1. Abrams L, Cronister A, Brown WT, Tassone F, Sherman SL, Finucane B, McConkie-Rosell A, Hagerman R, Kaufmann WE, Picker J, Coffey S, Skinner D, Johnson V, Miller R, Berry-Kravis E. {{Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X}}. {Pediatrics};2012 (Nov 5)
Fragile X syndrome, diagnosed by Fragile X Mental Retardation 1 (FMR1) DNA testing, is the most common single-gene cause of inherited intellectual disability. The expanded CGG mutation in the FMR1 gene, once thought to have clinical significance limited to fragile X syndrome, is now well established as the cause for other fragile X-associated disorders including fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome in individuals with the premutation (carriers). The importance of early diagnostic and management issues, in conjunction with the identification of family members at risk for or affected by FMR1 mutations, has led to intense discussion about the appropriate timing for early identification of FMR1 mutations. This review includes an overview of the fragile X-associated disorders and screening efforts to date, and discussion of the advantages and barriers to FMR1 screening in newborns, during childhood, and in women of reproductive age. Comparison with screening programs for other common genetic conditions is discussed to arrive at action steps to increase the identification of families affected by FMR1 mutations.
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2. O’Haire ME. {{Animal-Assisted Intervention for Autism Spectrum Disorder: A Systematic Literature Review}}. {J Autism Dev Disord};2012 (Nov 5)
The inclusion of animals in therapeutic activities, known as animal-assisted intervention (AAI), has been suggested as a treatment practice for autism spectrum disorder (ASD). This paper presents a systematic review of the empirical research on AAI for ASD. Fourteen studies published in peer-reviewed journals qualified for inclusion. The presentation of AAI was highly variable across the studies. Reported outcomes included improvements for multiple areas of functioning known to be impaired in ASD, namely increased social interaction and communication as well as decreased problem behaviors, autistic severity, and stress. Yet despite unanimously positive outcomes, most studies were limited by many methodological weaknesses. This review demonstrates that there is preliminary « proof of concept » of AAI for ASD and highlights the need for further, more rigorous research.
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3. Richmond LL, Thorpe M, Berryhill ME, Klugman J, Olson IR. {{Individual differences in autistic trait load in the general population predict visual working memory performance}}. {Q J Exp Psychol (Hove)};2012 (Nov 5)
Prior studies have reported instances of both intact and impaired working memory (WM) performance in people with autism spectrum disorder (ASD). In order to investigate the relation between autistic traits that extend into the normal population and WM, 104 normal college-aged students who varied in their levels of autistic traits were tested. The loading of ASD-associated traits in the normal population leads to differing predictions about WM performance. ASD traits related to a local processing style (or « attention to detail ») might enhance WM while ASD-associated traits related to difficulty switching attention and reorienting focus (or « social interaction ») might impair WM performance. To assess these predictions, participants filled out the Autism Spectrum Quotient (AQ) and performed a working memory task with both visual and verbal variants. AQ scores were then broken into « attention to detail » and « social interaction » factors, as proposed by Hoekstra and colleagues. The results showed that AQ scores did not predict verbal WM performance but they did predict visual WM performance. The social interaction and attention to detail factors of the AQ had opposing relationships with visual WM performance: A higher level of social difficulty was associated with significantly poorer visual WM performance while a higher level of attention to detail was associated with enhanced visual WM performance. Further investigation of the relation between AQ and WM using the original five-factor model proposed by Baron-Cohen and colleagues (2001) revealed an association between impoverished imagination and visual WM overall.
