Additive interaction between birth asphyxia and febrile seizures on autism spectrum disorder: a population-based study.

BACKGROUND: Autism Spectrum Disorder (ASD) is a pervasive neurodevelopmental disorder that can significantly impact an individual's ability to socially integrate and adapt. It's crucial to identify key factors associated with ASD. Recent studies link both birth asphyxia (BA) and febrile seizures (FS) separately to higher ASD prevalence. However, investigations into the interplay of BA and FS and its relationship with ASD are yet to be conducted. The present study mainly focuses on exploring the interactive effect between BA and FS in the context of ASD. METHODS: Utilizing a multi-stage stratified cluster sampling, we initially recruited 84,934 Shanghai children aged 3-12 years old from June 2014 to June 2015, ultimately including 74,251 post-exclusion criteria. A logistic regression model was conducted to estimate the interaction effect after controlling for pertinent covariates. The attributable proportion (AP), the relative excess risk due to interaction (RERI), the synergy index (SI), and multiplicative-scale interaction were computed to determine the interaction effect. RESULTS: Among a total of 74,251 children, 192 (0.26%) were diagnosed with ASD. The adjusted odds ratio for ASD in children with BA alone was 3.82 (95% confidence interval [CI] 2.42-6.02), for FS alone 3.06 (95%CI 1.48-6.31), and for comorbid BA and FS 21.18 (95%CI 9.10-49.30), versus children without BA or FS. The additive interaction between BA and FS showed statistical significance (P < 0.001), whereas the multiplicative interaction was statistically insignificant (P > 0.05). LIMITATIONS: This study can only demonstrate the relationship between the interaction of BA and FS with ASD but cannot prove causation. Animal brain experimentation is necessary to unravel its neural mechanisms. A larger sample size, ongoing monitoring, and detailed FS classification are needed for confirming BA-FS interaction in ASD. CONCLUSION: In this extensive cross-sectional study, both BA and FS were significantly linked to ASD. The coexistence of these factors was associated with an additive increase in ASD prevalence, surpassing the cumulative risk of each individual factor.

Effects of short-term quarantine on growth and development of children aged 1-36 months during the Omicron outbreak.

Consequences of epidemic quarantine on children's well-being are not clear and there are scarce data about the short-term impact of epidemic quarantine on children's growth and development. The study aimed to explore and analyze the potential impacts of the Omicron outbreak on children's growth and development during the lockdown in Shanghai, China. Totally, 4565 children aged 1-36 months who had a routine physical examination in the child health departments of hospitals before (June 1, 2021, to July 6, 2021) and after (June 1, 2022, to July 6, 2022) Shanghai's lockdown were included in this study. A population-based cross-sectional study was conducted by using the Infant Toddler Growth Development Screening Test (ITGDST). The children's growth and development in these two periods were compared with a propensity score matching (PSM) approach. After 1:1 matching, a total of 2462 children aged 1-36 months were analyzed. After PSM, there was no significant difference in terms of overall development, gross motor, fine motor, and language development for children before and after the Omicron lockdown. However, statistically significant decrease of wasting was observed for children after the lockdown (p < 0.05). Further interaction analysis indicated older age group (OR = 0.26, 95% CI 0.11-0.59) and the group of second parity (OR = 0.30, 95% CI 0.11-0.83) were favorable to language development during the lockdown.  Conclusion: Short-term quarantine had no significant adverse, but rather beneficial, effects on growth and development of children aged 1-36 months during the Omicron epidemic in Shanghai, China. What is Known: • Consequences of epidemic quarantine on children's well-being are not clear. Long-term psychological effects of coronavirus disease 2019 pandemic on children have been reported. However, there are scarce data about the short-term impact of epidemic quarantine on children's growth and development. What is New: • Short-term quarantine had no significant adverse, but rather beneficial, effects on growth and development of children aged 1-36 months during the Omicron epidemic in Shanghai, China.

