Yale Journal of Biology and Medicine – Focus : Autism Spectrum Disorders (Mars 2015)
le Numéro de mars 2015 du Yale Journal of Biology and Medicine est consacré à l’autisme.
1. Ardhanareeswaran K, Volkmar F. Introduction. Yale J Biol Med ;2015 ;88(1):3-4.
2. Ardhanareeswaran K, Coppola G, Vaccarino F. The Use of Stem Cells to Study Autism Spectrum Disorder. Yale J Biol Med ;2015 (Mar) ;88(1):5-16.
Autism spectrum disorder (ASD) affects as many as 1 in 68 children and is said to be the fastest-growing serious developmental disability in the United States. There is currently no medical cure or diagnostic test for ASD. Furthermore, the U.S. Food and Drug Administration has yet to approve a single drug for the treatment of autism’s core symptoms. Despite numerous genome studies and the identification of hundreds of genes that may cause or predispose children to ASD, the pathways underlying the pathogenesis of idiopathic ASD still remain elusive. Post-mortem brain samples, apart from being difficult to obtain, offer little insight into a disorder that arises through the course of development. Furthermore, ASD is a disorder of highly complex, human-specific behaviors, making it difficult to model in animals. Stem cell models of ASD can be generated by performing skin biopsies of ASD patients and then dedifferentiating these fibroblasts into human-induced pluripotent stem cells (hiPSCs). iPSCs closely resemble embryonic stem cells and retain the unique genetic signature of the ASD patient from whom they were originally derived. Differentiation of these iPSCs into neurons essentially recapitulates the ASD patient’s neuronal development in a dish, allowing for a patient-specific model of ASD. Here we review our current understanding of the underlying neurobiology of ASD and how the use of stem cells can advance this understanding, possibly leading to new therapeutic avenues.
3. Rolison MJ, Naples AJ, McPartland JC. Interactive Social Neuroscience to Study Autism Spectrum Disorder. Yale J Biol Med ;2015 (Mar) ;88(1):17-24.
Individuals with autism spectrum disorder (ASD) demonstrate difficulty with social interactions and relationships, but the neural mechanisms underlying these difficulties remain largely unknown. While social difficulties in ASD are most apparent in the context of interactions with other people, most neuroscience research investigating ASD have provided limited insight into the complex dynamics of these interactions. The development of novel, innovative « interactive social neuroscience » methods to study the brain in contexts with two interacting humans is a necessary advance for ASD research. Studies applying an interactive neuroscience approach to study two brains engaging with one another have revealed significant differences in neural processes during interaction compared to observation in brain regions that are implicated in the neuropathology of ASD. Interactive social neuroscience methods are crucial in clarifying the mechanisms underlying the social and communication deficits that characterize ASD.
4. Port RG, Anwar AR, Ku M, Carlson GC, Siegel SJ, Roberts TP. Prospective MEG Biomarkers in ASD : Pre-Clinical Evidence and Clinical Promise of Electrophysiological Signatures. Yale J Biol Med ;2015 (Mar) ;88(1):25-36.
Autism spectrum disorders (ASD) are characterized by social impairments and restricted/stereotyped behaviors and currently affect an estimated 1 in 68 children aged 8 years old. While there has been substantial recent focus on ASD in research, both the biological pathology and, perhaps consequently, a fully effective treatment have yet to be realized. What has remained throughout is the hypothesis that ASD has neurobiological underpinnings and the observation that both the phenotypic expression and likely the underlying etiology is highly heterogeneous. Given the neurodevelopmental basis of ASD, a biologically based marker (biomarker) could prove useful not only for diagnostic and prognostic purposes, but also for stratification and response indices for pharmaceutical development. In this review, we examine the current state of the field for MEG-related biomarkers in ASD. We describe several potential biomarkers (middle latency delays [M50/M100], mismatch negativity latency, gamma-band oscillatory activity), and investigate their relation to symptomology, core domains of dysfunction (e.g., language impairment), and putative biological underpinnings.
5. Ventola PE, Oosting DR, Keifer CM, Friedman HE. Toward Optimal Outcome Following Pivotal Response Treatment : A Case Series. Yale J Biol Med ;2015 (Mar) ;88(1):37-44.
