Early identification and diagnosis in autism spectrum disorders in young children and infants: How early is too early?

https://doi.org/10.1016/j.rasd.2007.03.002Get rights and content

Abstract

An area of research with autism spectrum disorders (ASD), which has received a considerable amount of attention recently is early diagnosis. This phenomenon is due largely to encouraging results from intensive intervention programs for children at very young ages. While five types of ASD exist, efforts in this area have focused almost exclusively on autism. To date, the primary methods of identification have been evidence-based assessment scales using established criteria for differential diagnosis and cognitive/developmental descriptive studies, which attempt to tease out behavior patterns of infants who later evince ASD from their normally developing counterparts. A third focus, which is in early development, involves genetic studies aimed at establishing biological links. However, at present such procedures are not viable for diagnosis. Opinions are rendered on the earliest age at which children can be reliably diagnosed at present, and a review of practical considerations is provided. Future challenges and directions in ASD identification and diagnosis are discussed.

Introduction

In the last decade, one of the major developments in the study of autism spectrum disorders (ASD) has been the recognition that young children can benefit from psychological interventions primarily involving operant conditioning (i.e., Applied Behavior Analysis; Cannella, O’Reilly, & Lancioni, 2006; Ellis, Ala’i-Rosales, Glenn, & Rosales-Ruiz, 2006; Green et al., 2006; Matson & Minshawi, 2006a; Symes, Remington, Brown, & Hastings, 2006). Studies initially involved single case designs with a few discrete target behaviors such as stereotypies, self-help skills, initiating responses, and eye contact. Over time these procedures have evolved into control outcome studies, often of 20–40 h in duration per week over a period of months (Eikeseth, Smith, Jahr, & Eldevik, 2002; Lovaas, 1987; Matson, Matson, & Rivet, in press; Matson, Sevin, Fridley, & Love, 1990; Matson, Taras, Sevin, Love, & Fridley, 1990; Smith, Groen, & Wynn, 2000; Whittingham, Sofronoff, & Sheffield, 2006). Perhaps the most controversial claim from these studies on comprehensive programs, of which the UCLA-Young Autism Project is arguably the most visible, is the notion that these children's disorders have been cured. This claim is in contrast to others who have argued that this disorder is chronic and persistent (Howlin, Mawhood, & Rutter, 2000). However, regardless of cure or no cure, little debate lingers regarding the potential for marked gains in socialization, communication, and intellectual test scores (Baird et al., 2001). Many specific core symptoms of ASD are yet to be addressed in these outcome studies (Matson, 2007a), despite the fact that generally agreed-upon core symptoms of communication, social skills, and behaviors problems (e.g., stereotypies, self-injury) have been identified (Holden & Gitlesen, 2006; Schreck & Williams, 2006; Selfe, 2002). Therefore, while a great deal still needs to be learned about how effective these early intervention programs are on specific core symptoms of ASD, preliminary results are encouraging.

As a result of these findings on early intervention, particular impetus, and urgency has been given to the notion that the earlier the child can be identified and treated, the better the long-term outcome. Initial efforts following up these children a few months or years after the initial training provide some but not uniform support for this hypothesis (Matson & Minshawi, 2006a). Other reasons that early identification may be desirable include enabling genetic counseling to parents regarding having more children, to discuss parental concerns and give them information, and to provide psychological support (Williams & Brayne, 2006).

This thinking however is also reflected in nosology. The commonly accepted notion is that onset occurs prior to 30 months of age – a position that has been held for some time (Lund & Jensen, 1989). Irregularity in the attainment of developmental milestones, comorbid psychopathology, and the presence of challenging behaviors can all complicate the diagnostic picture however (Matson & Minshawi, 2007; Matson & Nebel-Schwalm, 2007). Thus, while on the surface of the issue, such goals appear practical, in application they can be quite complicated and hard to attain.

Section snippets

How early is too early?

Fifty percent of parents report features of autism in their children by 2 years of age and 93 percent indicate recognition of symptoms by age 3. Similarly, Asperger's syndrome, while being recognized later than autism, is also noted early by parents, although diagnosis does not typically occur until 11 years of age (Howlin & Asgharian, 1999). About half of these children with autism, conversely, are diagnosed by 5 or 6 years of age in the United Kingdom, while in the United States the average

Infant behaviors that may be diagnostic of ASD

Given that autism and other ASD are routinely diagnosed at 3–4 years of age, moving the bar to earlier ages may require considerable investigation. Osterling and Dawson (1994), for example, stated that developmental patterns of ASD children in the first 18 months of life have largely been a mystery. Initial efforts to describe variations in the behavior of children with ASD compared to normally developing children were based on retrospective parent report once a diagnosis had already been made.

