Josephine Barbaro

Autism Spectrum Disorders in infancy and toddlerhood : a review of the evidence on early signs, early identification tools, and early diagnosis.

To date, the biological basis of autism spectrum disorders (ASDs) remains unknown. Thus, identification and diagnosis are reliant on behavioral presentation and developmental history. There have been significant advances in our knowledge of the early signs of ASD through the use of retrospective videotape analysis, parental report, screening studies, and more recently, studies on high-risk infant siblings. Despite behavioral markers being identified within the first year of life, the current average age of diagnosis for ASD remains at approximately 3 years or older. Consequently, these children are not receiving intervention in their early years, which is increasingly recognized as an important time to begin intervention. There remains little research on the prospective identification of these children in a community-based sample before 18 months. It is recommended that future prospective studies monitor behavior repeatedly over time, thereby increasing the opportunity to identify early manifestations of ASD and facilitating the charting of subtle behavioral changes that occur in the development of infants and toddlers with ASD.

Prospective identification of autism spectrum disorders in infancy and toddlerhood using developmental surveillance: the social attention and communication study.

Objective: Despite behavioral markers of autism spectrum disorders (ASDs) being evident within the first year of life, there remains little research on the prospective identification of these children in a community-based setting before 18 months. The aim in the Social Attention and Communication Study was to identify infants and toddlers at risk of an ASD during their first 2 years. Methods: A total of 241 Maternal and Child Health nurses were trained on the early signs of ASDs at 8, 12, 18 and 24 months. Using a developmental surveillance approach with a community-based sample, a cohort of 20,770 children was monitored on early social attention and communication behaviors. Those infants/toddlers identified as “at risk” were referred to the Social Attention and Communication Study team from 12 months for developmental and diagnostic assessments at 6 monthly intervals, until 24 months. Results: A total of 216 children were referred, with 110 being further assessed. Of these, 89 children were classified with an ASD at 24 months, and 20 children had developmental and/or language delays, resulting in a Positive Predictive value of 81%. The estimated rate of ASDs in the Social Attention and Communication Study cohort ranged from 1:119 to 1:233 children. Estimated sensitivity ranged from 69% to 83.8%, and estimated specificity ranged from 99.8% to 99.9%. Conclusion: Developmental surveillance of social and communication behaviors, which differ according to the age at which the child is monitored, enables the accurate identification of children at risk for ASDs between 12 and 24 months. Education on the early signs is recommended for all primary health care professionals to facilitate early identification of ASDs.

Early markers of autism spectrum disorders in infants and toddlers prospectively identified in the Social Attention and Communication Study

The Social Attention and Communication Study involved the successful implementation of developmental surveillance of the early markers of autism spectrum disorders in a community-based setting. The objective in the current study was to determine the most discriminating and predictive markers of autism spectrum disorders used in the Social Attention and Communication Study at 12, 18 and 24 months of age, so that these could be used to identify children with autism spectrum disorders with greater accuracy. The percentage of ‘yes/no’ responses for each behavioural marker was compared between children with autistic disorder (n = 39), autism spectrum disorder (n = 50) and developmental and/or language delay (n = 20) from 12 to 24 months, with a logistic regression also conducted at 24 months. Across all ages, the recurring key markers of both autistic disorder and autism spectrum disorder were deficits in eye contact and pointing, and from 18 months, deficits in showing became an important marker. In combination, these behaviours, along with pretend play, were found to be the best group of predictors for a best estimate diagnostic classification of autistic disorder/autism spectrum disorder at 24 months. It is argued that the identified markers should be monitored repeatedly during the second year of life by community health-care professionals.

Developmental Surveillance of Infants and Toddlers by Maternal and Child Health Nurses in an Australian Community-Based Setting: Promoting the Early Identification of Autism Spectrum Disorders

Although signs of autism spectrum disorders (ASDs) are evident during the first year of life, few children are diagnosed prior to 3 years. The objective in this article is to highlight the role that primary health care professionals can play in the early identification of ASDs by briefly outlining the successful implementation of The Social Attention and Communication Study. Maternal and child health nurses were trained on the early signs of ASDs, which enabled them to identify these children prior to 2 years. The training procedure used will be outlined, and the early signs that were monitored will be explained in detail. It is recommended that routine monitoring for ASDs in infancy and toddlerhood become standard practice among all primary health care professionals.

Intellectual development in Autism Spectrum Disorders : new insights from longitudinal studies.

The presence/absence of Intellectual Disability (ID) is considered to be the most critical factor affecting outcomes in individuals with Autism Spectrum Disorders (ASD). However, the question of the specific nature of ID in ASD has received little attention, with the current view being that ID is a comorbid condition (i.e., one that is unrelated in etiology and causality from the ASD itself). Recent advances in developmental neuroscience, highlighting the importance of early exposure to social experiences for cognitive development, support an alternative view; that ID in ASD might emerge as a consequence of severe social-communication deficits on the experience-dependent mechanisms underlying neurocognitive development. We tested this prediction in two independent samples of young children with ASD (Ns = 23 and 60), finding that children with greater ASD severity at an initial assessment were more likely to present with poorer cognitive outcomes at a later assessment, irrespective of initial cognitive level. The results of this proof of principle study suggest that ASD symptom severity contributes to the extent to which the environmental input required to support “typical” brain development can be processed by the individual, so that the risk of developing ID increases as the number and severity of ASD social-communicative impairments increase.

