Consanguinity and Autism

Roy, Nikita; Ghaziuddin, Mohammad; Mohiuddin, Sarah

doi:10.1007/s11920-019-1124-y

Cited by 16 publications

(10 citation statements)

References 32 publications

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“…N et al consanguinity can increase the risk of autism spectrum disorders. 27 However, this could not be replicated in our study.…”

Section: Sociodemographic Variablescontrasting

confidence: 70%

Profile of Children suspected of ASD in a Tertiary Care Centre

Pratyusha¹,

Mandadi²

2022

TJIMA

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Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition seen in children during their early develop-mental phase where children lack in achieving age-appropriate skills or they are unable to meet the social demands due to limited capacities. It is characterised by impairments in social communication, interaction and presence of restrictive, repetitive interests/behaviours. Prevalence of ASD has increased in recent times which warrants for early identification and intervention. *The word Autism is used in this study to denote Autism Spectrum Disorders. Aim: To study the profile of children less than 5yrs of age specifically brought for suspicion of ASD by parents. Methodology: This is a cross sectional descriptive study conducted at Child Psychiatry Department of Asha Hospital for 1year with children less than 5yrs of age. 44 children with suspicion of ASD, brought by parents were evaluated through clinical inter-view using DSM-5, psychological tests- Developmental screening test, CARS-2(Childhood Autism Rating Scale), M-CHAT and CBCL. Results: Most children were between 3-5yrs of age (68.18%), were predominantly males (72.73%), 47.73% had significant prena-tal factors, 22.73% of mothers had preterm delivery, 27.27% had postnatal complications, 36.36% of children had Delayed mile-stones and 59.09% speech delay. The symptoms presented were, ‘poor/no’ response to name (90.90%), poor Eye-Eye contact (95.46%), poor socialisation (97.73%), stereotypic behaviour (81.18%) and sensory issues (52.27%). ADHD (54.54%) & intel-lectual disability (95.45%) were the common psychiatric comorbidity.18.18% children had mild autism and 15.90% children were at a risk of autism. Conclusions: The symptoms presented by parents for suspicion of autism were depicted to be either mild or risk of ASD on screening

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“…N et al consanguinity can increase the risk of autism spectrum disorders. 27 However, this could not be replicated in our study.…”

Section: Sociodemographic Variablescontrasting

confidence: 70%

Profile of Children suspected of ASD in a Tertiary Care Centre

Pratyusha¹,

Mandadi²

2022

TJIMA

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“…In addition, the relationship between ASD severity and exposure to stressors prenatally has not been studied in our region. The nature of the Saudi population with its high consanguineous marriages and unique genetic make-up makes it a perfect place for investigating the etiology of diseases with genetic predisposing factor (Roy et al, 2020;Sabbagh et al, 2014Sabbagh et al, , 2015Teebi & Teebi, 2005).…”

Section: Introductionmentioning

confidence: 99%

Prenatal maternal stress and the severity of autism spectrum disorder: A cross‐sectional study

Alamoudi

Al-Jabri

Alsulami

et al. 2023

Developmental Psychobiology

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Autism spectrum disorder (ASD) is a neurodevelopmental disorder linked to several genetic and environmental factors including antenatal stress. Hence, we aimed to examine whether a mother's stress during pregnancy is associated with the severity of autism spectrum disorder in children. The study was conducted with 459 mothers of children with autism (aged 2-14 years) who were attending rehabilitation and educational centers in the two major cities of Makkah and Jeddah in Saudi Arabia.Environmental factors, consanguinity, and ASD family history were assessed using a validated questionnaire. The Prenatal Life Events Scale questionnaire was used to assess whether the mothers were exposed to stress during pregnancy. Two models of ordinal regression analysis were conducted including gender, child age maternal age, parental age, maternal education, parental education, income nicotine exposure, mother taking medication during pregnancy, family history of ASD, gestation, consanguinity, exposure of prenatal life events (in model 1), and severity of prenatal life events (in model 2). Family history of ASD showed a statistically significant association with the severity of ASD in both regression models (p = .015, odds ratio [OR]: 4.261 in Model 1, and p = .014, OR: 4.901 in model 2). In model 2, the moderate severity prenatal life events showed higher statistically significant adjusted odds ratio for ASD severity compared to no stress (p = .031; OR: 3.82). Within the limitations of this study, prenatal stressors showed some potential contribution to ASD severity. Family history of ASD was the only factor that showed a persistent association with ASD severity. A study that assesses the effect of COVID-19 stress on ASD prevalence and severity is recommended.

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“…The study found a high rate of consanguinity (36.66% and 40%) in both the ASD and control populations of Iraqi Arabs. The risk of producing offspring with ASD increases from blood-related marriages [ 24 ]. While consanguinity occurs in an estimated 10.4% of the global population [ 25 ], Arabs have the highest rates, approaching 60% in Iraq [ 26 ].…”

Section: Discussionmentioning

confidence: 99%

SNP-PCR genotyping links alterations in the GABAA receptor (GABRG3: rs208129) and RELN (rs73670) genes to autism spectrum disorder among peadiatric Iraqi Arabs

et al. 2022

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Introduction Autism spectrum disorder (ASD) is an increasing concern among the Iraqi Arab population. The genetic alterations that cause ASD are likely to converge at the synapse. This study investigated polymorphisms in the GABAA receptor subunit (GABRG3) and the RELN gene as putative biomarkers of ASD in a pediatric population in Iraq. Methods The case control study included 60 patients with a clinical diagnosis of ASD (mild, moderate, or severe) according to DSM-IV criteria and matched healthy controls (n = 60). Blood samples were collected for DNA genotyping of SNPs rs736707 and rs208129 for RELN and GABRG3 using allele specific PCR. Assessment of genotype and allele distributions in patient groups used odd ratios (OR) with 95% confidence intervals and the Chi-square test. All statistical analysis was performed used SPSS software. Result The patient cohort was highly consanguineous, with increased ratio (p > 0.05) of males to females (3:1) in both ASD (mean age, 6.66 ± 3.05) and controls (mean age, 5.76 ± 2.3). Both GABRG3 rs208129 genotypes TT (OR 4.33, p = 0.0015) and TA (OR 0.259, P = 0.008), and the T and A alleles were significantly associated with ASD. The RELN rs736707 TC genotype (OR 2.626, P = 0.034) was the only significant association with ASD. Conclusion GABRG3 SNP rs208129 is a leading biomarker to predict genetic vulnerability to ASD in Iraqi Arabs. Expanded SNP panels and increased sample sizes are required for future GABRG3 studies, and to reach a consensus on RELN utility. Future ASD screening programs in Iraq should include genetic metrics in addition to clinical phenotype assessments.

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Consanguinity and Autism

Cited by 16 publications

References 32 publications

Profile of Children suspected of ASD in a Tertiary Care Centre

Profile of Children suspected of ASD in a Tertiary Care Centre

Prenatal maternal stress and the severity of autism spectrum disorder: A cross‐sectional study

SNP-PCR genotyping links alterations in the GABAA receptor (GABRG3: rs208129) and RELN (rs73670) genes to autism spectrum disorder among peadiatric Iraqi Arabs

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