Onset patterns in autism: Variation across informants, methods, and timing

Ozonoff, Sally J; Gangi, Devon N.; Hanzel, Elise P.; Hill, Alesha; Hill, Monique Moore; Miller, Meghan; Schwichtenberg, A. J.; Steinfeld, Mary Beth; Parikh, Chandni; Iosif, Ana‐Maria

doi:10.1002/aur.1943

Cited by 62 publications

(75 citation statements)

References 35 publications

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“…In a further, larger study ( n = 32 ASD, n = 117 high‐risk non‐ASD, and n = 81 low‐risk non‐ASD siblings), Ozonoff et al [] measured regression using four different measures to look at the effect of informant (examiner vs. parent), decision type (categorical vs. dimensional), and timing of assessment (retrospective vs. prospective) on classification of regression. Using prospective, dimensional measures of social engagement, there was decline in the ASD group from a level comparable to non‐ASD groups at 6 months of age to be significantly lower by 12 months, with continuing decline through 24–36 months.…”

Section: Evidence For Regression and Prevalence Ratesmentioning

confidence: 99%

“…Taken as a whole, these findings suggest that between 6 and 14 months a substantial proportion of infants who later develop ASD experience increasing difficulties in disengaging visual attention [Elsabbagh et al, ; Zwaigenbaum et al, ] and the majority show declining fixation of eyes, gaze to faces, and social engagement, from typical levels in early infancy (2–6 months) to significantly reduced levels by 24–36 months [Jones & Klin, ; Ozonoff et al, ; Ozonoff et al, ]. This may influence subsequent development as from 12 months onward, children with ASD show slower trajectories of cognitive and language development relative to comparison groups.…”

Section: Evidence For Regression and Prevalence Ratesmentioning

confidence: 99%

“…(b) Eye fixation (red) is based on figure 2 from Jones and Klin (); left hand axis here shows percentage fixation time; (c) Expressive/receptive language (green) is based on figure 1 from Landa et al (), other than the trajectory for the subgroup with loss of raw score points, which was not presented in Landa et al but has been estimated here; left hand axis here shows MSEL raw scores. (d) Social engagement (yellow) is based on figure 1 from Ozonoff et al (); right hand axis here shows examiner ratings. Approximate periods during which subcortical and cortical mechanisms of social orienting and attentional control are likely to be in decline or developing are indicated.…”

Section: Evidence For Regression and Prevalence Ratesmentioning

confidence: 99%

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Regression in autism spectrum disorder: Reconciling findings from retrospective and prospective research

et al. 2018

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The way in which the behavioral manifestations of autism spectrum disorder (ASD) emerge in infancy is variable. Regression-loss of previously acquired skills-occurs in a subset of children. However, the etiology and significance of regression remains unclear. Until recently, investigation of regression relied on retrospective report by parents or examination of home videos from early in life. However, home videos and retrospective report of the nature and timing of regression, and association with factors such as illness or immunization, is potentially subject to bias. The advent of prospective studies of infant siblings at familial high-risk of ASD has the potential to document regression as it occurs. Recent research has suggested that subtle loss of skills occurs in a larger proportion of children with ASD than previously assumed; however, there are few reports of clear-cut regressions, such as that involving dramatic loss of language and other established skills, in the prospective literature. This could be because of the following: clear-cut regression occurs less commonly than parent report suggests, study design limits the potential to detect regression, or there are differences between multiplex and simplex families in the rate of de novo genetic mutations and therefore regression risk. This review will bring together literature from retrospective and prospective research and attempt to reconcile diverging findings, with a specific focus on methodological issues. Changing conceptualizations of regression will be discussed, as well as etiological factors that may be associated with regression. The main challenges that need to be addressed to measure regression in prospective studies will be set out.Lay Summary: Regression-a loss of previously established skills-occurs in a subset of children with ASD. Parental recall is not always accurate but studying younger siblings of children with ASD, 10-20% of whom will develop ASD, should make it possible to measure regression as it occurs. Clear-cut regression, like loss of language, has not often been reported in infant sibling studies, but recent research suggests that gradual loss of social engagement might be more common. This review looks at the evidence for regression from infant sibling studies and asks how study design affects the likelihood of capturing regression.