Autism screening and diagnosis in low resource settings: Challenges and opportunities to enhance research and services worldwide.

Most research into the epidemiology, etiology, clinical manifestations, diagnosis and treatment of autism is based on studies in high income countries. Moreover, within high income countries, individuals of high socioeconomic status are disproportionately represented among participants in autism research. Corresponding disparities in access to autism screening, diagnosis, and treatment exist globally. One of the barriers perpetuating this imbalance is the high cost of proprietary tools for diagnosing autism and for delivering evidence‐based therapies. Another barrier is the high cost of training of professionals and para‐professionals to use the tools. Open‐source and open access models provide a way to facilitate global collaboration and training. Using these models and technologies, the autism scientific community and clinicians worldwide should be able to work more effectively and efficiently than they have to date to address the global imbalance in autism knowledge and at the same time advance our understanding of autism and our ability to deliver cost‐effective services to everyone in need. Autism Res 2015, 8: 473–476.

Mapping the diagnosis of autism spectrum disorders in children aged under 7 years in Australia, 2010-2012.

Objectives: To investigate the frequency and age at diagnosis of autism spectrum disorder (ASD) in children aged under 7 years living in Australia.

Early Identification of Autism Spectrum Disorder: Current Challenges and Future Global Directions

There has been extensive research on the early identification of autism spectrum disorder (ASD). Given that early detection is vital for the delivery of early intervention, which can positively impact children’s developmental outcomes, it is unfortunate that many children around the world continue to be diagnosed much later than is possible. This may be partly due to discrepancy in the development and availability of culturally specific screening and developmental surveillance tools both between and within countries. The purpose of this article is to review the current status, and recommend future directions, for the early identification of ASD worldwide, by (a) briefly summarising the core early markers of ASD identified in previous reviews; (b) highlighting the current challenges for screening and surveillance of ASD; (c) exploring future directions focusing on increasing awareness of ASD, and the development and adaptation of early identification tools in different settings and countries around the globe.Key Messages/Points• Global imbalance in the knowledge of ASD based on geography, culture and socioeconomic status.• Developing culturally appropriate and psychometrically robust early identification tools for ASD still remains a challenge.• Global collaborative approach for tool development, adaptation, and knowledge dissemination.

Continuity and Change in Cognition and Autism Severity from Toddlerhood to School Age

This paper charted the cognitive and behavioural profiles from toddlerhood to middle childhood in 48 children diagnosed with ASD at 24-months. The Mullen Scales of Early Learning (MSEL) was administered at 24- and 48-months and the Wechsler Abbreviated Scale of Intelligence (WASI) at school age. Autism severity was derived using The Autism Diagnostic Observation Schedule (ADOS) Results: Developmental Disability/Intellectual Disability (DD/ID; Developmental Quotient <70) reduced from 64% at 24-months to 8% at outcome. Seventy-three percent of children continued to meet ADOS cut-off at school age. Conclusion: Diagnoses at 24-months, appear to be reliable and stable. Further research is needed to investigate whether early identification, which provides more opportunity to access early intervention, may in turn facilitate cognitive development over time.

Diagnostic Stability of Autism Spectrum Disorder in Toddlers Prospectively Identified in a Community-Based Setting: Behavioural Characteristics and Predictors of Change over Time.

Autism spectrum disorder diagnoses in toddlers have been established as accurate and stable across time in high-risk siblings and clinic-referred samples. Few studies have investigated diagnostic stability in children prospective identified in community-based settings. Furthermore, there is a dearth of evidence on the individual behaviours that predict diagnostic change over time. The stability and change of autism spectrum disorder diagnoses were investigated from 24 to 48 months in 77 children drawn from the Social Attention and Communication Study. Diagnostic stability was high, with 88.3% overall stability and 85.5% autism spectrum disorder stability. The behavioural markers at 24 months that contributed to diagnostic shift off the autism spectrum by 48 months included better eye contact, more directed vocalisations, the integration of gaze and directed vocalisations/gestures and higher non-verbal developmental quotient. These four variables correctly predicted 88.7% of children into the autism spectrum disorder–stable and autism spectrum disorder–crossover groups overall, with excellent prediction for the stable group (96.2%) and modest prediction for the crossover group (44.4%). Furthermore, non-verbal developmental quotient at 24 months accounted for the significant improvement across time in ‘Social Affect’ scores on the Autism Diagnostic Observation Schedule for both groups and was the only unique predictor of diagnostic crossover. These findings contribute to the body of evidence on the feasibility of diagnoses at earlier ages to facilitate children’s access to interventions to promote positive developmental outcomes.