Developmental Spectrum Disorder Research Articles

Author response: The autism “epidemic”: Ethical, legal, and social issues in a developmental spectrum disorder

We thank Machado et al. for the comments on our review,1 and for the observations of abnormal anatomic and functional connectivity using diffusion-weighted MRI (DW-MRI). Innumerable studies have compared patients with autism spectrum disorders (ASD) and nonaffected controls at rest or while performing particular tasks, most often in small selected subject samples. For example, studies linked autism with the retino-collicular magnocellular visual pathways that project via the pulvinar to the amygdala, occipital V1, and multiple other areas, including the dorsal occipito-parietal/midtemporal streams, which participate with the frontal eye fields in processing spatial attention, moving targets, and dynamic facial expression (with inputs from the amygdala and other limbic pathways).2 However, no results consistently demonstrated specific neural networks that are uniquely pathognomonic of autism in the brain despite the fact that broad networks were linked with deficient social cognition in autism.3 Complex behaviors, like ASD, do not have a single endophenotype linked to one discrete neocortical location.4 The critical need for more research in autism should be balanced by caution about generalizing interpretations of neuroimaging findings that suggest the dysregulation of specific neural pathways. At present, DW-MRI and similar techniques, such as diffusion compartment imaging, are considered beneficial for research but not for routine clinical diagnostics.

Letter re: The autism "epidemic": Ethical, legal, and social issues in a developmental spectrum disorder.

Graf et al.1 wrote an interesting review on autism spectrum disorder (ASD), emphasizing the term “autism epidemic,” supported by an editorial.2 Among other factors, increasing ASD diagnoses can be attributed to broader diagnostic criteria and the recognition of ASD existence differentiated from other neurodevelopmental diseases.2–4 One important issue, defended by the authors, is early screening and diagnosis with emphasis on the evolving practice of genetic testing for ASD.1

Editors' Note

Editors' Note: In “Long-term cerebral white and gray matter changes after preeclampsia,” the authors found that preeclampsia was associated with chronic temporal lobe white matter changes and reduced cortical volume in young women; the changes were consistent with persistent inflammation. Dr. Culebras proposes that sleep apnea may be a contributing factor as pregnancy increases the risk of sleep apnea, which leads to inflammation and vascular morbidities, all of which may persist after pregnancy. Authors Siepmann et al. note that recent research shows an increased risk of stroke in patients with obstructive sleep apnea, possibly facilitated by intermittent hypoxia and vascular dysregulation. These mechanisms may relate to the authors' findings given the autonomic neurovascular dysfunction caused by preeclampsia. In “The autism ‘epidemic’: Ethical, legal, and social issues in a developmental spectrum disorder,” the authors emphasized the importance of early screening and diagnosis of autism spectrum disorder (ASD). Machado et al. recommend assessing anatomic brain connectivity using the diffusion-weighted MRI technique and functional brain connectivity using EEG coherence calculations as part of the ASD diagnostic workup. Authors Graf et al. caution against this practice, citing that many studies fail to consistently implicate a specific neural network responsible for autism. The authors conclude that techniques such as those described by Machado et al. have a role in ASD research, but not yet in its routine clinical diagnosis. —Megan Alcauskas, MD, and Steven Galetta, MD Editors' Note: In “Long-term cerebral white and gray matter changes after preeclampsia,” the authors found that preeclampsia was associated with chronic temporal lobe white matter changes and reduced cortical volume in young women; the changes were consistent with persistent inflammation.

The autism "epidemic": Ethical, legal, and social issues in a developmental spectrum disorder.

Classic autism has gradually evolved into the concept of a larger "spectrum disorder." The rising prevalence of autism and autism spectrum disorder (autism/ASD) diagnoses can be largely attributed to broader diagnostic criteria, adoption of dimensional assessment strategies, increased awareness, linking of services to diagnosis, and the inclusion of milder neurodevelopmental differences bordering on normality. The spectrum disorder diagnosis raises numerous bioethical issues for individuals and society. Three groups of caregivers have important ethical, legal, and social obligations to individuals with autism/ASD: (1) families and advocates of individuals with autism/ASD; (2) health care and other professionals; and (3) governments. Each group may have different views of autism/ASD diagnostic criteria, screening, testing, and the effectiveness of various interventions. All see timely diagnosis as desirable, but earlier diagnosis may not be better, morally or practically. The growing practice of genetic testing in milder ASD raises ethical questions because of its uncertain scientific validity and limited clinical utility. Individuals with autism/ASD have various kinds of needs but all want acceptance and most deserve better accommodations. Governments struggle to provide a fair allocation of appropriate special education and supportive services. This article examines the evolving dimensions of the autism/ASD diagnosis, outlines certain bioethics principles related to its evaluation and management, reviews relevant laws and disability rights, and emphasizes the societal obligation to recognize neurodevelopmental variation and human neurodiversity. Future directions in the evaluation and care of autism/ASD should attempt to integrate the roles and responsibilities of all agents caring for each unique autistic individual.