Children with regressive autism

An important diagnostic issue for young children that has been frequently acknowledged but infrequently addressed is normal patterns of development up to 18–30 months followed by marked regression. Within a short time interval, children may lose most or all of their speech, regress in socialization, and develop “autistic-like” behaviors such as lack of eye contact, fixation on objects, and ritualistic behaviors. The observation of this phenomenon is not new. Ritvo (1978), for example, noted

Follow-up of early diagnosis

Perhaps the strongest methodology developed to date confirming early diagnosis, is to follow the young children to see if there are consistent diagnosis labels for specific groups of children over time (Stone et al., 1999). A potential problem, particularly as more children are enrolled in early intervention programs, is whether such interventions markedly affect stability of diagnoses. If they do, this particular method of confirming early diagnosis may be markedly compromised in the future as

Methods of identification and diagnosis

Some experts have flatly stated that there are no definitive diagnostic tests for autism (Wing & Potter, 2002). Nonetheless, the use of reliable and valid scales is considered indispensable for identification and diagnosis of ASD (Lund & Jensen, 1989; Matson, 2007b; Matson, Nebel-Schwalm, & Matson, 2007). With particularly young children, some researchers have hedged their bets by referring to their measures as methods of screening for at-risk children versus actually serving as a method for

Conclusions

An important aspect of research in this area is to proceed with caution and compile ample research evidence before drawing conclusions. For example, Bristol-Power and Spinella (1999) note that “dramatic advances have been made in behavioral diagnostic criteria, lowering the potential age of diagnosis from 5 years to 18 months” (p. 436). While the authors clearly use the word “potential”, the meaning appears to be that reliable and valid diagnosis at 18 months is possible. However, more recently

References (61)

  • J.L. Matson et al.

    A review of methodological issues in the differential diagnosis of autism spectrum disorders in children: Diagnostic systems and scaling methods

    Research in Autism Spectrum Disorders

    (2007)
  • K.A. Schreck et al.

    Food preferences and factors influencing food selectivity for children with autism spectrum disorders

    Research in Developmental Disabilities

    (2006)
  • M.D. Symes et al.

    Early intensive behavioral Intensive behavioral intervention for children with autism: Therapist's perspectives on achieving procedural fidelity

    Research in Developmental Disabilities

    (2006)
  • K. Whittingham et al.

    Stepping stones triple p: A pilot study to evaluate acceptability of the program by parents of a child diagnosed with autism spectrum disorder

    Research in Developmental Disabilities

    (2006)
  • American Academy of Pediatrics, Committee on Children with Disabilities

    Screening infants and young children for developmental disabilities

    Pediatrics

    (1994)
  • G. Baird et al.

    Screening and surveillance for autism and pervasive developmental disorders

    Archives of Disease in Childhood

    (2001)
  • G.T. Baranek

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

    Journal of Autism and Developmental Disorders

    (1999)
  • S. Baron-Cohen et al.

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

    British Journal of Psychiatry

    (1992)
  • S. Baron-Cohen et al.

    Psychological markers of autism at 18 months of age in a large population

    British Journal of Psychiatry

    (1996)
  • M.M. Bristol-Power et al.

    Research on screening and diagnosis in autism: A work in progress

    Journal of Autism and Developmental Disorders

    (1999)
  • T. Charman

    Theory of mind and the early diagnosis of autism

  • T. Charman et al.

    Commentary: The modified Checklist for Autism in Toddlers

    Journal of Autism and Developmental Disorders

    (2001)
  • T. Charman et al.

    Predicting language outcome in infants with autism and pervasive developmental disorders

    International Journal of Language and Communication Disorders

    (2003)
  • S.O. Dahlgren et al.

    Symptoms in the first 2 years of life: A preliminary population study of infantile autism

    European Archives of Psychiatry and Neurological Sciences

    (1989)
  • M.K. DeMyer

    Parents and children in autism

    (1979)
  • P.H. Dworkin

    British and American recommendations for developmental monitoring: The role of surveillance

    Pediatrics

    (1989)
  • L.C. Eaves et al.

    The very early identification of autism: Outcome at age 4 1/2–5

    Journal of Autism and Developmental Disorders

    (2004)
  • S. Eikeseth et al.

    Intensive behavioral treatment at school for 4–7 year old children with autism. A 1-year comparison controlled study

    Behavior Modification

    (2002)
  • P.A. Filipek et al.

    The screening and diagnosis of autism spectrum disorders

    Journal of Autism and Developmental Disorders

    (1999)
  • E. Fombonne et al.

    No evidence for a new variant of measles-mumps-rubella-induced autism

    Pediatrics

    (2001)
  • Cited by (124)

    • Comorbid Behavior Problems Among Youth With Intellectual and Developmental Disabilities: A Developmental Focus

      2018, International Review of Research in Developmental Disabilities
      Citation Excerpt :

      Indeed, behavior problems are reported to be the most common reasons for referral to mental health clinics in young children (Keenan & Wakschlag, 2000; Luby & Morgan, 1997). Although there have been immense efforts towards earlier identification and treatment of neurodevelopmental disabilities (Guralnick, 2016; Matson, Wilkins, & González, 2008), it should be noted that an ASD or ID diagnosis is not yet reliable at very early ages. Research has shown that a diagnosis of autism at 2 years of age can be reliable (Johnson & Myers, 2007; Lord, Risi, DiLavore, Shulman, Thurm, & Pickles, 2006).

    View all citing articles on Scopus
    View full text