Naslov
A potential therapeutic approach to autism

Autori
Jagatic, Tomislav

Vrsta, podvrsta i kategorija rada
Ocjenski radovi, diplomski rad, diplomski

Fakultet
Medicinski fakultet

Mjesto
Zagreb

Datum
09.06

Godina
2011

Stranica
25

Mentor
Šimić, Goran

Ključne riječi
autism ; autistic spectrum disorder

Sažetak
Autism is a disorder that is defined clinically by three core features. The features are: impairments in reciprocal social interactions, an abnormal development and use of language, and repetitive and ritualized behaviours and narrow range of interests. However simple the basis of this disorder might appear it is, in fact, a very complex and heterogeneous disorder. Because of the wide array of comorbidities and the range of mental changes that have been witnessed, it has become more appropriate to redefine autism as Autism Spectrum Disorder (ASD), to acknowledge the wide array of clinical presentations associated with it. When autism was first described in 1943 by Kanner, it was defined via observation of the behaviour of various children. Initially it was identified as a psychological disease that could be treated with behavioural therapy. The evolution of research of autism followed closely the evolution of diagnostic tools. With the use of MRI imaging, noticeable differences in the size of the brain have been documented. Variations in the levels of different hormones ranging from serotonin to oxytocin have also been found. As the ability to look into the more complex physiological processes of the human body have become possible, the complexity of ASD has concomitantly risen. ASD can now be classified in a greater number of sub-categories as the essence of its anatomical, histological, genetic, and clinical features can be described with greater clarity. For example, when there is an absence in the delay of speech before the age 36 months and the IQ of the patient is found to be above 70, the patient is diagnosed with Aspergers Syndrome, but if a language delay goes beyond 36 months and all parameters stay the same, the patient is diagnosed with High Functioning Autism (HFA). The different clinical presentations have also been associated with respective physiological variations. General trends have been found to find an inversely proportional relationship between the amount of excess grey matter found and the severity of the disorder in ASD subjects versus typically developing subjects. In other words, the larger the brain, the more severe the presentation of ASD. Research has gone to the histological as well as the genetic level to show significant changes in structure and function of neurons. Neurons found in particular areas of the brain such as the cerebellum have been found to be smaller and more densely packed in ASD subjects which gave researchers guidance in uncovering a genetic basis for the disease. The genetic basis of neuronal development was found to be affected in various genes that encode for neurons. For example, SHANK3 mutations has shown to have a very strong correlation with the clinical features of ASD and further studies have uncovered many more genes with possible connections to the disorder. Some estimate hundreds of genes to have implications in the genesis of the disorder and the variations that exist upon presentation. Fields not directly related to the study have ASD have also shown probable implications of the its development. Research related to neuronal injury shows the healing properties of the brain and the steps it takes to compensate for injury. When the precocious brain growth found among ASD subjects is assumed to be an injurious process then the brains reaction to the injury can shed more clues to origin of the alterations found in both its anatomy and in the behaviour of the subject. The time of integration among various independent fields of research seems to be on the horizon. The complex and diverse presentations of ASD are directly related to the complex and diverse pathological processes associated with its origin. A greater understanding of the disease will allow for a more direct and focused approach towards finding a therapeutic end for this potentially debilitating disorder.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti, Kliničke medicinske znanosti, Psihologija, Kognitivna znanost (prirodne, tehničke, biomedicina i zdravstvo, društvene i humanističke znanosti)

POVEZANOST RADA