cases.
- Researchers used various genetic testing methods, including karyotype analysis and whole-exome sequencing, on 42 patients.
- The findings revealed that 33.3% of the patients were diagnosed with genetic conditions, with a higher success rate in syndromic patients (43.3%) compared to non-syndromic patients (8.3%).
Article Synopsis
- This study aimed to investigate the genetic factors behind syndromic short stature in children who were born small for gestational age and had unexplained developmental issues.
- Researchers analyzed whole exome sequencing data from 44 selected children, finding that 34% had pathogenic variants in known genes related to growth disturbances, highlighting the genetic complexity involved.
- The findings suggest that whole exome sequencing is a valuable tool for diagnosing syndromic short stature in patients who have not found answers through traditional testing methods.
Objectives: To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments.
Methods: Observational and retrospective study of 39 patients who were attended at a public tertiary level hospital between 1995 and 2016.
Results: Diagnosis was made prenatally in 11 patients, at birth in 9 patients and within the first year of life in 13 patients.