Association of perinatal factors with suspected developmental delay in urban children aged 1-36 months - a large-scale cross-sectional study in China.

BACKGROUND: Studies on perinatal risk factors and the developmental delay of children have been inconclusive and few studies have assessed the association between infants and toddlers' body mass index (BMI) and developmental outcomes. METHODS: We conducted a cross-sectional study of children aged 1-36 months who had a routine physical examination in the child health departments of hospitals from March 2018 to November 2021 in 16 provinces, 4 autonomous regions and 2 municipalities directly under the central government by using the Infant Toddler Growth Development Screening Test (ITGDST). Normal children were defined as those with scores ≥ mean - 2 standard deviations (SD), while children with developmental delay were those with scores < mean-2SD in terms of overall development, gross motor, fine motor and language development. Binary logistic regression was used to analyze the risk factors of gross motor, fine motor, language and overall neurodevelopment. RESULTS: After removing some provinces with a small sample size and children with incomplete data, 178,235 children with 12 complete variables were included in the final analysis. The rate of overall developmental delay was 4.5%, while 12.5% of children had at least one developmental delay aspect. Boys, parity, advanced maternal age, multiple birth, cesarean section, neonatal injury, family heredity history, microcephaly, abnormal BMI at birth and at physical examination after controlling the confounding of other factors had a significant effect on development delay (overall neurodevelopment, gross motor, fine motor or language development). Per capita gross domestic product was a protective factor for the children's neuropsychological development. CONCLUSIONS: This study reveals significant associations of perinatal factors and BMI with developmental delay in the Chinese children aged 1-36 months, which may be crucial for early intervention.

Risk factors for ASD : Risk Factors for Autism Spectrum Disorder in Shanghai, China: A Population-based Case-control Study.

Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder that brings heavy burdens to families and the society. This case-control study explored risk factors for ASD based on 74,252 children aged 3-12 years who were recruited from general education kindergartens, primary schools, and special education schools in Shanghai, China. One hundred ninety-two children were identified with ASD according to the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition. Male sex, the presence of anoxia or asphyxia at birth, artificial feeding, adverse maternal psychological status, complications during pregnancy and higher paternal education were associated with ASD even after controlling for age, residential district, family history of mental disorders, parental personality, and amount of daily TV viewing.

Analysis of Risk Factors and Surgical Strategy of Knee Traumatic Arthritis after Internal Plate Fixation in the Treatment of Tibial Plateau Fracture.

Objective: To explore the risk factors and surgical strategies of knee traumatic arthritis after internal plate fixation in the treatment of tibial plateau fracture. Methods: A total of 300 patients with tibial plateau fractures treated with internal plate fixation in our hospital from January 2019 to April 2021 were retrospectively analyzed. According to whether secondary knee traumatic arthritis occurred after operation, they were divided into control group and research group. The control group was nonsecondary knee traumatic arthritis (n = 231), and the research group was secondary knee traumatic arthritis (n = 69). Univariate and multivariate logistic regression analysis was used in this research. Results: There were significant differences in fracture classification, injury method, osteoporosis, and the time from injury to operation between the two groups, and there are statistically significant differences between groups (P < 0.05). Fracture type, injury method, osteoporosis, and time from injury to operation were the influencing factors of tibial internal fixation, and there are statistically significant differences between groups (P < 0.05). Platform fracture was an independent risk factor for postoperative knee joint traumatic arthritis, and there are statistically significant differences between groups (P < 0.05). The HSS scores of both groups increased after operation, and there are statistically significant differences between groups (P < 0.05). No loosening of the prosthesis was found in all 69 patients with postoperative X-ray examination. Conclusion: Fracture classification, injury mode, osteoporosis, and time from injury to operation are independent risk factors for knee traumatic arthritis in the treatment of tibial plateau fractures with internal plate fixation, incidence of knee trauma.

Abnormal body mass index may be related to poor social function of female children by a propensity score matching analysis.

