NRXN1 (2p16.3) is essential for synaptic function and has been implicated in autism spectrum disorder (ASD) and other neurodevelopmental disorders. However, the phenotypic features associated with NRXN1 copy number variants remains incompletely characterised, which complicates risk assessment in genetic counselling. Th …
Objectives: This study aimed to examine the knowledge of Omani women of childbearing age concerning infant developmental care. Methods: This cross-sectional study included 1,006 Omani women of childbearing age, recruited from outpatient clinics at Sultan Qaboos University Hospital (response rate = 71%). Their knowledge …
The duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the region of duplication. We report a case of de novo duplication of chromosomal region 7p21.1p22.2 in a three-year-old male child with autism who presented to the Sultan Qaboos University Hospital …
Objectives: Parenteral nutrition-associated cholestasis (PNAC) is one of the most challenging complications of prolonged parenteral nutrition (PN) in neonates. There is a lack of research investigating its incidence in newborn infants in Oman and the Arab region. Therefore, this study aimed to assess the incidence of P …
Objectives: This study aimed to provide an updated estimate of the prevalence of autism spectrum disorder (ASD) among Omani children. Methods: This retrospective descriptive study was conducted from December 2011 to December 2018. Data were retrieved from the three main autism diagnostic centres in Oman: Sultan Qaboos …
Objective: This study aimed at evaluating advanced parental age as a risk factor for Autism Spectrum Disorder (ASD) in an Omani cohort. Methods: Case-control study of 278 ASD cases compared with 722 sex-matched controls retrieved from the electronic records of the Developmental Paediatric Clinic, Sultan Qaboos Universi …
Objectives: This study aimed to explore the intelligence quotient (IQ) profile among children with autism spectrum disorder (ASD) and identify the most important subscales that predict the IQ. The analysis of an intellectual profile with age and gender differentials and the identification of a battery of subscales of i …
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 Sulta …