Objective: Language disorder, a prevalent developmental disorder, impedes children’s communication skills, with genetic and environmental factors playing pivotal roles in its pathomechanism. This study aims to investigate the involvement of sequence variations in SETBP1 and CNTNAP2 genes, along with environmental variables, in language disorder’s etiology. Methods: Between September 2022 and March 2023, thirty children aged 2−7 diagnosed with language disorders according to DSM-5 criteria, and evaluated using the Ankara Developmental Screening Inventory, were studied to identify genetic and environmental factors contributing to etiology.Thirty healthy children with similar age were included as a control group. DNA samples isolated from peripheral blood of both groups were analyzed for SETBP1 and CNTNAP2 genes using next-generation sequencing (custom design panel). The frequencies and clinical significance of the identified variants was evaluated, and variant verification and segregation analyses were performed by Sanger sequencing. The obtained data were compared using appropriate statistical methods. Results: Language disorder showed a male-dominant distribution. The SETBP1 rs11082414-CC genotype frequency was significantly higher in patients (p = 0.024), and two rare variants (CNTNAP2: c.973C＞G:p.P325A; CNTNAP2: c.2236 G＞A:p.D746N) were exclusive to cases. In silico analyses yielded conflicting results for rare variants, inherited paternally from unaffected parents. Among non-genetic factors, patients had higher birth weights (p = 0.043) and shorter lactation durations (p = 0.044). Conclusion Homozygosity for SETBP1 rs11082414 polymorphic variant increases language disorder susceptibility. This study underscores the genetic dimension of language disorder, urging physicians’ awareness and early intervention strategies to mitigate its impact.

Objective: Language disorder, a prevalent developmental disorder, impedes children’s communication skills, with genetic and environmental factors playing pivotal roles in its pathomechanism. This study aims to investigate the involvement of sequence variations in SETBP1 and CNTNAP2 genes, along with environmental variables, in language disorder’s etiology. Methods: Between September 2022 and March 2023, thirty children aged 2−7 diagnosed with language disorders according to DSM-5 criteria, and evaluated using the Ankara Developmental Screening Inventory, were studied to identify genetic and environmental factors contributing to etiology.Thirty healthy children with similar age were included as a control group. DNA samples isolated from peripheral blood of both groups were analyzed for SETBP1 and CNTNAP2 genes using next-generation sequencing (custom design panel). The frequencies and clinical significance of the identified variants was evaluated, and variant verification and segregation analyses were performed by Sanger sequencing. The obtained data were compared using appropriate statistical methods. Results: Language disorder showed a male-dominant distribution. The SETBP1 rs11082414-CC genotype frequency was significantly higher in patients (p = 0.024), and two rare variants (CNTNAP2: c.973C＞G:p.P325A; CNTNAP2: c.2236 G＞A:p.D746N) were exclusive to cases. In silico analyses yielded conflicting results for rare variants, inherited paternally from unaffected parents. Among non-genetic factors, patients had higher birth weights (p = 0.043) and shorter lactation durations (p = 0.044). Conclusion Homozygosity for SETBP1 rs11082414 polymorphic variant increases language disorder susceptibility. This study underscores the genetic dimension of language disorder, urging physicians’ awareness and early intervention strategies to mitigate its impact.

