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Autism spectrum disorder (ASD) symptoms are present in unaffected relatives and individuals from the general population. Results are inconclusive, however, on whether unaffected relatives have higher levels of quantitative autism traits (QAT) or not. This might be due to differences in research populations, because behavioral data and molecular genetic research suggest that the genetic etiology of ASD is different in multiplex and simplex families. We compared 117 unaffected siblings and 276 parents of at least one child with ASD with 280 children and 595 adults from the general population on the presence of QAT using the Social Responsiveness Scale (SRS). Mean SRS scores for siblings, control children, parents and control adults were 25.4, 26.6, 33.7 and 32.9. Fathers of children with ASD showed significantly higher levels of QAT than controls, but siblings and mothers did not. We could not detect a statistically significant difference in SRS scores between relatives from simplex and multiplex families. These results do not support the theory of differential (genetic) etiology in multiplex and simplex families and suggest that a carried genetic risk is generally not expressed phenotypically in most relatives, except in fathers. (Contains 1 note, 5 tables, and 3 figures.)

Atypical sensory processing is common in autism spectrum disorders (ASD). Specific profiles have been proposed in different age groups, but no study has focused specifically on adolescents. Identifying traits of ASD that are shared by individuals with ASD and their non-affected family members can shed light on the genetic underpinnings of ASD. Eighty adolescents with ASD (64 boys, 16 girls), 56 non-affected adolescent siblings (21 boys, 35 girls) and 33 adolescent controls (18 boys, 15 girls) filled out the Adolescent/Adult Sensory Profile, a self-report questionnaire resulting in four sensory quadrants according to Dunn's model of sensory processing. Adolescents with ASD differed significantly from controls on the quadrants Sensation Seeking and Sensation Avoidance. On quadrant 2 (Sensation Seeking) siblings scored significantly lower than controls and significantly higher than ASD. These results confirm the presence of atypical sensory processing in adolescents with ASD. We argue that reduced Sensation Seeking might be a candidate for an intermediate phenotype. (Contains 1 table.)

Abstract Background The androgen testosterone plays a critical role in many aspects of sexual differentiation. Also, it is thought to induce aggressive behaviours or to play a role in social dominance. Case presentation In this case report a 4-year-old boy is described whose testosterone and dehydroepiandrosterone sulphate (DHEA-S) levels were raised to pubertal levels due to a testosterone producing testis tumour. This provided the unique opportunity to examine the effects of elevated levels of androgens on levels of aggression or on social dominance before the onset of puberty. Conclusion The present case report does not support the hypothesis of a causal relationship between testosterone and aggression or between testosterone and social dominance in young children.