EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome.

OBJECTIVE: Descriptions of electroencephalographic (EEG) patterns in Aicardi syndrome (AIC) have to date referred to small cohorts of up to six cases and indicated severe derangement of electrical activity in all cases. The present study was conducted to describe the long-term EEG evolution in a larger AIC cohort, followed for up to 23 years, and identify possible early predictors of the clinical and EEG outcomes. METHODS: In a retrospective study, two experienced clinical neurophysiologists systematically reviewed all EEG traces recorded in 12 AIC cases throughout their follow-up, from epilepsy onset to the present. Clinical outcome was assessed with standardized clinical outcome scales. RESULTS: Analysis of the data revealed two distinct AIC phenotypes. In addition to the "classical severe phenotype" already described in the literature, we identified a new "mild phenotype". The two phenotypes show completely different EEG features at onset of epilepsy and during its evolution, which correspond to different clinical outcomes. CONCLUSIONS: Data from our long-term EEG and clinical-neuroradiological study allowed us to describe two different phenotypes of AIC, with different imaging severity and, in particular, different EEG at onset, which tend to remain constant over time. SIGNIFICANCE: Together, these findings might help to predict long-term clinical outcomes.

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.

OBJECTIVE: Aiming to detect associations between neuroradiologic and EEG evaluations and long-term clinical outcome in order to detect possible prognostic factors, a detailed clinical and neuroimaging characterization of 67 cases of Aicardi syndrome (AIC), collected through a multicenter collaboration, was performed. METHODS: Only patients who satisfied Sutton diagnostic criteria were included. Clinical outcome was assessed using gross motor function, manual ability, and eating and drinking ability classification systems. Brain imaging studies and statistical analysis were reviewed. RESULTS: Patients presented early-onset epilepsy, which evolved into drug-resistant seizures. AIC has a variable clinical course, leading to permanent disability in most cases; nevertheless, some cases presented residual motor abilities. Chorioretinal lacunae were present in 86.56% of our patients. Statistical analysis revealed correlations between MRI, EEG at onset, and clinical outcome. On brain imaging, 100% of the patients displayed corpus callosum malformations, 98% cortical dysplasia and nodular heterotopias, and 96.36% intracranial cysts (with similar rates of 2b and 2d). As well as demonstrating that posterior fossa abnormalities (found in 63.63% of cases) should also be considered a common feature in AIC, our study highlighted the presence (in 76.36%) of basal ganglia dysmorphisms (never previously reported). CONCLUSION: The AIC neuroradiologic phenotype consists of a complex brain malformation whose presence should be considered central to the diagnosis. Basal ganglia dysmorphisms are frequently associated. Our work underlines the importance of MRI and EEG, both for correct diagnosis and as a factor for predicting long-term outcome. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that for patients with AIC, specific MRI abnormalities and EEG at onset are associated with clinical outcomes.

Acromioclavicular osteoarthritis and shoulder pain: a review of the role of ultrasonography.

Acromioclavicular joint osteoarthritis is often a cause of shoulder pain. On the other hand, imaging frequently leads to such a diagnosis, especially in elderly patients, and some authors believe it to have a poor correlation with the clinical picture. It is, however, widely accepted that such a condition can be the cause of rotator cuff impingement. In the case of shoulder pain, it is important to distinguish between symptomatic acromioclavicular osteoarthritis and other causes, especially rotator cuff pathology, which is more common. Sometimes, the clinical picture does not allow for differential diagnosis; in these cases, the injection of a local anesthetic into the acromioclavicular joint or into the subacromial bursa can be of great help. Ultrasonography can easily detect acromioclavicular osteoarthritis and rotator cuff pathology, and it is highly effective in guiding the articular or bursal injection of a local anesthetic to assess the origin of the pain. In addition, in conservative therapy, ultrasonography can guide the articular or bursal injection of corticosteroids and hyaluronic acid.

Psychological correlates of decision-making during prenatal diagnosis: a prospective study.

OBJECTIVE: Decision-making during prenatal diagnosis has not been extensively studied. We aimed to determine psychological correlates and level of decisional conflict following prenatal diagnosis. METHOD: A total of 159 pregnant women were consecutively enrolled. All participants completed three questionnaires (the Hospital Anxiety and Depression scale, the Berlin Social Support scales and the Decisional Conflict scale) at three time points (T1 - waiting period between prenatal testing and disclosure of the results; T2 - decision phase within 3 days from test result disclosure; T3 - digestion period within 3 weeks from disclosure). RESULTS: Women with fetal anomaly who terminate pregnancy were significantly more anxious and depressed than controls at each time point. Additionally, women with a normal fetus who terminate pregnancy presented higher level of anxiety and depression compared with controls at T2. Women who terminated pregnancy showed increased uncertainty scores at T2 and T3. Anxious and depressed individuals at T2 (decision period) were more uncertain about their choice at T3 compared to women with normal levels of anxiety and depression. CONCLUSION: The decision to terminate pregnancy, irrespective of test results, may determine emotional distress and psychiatric morbidity. Women who were anxious and depressed at decision appeared to be more uncertain about their choices as time passed by. A careful assessment of women during prenatal diagnosis should be useful to identify women who may benefit from psychological support.