Review
Early detection of autism spectrum disorders: From retrospective home video studies to prospective ‘high risk’ sibling studies

https://doi.org/10.1016/j.neubiorev.2015.06.006Get rights and content

Highlights

  • We present an exhaustive review of methods used to investigate early signs of ASD.

  • We focused on the methodological changes that have characterized studies over years.

  • Pros and cons of different methodological approaches are discussed.

Abstract

In the autism spectrum disorders (ASD) field of research there is scientific consensus on the importance of early identification (and subsequently, of timely treatment) for a better prognosis. For this reason, early diagnosis represents a common challenge for clinicians and an area of great interest for researchers.

In the past decades, many studies have focused on identifying subclinical signs of ASD with different types of experimental designs and methods, both retrospectively and prospectively. The purpose of this narrative review is to present changes in methodology, from a historical point of view, highlighting the strengths and weaknesses of different research designs. Conclusions are drawn taking into account potentialities of prospective designs for the study of early predictors of ASD.

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.

. List of articles selected for this review, divided into categories and classified in a chronological order. Legend: HM – home movies; PR – parental reports; SCR – screening tools; SUR – studies focused on the developmental surveillance of siblings through multiple assessment; TEC – studies which implemented technologies; OBS – studies which focused on the observation of early behavioral signs of ASD.

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).

References (160)

  • G. Esposito et al.

    An exploration of symmetry in early autism spectrum disorders: analysis of lying

    Brain Dev.

    (2009)
  • G. Esposito et al.

    Analysis of unsupported gait in toddlers with autism

    Brain Dev.

    (2011)
  • T.T. Gipson et al.

    Early neurodevelopmental screening in tuberous sclerosis complex: a potential window of opportunity

    Pediatr. Neurol.

    (2014)
  • V. Guinchat et al.

    Very early signs of autism reported by parents include many concerns not specific to autism criteria

    Res. Autism Spectr. Disord.

    (2012)
  • K. Holmboe et al.

    Frontal cortex functioning in the infant broader autism phenotype

    Infant Behav. Dev.

    (2010)
  • S. Maestro et al.

    Attentional skills during the first 6 months of age in autism spectrum disorder

    J. Am. Acad. Child Adolesc. Psychiatry

    (2002)
  • A.E. Mars et al.

    Symptoms of pervasive developmental disorders as observed in prediagnostic home videos of infants and toddlers

    J. Pediatr.

    (1998)
  • L. Abbeduto et al.

    The fragile X syndrome-autism comorbidity: what do we really know?

    Front. Genet.

    (2014)
  • B.S. Abrahams et al.

    Advances in autism genetics: on the threshold of a new neurobiology

    Nat. Rev. Genet.

    (2008)
  • J.L. Adrien et al.

    Validity and reliability of the infant behavioral summarized evaluation (IBSE): a rating scale for the assessment of young children with autism and developmental disorders

    J. Autism Dev. Disord.

    (1992)
  • F. Apicella et al.

    Reciprocity in interaction: a window on the first year of life in autism

    Autism Res. Treat.

    (2013)
  • A. Bailey et al.

    Autism as a strongly genetic disorder: evidence from a British twin study

    Psychol. Med.

    (1995)
  • G.T. Baranek

    Autism during infancy: a retrospective video analysis of sensory-motor and social behaviors at 9–12 months of age

    J. Autism Dev. Disord.

    (1999)
  • G.T. Baranek et al.

    Object play in infants with autism: methodological issues in retrospective video analysis

    Am. J. Occup. Ther.

    (2005)
  • S. Baron-Cohen et al.

    Can autism be detected at 18 months? The needle, the haystack, and the CHAT

    Br. J. Psychiatry

    (1992)
  • S. Baron-Cohen et al.

    Psychological markers in the detection of autism in infancy in a large population

    Br. J. Psychiatry

    (1996)
  • A.T. Berg et al.

    Risk and correlates of autism spectrum disorder in children with epilepsy: a community-based study

    J. Child Neurol.

    (2011)
  • A.N. Bhat et al.

    Social and non-social visual attention patterns and associative learning in infants at risk for autism

    J. Child Psychol. Psychiatry

    (2010)
  • M. Brimacombe et al.

    Prenatal and birth complications in autism

    Matern. Child Health J.

    (2007)
  • S.E. Bryson et al.

    The autism observation scale for infants: scale development and reliability data

    J. Autism Dev. Disord.

    (2008)
  • J. Carayol et al.

    Autism risk assessment in siblings of affected children using sex-specific genetic scores

    Mol. Autism

    (2011)
  • F. Carmagnat-Dubois et al.

    Rett syndrome and autism. Early comparative evaluation for signs of autism using family movies

    Encephale

    (1997)
  • T.D. Cassel et al.

    Early social and emotional communication in the infant siblings of children with autism spectrum disorders: an examination of the broad phenotype

    J. Autism Dev. Disord.

    (2007)
  • K. Chawarska et al.

    Parental recognition of developmental problems in toddlers with autism spectrum disorders

    J. Autism Dev. Disord.

    (2007)
  • C. Chlebowski et al.

    Large-scale use of the modified checklist for autism in low-risk toddlers

    Pediatrics

    (2013)
  • S.M. Chow et al.

    Dynamic infant–parent affect coupling during the face-to-face/still-face

    Emotion

    (2010)
  • L. Christensen et al.

    Play and developmental outcomes in infant siblings of children with autism

    J. Autism Dev. Disord.

    (2010)
  • S.M. Clifford et al.

    The early development of joint attention in infants with autistic disorder using home video observations and parental interview

    J. Autism Dev. Disord.

    (2008)
  • S. Clifford et al.

    Assessing the early characteristics of autistic disorder using video analysis

    J. Autism Dev. Disord.

    (2007)
  • D. Cohen et al.

    Do parentese prosody and fathers’ involvement in interacting facilitate social interaction in infants who later develop autism?

    PLOS ONE

    (2013)
  • S.E. Colgan et al.

    Analysis of social interaction gestures in infants with autism

    Child Neuropsychol.

    (2006)
  • J.N. Constantino et al.

    Sibling recurrence and the genetic epidemiology of autism

    Am. J. Psychiatry

    (2010)
  • L. Cornew et al.

    Atypical social referencing in infant siblings of children with autism spectrum disorders

    J. Autism Dev. Disord.

    (2012)
  • C.R. Damiano et al.

    What do repetitive and stereotyped movements mean for infant siblings of children with autism spectrum disorders?

    J. Autism Dev. Disord.

    (2013)
  • G. Dawson

    Early behavioral intervention, brain plasticity, and the prevention of autism spectrum disorder

    Dev. Psychopathol.

    (2008)
  • A. De Giacomo et al.

    Parental recognition of developmental abnormalities in autism

    Eur. Child Adolesc. Psychiatry

    (1998)
  • J.L. Demark et al.

    Behavioral relationship between autism and fragile x syndrome

    Am. J. Ment. Retard.

    (2003)
  • M. Dereu et al.

    Screening for autism spectrum disorders in Flemish day-care centres with the checklist for early signs of developmental disorders, 2010

    J. Autism Dev. Disord.

    (2010)
  • M. Dereu et al.

    How useful are screening instruments for toddlers to predict outcome at age 4? General development, language skills, and symptom severity in children with a false positive screen for autism spectrum disorder

    Eur. Child Adolesc. Psychiatry

    (2012)
  • R.R. Dietert et al.

    Environmental risk factors for autism

    Emerg. Health Threats J.

    (2011)
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