Podcast: Can people with autism lose their diagnosis?
Phelan-McDermid syndrome (PMS), a monogenic form of autism spectrum disorder (ASD), results from deletion or mutation of the SHANK3 gene. Atypical sensory reactivity is now included in the diagnostic criteria for ASD. Examining the sensory phenotype in monogenic forms of ASD, such as PMS, may help identify underlying mechanisms of sensory reactivity. Using the Short Sensory Profile, the current study compared sensory reactivity in 24 children with PMS to 61 children with idiopathic ASD (iASD). Results suggest that children with PMS show more low energy/weak symptoms and less sensory sensitivity as compared to children with iASD. This study is the first to demonstrate differences in sensory reactivity between children with PMS and iASD, helping to refine the PMS phenotype.
Keywords: 22q13 deletion syndrome; Autism; Autism spectrum disorder; Phelan–McDermid syndrome; Sensory profile; Sensory reactivity.
Sensory reactivity is a new DSM-5 criterion for autism spectrum disorder (ASD). The current study aims to validate a clinician-administered sensory observation in ASD, the Sensory Processing Scale Assessment (SPS). The SPS and the Short Sensory Profile (SSP) parent-report were used to measure sensory reactivity in children with ASD (n = 35) and typically developing children (n = 27). Sixty-five percent of children with ASD displayed sensory reactivity symptoms on the SPS and 81.1 % on the SSP. SPS scores significantly predicted SSP scores. We next identified the five SPS tasks that best differentiated groups. Our results indicate that a combination of parent-report and at least the five most differentiating observational tasks may be most sensitive in identifying the presence of sensory reactivity issues.
Keywords: Autism spectrum disorder; New DSM-5 criterion; Sensory Processing Scale Assessment; Sensory reactivity.
There are inconsistent findings regarding parent and teacher agreement on behavioral ratings of their children with autism. One possible reason for this inconsistency is that studies have not taken autism severity into account. This study examined parent and teacher concordance of social behavior based on symptom severity for children with autism. Participants were 123 parent-teacher dyads who completed the Social Responsiveness Scale. Symptom severity was assessed using the Autism Diagnostic Observation Schedule (ADOS). Results indicated that parent and teacher ratings were statistically significantly correlated at the beginning and end of the academic year, but only for severely affected children. Teacher report of social deficits was correlated with symptom severity as measured by the ADOS; parent report was not. These findings have implications for improving assessment procedures and parent-teacher collaboration.
Keywords: Social Responsiveness Scale; autism; autism spectrum disorder; parent-teacher relationships; social behavior.
Introduction of the National Institute of Mental Health’s Research Domain Criteria and revision of diagnostic classification for Autism Spectrum Disorder in the latest diagnostic manual call for a new way of conceptualizing heterogeneous ASD features. We propose a novel conceptualization of ASD, borrowing from the schizophrenia literature in clustering ASD features along positive, negative, and cognitive dimensions. We argue that this dimensional conceptualization can offer improved ability to classify, diagnose, and treat, to apply and predict response to treatment, and to explore underlying neural and genetic alterations that may contribute to particular feature clusters. We suggest the proposed conceptualization can advance the field in a manner that may prove clinically and biologically useful for understanding and addressing heterogeneity within ASD.
Keywords: Autism spectrum disorder; Classification; Diagnosis; Heterogeneity; RDoC; Symptoms.