Naoko Inada

A nationwide survey on quality of life and associated factors of adults with high-functioning autism spectrum disorders

The psychosocial outcomes of individuals with high-functioning autism spectrum disorder (HFASD) appear to be diverse and are often poor relative to their intellectual or language level. To identify predictive variables that are potentially ameliorable by therapeutic intervention, this study investigated self-reported psychosocial quality of life and associated factors for adults with HFASD. All participants (n = 154) had a diagnosis of autism spectrum disorder, were over 18 years of age, lived in the community, and had used one or more support services during the survey period. The results demonstrated that psychosocial quality of life was lower than that of the general Japanese adult population. Environmental factors, such as mother’s support and early diagnosis, were associated with better quality of life, and aggressive behaviors were associated with poorer quality of life, while expressive language level at preschool years, a conventional outcome predictor, did not predict quality of life. These results emphasize that quality of life measures should be included as outcome indicators in treating individuals with HFASD.

Autism-Associated Gene Expression in Peripheral Leucocytes Commonly Observed between Subjects with Autism and Healthy Women Having Autistic Children

Autism spectrum disorder (ASD) is a severe neuropsychiatric disorder which has complex pathobiology with profound influences of genetic factors in its development. Although the numerous autism susceptible genes were identified, the etiology of autism is not fully explained. Using DNA microarray, we examined gene expression profiling in peripheral blood from 21 individuals in each of the four groups; young adults with ASD, age- and gender-matched healthy subjects (ASD control), healthy mothers having children with ASD (asdMO), and asdMO control. There was no blood relationship between ASD and asdMO. Comparing the ASD group with control, 19 genes were found to be significantly changed. These genes were mainly involved in cell morphology, cellular assembly and organization, and nerve system development and function. In addition, the asdMO group possessed a unique gene expression signature shown as significant alterations of protein synthesis despite of their nonautistic diagnostic status. Moreover, an ASD-associated gene expression signature was commonly observed in both individuals with ASD and asdMO. This unique gene expression profiling detected in peripheral leukocytes from affected subjects with ASD and unaffected mothers having ASD children suggest that a genetic predisposition to ASD may be detectable even in peripheral cells. Altered expression of several autism candidate genes such as FMR-1 and MECP2, could be detected in leukocytes. Taken together, these findings suggest that the ASD-associated genes identified in leukocytes are informative to explore the genetic, epigenetic, and environmental background of ASD and might become potential tools to assess the crucial factors related to the clinical onset of the disorder.

Utility of Teacher-Report Assessments of Autistic Severity in Japanese School Children

Recent studies suggest that many children with milder autism spectrum disorder (ASD) are undiagnosed, untreated, and being educated in mainstream classes without support and that school teachers might be the best persons to identify a childs social deviance. At present, only a few screening measures using teacher ratings of ASD have been validated. The aim of this study was to examine the utility of teacher ratings on the Social Responsiveness Scale (SRS), a quantitative measure of ASD. We recruited 130 participants aged 4 to 17 years from local schools or local pediatric outpatient clinics specializing in neurodevelopmental disorders that included 70 children with ASD. We found that the teacher-report SRS can be reliably and validly applied to children as a screening tool or for other research purposes, and it also has cross-cultural comparability. Although parent-teacher agreement was satisfactory overall, a discrepancy existed for children with ASD, especially for girls with ASD. To improve sensitivity in children at higher risk, especially girls, we cannot overstate the importance of using standardized norms specific to gender, informant, and culture.

Predicting children with pervasive developmental disorders using the Wechsler Intelligence Scale for Children–Third Edition

An original combination score (i.e. the sum of Vocabulary and Comprehension subtracted from the sum of Block Design and Digit Span) was created from the four Wechsler Intelligence Scale for Children–Third Edition (WISC‐III) subtests identified by discriminant analysis on WISC‐III data from 139/129 children with/without pervasive developmental disorders (PDD; mean, 8.3/8.1 years) and its utility examined for predicting PDD. Its best cut‐off was 2/3, with sensitivity, specificity, positive and negative predictive values of 0.68, 0.61, 0.65 and 0.64, respectively. The score seems useful, so long as clinicians are aware of its limitations and use it only as a supplemental measure in PDD diagnosis.

Utility of the Japanese version of the Checklist for Autism in Toddlers for predicting pervasive developmental disorders at age 2

We evaluated the utility of the Japanese version of the Checklist for Autism in Toddlers for predicting pervasive developmental disorders (PDD) among 2‐year‐old children in clinical settings. Confirmed diagnosis revealed that the pass rate on four items (social interest, proto‐imperative pointing, proto‐declarative pointing and joint‐attention) was significantly lower in 52 PDD children than in 48 non‐PDD children, and if abnormal development was reported in two or more items, the sensitivity, specificity, and positive/negative predictive values for PDD diagnosis were 0.85, 0.73, and 0.77/0.81, respectively. This simple screening tool can provide valuable information to clinicians when diagnosing PDD.