There is a growing literature on children with autism spectrum disorder (ASD) who respond favorably to behavioral treatment, which is often termed « optimal outcome. » Rates and definitions of optimal outcome vary widely. The current case series describes an empirically validated behavioral treatment approach called Pivotal Response Treatment (PRT). We present two preschool-aged children who received an intensive course of PRT and seem to be on a trajectory toward potential optimal outcome. Understanding response to treatment and predictors of response is crucial, not necessarily to predict who may succeed, but to individualize medicine and match children with customized treatment programs that will be best tailored to their unique and varied needs.
6. Gelbar NW, Shefyck A, Reichow B. A comprehensive survey of current and former college students with autism spectrum disorders. Yale J Biol Med ;2015 (Mar) ;88(1):45-68.
BACKGROUND : There is a paucity of research concerning individuals with autism spectrum disorders (ASD) pursuing higher education. METHOD : This study sought to augment this gap in the literature by surveying individuals with ASD who are currently college students or who have previously attended college. RESULTS : Thirty-five individuals completed an online survey. These individuals reported receiving extensive academic supports that enabled their academic success. Their reported difficulties in the social and emotional domains received less support. In addition, not all areas of campus life were supportive, as study abroad and career service offices were reported to not understand individuals with ASD. CONCLUSIONS : Overall, the results of this survey indicate the importance of self-advocacy and the need for institutions of higher education to provide comprehensive supports for individuals with ASD in the academic, social, and emotional domains in order to effectively integrate this group into the campus environment.
7. Grapel JN, Cicchetti DV, Volkmar FR. Sensory features as diagnostic criteria for autism : sensory features in autism. Yale J Biol Med ;2015 (Mar) ;88(1):69-71.
In this study, we examined the frequency of sensory-related issues as reported by parents in a large sample of school-age adolescents and adults with autism/autism spectrum disorder (ASD) [1] as compared to a group of individuals receiving similar clinical evaluations for developmental/behavioral difficulties but whose final diagnoses were not on the autism spectrum. In no comparison were the features examined predictive of autism or autism spectrum in comparison to the non-ASD sample. Only failure to respond to noises had sensitivity above .75 in the comparison of the broader autism spectrum group, but specificity was poor. While sensory issues are relatively common in autism/ASD, they are also frequent in other disorders. These results question the rationale for including sensory items as a diagnostic criterion for autism.
8. Klin A, Wetherby AM, Woods J, Saulnier C, Stapel-Wax J, Klaiman C, Jones W, Rubin E, Scahill L, Call N, Bearss K, Gunter C, Courtemanche CJ, Lemieux A, Cox JC, Mandell DS, Van Decar JP, Miller RA, Shireman CL. Toward Innovative, Cost-Effective, and Systemic Solutions to Improve Outcomes and Well-Being of Military Families Affected by Autism Spectrum Disorder. Yale J Biol Med ;2015 (Mar) ;88(1):73-79.
The burdens faced by military families who have a child with autism are unique. The usual challenges of securing diagnostic, treatment, and educational services are compounded by life circumstances that include the anxieties of war, frequent relocation and separation, and a demand structure that emphasizes mission readiness and service. Recently established military autism-specific health care benefits set the stage for community-viable and cost-effective solutions that can achieve better outcomes for children and greater well-being for families. Here we argue for implementation of evidence-based solutions focused on reducing age of diagnosis and improving access to early intervention, as well as establishment of a tiered menu of services, individualized to the child and family, that fit with the military ethos and system of health care. Absence of this new model of care could compromise the utility and sustainability of the autism-specific benefit.
9. van Schalkwyk GI, Klingensmith K, Volkmar FR. Gender Identity and Autism Spectrum Disorders. Yale J Biol Med ;2015 (Mar) ;88(1):81-83.
In this review, we briefly summarize much of the existing literature on gender-related concerns and autism spectrum disorders (ASD), drawing attention to critical shortcomings in our current understanding and potential clinical implications. Some authors have concluded that gender identity disorder (GID), or gender dysphoria (GD), is more common in individuals with ASD, providing a range of potential explanations. However, existing literature is quantitatively limited, and our capacity to draw conclusions is further complicated by conceptual challenges regarding how gender identity is best understood. Discourses that emphasize gender as a component of identity formation are gaining prominence and seem particularly salient when applied to ASD. Individuals with ASD should enjoy equal rights with regard to treatment for gender dysphoria. Clinicians may be able to assist individuals in understanding this aspect of their identity by broadening the social frame and facilitating an exploration of gender roles.
