Comparison of mental health status between freshmen with and without disabilities / 中国学校卫生

Objective@#To explore the differences in mental health between freshmen with and without disabilities.@*Methods@#A comparative analysis of 6 114 freshmen with and without disabilities from an undergraduate college in Nanjing from 2018 to 2020 was measured by the SCL-90 Mental Health Symptom Self Rating Scale.@*Results@#The positive detection rate of SCL-90 was 23.29%, and the positive rate of disabled students was significantly higher than healthy students( χ 2= 28.35 , P <0.01); Disabled freshmen were significantly higher than healthy freshmen in the levels of all factors( P <0.05); A longitudinal comparison of the positive detection rate of SCL-90 between the two groups of freshmen in three years, there was no statistical difference between the disabled freshmen( χ 2=5.82, P =0.06), there was a statistical difference in healthy freshmen( χ 2=29.43, P <0.01); After interview with positive factor students, the composition ratio of freshmen with disabled of A and B was higher than that of healthy freshmen( χ 2= 7.09 , P <0.05).@*Conclusion@#Mental health level of freshmen with disabled is lower than that of healthy freshmen. Mental health among freshmen without disabilities is worsening. The mental health of disabled freshmen is relatively stable, however, the proportion of students with psychological problems is relatively high, which requires attention.

Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family

Abstract X-linked intellectual disability (XLID) has been associated with various genes. Diagnosis of XLID, especially for non-syndromic ones (NS-XLID), is often hampered by the heterogeneity of this disease. Here we report the case of a Chinese family in which three males suffer from intellectual disability (ID). The three patients shared the same phenotype: no typical clinical manifestation other than IQ score ≤ 70. For a genetic diagnosis for this family we carried out whole exome sequencing on the proband, and validated 16 variants of interest in the genomic DNA of all the family members. A missense mutation (c.710G > T), which mapped to exon 6 of the Rab GDP-Dissociation Inhibitor 1 (GDI1) gene, was found segregating with the ID phenotype, and this mutation changes the 237th position in the guanosine diphosphate dissociation inhibitor (GDI) protein from glycine to valine (p. Gly237Val). Through molecular dynamics simulations we found that this substitution results in a conformational change of GDI, possibly affecting the Rab-binding capacity of this protein. In conclusion, our study identified a novel GDI1 mutation that is possibly NS-XLID causative, and showed that whole exome sequencing provides advantages for detecting novel ID-associated variants and can greatly facilitate the genetic diagnosis of the disease.