Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey

Özaslan, Ahmet; Kayhan, Gülsüm; İşeri, Elvan; Ergün, Mehmet Ali; Güney, Esra; Perçin, Ferda Emriye

doi:10.1007/s11033-021-06745-8

Cited by 3 publications

(2 citation statements)

References 44 publications

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“…The first was a 139 kb deletion in a case presented with craniorachischisis, cleft lip and palate, and bilateral adrenal hypoplasia (Chen et al 2013 ). The second was a de novo 209 kb duplication in a Turkish individual with ASD (Özaslan et al 2021 ). Regarding rare sequence-level variants, a heterozygous frameshift variant, NM_019619.4(PARD3): c.1012dupG (p.Glu338GlyfsTer26), was identified in six patients from a Chinese family manifesting nonsyndromic isolated cleft palate.…”

Section: Discussionmentioning

confidence: 99%

“…S3). Pathogenic variants in CHD3 show variable expressivity in Snijders Blok–Campeau syndrome (OMIM 618205), while PARD3 was associated before with neural tube defects, cleft lip, cleft palate, ASD, and bilateral adrenal hypoplasia (Chen et al 2013 ; Cui et al 2022 ; Özaslan et al 2021 ; van der Spek et al 2022 ). The variant in CHD3 was a predicted splice-site variant, and we did not functionally validate its effect.…”

Section: Discussionmentioning

confidence: 99%

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Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder

Yahia,

Li,

Lejerkrans

et al. 2024

Hum. Genet.

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Developmental language disorder (DLD) overlaps clinically, genetically, and pathologically with other neurodevelopmental disorders (NDD), corroborating the concept of the NDD continuum. There is a lack of studies to understand the whole genetic spectrum in individuals with DLD. Previously, we recruited 61 probands with severe DLD from 59 families and examined 59 of them and their families using microarray genotyping with a 6.8% diagnostic yield. Herein, we investigated 53 of those probands using whole exome sequencing (WES). Additionally, we used polygenic risk scores (PRS) to understand the within family enrichment of neurodevelopmental difficulties and examine the associations between the results of language-related tests in the probands and language-related PRS. We identified clinically significant variants in four probands, resulting in a 7.5% (4/53) molecular diagnostic yield. Those variants were in PAK2, MED13, PLCB4, and TNRC6B. We also prioritized additional variants for future studies for their role in DLD, including high-impact variants in PARD3 and DIP2C. PRS did not explain the aggregation of neurodevelopmental difficulties in these families. We did not detect significant associations between the language-related tests and language-related PRS. Our results support using WES as the first-tier genetic test for DLD as it can identify monogenic DLD forms. Large-scale sequencing studies for DLD are needed to identify new genes and investigate the polygenic contribution to the condition.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder

Yahia,

Li,

Lejerkrans

et al. 2024

Hum. Genet.

View full text Add to dashboard Cite

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Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings

Akkus,

Cubuk

2024

Mol Biol Rep

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Caregivers of Children with Autism Spectrum Disorders: The Role of Guilt Sensitivity and Support

Rizzo,

Sorrenti,

Commendatore

et al. 2024

JCM

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Background/Objectives: Burden Syndrome, also known as Caregiver Syndrome, particularly affects those who serve in the role of informal caregiver in the presence of family members with conditions. The ABCX dual model examines the impact on the caregiver of the diagnosis of autism spectrum disorder (ASD) on the family. This model considers the severity of the stressor (A), the additional demands of life stress (aA), the family’s internal resources (B), the family’s external resources (bB), the family’s assessment of the situation (C), coping strategies (cC), and outcome (X). The purpose of the present study is to investigate the relationships between resilience, guilt, and burden of care in caregivers of children with ASD. Methods: Various assessment instruments were used, including the “Caregiver Burden Inventory” to measure burden, the “Brief Resilience Scale” to assess resilience, the “Guilt Sensitivity Questionnaire” to examine guilt sensitivity, and the “DA.L.I.A.” to collect information on parent and child characteristics. A total of 80 parents/caregivers participated in the research, including 53 women (Age M = 41.72; SD = 7.8) and 27 men (Age M = 43.35; SD = 6.29). Results: The findings indicate that individuals’ resilience to stressful events correlates negatively with burden, a developmental subtype. However, guilt seems not to play a significant role in the overall perception of burden. In contrast, it was found that the use of informal supports is associated with higher levels of guilt and emotional burden, whereas the use of formal supports is correlated with higher emotional burden, but not higher perceptions of guilt. Conclusions: This study provides important information about the support needed by caregivers and suggests how to address emotional burdens to prevent burnout and support families with children with ASD.

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Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey

Cited by 3 publications

References 44 publications

Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder

Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder

Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings

Caregivers of Children with Autism Spectrum Disorders: The Role of Guilt Sensitivity and Support

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