This study sought to estimate the association of children's body mass index (BMI) with their social function in Shanghai China. A large population-based cross-sectional study based on a propensity score matching (PSM) analysis was conducted. BMI was compared according to social communication questionnaire (SCQ) classification, and then SCQ score was compared in terms of BMI grouping before and after PSM. A positive SCQ was considered to indicate poor social communication and a negative SCQ was then supposed to be normal. After 1:3 matching, a total of 7563 children aged 3-12 years were included in analysis. There were statistically significant positive correlation of BMI with SCQ scores for obese females of school age (R2 = 0.043, p < 0.001) and negative correlation of these two variables for school-aged females with malnutrition (R2 = 0.047, p = 0.027). In conclusion, BMI may be characterized as one of predictive factor for poor social function of these children.

Functional connectivity of thalamus in children with primary nocturnal enuresis: results from a resting-state fMRI study.

Primary nocturnal enuresis (PNE) is characterized by a low cure rate and a high reoccurrence rate, since its underlying mechanism remains unclear. Based on the recent studies that thalamus plays an important role in waking up a sleeping person, here we further investigate the functional connectivity (FC) information between thalamus and other brain regions, in order to make better understanding of the PNE's pathogenesis. In this study, we enrolled 30 children diagnosed with PNE and 30 typically developing children that are age and sex matched, the thalamus-based FC estimates were extracted at the resting-state. Experiments showed that for children with PNE, there were four brain regions found with a reduced connection efficiency with thalamus, that were cerebellum posterior lobe, frontal lobe, parietal lobe and precentral gyrus. It can be concluded that these relevant regions might induce an arousal disorder, and therefore further lead to PNE. This finding also provides a new insight in the pathophysiology of PNE.

Association of number of siblings, birth order, and thinness in 3- to 12-year-old children: a population-based cross-sectional study in Shanghai, China.

BACKGROUND: Sibship size and structure have a significant association with overweight and obesity in children, but the relationship with thinness has not been fully studied and understood, especially in Asia. This study evaluated the associations among number of siblings, birth order, and childhood thinness and investigated the association of number of younger or older siblings with childhood thinness. METHODS: In this study, we performed a population-based cross-sectional study among 84,075 3- to 12-year-old children in Shanghai using multistage stratified cluster random sampling. We defined grades 1, 2, and 3 thinness according to the body mass index cutoff points set by the International Obesity Task Force and used multinomial logistic regression models to estimate the odds ratio (OR) and 95% confidence interval (95% CI). RESULTS: Compared with only children, for boys, children with two or more siblings were more likely to suffer from grade 2 (OR = 1.29, 95% CI 1.02, 1.64) and grade 3 thinness (OR = 1.60, 95% CI 1.07, 2.40); and the youngest child faced a higher risk of grade 2 (OR = 1.44, 95% CI 1.09, 1.90) and grade 3 thinness (OR = 1.53, 95% CI 1.01, 2.33). For girls, children with one sibling were more likely to suffer from grade 1 thinness (OR = 1.22, 95% CI 1.05, 1.42); the oldest child, middle child, and youngest child faced a higher risk of grade 1 (OR = 1.42, 95% CI 1.09, 1.84), grade 2 (OR = 1.26, 95% CI 1.03, 1.54), and grade 1 thinness (OR = 1.87, 95% CI 1.21, 2.88) respectively. There was no statistically significant relationship, however, between a larger number of younger or older siblings and childhood thinness. CONCLUSIONS: Regardless of sex, having either siblings or a higher birth order was positively associated with childhood thinness. The present study has suggested that future interventions to prevent childhood thinness should consider family background as an important factor, especially in multi-child-families.

Epilepsy and Autism Spectrum Disorder: An Epidemiological Study in Shanghai, China.

