ReviewEarly detection of autism spectrum disorders: From retrospective home video studies to prospective ‘high risk’ sibling studies
Introduction
Autism is a neurodevelopmental disorder with childhood onset. Although the new version of the Diagnostic Manual (DSM 5) enables symptoms to be recognized later in childhood, when more challenging demands highlight the child's social and communicative impairments, autism spectrum disorders (ASD) are considered one of the most heritable neurodevelopmental conditions with early onset. For this reason, many studies in the past two decades have focused on identifying pre-clinical signs and indicators, which may manifest themselves early in life. Around the world, different scientists and research groups have addressed this subject both from a biological and behavioral point of view. This high motivation for identifying the earliest signs of emergence of the disorder is related to the possibility of improving early screening and implementing early interventions. In fact it has been demonstrated that a significant proportion of children receiving intensive intervention early in life make outstanding progress, with autism symptoms diminishing and developmental outcomes improving (Dawson, 2008, Dawson et al., 2012).
In the current review we present the existing literature on early autism, from the first retrospective studies by Massie (Massie, 1978, Massie and Rosenthal, 1984) to the more recent prospective studies conducted on younger siblings of autistic children, describing from a historical prospective the methodological changes that have characterized the different studies and have led to the achievement of more precise descriptions. The aim of this review is to orient researchers in their choice of the most appropriate methodology for their purpose. For this reason we highlighted the pros and cons of each approach.
This systematic review involved an analysis of retrospective and prospective studies, and was conducted by two reviewers independently on Pubmed and PsycInfo databases, with the following combined keywords: autism, parental reports, home movies, prospective studies, screening tools, siblings, early identification. Subsequently, the bibliographies of the papers identified were screened for earlier articles cited in the papers, and the citation indexes were screened for later articles citing the included papers (see Fig. 1). The final sample of articles was then divided into six categories, based on the type of methodologies used: home movies (HM), parental reports (PR), screening tools (SCR), studies focused on the developmental surveillance of siblings through multiple assessment (SUR), studies which implemented technologies (TEC), studies which focused on the observation of early behavioral signs of ASD (OBS). In Table 1 (Supplementary Material), we present our final sample, divided into categories and classified in a chronological order.
Section snippets
Retrospective studies: parental reports and home movies
Retrospective studies, based on the coding of home movies (recorded by parents during their children's early years, prior to receiving a diagnosis of autism) and on parental reports, offer the opportunity to study the early onset and development of autism.
Prospective studies: screening tools and sibling studies
The first studies on siblings of autism probands were cross-sectional family studies that looked at recurrence risk and genetic segregation or linkage. After the seminal paper of Folstein and Rutter (1977), other twin studies have demonstrated that autism is highly heritable (Bailey et al., 1995, Ronald and Hoekstra, 2011, Steffenburg et al., 1989, Taniai et al., 2008). Widening criteria to include also those individuals who presented the broader autism phenotype (BAP henceforth) has shown that
Conclusions
Historically retrospective studies, based on parental reports and home movies, helped to investigate the development of autism spectrum disorders, and focus attention on possible predictors of later emerging symptoms (e.g. the presence of atypical behaviors or the absence of typical developmental milestones), helping to design the first screening instruments. Nowadays retrospective methods continue to be used to complete information acquired through other design methods such as prospective
Acknowledgements
Supported by the Italian Ministry of Health Grant (GR3), Young Researcher 2008, “Non-invasive tools for early detection of Autism Spectrum Disorders” and the CCM 2012 grant “Italian Network for early detection of Autism Spectrum Disorders” (Fasc. 4M11).
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These authors contributed equally to this work.
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These authors also contributed equally to this work.