Organization of the human superior olivary complex in 15q duplication syndromes and autism spectrum disorders

Lukose, Richard; Beebe, K.; Kulesza, Randy J.

doi:10.1016/j.neuroscience.2014.11.033

Cited by 39 publications

(30 citation statements)

References 97 publications

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“…1 (B) Transverse section through the SOC of a neurotypical (NT) 8-year-old boy (Giemsa stain for Nissl substance, original magnification ×10). 48,49 (C) The same brainstem level from an 8-year-old boy with ASD. The MSO is recognized as a densely packed column of neurons (yellow).…”

Section: Noninvasive Tests Of Cochlear and Auditory Brainstem Functionmentioning

confidence: 99%

Structural and Functional Aberrations of the Auditory Brainstem in Autism Spectrum Disorder

Smith¹,

Storti²,

Lukose³

et al. 2019

Journal of Osteopathic Medicine

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Autism spectrum disorder (ASD) is a neurodevelopmental condition associated with difficulties in the social, communicative, and behavioral domains. Most cases of ASD arise from an unknown etiologic process, but there are numerous risk factors, including comorbidities and maternal exposures. Although it is not part of the diagnostic criteria, hearing difficulties ranging from deafness to hyperacusis are present in the majority of persons with ASD. High-functioning children with ASD have been found to have significantly slower and asymmetric auditory brainstem reflexes. Additionally, histopathological studies of postmortem brainstems in decedents who had ASD have consistently revealed significantly fewer neurons in auditory nuclei compared with those in people who did not have ASD. The authors review the literature implicating auditory dysfunction in ASD along with results from human study participants and postmortem human brain tissue. Together, these results implicate significant structural and functional abnormalities in the auditory brainstem in ASD and support the utility of auditory testing to screen for ASD.

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Section: Noninvasive Tests Of Cochlear and Auditory Brainstem Functionmentioning

confidence: 99%

Structural and Functional Aberrations of the Auditory Brainstem in Autism Spectrum Disorder

Smith¹,

Storti²,

Lukose³

et al. 2019

Journal of Osteopathic Medicine

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“…If the target neurons (or a subpopulation thereof) are absent or misplaced, then the initial circuit may be altered or show limited remodeling, thus impeding skill acquisition or maintenance [Borrell et al, 1999;Hong et al, 2000;Weeber et al, 2002]. In severe cases, neuronal migration disorders are the cause of epilepsy and intellectual disability [Crino, 2011;Hong et al, 2000;Lukose, Beebe, & Kulesza, 2015]. Little is known about milder phenotypes with a small fraction of misplaced neurons or missing neurons.…”

Section: Neurobiological Mechanisms Of Regressionmentioning

confidence: 99%

Loss of skills and onset patterns in neurodevelopmental disorders: Understanding the neurobiological mechanisms

et al. 2017

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Loss of previously acquired skills, or regression, has been reported in Autism Spectrum Disorder since Kanner's reports in the 1950's. The current report reflects discussion from an NIMH convened meeting in 2016 with the purpose of bridging clinical autism research with basic and translational work in this area. This summary describes the state of the field regarding clinical studies and suggests use of model systems during the developmental period and cutting-edge methods, for a better understanding of the neurobiological pathways that result in loss of previously-attained skills.

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Section: Does Asd Have Neurobiological Validity?mentioning

confidence: 99%

“…Studies of the brainstem in ASD have reported both typical and atypically smaller volumes of brainstem gray matter (Jou et al 2013). Despite evidence for abnormal auditory brainstem response (ABR) in ASD (Rosenhall et al 2003;Lukose et al 2015), Jou et al (2013) concluded that ASD brainstem studies were conflicting and inconclusive.Summary ASD global and regional brain structures are varied and do not provide brain structure biological validity for ASD.To date, no unitary atypical brain size or volume has been found for ASD, and no unitary atypical ASD regional brain structure has been found. Equally important, varied ASD electrophysiology findings (Billeci et al 2013) and varied ASD molecular neurochemistry findings (Zürcher et al 2015) stand against the idea that there is any shared single ASD brain impairment in electrophysiology or molecular neurochemistry.…”

mentioning

confidence: 99%

ASD Validity

Waterhouse

London

Gillberg

2016

Rev J Autism Dev Disord

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ASD research is at an important crossroads. The ASD diagnosis is important for assigning a child to early behavioral intervention and explaining a child's condition. But ASD research has not provided a diagnosis-specific medical treatment, or a consistent early predictor, or a unified life course. If the ASD diagnosis also lacks biological and construct validity, a shift away from studying ASD-defined samples would be warranted. Consequently, this paper reviews recent findings for the neurobiological validity of ASD, the construct validity of ASD diagnostic criteria, and the construct validity of ASD spectrum features. The findings reviewed indicate that the ASD diagnosis lacks biological and construct validity. The paper concludes with proposals for research going forward.Keywords DSM-5 . ASD . Autism . Diagnosis . Validity . Comorbidity . HeterogeneityThe goal of the DSM-3 nosology (American Psychiatric Association 1980) was to create reliable and standard categorical psychiatric diagnoses (Robins and Guze 1970). However, in the past 30 years, clinical, genetics, and neuroscience findings have revealed that the DSM diagnoses are not biologically valid. The National Institutes of Mental Health (NIMH) responded by proposing the Research Domain Criteria (RDoC) framework for a brain-based transdiagnostic psychiatric symptom nosology (Cuthbert and Insel 2013;Insel et al. 2010;Lilienfeld and Treadway 2016). Peterson (2015) and Weinberger et al. (2015) argued that the RDoC could not replace the DSM-5 psychiatric nosology (American Psychiatric Association 2013) or the parallel International Classification of Diseases (ICD) psychiatric nosology (World Health Organization 2012). But BFor the foreseeable future, RDoC is not envisioned as a system of psychiatric classification in its own right. Instead, in the near term, RDoC and DSM-ICD are expected to coexist. Nevertheless, RDoC is intended to provide scaffolding for a large-scale research program that will ultimately yield an alternative to DSM-ICD^ (Lilienfeld and Treadway 2016, p. 445).RDoC advocates accept that DSM-5/ICD psychiatric categories remain necessary in clinical practice, but argue that researchers should shift to RDoC study designs immediately. They assert that studying psychiatric categories lacking biological validity blocks the discovery of brain bases for psychopathology and thus cannot lead to effective medical treatments for specific psychiatric symptoms (Cuthbert and Insel 2013;Insel et al. 2010;Lilienfeld and Treadway 2016;Yee et al. 2015). Against this RDoC imperative for biological validity, Weinberger et al. (2015) countered that current DSM-5 psychiatric behavioral diagnoses were valid when they yielded effective medical treatment, clear prognosis, and a life course specific to a diagnosis.Autism spectrum disorder (ASD) research has been productive (Dawson 2016;de la Torre-Ubieta et al. 2016;Szatmari et al. 2016), but no ASD research findings have met the validity criteria of Weinberger et al. (2015). DSM-5 ASD research has found no s...

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Organization of the human superior olivary complex in 15q duplication syndromes and autism spectrum disorders

Cited by 39 publications

References 97 publications

Structural and Functional Aberrations of the Auditory Brainstem in Autism Spectrum Disorder

Structural and Functional Aberrations of the Auditory Brainstem in Autism Spectrum Disorder

Loss of skills and onset patterns in neurodevelopmental disorders: Understanding the neurobiological mechanisms

ASD Validity

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