Watfa Al-Mamari, Ahmed B Idris, Najat Fadlallah, Saquib Jalees, Muna Al-Jabri, Halima Al-Shehhi, Maha Mohammed, Abeer Alsayegh
{"title":"血缘关系:自闭症严重程度的无辜罪魁祸首。","authors":"Watfa Al-Mamari, Ahmed B Idris, Najat Fadlallah, Saquib Jalees, Muna Al-Jabri, Halima Al-Shehhi, Maha Mohammed, Abeer Alsayegh","doi":"10.18295/squmj.10.2024.052","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to investigate the relationship between consanguinity and the severity of autism spectrum disorder (ASD), a neurodevelopmental condition influenced by both genetic and environmental factors.</p><p><strong>Methods: </strong>This retrospective study, conducted at the Genetic & Developmental Medicine Clinic at Sultan Qaboos University Hospital (SQUH), Muscat, Oman, examined the records of 139 children aged 1.5 to 14 years who were diagnosed with ASD between June 2011 and May 2024. The study analysed the correlation between consanguinity, homozygosity and ASD severity.</p><p><strong>Results: </strong>Of the 139 cases evaluated, 74.1% were male, with an average age of diagnosis of 4.5 ± 2 years. Most ASD cases were classified at severity levels 2 (63.3%) and 3 (35.3%). Consanguinity was reported in 59% of the cases, with a mean homozygosity rate of 4.6%. No significant correlation was found between consanguinity or homozygosity rates and ASD severity.</p><p><strong>Conclusions: </strong>No significant association was found between consanguinity or homozygosity rates and ASD severity. Further research is necessary to explore the genetic mechanisms underlying ASD in consanguineous populations.</p>","PeriodicalId":22083,"journal":{"name":"Sultan Qaboos University Medical Journal","volume":"25 1","pages":"114-121"},"PeriodicalIF":0.0000,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12255345/pdf/","citationCount":"0","resultStr":"{\"title\":\"Consanguinity: <i>The innocent culprit in autism severity</i>.\",\"authors\":\"Watfa Al-Mamari, Ahmed B Idris, Najat Fadlallah, Saquib Jalees, Muna Al-Jabri, Halima Al-Shehhi, Maha Mohammed, Abeer Alsayegh\",\"doi\":\"10.18295/squmj.10.2024.052\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>This study aimed to investigate the relationship between consanguinity and the severity of autism spectrum disorder (ASD), a neurodevelopmental condition influenced by both genetic and environmental factors.</p><p><strong>Methods: </strong>This retrospective study, conducted at the Genetic & Developmental Medicine Clinic at Sultan Qaboos University Hospital (SQUH), Muscat, Oman, examined the records of 139 children aged 1.5 to 14 years who were diagnosed with ASD between June 2011 and May 2024. The study analysed the correlation between consanguinity, homozygosity and ASD severity.</p><p><strong>Results: </strong>Of the 139 cases evaluated, 74.1% were male, with an average age of diagnosis of 4.5 ± 2 years. Most ASD cases were classified at severity levels 2 (63.3%) and 3 (35.3%). Consanguinity was reported in 59% of the cases, with a mean homozygosity rate of 4.6%. No significant correlation was found between consanguinity or homozygosity rates and ASD severity.</p><p><strong>Conclusions: </strong>No significant association was found between consanguinity or homozygosity rates and ASD severity. Further research is necessary to explore the genetic mechanisms underlying ASD in consanguineous populations.</p>\",\"PeriodicalId\":22083,\"journal\":{\"name\":\"Sultan Qaboos University Medical Journal\",\"volume\":\"25 1\",\"pages\":\"114-121\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-05-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12255345/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Sultan Qaboos University Medical Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.18295/squmj.10.2024.052\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Sultan Qaboos University Medical Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.18295/squmj.10.2024.052","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
Consanguinity: The innocent culprit in autism severity.
Objectives: This study aimed to investigate the relationship between consanguinity and the severity of autism spectrum disorder (ASD), a neurodevelopmental condition influenced by both genetic and environmental factors.
Methods: This retrospective study, conducted at the Genetic & Developmental Medicine Clinic at Sultan Qaboos University Hospital (SQUH), Muscat, Oman, examined the records of 139 children aged 1.5 to 14 years who were diagnosed with ASD between June 2011 and May 2024. The study analysed the correlation between consanguinity, homozygosity and ASD severity.
Results: Of the 139 cases evaluated, 74.1% were male, with an average age of diagnosis of 4.5 ± 2 years. Most ASD cases were classified at severity levels 2 (63.3%) and 3 (35.3%). Consanguinity was reported in 59% of the cases, with a mean homozygosity rate of 4.6%. No significant correlation was found between consanguinity or homozygosity rates and ASD severity.
Conclusions: No significant association was found between consanguinity or homozygosity rates and ASD severity. Further research is necessary to explore the genetic mechanisms underlying ASD in consanguineous populations.