Corrigendum: The incidence and clinical characteristics of fragile X syndrome in China.

[This corrects the article DOI: 10.3389/fped.2023.1064104.].

The incidence and clinical characteristics of fragile X syndrome in China.

Introduction: Fragile X syndrome (FXS) is a X-linked neurodevelopmental disorder (NDD). This study aims to investigate the incidence of FXS in Chinese children and analyze the comprehensive clinical characteristics of these FXS children. Methods: Children diagnosed with idiopathic NDD were recruited between 2016 and 2021 from the department of Child Health Care, Children's Hospital of Fudan University. We combined tetraplet-primed PCR-capillary electrophoresis and whole exome sequencing (WES)/panel or array-based comparative genomic hybridization (array-CGH) to identify the size of the CGG repeats and the mutations or copy number variations (CNVs) in the genome and in FMR1. The clinical features of FXS children were analyzed according to pediatricians' recording, parental questionnaires, the results of examinations and follow-up. Results: The incidence of FXS in Chinese children with idiopathic NDD was 2.4% (42/1753) and in those with FXS, 2.38% had a deletion (1/42). Here, we present the clinical characteristics of 36 children with FXS. Overweight was observed in two boys. The average intelligence quotient (IQ)/development quotient (DQ) of all FXS patients was 48. The average ages of meaningful words and walking alone were 2 years and 10 months and 1 year and 7 months, respectively. The most frequent repetitive behavior was stimulated by hyperarousal to sensory stimulation. On social aspects, social withdrawal, social anxiety, and shyness accounted for 75%, 58%, and 56% of the total number of children, respectively. Approximately 60% of FXS children in this cohort were emotionally labile and prone to temper tantrums. Self-injury and aggression toward others could also be observed, at 19% and 28%, respectively. The most frequent behavioral problem was attention-deficit hyperactivity disorder (ADHD) seen in 64% and the most common facial features were a narrow and elongated face and large or prominent ears in 92% of patients. Discussion: Screening of FMR1 full mutation provides the possibility for patients' further medical supports and the clinical features of FXS children obtained in this study will increase the understanding and diagnosis of FXS.

Maternal anxiety during pregnancy and adverse birth outcomes: a systematic review and meta-analysis of prospective cohort studies.

BACKGROUND: Previous studies concerning the association between maternal anxiety during pregnancy and adverse birth outcomes have provided controversial findings. METHODS: In this systematic review, a meta-analysis was utilized to investigate the association between maternal anxiety and preterm birth (PTB) and/or low birth weight (LBW). Literature was searched until June 2013. Only prospective cohort studies that reported data on maternal anxiety during pregnancy with PTB and/or LBW were included. Pooled relative risks (RRs) with 95% confidence intervals (CIs) were calculated using fixed or random effects models depending on the size of heterogeneity. RESULTS: Twelve studies totaling 17,304 pregnant women reported PTB data; and six studies totaling 4948 pregnant women reported LBW data. Maternal anxiety during pregnancy was associated with significant increased risk of PTB (pooled RR=1.50, 95% CI=1.33-1.70) and LBW (pooled RR=1.76, 95% CI=1.32-2.33). LIMITATIONS: Potential moderators could not be adequately considered due to insufficient information. In addition, the effects of different types of anxiety disorder on the risk of these adverse birth outcomes could not be investigated. CONCLUSIONS: The results suggested that maternal anxiety during pregnancy was positively related to an increased risk of PTB and LBW. Healthcare providers should give close attention to anxiety in pregnant women and provide appropriate mental health support in order to improve outcomes for both mothers and infants.

A systematic review and quantitative assessment of sleep-disordered breathing during pregnancy and perinatal outcomes.

PURPOSE: Previous investigations have suggested a strong association between sleep-disordered breathing (SDB) during pregnancy and perinatal outcomes. However, the results of the following replication studies were not always concordant. Therefore, this meta-analysis was conducted to evaluate the more reliable estimate. METHODS: A systematic literature search was performed on PubMed, Springer Link, and EMBASE to identify all eligible studies published before August 2013. Summary odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using fixed or random effects model. RESULTS: A total of 24 publications met the inclusion criteria and were included in this meta-analysis. Findings demonstrated that moderate-to-severe SDB during pregnancy was associated with gestational diabetes mellitus (OR=1.78; 95% CI, 1.29 to 2.46), pregnancy-related hypertension (OR=2.38; 95% CI, 1.63 to 3.47), preeclampsia (OR=2.19; 95% CI, 1.71 to 2.80), preterm delivery (OR=1.98; 95% CI, 1.59 to 2.48), low birth weight (OR=1.75; 95% CI, 1.33 to 2.32), neonatal intensive care unit (NICU) admission (OR=2.43; 95% CI, 1.61 to 3.68), intrauterine growth restriction (OR=1.44; 95% CI, 1.22 to 1.71), and Apgar score of <7 at 1 min (OR=1.78; 95% CI, 1.10 to 2.91) based on all studies but not gestational age and birth weight. CONCLUSIONS: This meta-analysis revealed that moderate-to-severe SDB during pregnancy may be associated with most of adverse perinatal outcomes. Further well-designed studies are warranted to confirm our findings.