Autism spectrum disorder (ASD) is a neurodevelopmental disease that may involve various brain abnormalities. However, there are few large epidemiological studies on the relation between epilepsy and ASD in terms of different genders and ages. This study aimed to evaluate the relation between epilepsy and ASD based on 74,251 Chinese children aged 3-12 years who were recruited from kindergartens and primary schools in China. ASD was diagnosed according to the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-V), and verification of epilepsy was based on medical records. The enrolled children diagnosed with ASD were examined by magnetic resonance imaging (MRI) and took genetic tests to rule out other neurological and congenital diseases. The raw odds ratio (OR) was 60.53 [95% confidence interval (CI) = 37.80-96.92, P < 0.01] for epilepsy and ASD, and the adjusted OR was 38.99 (95% CI = 20.70-73.41, P < 0.01) after controlling for the confounders. Moreover, the adjusted OR was significantly higher in girls (OR = 45.26, 95% CI = 16.42-124.76, P < 0.01) than in boys (OR = 32.64, 95% CI = 14.33-74.34, P < 0.01). Among children with younger age, the adjusted OR was the highest (OR = 75.12, 95% CI = 22.80-247.48.16, P < 0.01). These findings suggest that epilepsy might be closely linked to the development of ASD, especially for early-onset epilepsy and among girls.

[Abnormal brain structure in preschool and school-aged children with autism spectrum disorder].

OBJECTIVE: To investigate the prevalence and type of abnormal brain structure in preschool and school-aged children with autism spectrum disorder (ASD). METHODS: A total of 74 252 preschool and school-aged children aged 3-12 years in Shanghai were enrolled as subjects. A questionnaire survey was performed to collect basic information, and their parents and teachers completed the Social Communication Questionnaire (SCQ) based on the children's conditions. ASD was diagnosed by specialist physicians according to the DSM-5 criteria. Brain magnetic resonance imaging (MRI) was performed according to their parents' desires. RESULTS: The overall prevalence rate of ASD was 2.59‰ (192/74 252) in the preschool and school-aged children. Brain MRI data were collected from 73 children with ASD and 185 healthy children. Among the 73 children with ASD, 40 (55%) had abnormal brain structure, and the most common types were unilateral or bilateral ventriculomegaly in 32 children (80%) and unilateral or bilateral deep frontotemporal sulci in 12 children (30%). Children with ASD showed lower white matter signal in bilateral ventricular and unilateral or bilateral deep frontotemporal sulci, compared to their normal peers (P<0.05). CONCLUSIONS: There is a high prevalence rate of abnormal brain structure in preschool and school-aged children with ASD, with major types of unilateral or bilateral ventriculomegaly and unilateral or bilateral deep frontotemporal sulci. It is speculated that abnormal brain structure might be associated with the pathogenesis of ASD, and further studies are needed to clarify the association between abnormal brain structure and symptoms in children with ASD.

[Analysis of SATB2 gene mutation in a child with Glass syndrome].

OBJECTIVE: To analyze the clinical characteristics and genetic basis of a child affected with Glass syndrome. METHODS: Clinical manifestations and auxiliary examination results of the child were analyzed. Potential mutation was detected with next generation sequencing and validated by Sanger sequencing. RESULTS: The child has featured growth and mental retardation, delayed speech, cleft palate, crowding of teeth, and downslanting palpebral fissures. DNA sequencing revealed a de novo heterozygous missense mutation c.1166G>A (p.R389H) in exon 8 of the SATB2 gene in the child. CONCLUSION: The heterozygous mutation c.1166G>A (p.R389H) of the SATB2 gene probably account for the Glass syndrome in the patient.

Nocturnal enuresis in obese children: a nation-wide epidemiological study from China.

