Correlation between autistic traits and brain functional connectivity in preschoolers with autism spectrum disorder: a resting state MEG study.

BACKGROUND: Neurophysiological studies recognized that Autism Spectrum Disorder (ASD) is associated with altered patterns of over- and under-connectivity. However, little is known about network organization in children with ASD in the early phases of development and its correlation with the severity of core autistic features. METHODS: The present study aimed at investigating the association between brain connectivity derived from MEG signals and severity of ASD traits measured with different diagnostic clinical scales, in a sample of 16 children with ASD aged 2 to 6 years. RESULTS: A significant correlation emerged between connectivity strength in cortical brain areas implicated in several resting state networks (Default mode, Central executive, Salience, Visual and Sensorimotor) and the severity of communication anomalies, social interaction problems, social affect problems, and repetitive behaviors. Seed analysis revealed that this pattern of correlation was mainly caused by global rather than local effects. CONCLUSIONS: The present evidence suggests that altered connectivity strength in several resting state networks is related to clinical features and may contribute to neurofunctional correlates of ASD. Future studies implementing the same method on a wider and stratified sample may further support functional connectivity as a possible biomarker of the condition.

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome.

Moyamoya angiopathy (MA) is a cerebrovascular disease determining a progressive stenosis of the terminal part of the internal carotid arteries (ICAs) and their proximal branches and the compensatory development of abnormal "moyamoya" vessels. MA occurs as an isolated cerebral angiopathy (so-called moyamoya disease) or in association with various conditions (moyamoya syndromes) including several heritable conditions such as Down syndrome, neurofibromatosis type 1 and other genomic defects. Although the mechanism that links MA to these genetic syndromes is still unclear, it is believed that the involved genes may contribute to the disease susceptibility. Herein, we describe the case of a 43 years old woman with bilateral MA and peculiar facial characteristics, having a 484-kb microduplication of the chromosomal region 15q13.3 and a previously unreported 786 kb microdeletion in 18q21.32. This patient may have a newly-recognized genetic syndrome associated with MA. Although the relationship between these genetic variants and MA is unclear, our report would contribute to widening the genetic scenario of MA, in which not only genic mutation, but also genome unbalances are possible candidate susceptibility factors.

SARS-COV-2 comorbidity network and outcome in hospitalized patients in Crema, Italy.

We report onset, course, correlations with comorbidities, and diagnostic accuracy of nasopharyngeal swab in 539 individuals suspected to carry SARS-COV-2 admitted to the hospital of Crema, Italy. All individuals underwent clinical and laboratory exams, SARS-COV-2 reverse transcriptase-polymerase chain reaction on nasopharyngeal swab, and chest X-ray and/or computed tomography (CT). Data on onset, course, comorbidities, number of drugs including angiotensin converting enzyme (ACE) inhibitors and angiotensin-II-receptor antagonists (sartans), follow-up swab, pharmacological treatments, non-invasive respiratory support, ICU admission, and deaths were recorded. Among 411 SARS-COV-2 patients (67.7% males) median age was 70.8 years (range 5-99). Chest CT was performed in 317 (77.2%) and showed interstitial pneumonia in 304 (96%). Fatality rate was 17.5% (74% males), with 6.6% in 60-69 years old, 21.1% in 70-79 years old, 38.8% in 80-89 years old, and 83.3% above 90 years. No death occurred below 60 years. Non-invasive respiratory support rate was 27.2% and ICU admission 6.8%. Charlson comorbidity index and high C-reactive protein at admission were significantly associated with death. Use of ACE inhibitors or sartans was not associated with outcomes. Among 128 swab negative patients at admission (63.3% males) median age was 67.7 years (range 1-98). Chest CT was performed in 87 (68%) and showed interstitial pneumonia in 76 (87.3%). Follow-up swab turned positive in 13 of 32 patients. Using chest CT at admission as gold standard on the entire study population of 539 patients, nasopharyngeal swab had 80% accuracy. Comorbidity network analysis revealed a more homogenous distribution 60-40 aged SARS-COV-2 patients across diseases and a crucial different interplay of diseases in the networks of deceased and survived patients. SARS-CoV-2 caused high mortality among patients older than 60 years and correlated with pre-existing multiorgan impairment.

