WHAT'S KNOWN ON THIS SUBJECT:The sibling recurrence risk of autism has been estimated to be between 3% and 10%. Previous research was affected by small samples and selection, stoppage, and reporting limitations. Updated estimates of recurrence risk are needed. WHAT THIS STUDY ADDS:Studying a large sample and using a prospective longitudinal design, this study demonstrated that the sibling recurrence risk of autism spectrum disorder is substantially higher than previous estimates. This elevated risk has important implications for infant screening and genetic counseling. abstract OBJECTIVE: The recurrence risk of autism spectrum disorders (ASD) is estimated to be between 3% and 10%, but previous research was limited by small sample sizes and biases related to ascertainment, reporting, and stoppage factors. This study used prospective methods to obtain an updated estimate of sibling recurrence risk for ASD. METHODS:A prospective longitudinal study of infants at risk for ASD was conducted by a multisite international network, the Baby Siblings Research Consortium. Infants (n ϭ 664) with an older biological sibling with ASD were followed from early in life to 36 months, when they were classified as having or not having ASD. An ASD classification required surpassing the cutoff of the Autism Diagnostic Observation Schedule and receiving a clinical diagnosis from an expert clinician. RESULTS:A total of 18.7% of the infants developed ASD. Infant gender and the presence of Ͼ1 older affected sibling were significant predictors of ASD outcome, and there was an almost threefold increase in risk for male subjects and an additional twofold increase in risk if there was Ͼ1 older affected sibling. The age of the infant at study enrollment, the gender and functioning level of the infant's older sibling, and other demographic factors did not predict ASD outcome. CONCLUSIONS:The sibling recurrence rate of ASD is higher than suggested by previous estimates. The size of the current sample and prospective nature of data collection minimized many limitations of previous studies of sibling recurrence. Clinical implications, including genetic counseling, are discussed. Pediatrics 2011;128:e488-e495 AUTHORS:

Objective-To examine prospectively the emergence of behavioral signs of autism in the first years of life in infants at low and high risk for autism.Method-A prospective longitudinal design was used to compare 25 infants later diagnosed with an autism spectrum disorder (ASD) with 25 gender-matched low-risk children later determined to have typical development. Participants were evaluated at 6, 12, 18, 24, and 36 months of age.Correspondence to: Dr. Ozonoff, M.I.N.D. Institute, University of California Davis Health System, 2825 50 th Street, Sacramento CA 95817; sally.ozonoff@ucdmc.ucdavis.edu. Disclosure: Drs. Ozonoff, Iosif, Cook, Hutman, Rogers, Rozga, Sigman, Steinfeld, and Young, and Mr. Baguio, Ms. Hill, and Ms. Sangha report no biomedical financial interests or potential conflicts of interest.Editorial support for the preparation of this article was provided by Diane Larzelere, UC Davis. NIH Public AccessAuthor Manuscript J Am Acad Child Adolesc Psychiatry. Author manuscript; available in PMC 2010 August 17. NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author ManuscriptFrequencies of gaze to faces, social smiles, and directed vocalizations were coded from video and rated by examiners.Results-The frequency of gaze to faces, shared smiles, and vocalizations to others were highly comparable between groups at 6 months of age, but significantly declining trajectories over time were apparent in the group later diagnosed with ASD. Group differences were significant by 12 months of age on most variables. Although repeated evaluation documented loss of skills in most infants with ASD, most parents did not report a regression in their child's development.Conclusions-These results suggest that behavioral signs of autism are not present at birth, as once suggested by Kanner, but emerge over time through a process of diminishment of key social communication behaviors. More children may present with a regressive course than previously thought, but parent report methods do not capture this phenomenon well. Implications for onset classification systems and clinical screening are also discussed. KeywordsAutism; Onset; Infancy; Regression This study examined when and how behavioral signs of autism spectrum disorders (ASD) emerge in the first years of life. Most previous investigations of this topic have been retrospective, relying on parent report of earlier development or analysis of home videotape of infants later diagnosed with ASD. The existing literature suggests that behavioral signs of autism emerge in two different patterns, an early onset and a regressive course.Retrospective studies have demonstrated that children with early-onset ASD differ from agematched children with delayed and typical development in orienting to name, gaze to faces, joint attention, and affect sharing. [1][2][3][4][5][6] Differences are most evident in the second year of life 7 but some studies have detected signs of ASD before the first birthday. 1,5,8 This early onset pattern is thought to occur in the majority of indiv...

Telehealth or online communication technologies may lessen the gap between intervention requirements for children with autism spectrum disorders (ASDs) and the available resources to provide these services. This study used a video conferencing and self-guided website to provide parent training in the homes of children with ASD. The first eight families to complete the 12-week online intervention and three-month follow up period served as pilot data. Parents' intervention skills and engagement with the website, as well as children's verbal language and joint attention skills were assessed. Preliminary research suggests telehealth may support parental learning and improve child behaviors for some families. This initial assessment of new technologies for making parent training resources available to families with ASD merits further, in-depth study.

This paper presents follow-up longitudinal data to research that previously suggested the possibility of abnormal gaze behavior marked by decreased eye contact in a subgroup of 6-month-old infants at risk for autism (Merin et al., 2007). Using eye-tracking data and behavioral data recorded during a live mother-infant interaction involving the still-face procedure, the predictive utility of gaze behavior and affective behaviors at 6 months was examined using diagnostic outcome data obtained longitudinally over the following 18 months. Results revealed that none of the infants previously identified as showing lower rates of eye-contact had any signs of autism at outcome. In contrast, three infants who were diagnosed with autism demonstrated consistent gaze to the eye region and typical affective responses at 6 months. Individual differences in face scanning and affective responsivity during the live interaction were not related to any continuous measures of symptom frequency or symptom severity. In contrast, results of growth curve models for language development revealed significant relationships between face scanning and expressive language. Greater amounts of fixation to the mother’s mouth during live interaction predicted higher levels of expressive language at outcome and greater rates of growth. These findings suggest that although gaze behavior at 6 months may not provide early markers for autism as initially conceived, gaze to the mouth in particular may be useful in predicting individual differences in language development.