Childhood obesity increases the risk of obstructive sleep apnea syndrome, type 2 diabetes mellitus, cardiovascular abnormalities, and psychological and behavioral disorders. But it is unclear whether obesity is associated with childhood nocturnal enuresis (NE). This study aimed to assess the relationship between childhood obesity and NE in a nationally representative large sample in China. Subjects were enrolled from Urumqi, Chengdu, Xi'an, Hohhot, Wuhan, Canton, Shanghai, and Harbin cities in China in November and December 2005. The survey included 20,987 children aged 5-12 years and they and their caregivers completed questionnaires. Height and weight were measured by school teachers trained in healthcare. According to the WHO child growth standards, obesity was defined as a body mass index >95th percentile of peers with the same age and gender. NE was defined as bed wetting for more than twice a week for 3 consecutive months. Demographic variables were compared among different groups. The prevalence of obesity, asthma, attention-deficit/hyperactivity disorder (ADHD), depressive moods, and snoring were different between the NE and without-NE groups (P < 0.05). The raw odds ratio (OR) for NE and obesity was 1.36 (95%CI = 1.07-1.74; P = 0.013) and the adjusted OR was 1.42 (95%CI = 1.11-1.82; P = 0.005) in the multivariable analysis. When adjusting for co-occurring conditions, the results showed that asthma did not affect the risk of NE (OR = 1.42, 95%CI = 1.11-1.82; P = 0.005), but ADHD (OR = 1.41; 95%CI = 1.10-1.81; P = 0.006) and depressive moods (OR = 1.34; 95%CI = 1.07-1.76; P = 0.012) slightly weakens the association between NE in children and obesity, while snoring weakens the association between obesity and NE and the risk became non-significant (OR = 1.21; 95%CI = 0.94-1.56; P = 0.138). In conclusion, obese children were at a higher risk of incurring NE compared to non-obese children. This association was weaker in children who either snored, had ADHD, or had depressive mood.

Association of low birth weight with thinness and severe obesity in children aged 3-12 years: a large-scale population-based cross-sectional study in Shanghai, China.

OBJECTIVES: Low birth weight (BW) is a general symbol of inadequate intrauterine conditions that elicit abnormal fetal growth and development. The aim of current study is to investigate the relationship between low BW and thinness or severe obesity during maturation. DESIGN: A large-scale cross-sectional population-based survey. SETTING: 134 kindergartens and 70 elementary schools. PARTICIPANTS: 70 284 Chinese children aged 3-12 years. OUTCOME MEASURES: International Obesity Task Force body mass index (BMI) cut-offs were used to define grade 1, grade 2 and grade 3 thinness, overweight, obesity and severe obesity. Multinomial logistic regression was used to estimate the association between BW and BMI category. RESULTS: A total of 70 284 children participated in the survey. The percentage of grade 1 thinness and severe obesity in children with low BW is significantly higher than that in children with normal BW (p<0.05). Low BW was associated with an increased risk of grade 1 thinness (OR 1.56, 95% CI 1.38 to 1.75), grade 2 thinness (OR 1.34, 95% CI 1.10 to 1.64), grade 3 thinness (OR 1.99, 95% CI 1.63 to 2.42) and severe obesity (OR 1.27, 95% CI 1.03 to 1.55) but was not associated with obesity (OR 0.85, 95% CI 0.67 to 1.06). CONCLUSION: There is a positive association between low BW and thinness or severe obesity risk.

Early life exposure to particulate matter air pollution (PM1, PM2.5 and PM10) and autism in Shanghai, China: A case-control study.

BACKGROUND: The evidence for adverse effects of ambient particulate matter (PM) pollution on mental health is limited. Studies in Western countries suggested higher risk of autism spectrum disorder (ASD) associated with PM air pollution, but no such study has been done in developing countries. METHODS: A case-control study was performed in Shanghai with a multi-stage random sampling design. Children's exposures to PM1, PM2.5 and PM10 (particulate matter with aerodynamic diameter < 1 µm, < 2.5 µm and < 10 µm, respectively) during the first three years after birth were estimated with satellite remote sensing data. Conditional logistic regression was used to examine the PM-ASD association. RESULTS: In total, 124 ASD cases and 1240 healthy controls were included in this study. The median levels of PM1, PM2.5 and PM10 exposures during the first three years of life were 48.8 µg/m3, 66.2 µg/m3 and 95.4 µg/m3, respectively, and the interquartile range (IQR) for these three pollutants were 4.8 µg/m3, 3.4 µg/m3 and 4.9 µg/m3, respectively. The adjusted odds ratios (and 95% confidence intervals) of ASD associated with an IQR increase for PM1, PM2.5 and PM10 were 1.86 (1.09, 3.17), 1.78 (1.14, 2.76) and 1.68 (1.09, 2.59), respectively. Higher ORs of ASD associated with PM pollution were observed in the second and the third year after birth. CONCLUSIONS: Exposures to PM1, PM2.5 and PM10 during the first three years of life were associated with the increased risk of ASD and there appeared to be stronger effects of ambient PM pollution on ASD in the second and the third years after birth.