Syncope at SARS-CoV-2 onset.

We describe clinical and laboratory findings in 35 patients tested positive for SARS-CoV-2 by reverse transcriptase-polymerase chain reaction on nasopharyngeal swab experiencing one or multiple syncope at disease onset. Clinical neurologic and cardiologic examination, and electrocardiographic findings were normal. Chest computed tomography showed findings consistent with interstitial pneumonia. Arterial blood gas analysis showed low pO2, pCO2, and ratio of arterial oxygen partial pressure to fractional inspired oxygen (PaO2/FiO2) indicating hypocapnic hypoxemia. Patients who presented with syncope showed significantly lower heart rate as compared to 68 SARS-CoV-2 positive that did not. Such poorer than expected compensatory heart rate increase may have led to syncope based on individual susceptibility. We speculate that SARS-CoV-2 could have caused angiotensin-converting enzyme-2 (ACE2) receptor internalization in the nucleus of the solitary tract and other midbrain nuclei, impairing baroreflex and chemoreceptor response, and inhibiting the compensatory tachycardia during acute hypocapnic hypoxemia.

Cortical sources of awake scalp EEG in eating disorders.

OBJECTIVE: To investigate quantitative EEG (qEEG) in anorexia nervosa (AN) and bulimia nervosa (BN) in comparison with healthy controls. METHODS: Resting EEG was recorded in 30 healthy females (age: 27.1+/-5.5), 16-AN females (age: 26.4+/-9.5) and 12-BN females (age: 27.0+/-6.3). Cortical EEG sources (delta, theta, alpha 1, alpha 2, beta 1, beta 2) were modeled by LORETA solutions. The statistical analysis was performed considering the factors Group, power Band, and region of interest (central, frontal, parietal, occipital, temporal, limbic). RESULTS: Alpha 1 sources in central, parietal, occipital and limbic areas showed a greater amplitude in Controls versus AN and BN groups. Alpha 2 sources in parietal, occipital and limbic areas showed a greater amplitude in Controls than in both AN and BN groups. Alpha 1 sources in temporal area showed a greater amplitude in Controls compared to both the BN and AN groups as well as in the BN group compared to AN group. Central alpha 1 source correlated significantly with BMI in patients. CONCLUSIONS: These results support the hypothesis that eating disorders are related to altered mechanisms of cortical neural synchronization, especially in rolandic alpha rhythms. SIGNIFICANCE: To our knowledge this is the first study by LORETA able to detect modifications of cortical EEG activity in eating disorders.

Stroop interference task and single-photon emission tomography in anorexia: a preliminary report.

OBJECTIVE: The aim of this preliminary study was to investigate the physiologic substrate of executive function in anorexia nervosa (AN) by assessing the relation between brain perfusion and Stroop interference task (SIT). METHOD: The classical SIT test and brain single-photon emission tomography (SPET) were evaluated in 16 AN females (mean age = 23.69 +/- 8.68 years; mean body mass index [BMI] = 16.19 +/- 1.53 kg/m2). The relation between the two examinations was searched by statistical parametric mapping (SPM 99) with a height threshold of p = .001. RESULTS: An abnormally low or a borderline SIT value was found in 25% of patients. A significant correlation between the SIT score and brain perfusion was found in the superior frontal gyrus of both hemispheres (Brodmann's area [BA] 6 in both hemispheres and BA 8 in the right hemisphere). No correlation was found in the anterior cingulate gyrus. CONCLUSION: BA 6 and BA 8 and the anterior cingulate are believed to be the basis of both error detection and immediate correction. Activity of BA 6 and BA 8 reflects this executive task in AN patients as well, whereas the lack of correlation in the anterior cingulate may suggest its blunted activity in AN patients, similarly to what is shown in other conditions characterized by impaired executive function, such as patients with depression, patients with schizophrenia, and abstinent drug abusers. However, these findings should still be quoted as preliminary, given some limitations of the study design, such as the lack of a control group, and the unfeasibility of controlling some relevant confounding variables, such as psychiatric comorbidity, medication, and the time interval between examinations, mainly deriving from the relatively few patients studied.