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Inter-rater reliability and stability of diagnoses of autism spectrum disorder in children identified through screening interpretation of social cues is compromised in
... Two symptom dimensions, deficits in social communication/interaction (SCI) and the presence of restricted/repetitive behaviors (RRBs), are the core features of the disorder (American Psychiatric Association 2013). The ASD diagnosis has high interrater reliability (van Daalen et al. 2009;Lord et al. 2012) and temporal stability ( Lord et al. 2006;Chawarska et al. 2009;van Daalen et al. 2009), with only a small percentage of cases identified in early childhood no longer meeting diagnostic criteria in later childhood, adolescence, or adulthood ( Billstedt et al. 2005;Fein et al. 2013). Yet, individual behavioral presentations are highly variable (Eaves and Ho 2008) and largely driven by cognitive level, which can range from severely impaired to very superior ability. ...
... Two symptom dimensions, deficits in social communication/interaction (SCI) and the presence of restricted/repetitive behaviors (RRBs), are the core features of the disorder (American Psychiatric Association 2013). The ASD diagnosis has high interrater reliability (van Daalen et al. 2009;Lord et al. 2012) and temporal stability ( Lord et al. 2006;Chawarska et al. 2009;van Daalen et al. 2009), with only a small percentage of cases identified in early childhood no longer meeting diagnostic criteria in later childhood, adolescence, or adulthood ( Billstedt et al. 2005;Fein et al. 2013). Yet, individual behavioral presentations are highly variable (Eaves and Ho 2008) and largely driven by cognitive level, which can range from severely impaired to very superior ability. ...
This review examines our current understanding of autism spectrum disorder (ASD), its prevalence, impact, behavioral treatment, and outcomes. Building on this knowledge, ASD associated with PTEN mutations is introduced and recent human studies of neurobehavioral and neuroimaging findings in patients with PTEN mutations with and without ASD are reviewed. In doing so, we present evidence supporting a model of PTEN loss leading to neurobehavioral deficits, including ASD and intellectual disability. Next, we describe the neurobehavioral spectrum observed across PTEN mutation cases, adding specificity where possible, based on data from recent studies of child and adult PTEN patients. Finally, we end with a discussion of potential clinical recommendations for improving interventions and supports for people with PTEN-ASD and future research avenues for understanding and treating the functional and cognitive deficits in PTEN-ASD.
... by van Daalen et al. (2009) found that the inter-rater reliability and stability of the diagnoses of ASD in 131 pre-schoolers at age 23 months were good. However, data in South Africa revealed late identification and diagnosis of ASD. ...
This article examines early developmental histories of learners who attended a government-funded school for children with autism spectrum disorder (ASD) in South Africa from 1992 to 2014. A total of 141 complete historical admission records of learners were analysed. Frequencies, means and correlations were determined for perinatal conditions and developmental milestones. Low birth weight and preterm birth did not occur more than in the general South African population. Only 7.6% of the participants had delayed motor development. Self-help skills, except for feeding, were mostly achieved according to typical developmental criteria. Half of the participants started talking after the age of three years and that was the main reason why parents became concerned about their development. The percentage of participants who were non-verbal and had regressed speech was higher than that reported in other studies. Public information should focus on early developmental factors associated with ASD risk to expedite early identification and diagnosis.
Autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD) frequently co-occur. The presence of a genetic link between ASD and ADHD symptoms is supported by twin studies, but the genetic overlap between clinically ascertained ASD and ADHD remains largely unclear. We therefore investigated how ASD and ADHD co-aggregate in individuals and in families to test for the presence of a shared genetic liability and examined potential differences between low- and high-functioning ASD in the link with ADHD. We studied 1 899 654 individuals born in Sweden between 1987 and 2006. Logistic regression was used to estimate the association between clinically ascertained ASD and ADHD in individuals and in families. Stratified estimates were obtained for ASD with (low-functioning) and without (high-functioning) intellectual disability. Individuals with ASD were at higher risk of having ADHD compared with individuals who did not have ASD (odds ratio (OR)=22.33, 95% confidence interval (CI): 21.77–22.92). The association was stronger for high-functioning than for low-functioning ASD. Relatives of individuals with ASD were at higher risk of ADHD compared with relatives of individuals without ASD. The association was stronger in monozygotic twins (OR=17.77, 95% CI: 9.80–32.22) than in dizygotic twins (OR=4.33, 95% CI: 3.21–5.85) and full siblings (OR=4.59, 95% CI: 4.39–4.80). Individuals with ASD and their relatives are at increased risk of ADHD. The pattern of association across different types of relatives supports the existence of genetic overlap between clinically ascertained ASD and ADHD, suggesting that genomic studies might have underestimated this overlap.
Past research is inconsistent in the stability of autism spectrum disorder (ASD) diagnoses. The authors therefore sought to examine the proportion of children identified from a population-based surveillance system that had a change in classification from ASD to non-ASD and factors associated with such changes.
Children with a documented age of first ASD diagnosis noted in surveillance records by a community professional (n = 1392) were identified from the Autism and Developmental Disabilities Monitoring Network. Children were considered to have a change in classification if an ASD was excluded after the age of first recorded ASD diagnosis. Child and surveillance factors were entered into a multivariable regression model to determine factors associated with diagnostic change.
Only 4% of our sample had a change in classification from ASD to non-ASD noted in evaluation records. Factors associated with change in classification from ASD to non-ASD were timing of first ASD diagnosis at 30 months or younger, onset other than developmental regression, presence of specific developmental delays, and participation in a special needs classroom other than autism at 8 years of age.
Our results found that children with ASDs are likely to retain an ASD diagnosis, which underscores the need for continued services. Children diagnosed at 30 months or younger are more likely to experience a change in classification from ASD to non-ASD than children diagnosed at 31 months or older, suggesting earlier identification of ASD symptoms may be associated with response to intervention efforts or increased likelihood for overdiagnosis.
The diagnostic stability of Autism Spectrum Disorders (ASD) at very young ages continues to be debated, despite empirical evidence that ASDs can be reliably diagnosed in children under the age of 3 years. This topic is of the upmost importance given that early intervention increases long-term outcomes in this population.
The goal of the current study was to examine the stability of symptoms of ASD between two assessment times for 114 toddlers. The following was compared from the first to second assessment: diagnostic classification stability, correlations between scores and the impact of time between the first and second assessment.
Significant correlations were found for toddlers as young as 18 months of age. In addition, even with up to a year between assessment intervals, symptoms of ASD were relatively stable prior to 3 years of age.
Implications of the current findings are discussed.
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