Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders

Łaczmańska, Izabela; Stembalska, Agnieszka; Złocińska, Magdalena; Kozłowska, Joanna; Skiba, Paweł; Pesz, Karolina; Ślężak, Ryszard; Śmigiel, Robert; Jakubiak, Aleksandra; Misiak, Błażej; Sąsiadek, Maria M.

doi:10.17219/acem/112609

Cited by 2 publications

(2 citation statements)

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“…However, in this study, one fetus with ARSA showed 17p12p11.2 microduplication. Similarly, microduplication of 16p11.2 comprising ATXN2L, TUFM, SH2B1, and ATP2A1 genes can lead to the onset of microcephaly and autism spectrum disorder (33). No relevant research is available on the relationship between 16p11.2 microduplication and ARSA.…”

Section: Discussionmentioning

confidence: 99%

Fetal Aberrant Right Subclavian Artery: Associated Anomalies, Genetic Etiology, and Postnatal Outcomes in a Retrospective Cohort Study

et al. 2022

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BackgroundAberrant right subclavian artery (ARSA) is becoming increasingly common in fetuses. However, there are relatively fewer studies regarding the genetic etiology of ARSA. We performed a genetic analysis of fetuses with ARSA and followed up on the pregnancy outcomes to evaluate the prognosis of the fetuses, providing information for prenatal and eugenic consultations.MethodsThis retrospective study included 112 pregnant females whose fetuses were diagnosed with ARSA from December 2016 to February 2021. Fetal karyotype analysis and single-nucleotide polymorphism (SNP) array were performed.ResultsThe 112 fetuses were divided into two groups: the isolated ARSA group (n = 48, 42.9%) and the non-isolated ARSA group (ARSA with other ultrasound abnormalities, n = 64, 57.1%). The total rate of pathogenic copy number variation (CNV) observed using karyotype analysis (3/8) and SNP array (5/8) was 7.1% (8/112). The rates of pathogenic CNV in the isolated and non-isolated ARSA groups were 4.2% (2/48) and 9.4% (6/64), respectively. No significant difference was observed between the two groups (P = 0.463). The results of genetic analysis influenced the parents’ decision to terminate the pregnancy. During the follow-up examination, fetuses with ARSA without pathogenic CNV were found to have normal growth and development after birth.ConclusionFetuses with isolated ARSA have a low probability of being diagnosed with pathogenic CNV. However, when ARSA is complicated with other ultrasound abnormalities, the risk of pathogenic CNV remarkably increases. Prenatal genetic counseling and SNP-array should be recommended for better assessment of fetal prognosis.

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Section: Discussionmentioning

confidence: 99%

Fetal Aberrant Right Subclavian Artery: Associated Anomalies, Genetic Etiology, and Postnatal Outcomes in a Retrospective Cohort Study

et al. 2022

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“…This is another justification for the selection of the comparator group, because IBD, also infections with Salmonella, E. coli, H. pylori, and C. difficile (apart from parasitic infections, which are frequent in children), cause hypereosinophilia (Rogowska, 2012;Raffaele et al, 2021). Bearing in mind that the cause-and-effect chain in life sciences is neither one-way nor linear (Boem and Amedei, 2019), in addition to genetic factors that may rudiment this group of disorders (de la Torre-Ubieta et al, 2016;Feliciano et al, 2019;Łaczman´ska et al, 2020), environmental factors such as gut microbiota seems to be relevant (Pulikkan et al, 2019). Therefore, there is a hope that the GI symptoms can be eliminated if we know their cause.…”

Section: Gastrointestinal Disorders In Asdmentioning

confidence: 99%

Future Directions in Reducing Gastrointestinal Disorders in Children With ASD Using Fecal Microbiota Transplantation

Żebrowska

Łaczmańska

Łaczmański

2021

Front. Cell. Infect. Microbiol.

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Research on the use of fecal microbiota transplantation (FMT) in the treatment of disorders related to digestive system ailments in children with autism spectrum disorders (ASDs) is a new attempt in a therapeutic approach. There are very little scientific evidences available on this emerging alternative method. However, it appears to be interesting not only because of its primary outcome, relieving the gastrointestinal (GI) symptoms, but also secondary therapeutic effect of alleviating autistic behavioral symptoms. FMT seems to be also promising method in the treatment of another group of pediatric patients, children with inflammatory bowel disease (IBD). The aim of this study is to discuss the potential use of FMT and modified protocols (MTT, microbiota transfer therapy) in the treatment of GI disorders in ASD children supported by reports on another disease, IBD concerning pediatric patients. Due to the few reports of the use of FMT in the treatment of children, these two patients groups were selected, although suffering from distant health conditions: neurodevelopmental disorder and gastrointestinal tract diseases, because of the the fact that they seem related in aspects of the presence of GI symptoms, disturbed intestinal microbiota, unexplained etiology of the condition and age range of patients. Although the outcomes for all are promising, this type of therapy is still an under-researched topic, studies in the group of pediatric patients are sparse, also there is a high risk of transmission of infectious and noninfectious elements during the procedure and no long-term effects on global health are known. For those reasons all obtained results should be taken with a great caution. However, in the context of future therapeutic directions for GI observed in neurodevelopmental disorders and neurodegenerative diseases, the topic seems worthy of attention.

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Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders

Cited by 2 publications

References 14 publications

Fetal Aberrant Right Subclavian Artery: Associated Anomalies, Genetic Etiology, and Postnatal Outcomes in a Retrospective Cohort Study

Fetal Aberrant Right Subclavian Artery: Associated Anomalies, Genetic Etiology, and Postnatal Outcomes in a Retrospective Cohort Study

Future Directions in Reducing Gastrointestinal Disorders in Children With ASD Using Fecal Microbiota Transplantation

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