Motor performance in 5-year-old preschool children with developmental speech and language disorders

Aim:  The aim of the study was to evaluate motor performance in 5-year-old children with mild-to-moderate developmental speech and language disorders (DSLD) in comparison of age- and gender-matched healthy children.
Materials and methods:  A total of 32 DSLD children and 45 control group (CG) children participated in our study. The children were examined for dexterity skills and gross motor function through vertical jumping performance, maximal isometric strength of the leg extensors and isometric hand-grip strength.
Results:  Dexterity skills did not differ significantly in the measured groups, but DSLD children performed more poorly in gross motor tasks. DSLD children demonstrated significantly lower vertical jumping height compared to CG children. DSLD girls had lower isometric strength of the leg extensors compared to all other measured groups. The hand-grip strength was greater in CG boys compared to all other measured groups. No significant differences in this parameter were observed between CG girls and DSLD children, although DSLD girls' result was the lowest.
Conclusion: In children with mild-to-moderate DSLD, the lag of gross motor development is clearly evident; however, they do not differ from CG children in dexterity skills. DSLD girls had more affected gross motor function compared to DSLD boys.     

言语语言障碍儿童执行功能的研究现状

语言是人类交流的工具,与认知功能以及思维的发展有关.执行功能作为人类一种高级认知功能,与学龄前期儿童的语言能力密切联系、协调发展.探讨语言能力与执行功能之间的关系具有广阔的理论前途和应用前景,该文对言语语言障碍儿童执行功能的国内外研究结果进行综述.     

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay,intellectual disability,autism spectrum disorders and dysmorphic features

Background and objectivesSubmicroscopic chromosomal rearrangements are the most common identifiable causes of intellectual disability and autism spectrum disorders associated with dysmorphic features. Chromosomal microarray (CMA) can detect copy number variants <1 Mb and identifies size and presence of known genes. The aim of this study was to demonstrate the usefulness of CMA, as a first-tier tool in detecting the etiology of unexplained intellectual disability/autism spectrum disorders (ID/ASDs) associated with dysmorphic features in a large cohort of pediatric patients.Patients and methodsWe studied 349 individuals; 223 males, 126 females, aged 5 months-19 years. Blood samples were analyzed with CMA at a resolution ranging from 1 Mb to 40 Kb. The imbalance was confirmed by FISH or qPCR. We considered copy number variants (CNVs) causative if the variant was responsible for a known syndrome, encompassed gene/s of known function, occurred de novo or, if inherited, the parent was variably affected, and/or the involved gene/s had been reported in association with ID/ASDs in dedicated databases.Results91 CNVs were detected in 77 (22.06%) patients: 5 (6.49%) of those presenting with borderline cognitive impairment, 54 (70.13%) with a variable degree of DD/ID, and 18/77 (23.38%) with ID of variable degree and ASDs. 16/77 (20.8%) patients had two different rearrangements. Deletions exceeded duplications (58 versus 33); 45.05% (41/91) of the detected CNVs were de novo, 45.05% (41/91) inherited, and 9.9% (9/91) unknown. The CNVs caused the phenotype in 57/77 (74%) patients; 12/57 (21.05%) had ASDs/ID, and 45/57 (78.95%) had DD/ID.ConclusionsOur study provides further evidence of the high diagnostic yield of CMA for genetic testing in children with unexplained ID/ASDs who had dysmorphic features. We confirm the value of CMA as the first-tier tool in the assessment of those conditions in the pediatric setting.     

Lower intakes of protein,carbohydrate, and energy are associated with increased global DNA methylation in 2‐ to 3‐year‐old urban slum children in Bangladesh

Stunting in children is a global public health concern. We investigated how global DNA methylation relates to food intakes, dietary diversity, and development of stunting among 324 children aged 24–36 months in a slum community in Dhaka, Bangladesh. Stunted children (height‐for‐age z score ??2; n = 162) and their age‐ and sex‐matched nonstunted counterparts (height‐for‐age z score ??1; n = 162) were selected by active community surveillance. We studied global DNA methylation, measured as 5‐mC% content in whole blood. Dietary intake, anthropometric measurement, and sociodemographic information were obtained. In the multiple linear regression model, increased global DNA methylation level in children was significantly associated with consumption of lower amount of energy, coef: .034 (95% CI [.014, .053]); P = .001, protein, coef: .038 (95% CI [.019, .057]); P = .000, carbohydrate, coef: .027 (95% CI [.008, .047]); P = .006, zinc, coef: .020 (95% CI [.001, .039]); P = .043, total dietary intakes, coef: .020 (95% CI [.001, .039]); P = .043, and intake from plant sources, coef: .028 (95% CI [.009, .047]); P = .005, after adjusting for other covariates. Moreover, higher fruits and vegetables consumption was significantly associated with lower 5‐mC% level, coef: ?.022 (95% CI [?.041, ?.002]); P = .028. Our findings suggest a significant association between low dietary intakes and increased global DNA methylation. We also found increased global DNA methylation in stunted children. To establish the relationship among the macronutrient intakes, global DNA methylation, and stunting, future prospective studies are warranted in resource‐poor settings.