Objective: Language disorder, a prevalent developmental disorder, impedes children’s communication skills, with genetic and environmental factors playing pivotal roles in its pathomechanism. This study aims to investigate the involvement of sequence variations in SETBP1 and CNTNAP2 genes, along with environmental variables, in language disorder’s etiology. Methods: Between September 2022 and March 2023, thirty children aged 2−7 diagnosed with language disorders according to DSM-5 criteria, and evaluated using the Ankara Developmental Screening Inventory, were studied to identify genetic and environmental factors contributing to etiology.Thirty healthy children with similar age were included as a control group. DNA samples isolated from peripheral blood of both groups were analyzed for SETBP1 and CNTNAP2 genes using next-generation sequencing (custom design panel). The frequencies and clinical significance of the identified variants was evaluated, and variant verification and segregation analyses were performed by Sanger sequencing. The obtained data were compared using appropriate statistical methods. Results: Language disorder showed a male-dominant distribution. The SETBP1 rs11082414-CC genotype frequency was significantly higher in patients (p = 0.024), and two rare variants (CNTNAP2: c.973C＞G:p.P325A; CNTNAP2: c.2236 G＞A:p.D746N) were exclusive to cases. In silico analyses yielded conflicting results for rare variants, inherited paternally from unaffected parents. Among non-genetic factors, patients had higher birth weights (p = 0.043) and shorter lactation durations (p = 0.044). Conclusion Homozygosity for SETBP1 rs11082414 polymorphic variant increases language disorder susceptibility. This study underscores the genetic dimension of language disorder, urging physicians’ awareness and early intervention strategies to mitigate its impact.

Objective: Language disorder, a prevalent developmental disorder, impedes children’s communication skills, with genetic and environmental factors playing pivotal roles in its pathomechanism. This study aims to investigate the involvement of sequence variations in SETBP1 and CNTNAP2 genes, along with environmental variables, in language disorder’s etiology. Methods: Between September 2022 and March 2023, thirty children aged 2−7 diagnosed with language disorders according to DSM-5 criteria, and evaluated using the Ankara Developmental Screening Inventory, were studied to identify genetic and environmental factors contributing to etiology.Thirty healthy children with similar age were included as a control group. DNA samples isolated from peripheral blood of both groups were analyzed for SETBP1 and CNTNAP2 genes using next-generation sequencing (custom design panel). The frequencies and clinical significance of the identified variants was evaluated, and variant verification and segregation analyses were performed by Sanger sequencing. The obtained data were compared using appropriate statistical methods. Results: Language disorder showed a male-dominant distribution. The SETBP1 rs11082414-CC genotype frequency was significantly higher in patients (p = 0.024), and two rare variants (CNTNAP2: c.973C＞G:p.P325A; CNTNAP2: c.2236 G＞A:p.D746N) were exclusive to cases. In silico analyses yielded conflicting results for rare variants, inherited paternally from unaffected parents. Among non-genetic factors, patients had higher birth weights (p = 0.043) and shorter lactation durations (p = 0.044). Conclusion Homozygosity for SETBP1 rs11082414 polymorphic variant increases language disorder susceptibility. This study underscores the genetic dimension of language disorder, urging physicians’ awareness and early intervention strategies to mitigate its impact.

Objective: The present study aims to compare the levels of 7 microRNAs (mi-RNAs) (mi-RNA-125b, mi-RNA-23a-3p, mi-RNA-146a-5p, mi-RNA-106a, mi-RNA-151a-3p, mi-RNA-28, mi-RNA-125a) in the blood of the preschool children with autism and those of their siblings with healthy controls, and to investigate the association between these mi-RNAs and the severity of autism, behavioral problems, and siblings’ autistic traits. Methods: A total of 35 children diagnosed with autism spectrum disorder (ASD) at the ages of 18−60 months (patient group), 35 non-affected siblings of the ASD group (sibling group), and 30 control subjects (control group) were involved in the study. The severity of ASD was measured using the Childhood Autism Rating Scale and the Autism Behavior Checklist (ABC). The behavioral problems of the children with ASD were assessed with the Aberrant Behavior Checklist, and the autistic traits of the siblings were assessed using the Autism spectrum screening scale for children. Results: mi-RNA-106a-5p, mi-RNA-151a-3p, and mi-RNA-28-3p were found to be expressed significantly lower in the patient group compared to the control group. There was a significant positive correlation between mi-RNA-23a and the sensory subscale of the ABC. mi-RNA-151a was significantly associated with sound sensitivity and mi-RNA-28 with echolalia. After controlling for age and sex, the differences between groups were disappeared. Conclusion The present study examined mi-RNAs that have been reported as biomarkers in the literature. Although several symptom clusters are found to be related to certain mi-RNA expression levels, they were not found to be significant in discriminating the patient and healthy groups.