Genetic Evaluation of Children with Autism Spectrum Disorders in Developing and Low-Resource Areas

Autor/inn/en	Masri, Amira T.; Nasir, Arwa; Irshaid, Fatima; Alomari, Farah; Irshaid, Aya; Al-Qudah, Abdelkarim; Nafi, Omar; Almomani, Miral
Titel	Genetic Evaluation of Children with Autism Spectrum Disorders in Developing and Low-Resource Areas
Quelle	In: Autism: The International Journal of Research and Practice, 26 (2022) 6, S.1491-1498 (8 Seiten) PDF als Volltext Verfügbarkeit
Zusatzinformation	ORCID (Masri, Amira T.)
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	1362-3613
DOI	10.1177/13623613211055535
Schlagwörter	Autism Spectrum Disorders; Genetic Disorders; Hospitals; Diagnostic Tests; Foreign Countries; Children; Parents; Physicians; Screening Tests; Pediatrics; Barriers; Jordan + Suchen Sie Ihr Suchwort? Autism; Autismus; Krankengymnast; Krankenhaus; Diagnostic test; Diagnostischer Test; Ausland; Child; Kind; Kinder; Eltern; Physician; Doctor; Arzt; Screening-Verfahren; Klinische Sozialpädiatrie
Abstract	Autism spectrum disorder is a neurodevelopmental disorder in which genetic factors play key roles. Limited research has been conducted on genetic testing of children with autism spectrum disorder in low middle-income countries. This prospective cross-sectional study was conducted at the pediatric neurology clinics of three university hospitals in Jordan. Data were obtained from a convenience sample of parents of children with autism spectrum disorder who received care at these hospitals. Research personnel interviewed the parents and completed a questionnaire. A total of 274 parents were interviewed. A minority of children received chromosomal microarray (14.6%) or fragile X syndrome (4.4%) testing, as recommended by clinical guidelines. Karyotyping was performed in 103 (37.6%) patients, and whole-exome sequencing was performed in 9 (3.3%). The most common reason for not performing the recommended diagnostic investigations was that they were not ordered by the physician (185; 67.5%). The majority of children underwent non-genetic evaluations, including brain magnetic resonance imaging (222; 81.0%), electroencephalogram (221; 80.7%), and brain computed tomography scans (136; 49.6%). Only a minority of children with autism spectrum disorder in Jordan receive genetic workup, which may reflect a gap in physicians' knowledge of clinical guidelines, as well as the availability and affordability of these tests. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2024/1/01