New interview and observation measures of the broader autism phenotype: impressions of interviewee measure.

A 20 item observational measure of social functioning, the Impression of Interviewee rating scale, is one of three measures devised to assess the broader autism phenotype. The sample studied included families containing at least two individuals with autism spectrum disorder; observations were undertaken by the researcher who interviewed the subject. An exploratory factor analysis suggested a single factor was most appropriate (Cronbach's α of 0.78). There was a modest but significant retest correlation of 0.42. Correlations between live ratings and blind consensus ratings of vignettes were high (0.93). Correlations with the interview measures were moderate but statistically significant. In conclusion, the observational scale provides a promising start but further work is required before general use can be recommended.

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.

Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that needs further exploration. Onset of epilepsy may be provoked by fever and can resemble Dravet syndrome. Furthermore, transmitting males have no seizures, but are reported to have rigid personalities suggesting possible autism spectrum disorders (ASD). Therefore, this study aimed to determine the phenotypic spectrum associated with PCDH19 mutations in Dravet-like and EFMR female patients and in males with ASD. We screened 120 females suffering from Dravet-like epilepsy, 136 females with EFMR features and 20 males with ASD. Phenotypes and genotypes of the PCDH19 mutation carriers were compared with those of 125 females with EFMR reported in the literature. We report 15 additional patients with a PCDH19 mutation. Review of clinical data of all reported patients showed that the clinical picture of EFMR is heterogeneous, but epilepsy onset in infancy, fever sensitivity and occurrence of seizures in clusters are key features. Seizures remit in the majority of patients during teenage years. Intellectual disability and behavioural disturbances are common. Fifty percent of all mutations are missense mutations, located in the extracellular domains only. Truncating mutations have been identified in all protein domains. One ASD proband carried one missense mutation predicted to have a deleterious effect, suggesting that ASD in males can be associated with PCDH19 mutations.

Predictive value of morphological features in patients with autism versus normal controls.

We investigated the predictive power of morphological features in 224 autistic patients and 224 matched-pairs controls. To assess the relationship between the morphological features and autism, we used the receiver operator curves (ROC). In addition, we used recursive partitioning (RP) to determine a specific pattern of abnormalities that is characteristic for the difference between autistic children and typically developing controls. The present findings showed that morphological features are significantly increased in patients with autism. Using ROC and RP, some of the morphological measures also led to strong predictive accuracy. Facial asymmetry, multiple hair whorls and prominent forehead significantly differentiated patients with autism from controls. Future research on multivariable risk prediction models may benefit from the use of morphological features.

A new symptom model for autism cross-validated in an independent sample.

BACKGROUND: Results from several studies indicated that a symptom model other than the DSM triad might better describe symptom domains of autism. The present study focused on a) investigating the stability of a new symptom model for autism by cross-validating it in an independent sample and b) examining the invariance of the model regarding three covariates: symptom severity, intelligence, and age. METHOD: The validity of the symptom model was examined in an independent sample of N = 263 children and adolescents with autism spectrum disorders, and model invariance was studied in a larger sample of N = 356 children and adolescents with autism spectrum disorders. The fit of the symptom model to the sample data was compared to that of alternative models (including the DSM triad), and the invariance of the new model was investigated for each covariate by multiple-group comparisons. RESULTS: The fit of the new symptom model was better than that of two alternative models. It could not be compared to that of the DSM triad, because the latter encountered empirical identification problems. There were no significant or substantive differences between the estimated model in each of the dichotomised groups for any of the three covariates, which indicated factorial invariance of both structural form and factor loadings. CONCLUSIONS: The symptom model appeared to be relatively stable: It could be cross-validated in the independent sample and factorial invariance was shown between the dichotomised groups for each covariate. Further model validation with instruments other than the Autism Diagnostic Interview-Revised (ADI-R) is recommended.

Visual information processing in high-functioning individuals with autism spectrum disorders and their parents.

The authors assessed visual information processing in high-functioning individuals with pervasive developmental disorders (PDD) and their parents. The authors used tasks for contrast sensitivity, motion, and form perception to test visual processing occurring relatively early and late in the magnocellular-dorsal and parvocellular-ventral pathways. No deficits were found in contrast sensitivity for low or high spatial frequencies or for motion or form perception between individuals with PDD in comparison with a matched control group. Individuals with PDD performed equally with or better than controls on motion detection tasks. In addition, the authors did not find differences on any of the tasks between parents of the PDD group and matched control parents. These results indicate that high-functioning individuals with PDD and their parents are able to process visual stimuli that rely on early or late processing in the magnocellular-dorsal and parvocellular-ventral pathways as well as controls.