Developmental language disorder is a common childhood developmental disability,language development of children with a clear backward,but ruled out the hearing impairment,mental retardation,severemental disorder,autism,and other factors influence on language development.The most prominent clinical manifestation is that the level of language development is significantly lower than the cognitive level.They have different language development characteristics.There might be defects in semantics,syntax,etc.This paper mainly describes from the etiology,clinical manifestations,diagnosis,and other aspects of research starus on children with developmental language disorder.

OBJECTIVETo investigate mutations of MECP2 gene in classical sporadic Rett syndrome (RTT) patients in China.

METHODSPolymerase chain reaction, single strand conformation polymorphism, cloning and direct sequencing were employed to analyse the three exons of MECP2 gene in 26 RTT patients and their parents, and in 2 sisters of 2 of the RTT patients.

RESULTSNine different mutations in exon 3 were identified in 14 of the 26 patients with RTT, including 3 missense mutations, 3 nonsense mutations, and 3 frame-shift mutations (2 deletion mutations and 1 insert mutation); 2 of these were novel. A missense variant was also identified, which was carried by unaffected father and affected daughter.

CONCLUSIONMutations in MECP2 gene were found over 50% of patients with RTT in China.

Base Sequence ; Child ; Child, Preschool ; Chromosomal Proteins, Non-Histone ; DNA ; chemistry ; genetics ; DNA Mutational Analysis ; DNA-Binding Proteins ; genetics ; Female ; Humans ; Infant ; Methyl-CpG-Binding Protein 2 ; Mutagenesis, Insertional ; Mutation ; Mutation, Missense ; Polymorphism, Single-Stranded Conformational ; Repressor Proteins ; Rett Syndrome ; genetics ; Sequence Deletion

Objective:To investigate the effects of micro video combined with situational experience health education program in elderly diabetic patients.Methods:Totally, 100 elderly diabetic patients were enrolled from January to December in 2018 in Sir Run Run Shaw Hospital Affiliated to Zhejiang University School of Medicine. They were assigned to experimental group ( n=50) and control group( n=50) by random number table. The control group received routine health education, while the experimental group received micro video combined with situational experience health education program. The intervention effects were assessed by Chinese version of Tilburg Frailty Indicator and Summary of Diabetes Self Care Action. Results:Finally, 45 cases were included in the experimental group and 47 cases in the control group. There was no significant difference between the two groups before intervention ( P>0.05). After intervention, the scores of physical frailty, psychological frailty, social frailty and total frailty were (2.60 ± 1.19) points, (1.24 ± 0.87) points, (1.11 ± 0.83) points and (4.96 ± 1.76) points in the experimental group, significantly lower than in the control group (3.45 ± 1.18) points, (1.96 ± 0.86) points, (2.06 ± 0.79) points and (7.47 ± 1.57) points. The difference was statistically significant ( t values were 3.32-7.23, P<0.01); the scores of diet, exercise, blood glucose monitoring, medication, foot care dimension and total self-care activities were (20.36 ± 2.22) points, (12.02 ± 2.33) points, (5.07 ± 0.81) points, (9.98 ± 1.99) points, (7.53 ± 1.10) points and (54.96 ± 4.49) points in the experimental group, significantly higher than in the control group (18.96 ± 2.12) points, (10.47 ± 2.24) points, (3.85 ± 0.83) points, (8.62 ± 1.69) points, (6.60 ± 1.12) points and (48.49 ± 4.07) points. the difference was statistically significant ( t values were 3.10-7.25, P<0.01). Conclusions:Micro video combined with situational experience can improve frailty status and self-care activities in elderly patients with diabetes.