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      Correlation analysis of maternal condition during pregnancy with head circumference and autism spectrum disorder: A propensity score-matched study

      research-article
      , MD a , , MD b , * ,
      Medicine
      Lippincott Williams & Wilkins
      ASD, FA, macrocephaly, microcephaly

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          Abstract

          To determine whether health status during pregnancy is associated with autism spectrum disorder (ASD) and abnormal head circumference (HC) in the offspring. This study included 41 Han children with ASD who visited the Children’s Health Clinic of the Second Hospital of Shandong University between March 2018 and February 2019, and 264 Han children with typical development (TD) who visited the clinic during the same period. Physical measurements were performed on the children. The questionnaire obtained information on maternal risk factors that may be related to the increased risk of ASD and folic acid (FA) supplementation. We designed an observational case–control study using propensity score matching and multivariate logistic regression analysis. The incidence of macrocephaly in the ASD group was 22.0%, significantly higher than that in the TD group (1.8%). The incidence of microcephaly in the ASD group was 17.1% (n = 7), significantly higher than that in the TD group (1.8%). The differences between the comparisons were statistically significant. Maternal FA supplementation during pregnancy was significantly associated with ASD ( P < .05), with an odds ratio (95% confidence interval of 3.69 (1.76, 7.76)). Also was associated with macrocephaly ( P < .05), odds ratio (95% confidence interval) were 8.13 (1.63, 40.61) and 4.16 (1.18, 14.60), respectively. The incidence of abnormal HC was higher in the ASD group than that in the TD group. Maternal FA supplementation during pregnancy may be negatively associated with the occurrence of ASD and abnormal HC in the offspring. Further examination of the role of maternal health status in the etiology of ASD is recommended.

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          Effects and safety of periconceptional oral folate supplementation for preventing birth defects

          Cochrane Database of Systematic Reviews
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            Malformations of cortical development: clinical features and genetic causes.

            Malformations of cortical development are common causes of developmental delay and epilepsy. Some patients have early, severe neurological impairment, but others have epilepsy or unexpected deficits that are detectable only by screening. The rapid evolution of molecular biology, genetics, and imaging has resulted in a substantial increase in knowledge about the development of the cerebral cortex and the number and types of malformations reported. Genetic studies have identified several genes that might disrupt each of the main stages of cell proliferation and specification, neuronal migration, and late cortical organisation. Many of these malformations are caused by de-novo dominant or X-linked mutations occurring in sporadic cases. Genetic testing needs accurate assessment of imaging features, and familial distribution, if any, and can be straightforward in some disorders but requires a complex diagnostic algorithm in others. Because of substantial genotypic and phenotypic heterogeneity for most of these genes, a comprehensive analysis of clinical, imaging, and genetic data is needed to properly define these disorders. Exome sequencing and high-field MRI are rapidly modifying the classification of these disorders. Copyright © 2014 Elsevier Ltd. All rights reserved.
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              Head circumference and brain size in autism spectrum disorder: A systematic review and meta-analysis.

              Macrocephaly and brain overgrowth have been associated with autism spectrum disorder. We performed a systematic review and meta-analysis to provide an overall estimate of effect size and statistical significance for both head circumference and total brain volume in autism. Our literature search strategy identified 261 and 391 records, respectively; 27 studies defining percentages of macrocephalic patients and 44 structural brain imaging studies providing total brain volumes for patients and controls were included in our meta-analyses. Head circumference was significantly larger in autistic compared to control individuals, with 822/5225 (15.7%) autistic individuals displaying macrocephaly. Structural brain imaging studies measuring brain volume estimated effect size. The effect size is higher in low functioning autistics compared to high functioning and ASD individuals. Brain overgrowth was recorded in 142/1558 (9.1%) autistic patients. Finally, we found a significant interaction between age and total brain volume, resulting in larger head circumference and brain size during early childhood. Our results provide conclusive effect sizes and prevalence rates for macrocephaly and brain overgrowth in autism, confirm the variation of abnormal brain growth with age, and support the inclusion of this endophenotype in multi-biomarker diagnostic panels for clinical use.
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                Author and article information

                Contributors
                Journal
                Medicine (Baltimore)
                Medicine (Baltimore)
                MD
                Medicine
                Lippincott Williams & Wilkins (Hagerstown, MD )
                0025-7974
                1536-5964
                09 February 2024
                09 February 2024
                : 103
                : 6
                : e36104
                Affiliations
                [a ]Department of Burns and Plastic Surgery, The Second Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong Province, People’s Republic of China
                [b ]Department of Paediatrics, The Second Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong Province, People’s Republic of China.
                Author notes
                [* ] Correspondence: Shichun Zhao, Department of Paediatrics, The Second Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong Province 250000, People’s Republic of China (e-mail: zhsc1215@ 123456163.com ).
                Author information
                https://orcid.org/0000-0002-7033-0238
                Article
                00001
                10.1097/MD.0000000000036104
                10860991
                38335372
                4f5acf72-8d96-425d-a6ed-c76d31b67b3d
                Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

                This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 07 May 2023
                : 22 October 2023
                : 23 October 2023
                Categories
                6200
                Research Article
                Observational Study
                Custom metadata
                TRUE

                asd,fa,macrocephaly,microcephaly
                asd, fa, macrocephaly, microcephaly

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