Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population

Kourtian, Silva; Soueid, Jihane; Makhoul, Nadine J.; Guisso, Dikran R; Chahrour, Maria H.; Boustany, Rose Mary

doi:10.1038/srep45336

Cited by 9 publications

(3 citation statements)

References 54 publications

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“…The body of evidence on autism environmental factors in Lebanon is limited to one pilot case-control study [31]. A recent genetic study of the Lebanese population has identified new variants and susceptibility candidate genes that are specific to the Lebanese [32,33]. This is probably explained by high rates of consanguineous marriages and extensive shared ancestry in the Lebanese population, which further supports the importance of contextualized studies exploring factors associated with ASD.…”

Section: Introductionmentioning

confidence: 99%

National Prevalence and Correlates of Autism: A Lebanese Cross-Sectional Study

Saab¹,

Chaaya²,

Boustany³

2018

Autism Open Access

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Background: There is a lack of data regarding autism prevalence and factors associated with it in Arab Countries, especially in Lebanon. A study conducted in Beirut and Mount Lebanon governorates estimated the prevalence of Autism Spectrum Disorder (ASD) at 1.53% of children 16-48 months attending nurseries. This study aims at obtaining a total national ASD estimate and find factors associated with the disorder. Methods: The methodology used to collect data at a national level consisted of administering the Modified Checklist for Autism in Toddlers (M-CHAT) for screening and a self-administered questionnaire for associated factors. The final sample included 1,373 children aged 16-48 months. Prevalence estimates and crude and adjusted Odds Ratios (ORs) with 95% confidence intervals (95% CI) were generated. Results: ASD national prevalence is 1.48% with 95% CI (0.84, 2.12), with a 1.13 male/female ratio according to the M-CHAT. In the multivariable analysis, having an employed mother in the last year was protective against ASD (OR (95% CI): 0.36(0.14, 0.93)). Presence of delivery complications was a risk factor (3.58 (1.26, 10.15)). First/ second born and moral support during pregnancy were protective, whereas mother not having a university education and family history of mental illness were risk factors. These variables were not significant in the multivariable analysis, probably due to small numbers. Conclusion: This is the first study estimating ASD prevalence in the entire Lebanese population, a much needed step to know the magnitude of the disorder. More robust studies are needed to better understand this disorder and factors associated with it in Lebanon and the region that have distinct cultural/environmental characteristics.

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Section: Introductionmentioning

confidence: 99%

National Prevalence and Correlates of Autism: A Lebanese Cross-Sectional Study

Saab¹,

Chaaya²,

Boustany³

2018

Autism Open Access

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“…Patients were found to have changes in the number of chromosomes in separate cells, nucleotide substitutions in the structural genes, an abnormally changed gene copy number [ 46 – 49 ]. There was established the influence of parental age on the emergence of chromosome aberrations [ 50 , 51 ].…”

Section: Systemic Approaches To the Study Of Autism Spectrum Disordersmentioning

confidence: 99%

Molecular Mechanisms of Aberrant Neuroplasticity in Autism Spectrum Disorders (Review)

Anashkina¹,

Ерлыкина²

2021

Sovrem Tehnol Med

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This review presents the analysis and systematization of modern data on the molecular mechanisms of autism spectrum disorders (ASD) development. Polyetiology and the multifactorial nature of ASD have been proved. The attempt has been made to jointly review and systematize current hypotheses of ASD pathogenesis at the molecular level from the standpoint of aberrant brain plasticity. The mechanism of glutamate excitotoxicity formation, the effect of imbalance of neuroactive amino acids and their derivatives, neurotransmitters, and hormones on the ASD formation have been considered in detail. The strengths and weaknesses of the proposed hypotheses have been analyzed from the standpoint of evidence-based medicine. The conclusion has been drawn on the leading role of glutamate excitotoxicity as a biochemical mechanism of aberrant neuroplasticity accompanied by oxidative stress and mitochondrial dysfunction. The mechanism of aberrant neuroplasticity has also been traced at the critical moments of the nervous system development taking into account the influence of various factors of the internal and external environment. New approaches to searching for ASD molecular markers have been considered.

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“…Hundreds of genes have been linked to ASD [9]. Studies from this group have uncovered a number of candidate genes for ASD in the Lebanese population [10,11] and has validated novel gene defects [12]. This suggests that the genetics and, hence, the clinical phenotype of Lebanese ASD patients differs from descriptions from other countries.…”

Section: Introductionmentioning

confidence: 99%

Autism in Lebanon: Looking Back to Inform the Future

2024

Int J Autism & Relat Disabil

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Background: Autism Spectrum Disorder (ASD) is a group of neurodevelopmental disorders with delays in communication, restricted interests and repetitive behaviors. Although the phenotype of autism is global, risk factors and underlying genetics may be regionally defined. The aim of this study is elucidation of Lebanese ASD patient characteristics and comparison to the same in different populations. Methods:Retrospective chart review of children evaluated at the American University of Beirut Special Kids Clinic (ASKC) from January 2008-March 2022 was undertaken. Patients diagnosed from infancy to 18 years of age were included. Those with known genetic entities were excluded. Sex, age at diagnosis, presence of consanguinity, presence of prenatal/postnatal complications, a family history of autism or other psychiatric/neurological diseases, and birth order details were extracted and analyzed.Results: A total of 1,181 children were included in the analysis with 963 (81.5%) male and 218 (18.5%) female subjects with a male to female ratio of 4.4:1 compared to a ratio of 3.8:1 from the USA. Mean age at diagnosis was 48.0 ±27.4 months. Consanguinity accounted for 159 (16.4%) of parent pairs of affected individuals. Premature birth was present in 123 (12.7%) of cases. Prenatal complications occurred in 112 (11.1%) of subjects. First order birth was documented in 419 (44.8%) of ASD cases. Conclusion:This comprehensive study of ASD patient characteristics in Lebanon demonstrates that the ASD population is comparable with those reported from other countries with few notable exceptions.

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Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population

Cited by 9 publications

References 54 publications

National Prevalence and Correlates of Autism: A Lebanese Cross-Sectional Study

National Prevalence and Correlates of Autism: A Lebanese Cross-Sectional Study

Molecular Mechanisms of Aberrant Neuroplasticity in Autism Spectrum Disorders (Review)

Autism in Lebanon: Looking Back to Inform the Future

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