Relationship between sleep patterns, sleep problems, and childhood enuresis.

OBJECTIVE: Sleep dysfunction has been speculated to be involved in the pathological mechanism of nocturnal enuresis (NE). However, results obtained from previous studies were conflicting. This study evaluated and compared the sleep patterns and problems between children with and without nocturnal enuresis (NE) across different age and gender groups in a large epidemiological study. METHODS: A multi-center, cross-sectional, epidemiological study was carried out in which 21,439 primary school children (10,655 boys and 10,784 girls aged 5.1-12.9 years) and their parents participated. Chinese versions of the Children's Sleep Habits Questionnaire and the General Condition Questionnaire were used to identify nocturnal enuresis, sociodemographic characteristics, sleep patterns, and sleep problems in children. The sleep patterns and problems were compared between children with and without NE while controlling for a number of confounding factors in different age and gender groups. RESULTS: It was observed that children with NE (especially boys aged 11-12 years with severe NE) slept for a shorter period and were more likely to have sleep problems such as bedtime resistance, sleep duration disorder, night awakening, sleep anxiety, sleep-disordered breathing, and daytime sleepiness than those without NE. Girls with NE were more likely to suffer from other types of parasomnias. CONCLUSION: Children with NE, especially older boys with severe NE, were more sleep compromised than those without NE. Our findings warrant further research on the mechanism of NE and may have clinical implications for the treatment of childhood sleep problems and NE.

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions.

BACKGROUND: Developmental delay (DD) and intellectual disability (ID) are frequently associated with a broad spectrum of additional phenotypes. Chromosomal microarray analysis (CMA) has been recommended as a first-tier test for DD/ID in general, whereas the diagnostic yield differs significantly among DD/ID patients with different comorbid conditions. METHODS: To investigate the genotype-phenotype correlation, we examined the characteristics of identified pathogenic copy number variations (pCNVs) and compared the diagnostic yields among patient subgroups with different co-occurring conditions. RESULTS: This study is a retrospective review of CMA results generated from a mixed cohort of 710 Chinese patients with DD/ID. A total of 247 pCNVs were identified in 201 patients (28%). A large portion of these pCNVs were copy number losses, and the size of copy number losses was generally smaller than gains. The diagnostic yields were significantly higher in subgroups with co-occurring congenital heart defects (55%), facial dysmorphism (39%), microcephaly (34%) or hypotonia (35%), whereas co-occurring conditions of skeletal malformation (26%), brain malformation (24%) or epilepsy (24%) did not alter the yield. In addition, the diagnostic yield nominally correlated with ID severity. CONCLUSION: Varied yields exist in DD/ID patients with different phenotypic presentation. The presence of comorbid conditions can be among factors to consider when planning CMA.

Prevalence of DSM-5 Autism Spectrum Disorder Among School-Based Children Aged 3-12 Years in Shanghai, China.

