Abstract
Background: Autism spectrum disorders (ASDs) are developmental conditions of uncertain etiology which have now affected more than 1% of the school-age population of children in many developed nations. Transcranial ultrasonography (TUS) via the temporal bone appeared to be a potential window of investigation to determine the presence of both cortical abnormalities and increased extra-axial fluid (EAF).Methods: TUS was accomplished using a linear probe (10–5 MHz). Parents volunteered ASD subjects (N = 23; males 18, females 5) for evaluations (mean = 7.46 years ± 3.97 years), and 15 neurotypical siblings were also examined (mean = 7.15 years ± 4.49 years). Childhood Autism Rating Scale (CARS2®) scores were obtained and the ASD score mean was 48.08 + 6.79 (Severe).Results: Comparisons of the extra-axial spaces indicated increases in the ASD subjects. For EAF we scored based on the gyral summit distances between the arachnoid membrane and the cortical pia layer (subarachnoid space): (1) <0.05 cm, (2) 0.05–0.07 cm, (3) 0.08–0.10 cm, (4) >0.10 cm. All of the neurotypical siblings scored 1, whereas the ASD mean score was 3.41 ± 0.67. We also defined cortical dysplasia as the following: hypoechoic lesions within the substance of the cortex, or disturbed layering within the gray matter. For cortical dysplasia we scored: (1) none observed, (2) rare hypoechogenic lesions and/or mildly atypical cortical layering patterns, (3) more common, but separated areas of cortical hypoechogenic lesions, (4) very common or confluent areas of cortical hypoechogenicity. Again all of the neurotypical siblings scored 1, while the ASD subjects’ mean score was 2.79 ± 0.93.Conclusion: TUS may be a useful screening technique for children at potential risk of ASDs which, if confirmed with repeated studies and high resolution MRI, provides rapid, non-invasive qualification of EAF, and cortical lesions.
Highlights
Autism and related spectrum disorders (ASDs) have become common childhood developmental disorders which greatly impact the individual’s quality of life
Of the neurotypical siblings measured, none presented with issues related to increased extra-axial fluid (EAF) or CD: whereas all but one of the autism subjects (22 of 23) had evidence of grade 2 or greater cortical dysplasia apparent at the squama temporalis bone (ST) window related cortex (BA44 and 22) (Table 2)
For EAF, all 23 autistic subjects demonstrated increased EAF at the gyral summits when compared to neurotypical siblings
Summary
Autism and related spectrum disorders (ASDs) have become common childhood developmental disorders which greatly impact the individual’s quality of life. While the prevalence data from different countries is difficult to compare due to data collection methodologies, it is generally accepted the U.S data is reflective of trends observed in other developed nations Given these prevalence data, more widely accessible methods of quantifying early central nervous system abnormalities are urgently needed. Pathophysiology and histopathological standards are not widely accepted, and observations based on formalin-fixed brains (brain-banked specimens) may lose features present in living tissues. Despite these limitations, various pathologies have been observed in the histology of ASDs. Of interest to our evaluations, cortical dysplasias, most of which could not be explained by either abnormal neurogenesis or defective neuronal migration, were reported in 13 age-matched autism cases (Wegiel et al, 2010). Transcranial ultrasonography (TUS) via the temporal bone appeared to be a potential window of investigation to determine the presence of both cortical abnormalities and increased extra-axial fluid (EAF)
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