Background: The diagnosis of autism spectrum disorder (ASD) cases is increasing in Taiwan. Genetic testing for children with ASD offers several potential benefits and is available with out-of-pocket expenses. Parents play a pivotal role in having their children with ASD tested; therefore, understanding their perceptions of, and perceived barriers to genetic testing is vital.
Methods: Semi-structured interviews were conducted with 39 parents of children with ASD in Taiwan. Interviews were recorded and transcribed verbatim. NVivo 12 software (QSR International, Doncaster, Australia) was used to facilitate an inductive coding methodology.
Results: The majority of participants (74.4%) supported ASD genetic testing for their children with ASD, citing reasons such as clarifying ASD etiology, well-informed family planning, contributing to ASD research, and early ASD detection and intervention. Others indicated that they were either against such testing (17.9%), or unsure (7.7%) about whether to take their children with ASD for genetic testing. Those who were opposed reported that their main concerns related to perceptions of no value of genetic testing, potential for family conflict, and financial difficulties.
Conclusions: Most of the parents of children with ASD that we interviewed expressed favorable views of ASD genetic testing. There exists a need to increase parental access to education and counseling, and to include testing coverage in Taiwanese national health insurance.
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http://dx.doi.org/10.3390/ijerph19010118 | DOI Listing |
Front Cardiovasc Med
December 2024
Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China.
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia disorder characterized by ventricular arrhythmia triggered by adrenergic stimulation.
Case Presentation: A 9-year-old boy presented with convulsions following physical exertion. Bidirectional ventricular tachycardia (VT) during a treadmill test led to the diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT).
This case report highlights the clinical complexity of Bardet-Biedl syndrome, a rare autosomal recessive disorder, emphasizing reproductive anomalies to aid in diagnosis and management. It underscores the importance of thorough assessment and advocates for genetic testing to optimize care, despite current financial, and laboratory constraints.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
December 2024
One Health Research Group, Universidad de las Americas, Quito, Ecuador.
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors derived from chromaffin cells, with 80-85% originating in the adrenal medulla and 15-20% from extra-adrenal chromaffin tissues (paragangliomas). Approximately 30-40% of PPGLs have a hereditary component, making them one of the most genetically predisposed tumor types. Recent advances in genetic research have classified PPGLs into three molecular clusters: pseudohypoxia-related, kinase-signaling, and -signaling pathway variants.
View Article and Find Full Text PDFJ Natl Cancer Cent
December 2024
Department of Urology, Changhai Hospital, Naval Medical University (Second Military Medical University), Shanghai, China.
Background: Tumor-derived exosomes are involved in tumor progression and immune invasion and might function as promising noninvasive approaches for clinical management. However, there are few reports on exosom-based markers for predicting the progression and adjuvant therapy response rate among patients with clear cell renal cell carcinoma (ccRCC).
Methods: The signatures differentially expressed in exosomes from tumor and normal tissues from ccRCC patients were correspondingly deregulated in ccRCC tissues.
J Skin Cancer
December 2024
Scientific Department, Medical Laboratory CSD, Kyiv, Ukraine.
Point mutations at codon 600 of the BRAF oncogene are the most common alterations in cutaneous melanoma (CM). Assessment of BRAF status allows to personalize patient management, though the affordability of molecular testing is limited in some countries. This study aimed to develop a model for predicting alteration in BRAF based on routinely available clinical and histological data.
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