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Section: Evidence For Regression and Prevalence Ratesmentioning

confidence: 99%

Section: Evidence For Regression and Prevalence Ratesmentioning

confidence: 99%

Section: Evidence For Regression and Prevalence Ratesmentioning

confidence: 99%

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Regression in autism spectrum disorder: Reconciling findings from retrospective and prospective research

et al. 2018

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“…Some reviews suggest that, after regression, CDD is ‘essentially identical’ to ASD: phenotypic similarities include both core social‐communication impairments and comorbid intellectual disability and epilepsy . Further, regression, a salient feature of CDD, has also been described in ASD, including in prospective longitudinal studies . A meta‐analysis of 29 035 participants with ASD found a 32% prevalence of regression of developmental and/or adaptive skills …”

mentioning

confidence: 99%

“…10 Further, regression, a salient feature of CDD, has also been described in ASD, including in prospective longitudinal studies. [11][12][13][14] A meta-analysis of 29 035 participants with ASD found a 32% prevalence of regression of developmental and/or adaptive skills. 15 However, there are several key differences between CDD and ASD both in symptom profile and in pattern of regression.…”

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confidence: 99%

Childhood disintegrative disorder and autism spectrum disorder: a systematic review

Mehra

Sil

Hedderly

et al. 2018

Develop Med Child Neuro

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Aim In an attempt to clarify the debate surrounding the diagnostic validity of childhood disintegrative disorder (CDD), we systematically reviewed its characteristics and compared it with autism spectrum disorder (ASD). Method Four databases were searched (PubMed, PsycINFO, Embase, and Web of Science). Included articles had participants with CDD, as defined by symptoms present in the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision and the International Classification of Diseases, 10th Revision. Comparison groups were those with ASD and ASD with regression. Case studies were excluded. Results Twenty articles, comprising 96 participants with CDD (80 males, 16 females), were included. Most studies were cross‐sectional. The prevalence of CDD was 1.1 to 9.2 per 100 000, with a mean age at regression of 3 years 2 months (SD 1y 1mo), with a range of 2 years to 7 years. In addition to core CDD symptoms, most had intellectual impairment, anxiety, challenging behaviours, and regressed in toileting skills. Participants with CDD and ASD shared core diagnostic and extra‐diagnostic features. However, participants with CDD seemed to have more severe symptoms and a different symptom profile, including apparently typical development before regression, faster regression, more affective symptoms, and more global developmental deficit. Possible genetic and autoimmune neurobiological mechanisms were identified. Interpretation There is limited high‐quality evidence describing the aetiology and outcomes of CDD. However, given the qualitative and prognostic differences between ASD and CDD, we recommend that future diagnostic criteria should distinguish late‐onset regression.

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Language regression is associated with faster early motor development in children with autism spectrum disorder

Manelis

Meiri²,

Ilan

et al. 2019

Autism Research

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Language regression (LR) is a consistent and reproducible phenomenon that is reported by ~25% of parents who have children with autism spectrum disorder (ASD). However, there is controversy regarding the etiological and clinical significance of this phenomenon. Here, we examined data from a cohort of 218 children with ASD from the Negev Autism Center in Israel. We identified 36 children with ASD who were reported to exhibit clear LR by their parent on three independent occasions and compared them to 104 children whose parents did not report any concern of regression (NR). We compared a variety of key developmental characteristics across these two groups. We found that the age at which children with ASD in the LR group achieve key developmental milestones of crawling, walking, and use of first words is significantly younger than the age of children in the NR group, and comparable to the age of typically developing children. In contrast, no differences were observed in physical growth characteristics such as head circumference, weight, or height between the groups. Furthermore, almost all children with LR were born close to full term (>35 weeks) and none had a history of hypotonia. Notably, despite their apparently typical early development, children with LR were diagnosed with more severe symptoms of ASD than children with NR. These results strengthen the motivation to continue and study LR among children with ASD and suggest that early detection and intervention studies of ASD may benefit from stratifying children into LR and NR groups. Autism Res 2020, 13: 145–156. © 2019 International Society for Autism Research, Wiley Periodicals, Inc.Lay SummaryThe presence of language regression (LR) among children with autism is still a matter of scientific debate. Here, we show that children with autism and reported LR start to crawl, talk, and walk at the same age as other typically developing children and significantly earlier than other children with autism. These findings, along with other medical differences between these groups, suggest that children who experienced LR comprise a distinct subgroup within the autism spectrum.

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Onset patterns in autism: Variation across informants, methods, and timing

Cited by 62 publications

References 35 publications

Regression in autism spectrum disorder: Reconciling findings from retrospective and prospective research

Regression in autism spectrum disorder: Reconciling findings from retrospective and prospective research

Childhood disintegrative disorder and autism spectrum disorder: a systematic review

Language regression is associated with faster early motor development in children with autism spectrum disorder

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