Transcranial parenchymal sonography in patients with Chronic Disorders of Consciousness: Association with neuroimaging data,and beyond

Differential diagnosis of patients with Chronic Disorders of Consciousness (DoC) is rather challenging, owing to the lack of objective approaches highlighting residual awareness. Sophisticated functional neuroimaging have provided high diagnostic value, but their application in the clinical setting is limited due to their relative complexity, cost, availability and poor collaboration of persons with DoC. By using a specific ultrasound-based methodology, namely Transcranial B-mode Parenchymal Sonography (TCS), it is possible to obtain images of the main parenchymal brain structures. We assessed the TCS abnormalities in three patients with DoC, demonstrating widespread alterations of brain parenchyma morphology that matched to MRI findings and were associated with the degree of consciousness disorders. Thus, TCS might represent a valuable tool for routine assessment and follow-up of brain structures functioning of patients with DoC, potentially helping in differential diagnosis and prognosis.     

Exploring inhibitory deficits in female premutation carriers of fragile X syndrome: Through eye movements

There is evidence which demonstrates that a subset of males with a premutation CGG repeat expansion (between 55 and 200 repeats) of the fragile X mental retardation 1 gene exhibit subtle deficits of executive function that progressively deteriorate with increasing age and CGG repeat length. However, it remains unclear whether similar deficits, which may indicate the onset of more severe degeneration, are evident in female PM-carriers. In the present study we explore whether female PM-carriers exhibit deficits of executive function which parallel those of male PM-carriers. Fourteen female fragile X premutation carriers without fragile X-associated tremor/ataxia syndrome and fourteen age, sex, and IQ matched controls underwent ocular motor and neuropsychological tests of select executive processes, specifically of response inhibition and working memory. Group comparisons revealed poorer inhibitory control for female premutation carriers on ocular motor tasks, in addition to demonstrating some difficulties in behaviour self-regulation, when compared to controls. A negative correlation between CGG repeat length and antisaccade error rates for premutation carriers was also found. Our preliminary findings indicate that impaired inhibitory control may represent a phenotype characteristic which may be a sensitive risk biomarker within this female fragile X premutation population.