We estimated the prevalence of ASD in a population-based sample comprising children aged 3-12 years (N = 74,252) in Shanghai. This included a high-risk group sampled from special education schools and a low-risk group randomly sampled from general schools. First, we asked parents and then teachers to complete the Social Communication Questionnaire for participating children. Children who screened positive based on both parental and teachers' reports were comprehensively assessed. ASD was identified based on DSM-5 criteria. We identified 711 children as being at-risk for ASD, of which 203 were identified as ASD cases. The prevalence of ASD was 8.3 per 10,000, which is likely an underestimate, given that 81.6% of the children diagnosed with ASD had IQs below 40. This is the first report on the prevalence of ASD according to DSM-5 in China.

Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience.

PURPOSE: To evaluate the performance of proband-only medical exome sequencing (POMES) as a cost-effective first-tier diagnostic test for pediatric patients with unselected conditions. METHODS: A total of 1,323 patients were tested by POMES, which targeted 2,742 known disease-causing genes. Clinical relevant variants were Sanger-confirmed in probands and parents. We assessed the diagnostic validity and clinical utility of POMES by means of a survey questionnaire. RESULTS: POMES, ordered by 136 physicians, identified 512 pathogenic or likely pathogenic variants associated with over 200 conditions. The overall diagnostic rate was 28.8%, ranging from 10% in neonatal intensive care unit patients to over 35% in pediatric intensive care unit patients. The test results had an impact on the management of the 45.1% of patients for whom there were positive findings. The average turnaround time was 57 days; the cost was $360/case. CONCLUSION: We adopted a relatively efficient and cost-effective approach in China for the molecular diagnosis of pediatric patients with suspected genetic conditions. While training for clinical geneticists and other specialists is lagging behind in China POMES is serving as a diagnostic equalizer for patients who do not normally receive extensive clinical evaluation and clinical diagnosis prior to testing. This Chinese experience should be applicable to other developing countries that are lacking clinical, financial, and personnel resources.

Prevalence of grade 1, 2 and 3 thinness is associated with lower socio-economic status in children in Shanghai, China.

OBJECTIVE: We aimed to investigate the prevalence of grade 1, 2 and 3 thinness among Chinese children and to explore their associations with socio-economic status (SES). DESIGN: A population, school-based cross-sectional study using multistage, stratified cluster random sampling. Grade 1, 2 and 3 thinness, overweight, obesity and severe obesity were defined by the International Obesity Task Force BMI cut-offs. SETTING: Seven districts of Shanghai, China. SUBJECTS: Chinese children aged 3-12 years (n 84 075). RESULTS: In boys and girls, respectively, the prevalence of grade 1 thinness was 8·89 % and 11·78 %, of grade 2 thinness was 2·80 % and 3·74 %, and of grade 3 thinness was 2·23 % and 2·93 %. Compared with urban children, suburban children had higher prevalence of thinness. Children whose parent had low education had higher prevalence of grade 1, 2 and 3 thinness than those whose parent had high education. The prevalence of grade 2 and 3 thinness, obesity and severe obesity in low-SES children was higher than that in high-SES children, and the prevalence of grade 1 thinness was lower than that in high-SES children. Particular patterns of prevalence of grade 1, 2 and 3 thinness appeared in low-, middle- and high-SES children. CONCLUSIONS: The study describes associations of SES with grade 1, 2 and 3 thinness, overweight, obesity and severe obesity in Shanghai children. The patterns of thinness and obesity in Shanghai provide further insights into BMI patterns in mega-cities in developing countries.

A novel 47.2 Mb duplication on chromosomal bands Xq21.1-25 associated with mental retardation.

We present array comparative genomic hybridization (aCGH) characterization of a novel Xq21.1-25 duplication in a 2-year-old girl with facial dysmorphism, mental retardation and short stature. Analysis of aCGH results revealed a 47,232kb duplication region that harbored 231 RefSeq genes, including 32 OMIM genes. Ten genes (i.e., ZNF711, SRPX2, RAB40AL, MID2, ACSL4, PAK3, UBE2A, UPF3B, CUL4B, and GRIA3) in the duplication interval have been associated with mental retardation. We discuss the genotype-phenotype correlation in this case. Our case provides evidence for an association of mental retardation with X chromosome duplication.