Intracranial arteries in individuals with the elastin gene hemideletion of Williams syndrome.

BACKGROUND AND PURPOSE: Williams syndrome, a rare genetic disorder with a striking neurobehavioral profile characterized by extreme sociability and impaired visuospatial construction abilities, is caused by a hemideletion that includes the elastin gene, resulting in frequent supravavular aortic stenosis and other stenotic arterial lesions. Strokes have been reported in Williams syndrome. Although the extracranial carotid artery has been studied in a sample of patients with Williams syndrome, proximal intracranial arteries have not. MATERIALS AND METHODS: Using MRA, we studied the intracranial vessels in 27 participants: 14 patients with Williams syndrome (age range, 18-44 years; mean age, 27.3 ± 9.1; 43% women) and 13 healthy control participants with similar age and sex distribution (age range, 22-52 years; mean age, 33.4 ± 7.6; 46% women). All participants with Williams syndrome had hemideletions of the elastin gene. Blinded to group allocation or to any other clinical data, a neuroradiologist determined the presence of intracranial vascular changes in the 2 groups. RESULTS: The Williams syndrome group and the healthy control group had similar patency of the proximal intracranial arteries, including the internal carotid and vertebral arteries; basilar artery; and stem and proximal branches of the anterior cerebral artery, MCA, and posterior cerebral arteries. The postcommunicating segment of the anterior cerebral artery was longer in the Williams syndrome group. CONCLUSIONS: Despite the elastin haploinsufficiency, the proximal intracranial arteries in Williams syndrome preserve normal patency.

Panic and fear induced by deep brain stimulation.

BACKGROUND: Mood, cognitive, and behavioural changes have been reported with deep brain stimulation (DBS) in the thalamus, globus pallidus interna, and anterior limb of the internal capsule/nucleus accumbens region. OBJECTIVE: To investigate panic and fear resulting from DBS. METHODS: Intraoperative DBS in the region of the right and then left anterior limb of the internal capsule and nucleus accumbens region was undertaken to treat a 52 year old man with treatment refractory obsessive-compulsive disorder (OCD). Mood, anxiety, OCD, alertness, heart rate, and subjective feelings were recorded during intraoperative test stimulation and at follow up programming sessions. RESULTS: DBS at the distal (0) contact (cathode 0-, anode 2+, pulse width 210 ms, rate 135 Hz, at 6 volts) elicited a panic attack (only seen at the (0) contact). The patient felt flushed, hot, fearful, and described himself as having a "panic attack." His heart rate increased from 53 to 111. The effect (present with either device) was witnessed immediately after turning the device on, and abruptly ceased in the off condition CONCLUSIONS: DBS of the anterior limb of the internal capsule and nucleus accumbens region caused severe "panic." This response may result from activation of limbic and autonomic networks.

Mood and cognitive changes with deep brain stimulation. What we know and where we should go.

AIM: The aim of this study was to completely review the literature on cognitive and mood changes resulting from deep brain stimulation (DBS), and to examine the factors that might lead to these changes. DBS has been shown to improve motor symptoms in many movement disorders. Despite the widespread use of this technique, there are relatively few well controlled studies describing the potential cognitive, mood and behavioral consequences that may result from DBS. Additionally, the factors that may influence these changes have not been carefully studied. METHODS: A complete survey of the articles exploring the effects of DBS on mood and cognition was performed. Each study identified was examined and categories of factors that may have influenced mood and cognition were noted. These factors included surgical target, number of patients studied, whether procedures were unilateral or bilateral, average age of patients, diagnosis, condition of the DBS during the study (on or off), pre-operative screening tests (e.g., dementia rating scale, mini mental state exam), and changes on mood and cognitive tests (categorized as no change, improved, or worsened). Studies were divided into evidence-based categories. RESULTS: There are many mood and cognitive changes that may result from DBS. Due to methodological limitations of existing studies there are important unanswered questions about cognitive and mood changes resulting from this type of surgery. The predominant amount of data regarding changes in mood and cognition with DBS is level 3 or case based evidence. CONCLUSIONS: There exists a paucity of well-controlled studies addressing the mood and cognitive changes that result from DBS. Carefully performed prospective studies may help us to understand the effects of DBS on mood and cognition.

Stab wounds to the back and flank in the hemodynamically stable patient: a decision algorithm based on contrast-enhanced computed tomography with colonic opacification.

PURPOSE: The authors wanted to determine whether contrast-enhanced computed tomography (CE-CT) with colonic opacification is an accurate tool to triage hemodynamically stable victims of stab wounds to the flank and back. PATIENTS AND METHODS: One hundred forty-five consecutive patients were categorized as low-risk ( penetration superficial to the deep fascia) or high-risk (penetration beyond the deep fascia) based on CE-CT findings. RESULTS: There were no significant differences in admission vital signs, Glasgow Coma Scale, or complete blood counts between low- and high-risk groups. None of the 92 low-risk patients required surgery or had sequelae. Six of the 53 high-risk patients underwent surgery, 2 based on initial CE-CT, 4 due to evolving clinical signs. The CE-CT correctly predicted surgical findings in all cases. CONCLUSIONS: Hemodynamically stable patients with stab wounds to the back and/or flank can be successfully triaged based on CE-CT findings. Low-risk patients may be discharged immediately. High-risk patients may have a discharge decision implemented at 24 hours.

The social effects of stereotyped behaviour.

A survey of the attitudes of adolescents towards stereotyped behaviour was carried out. Two hundred and five students attending two secondary schools in a rural market town were randomly divided into four groups. Each group was shown a videotaped recording of an actress engaging in routine household tasks. Two groups saw the actress displaying stereotyped behaviour. Half the sample were told the actress was a university student and half were told that she was a person with a mental handicap. Subjects then completed a questionnaire which asked about their perceptions of the person in the video. Results showed that more negative responses were given to a person displaying stereotyped behaviour irrespective of label. The sex of the respondent and prior contact with mental handicap were significant variables. It is suggested that the public's perception of stereotypy should be a relevant factor in the decision to reduce the behaviour.