The fragile X mutation is the result of amplification in the repeat number of p(CGG)n in FMR-1; alleles with more than 52 repeats have been shown to be so unstable as to mutate in the repeat number in almost every transmission. To improve our understanding of mutations in normal alleles of FMR-1, the following studies were carried out in the Japanese population: a study on length variation in the repeat to determine the allele distribution of the repeat length in a non-retarded population, family studies to observe new mutations in normal allele, and haplotype analyses with microsatellite markers flanking the repeat to confirm estimated mutation rates and founder chromosomes in the fragile X syndrome. Analysis of the p(CGG)n in 370 unrelated males detected 24 distinct alleles with repeats of 18-44. A comparison with previously reported data suggests the presence of racial/ethnic differences in the allele distribution. No premutation allele was found in 824 unrelated X chromosomes examined by the polymerase chain reaction and Southern blot analysis. Family studies detected one new mutation in a total of 303 meioses. However, the mutation rate was not in accordance with the expected or observed heterozygosities in the population or with linkage disequilibrium observed between the repeat numbers and the haplotypes of the markers flanking the CGG. The haplotype in the chromosome in which the new mutation was found was the same as that frequently found in the Japanese fragile X chromosomes, and the variance in the CGG repeat number was wider in chromosomes with the haplotypes frequently found in the fragile X chromosome than in those with the other haplotypes. These observations suggest that a subgroup is present in normal alleles and that this subgroup is more liable to mutate than others.

The "Skippu-Mama" peer support program was developed to improve quality of life and reduce parental stress in mothers of children with autism spectrum disorders. The program was designed to improve these variables by refreshing and healing participants' minds and bodies. Twenty-four mothers of 26 children diagnosed with ASD in Japan were included in the study and completed measures of quality of life and parental stress before, during, and after participation in the Skippu-Mama program. Our results demonstrated that time was a significant main effect. Further, multiple comparisons with Bonferroni corrections indicated a significant increase in World Health Organization Quality of Life 26 scores three months into the program and at its conclusion six months after commencement. Overall, the Skippu-Mama program improved the quality of life of mothers of children with ASD, and we believe that the intervention's focus on both individual and family variables may be especially effective in this population.

Greater knowledge of the process by which postpartum parents acquire further awareness of their child and fulfill parental roles will likely lead to an understanding that creates a new approach to nursing. This study explored the transition to parenthood and the relationship between parenthood and family functioning in first-time mothers and fathers. Seventy-eight parents (41 mothers, 37 fathers) participated in the study and completed the Scale of Early Childrearing Parenthood and Family Assessment Inventory at birth and at 1, 3, 6, and 12 months postpartum. The levels of parental role attainment and awareness of the child rose dramatically between birth and 3 months postpartum, thereafter stabilizing up to 12 months postpartum. Parenthood and family functioning showed a moderately positive correlation, which gradually became more positive over time. Appropriate nursing interventions might be necessary for parents who show difficulty in accepting their parental roles and have low levels of awareness of their child after 3 months postpartum. Such intervention might be necessary for not only the parents, but also the family unit.

The present study showed that the JSCA-QOL v.3 is a reliable and valid measurement tool that can be used to appropriately assess QOL in school-aged children with asthma. As the JSCA-QOL v.3 can be easily completed in about 10 minutes, it can contribute as an efficient evaluation tool of the outcome of medical treatment through continual utilization in the outpatient clinic. The JSCA-QOL v.3 allows a health provider to help school-aged children with asthma to achieve their developmental tasks.

The current results reveal that "family cohesion," "family system flexibility," "emotions related to social factors" and "full-time work by mothers" predicted parenting stress of mothers who had children with AD.