scholarly journals Affording autism an early brain development re-definition

2020 ◽  
Vol 32 (4) ◽  
pp. 1175-1189
Author(s):  
Ami Klin ◽  
Megan Micheletti ◽  
Cheryl Klaiman ◽  
Sarah Shultz ◽  
John N. Constantino ◽  
...  

AbstractThe national priority to advance early detection and intervention for children with autism spectrum disorder (ASD) has not reduced the late age of ASD diagnosis in the US over several consecutive Centers for Disease Control and Prevention (CDC) surveillance cohorts, with traditionally under-served populations accessing diagnosis later still. In this review, we explore a potential perceptual barrier to this enterprise which views ASD in terms that are contradicted by current science, and which may have its origins in the current definition of the condition and in its historical associations. To address this perceptual barrier, we propose a re-definition of ASD in early brain development terms, with a view to revisit the world of opportunities afforded by current science to optimize children's outcomes despite the risks that they are born with. This view is presented here to counter outdated notions that potentially devastating disability is determined the moment a child is born, and that these burdens are inevitable, with opportunities for improvement being constrained to only alleviation of symptoms or limited improvements in adaptive skills. The impetus for this piece is the concern that such views of complex neurodevelopmental conditions, such as ASD, can become self-fulfilling science and policy, in ways that are diametrically opposed to what we currently know, and are learning every day, of how genetic risk becomes, or not, instantiated as lifetime disabilities.

Nature ◽  
2017 ◽  
Vol 542 (7641) ◽  
pp. 348-351 ◽  
Author(s):  
Heather Cody Hazlett ◽  
◽  
Hongbin Gu ◽  
Brent C. Munsell ◽  
Sun Hyung Kim ◽  
...  

Genes ◽  
2020 ◽  
Vol 11 (5) ◽  
pp. 535
Author(s):  
Yujin Kim ◽  
Joon-Yong An

Transcriptional regulation of the genome arguably provides the basis for the anatomical elaboration and dynamic operation of the human brain. It logically follows that genetic variations affecting gene transcription contribute to mental health disorders, including autism spectrum disorder (ASD). A number of recent studies have shown the role of de novo variants (DNVs) in disrupting early neurodevelopment. However, there is limited knowledge concerning the role of inherited variants during the early brain development of ASD. In this study, we investigate the role of rare inherited variations in neurodevelopment. We conducted co-expression network analyses using an anatomically comprehensive atlas of the developing human brain and examined whether rare coding and regulatory variants, identified from our genetic screening of Australian families with ASD, work in different spatio-temporal functions.


2017 ◽  
Vol 22 (1) ◽  
pp. 9-14 ◽  
Author(s):  
Justin K. Chen ◽  
Brittany L. Martin-McNew ◽  
Lisa M. Lubsch

OBJECTIVES Tracheitis is an infection of the lower respiratory tract and is defined by the US Centers for Disease Control and Prevention (CDC) based on signs and symptoms with no radiographic evidence of pneumonia. One method of treatment involves the use of tobramycin given by nebulizer. The purpose of this study was to compare the safety and efficacy of nebulized gentamicin with nebulized tobramycin. METHODS This study was conducted in patients under 21 years of age who received greater than or equal to 1 day of gentamicin, 80 mg, or tobramycin, 300 mg, given twice a day by nebulization within the 14-month study period. The primary endpoint was amount of time until the patient no longer met the CDC definition of tracheitis. RESULTS There were 19 patients who presented with 60 separate encounters. The average age of the patients within the gentamicin group was 7.2 and 5 years old within the tobramycin group. The average duration of time for the gentamicin treatment encounters to be free of the CDC definition of tracheitis was 3.36 days compared to 3.17 days with tobramycin. No adverse effects were observed that were attributable to aminoglycoside nebulization. CONCLUSIONS No differences were detected between the safety and efficacy of intravenous gentamicin administered twice a day by nebulizer and that of tobramycin inhalation solution given twice daily in children without cystic fibrosis.


PEDIATRICS ◽  
1978 ◽  
Vol 61 (5) ◽  
pp. 783-785
Author(s):  
David W. Smith ◽  
Michael J. Greely

A relationship has been deduced between aberrant scalp hair directional patterning and problems in early brain development and function. The unusual scalp hair patterns noted by Smith and Gong1,2 were frontal upsweep and aberrant parietal whorl(s). The purpose of this article is to report a third type of unusual scalp hair patterning, unruly hair over the top of the scalp, and its association with problems in brain development. This feature was initially observed by Freund in 1910,3 who noted its association with neuropathic dysfunction in infants. METHODS The definition of unruly hair is that which naturally and persistently tends to stand up over the top of the head from the area of the posterior parietal whorl toward the frontal hairline.


Author(s):  
Volker Scheid

This chapter explores the articulations that have emerged over the last half century between various types of holism, Chinese medicine and systems biology. Given the discipline’s historical attachments to a definition of ‘medicine’ that rather narrowly refers to biomedicine as developed in Europe and the US from the eighteenth century onwards, the medical humanities are not the most obvious starting point for such an inquiry. At the same time, they do offer one advantage over neighbouring disciplines like medical history, anthropology or science and technology studies for someone like myself, a clinician as well as a historian and anthropologist: their strong commitment to the objective of facilitating better medical practice. This promise furthermore links to the wider project of critique, which, in Max Horkheimer’s definition of the term, aims at change and emancipation in order ‘to liberate human beings from the circumstances that enslave them’. If we take the critical medical humanities as explicitly affirming this shared objective and responsibility, extending the discipline’s traditional gaze is not a burden but becomes, in fact, an obligation.


Author(s):  
Marina Aleksandrovna Kalievskaya

In this article, a model of the mechanism of ensuring public security and orderliness in accordance with the principles and tasks of the relevant institu- tions in public administration, taking into account resources, technologies, mea- sures for the state policy implementation in the spheres of ensuring the protection of human rights and freedoms, the interests of society and the state, combating crime, maintaining public security and order. It was found that ensuring public security and order in Ukraine is a mechanism for the implementation of national goals of state policy in the areas of ensuring the protection of human rights and freedoms, the interests of society and the state, combating crime, maintaining public security and order, by defining tasks according to certain principles. The idea is that if one considers the state policy in the spheres of ensuring the protec- tion of human rights and freedoms, the interests of society and the state, combat- ing crime, maintaining public security and order as a national priority (purpose, task), then the mechanism of ensuring public security and order in Ukraine needs coordination with the state development strategy. From the point of view of the implementation of the state policy in the areas of ensuring the protection of hu- man rights and freedoms, the interests of society and the state, combating crime, maintaining public security and order, the mechanism of ensuring public security and order in Ukraine can be considered as the main system providing intercon- nection such elements as institutions (implementing the specified state policy), resources (human resources, logistical, natural and so on, with the help of which it is possible to implement state policy), technologies (skills, knowledge, means and so on the implementation of state policy), measures (action plans), as well as external (internal) threats.


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