1. Brandler WM, Sebat J. {{From de novo mutations to personalized therapeutic interventions in autism}}. {Annu Rev Med}. 2015; 66: 487-507.
The high heritability, early age at onset, and reproductive disadvantages of autism spectrum disorders (ASDs) are consistent with an etiology composed of dominant-acting de novo (spontaneous) mutations. Mutation detection by microarray analysis and DNA sequencing has confirmed that de novo copy-number variants or point mutations in protein-coding regions of genes contribute to risk, and some of the underlying causal variants and genes have been identified. As our understanding of autism genes develops, the spectrum of autism is breaking up into quanta of many different genetic disorders. Given the diversity of etiologies and underlying biochemical pathways, personalized therapy for ASDs is logical, and clinical genetic testing is a prerequisite.
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2. Singh SJ, Iacono T, Gray KM. {{Interactions of pre-symbolic children with developmental disabilities with their mothers and siblings}}. {Int J Lang Commun Disord}. 2015.
BACKGROUND: Depending on the severity of their disabilities, children with Down syndrome (DS) and with cerebral palsy (CP) may remain pre-symbolic for prolonged periods of time. When interacting with pre-symbolic children, communication partners have a role in identifying which of their behaviours are communicative, to be able to respond to those behaviours and maintain reciprocal interaction. To date, most research on these children’s communication development has been conducted within the context of mother-child interaction. Seldom have they been observed interacting with other family members, and in interactions other than dyadic, despite these interactions also occurring daily. AIMS: To explore and compare the interaction of mothers and siblings with pre-symbolic children with DS and with CP in dyadic and triadic contexts. METHODS & PROCEDURES: Twelve pre-symbolic children with DS (aged 1;10-5;04 years) and 12 with CP (aged 1;09-5;07 years), and their mothers and siblings participated in this study. They were recruited from early intervention centres from the West Coast of Peninsular Malaysia. Children were observed as they engaged in three play interactions: mother-child, sibling-child and mother-sibling-child (triadic). OUTCOMES & RESULTS: Children produced the most pre-symbolic communicative behaviours during mother-child, followed by triadic and lastly sibling-child interaction, suggesting that the mother’s presence encouraged children to communicate. Mothers created a more facilitative communication environment for the children than did siblings, by directing high rates of initiations towards them and by taking turns that paved the way for the child’s next turn. Although siblings’ low rates of interaction did not provide children with as many opportunities to produce communicative behaviours, it encouraged them to produce high proportions of initiations. During triadic interaction, mothers and siblings had to direct interaction towards two communication partners, causing them to direct less interaction towards the children with DS or CP. There was no significant difference in mother and sibling responsiveness to children’s communicative behaviours across interactions and disability types, suggesting that mothers and siblings might have adapted to the children’s various early communicative behaviours. CONCLUSIONS & IMPLICATIONS: From this study, it was evident that mothers and siblings of pre-symbolic children with DS and with CP engaged them in reciprocal interaction. Findings on how mothers and siblings influence pre-symbolic children’s communication suggest the need to involve them in assessment and intervention for these children.
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3. Taylor LJ, Maybery MT, Grayndler L, Whitehouse AJ. {{Evidence for shared deficits in identifying emotions from faces and from voices in autism spectrum disorders and specific language impairment}}. {Int J Lang Commun Disord}. 2015.
BACKGROUND: While autism spectrum disorder (ASD) and specific language impairment (SLI) have traditionally been conceptualized as distinct disorders, recent findings indicate that the boundaries between these two conditions are not clear-cut. While considerable research has investigated overlap in the linguistic characteristics of ASD and SLI, relatively less research has explored possible overlap in the socio-cognitive domain, particularly in terms of the emotion recognition abilities of these two groups of children. AIMS: To investigate facial and vocal emotion recognition in children with ASD, children with SLI and typically developing (TD) children. To do so, the ASD group was subdivided into those with ‘normal’ (ALN) and those with ‘impaired’ (ALI) language to explore the extent to which language ability influenced performance on the emotion recognition task. METHODS & PROCEDURES: Twenty-nine children with ASD (17 ALN and 12 ALI), 18 children with SLI and 66 TD children completed visual and auditory versions of an emotion recognition task. For the visual version of the task, the participants saw photographs of people expressing one of six emotions (happy, sad, scared, angry, surprised, disgusted) on the whole face. For the auditory modality, the participants heard a neutral sentence that conveyed one of the six emotional expressions in the tone of the voice. In both conditions, the children were required to indicate how the person they could see/hear was feeling by selecting a cartoon face that was presented on the computer screen. OUTCOMES & RESULTS: The results showed that all clinical groups were less accurate than the TD children when identifying emotions on the face and in the voice. While the ALN children were less accurate than the TD children only when identifying expressions that require inferring another’s mental state (surprise, disgust) emotional expressions, the ALI and the SLI children were less accurate than the TD children when identifying the basic (happy, sad, scared, angry) as well as the inferred emotions. CONCLUSIONS & IMPLICATIONS: The results indicate that children with ALI and children with SLI share emotion recognition deficits, which are likely to be driven by the poor language abilities of these two groups.
