The structured diagnostic interview for sleep patterns and disorders: rationale and initial evaluation.

OBJECTIVES: We aimed to describe and report the initial validity of a newly developed structured interview for sleep disorders (Diagnostic Interview for Sleep Patterns and Disorders [DISP]) administered by trained lay interviewers. METHODS: A total of 225 patients with various sleep disorders were recruited from two nationally recognized sleep centers in the United States. The International Classification of Sleep Disorders, second edition (ICSD-2) criteria, were used to classify sleep disorders (e.g., delayed sleep phase disorder, hypersomnia, narcolepsy with cataplexy [NC], restless legs syndrome [RLS], periodic limb movement disorder [PLMD], insomnia, rapid eye movement sleep behavior disorder [RBD], and obstructive sleep apnea [OSA]). Interview diagnoses were compared with final diagnoses by sleep specialists (reference diagnosis based on clinical history, examination, and polysomnography [PSG] when indicated). RESULTS: DISP diagnoses had fair to substantial concordance with clinician diagnoses for various sleep disorders, with area under the receiver operator characteristic curves (AUC) ranging from 0.65 to 0.84. Participants classified by the clinician as having a sleep disorder were moderately well-detected (sensitivity ranging from 0.50 for RBD disorder to 0.87 for insomnia). Substantial specificity (>0.8) also was seen for five of the eight sleep disorders (i.e., delayed sleep phase, hypersomnia, NC, PLMD, and RBD). Interviews were more likely than clinicians to detect disorders secondary to the primary sleep problem. CONCLUSIONS: The DISP provides an important tool for the detection of a wide range of sleep disorders in clinical settings and is particularly valuable in the detection of secondary disorders that were not the primary referral diagnosis.

Health-related quality of life effects of modafinil for treatment of narcolepsy.

OBJECTIVE: To evaluate the burden of illness of narcolepsy and assess the health-related quality-of-life (HQL) effects of oral modafinil, a wake-promoting therapy for excessive daytime sleepiness associated with narcolepsy. METHODS: Subjects with narcolepsy enrolled in a nine-week, placebo-controlled, double-blind study and were randomized to placebo, modafinil 200 mg, or modafinil 400 mg. After the study, consenting subjects received modafinil in a 40-week open-label extension. A self-administered HQL questionnaire consisting of the 36-Item Short Form Health Survey (SF-36) and supplemental narcolepsy-specific scales was given to subjects at baseline, study endpoint, and several open-label timepoints. RESULTS: 481 subjects completed a baseline and double-blind endpoint HQL assessment. Compared to population norms, baseline HQL scores reflected substantial burden in vitality, social functioning, and performing usual activities. At study endpoint, subjects in the 400 mg modafinil group had significantly higher scores than placebo for 10 of the 17 HQL scales. The 400 mg modafinil group had more energy, fewer difficulties performing usual activities, fewer interferences with social activities, improved psychological well-being and higher productivity, attention and self-esteem compared to placebo subjects (p<.05). The positive treatment effects were sustained over the open-label extension. CONCLUSION: Modafinil significantly improves health-related quality of life in narcolepsy.

Electroencephalographic abnormalities in monozygotic twins with Tourette's syndrome.

The association of attentional, neuropsychological, and behavioural abnormalities with Tourette's syndrome (TS) suggests that the abnormal function of the disorder extends beyond the motor circuits of the basal ganglia. To explore this possibility we studied, with conventional 18-channel electroencephalography, monozygotic twins ranging from 8 to 26 years of age, where at least one member of the twin pair suffered from TS. In nine out of the 11 twin pairs that differed in clinical severity of the tic disorder, the twin with the more severe course of illness had a significantly more abnormal electroencephalogram (EEG) by qualitative visual analysis. Most of the differences were due to excessive frontocentral theta activity, suggesting dysfunction outside the basal ganglia. There was also a significant relationship between a lower global neuropsychological testing score and a worse overall EEG. In eight of nine twin sets with different global neuropsychological testing scores, the twin with the lower score had a worse EEG. A similar relationship was found between birth weight and overall EEG quality. In the nine sets that differed in birth weight, the twin with a lower birth weight had a worse EEG in seven of the sets. The EEG findings are unlikely to be unlikely to be a medication effect because the same result was seen in the six twin pairs who had been medication-free for at least six months before entry into the study. The origin of this slowing may relate to the interaction between environmental insults to the central nervous system and the genetic component of TS, an interaction producing damage to the cortex, thalamus, or both.

Verification of sleep apnea using a portable sleep apnea screening device.

Sixty-seven patients referred to a sleep laboratory with a tentative diagnosis of obstructive sleep apnea were examined with a device designed for home use as an apnea screening system. Direct comparison was made between data obtained by the portable device and by data acquired simultaneously with standard polysomnographic techniques. The portable recorder measured nasal/oral airflow, chest wall movement, cardiac rhythm, and blood oxygen saturation. There was no significant difference in the number of disordered breathing events (apneas and hypopneas) recorded by the two systems. The portable device was found to have a sensitivity of 95% and a specificity of 96%. Indications and limitations for use of the portable home apnea screening test are reviewed and guidelines for normalcy suggested.

Evaluation of cervical spine inflammatory arthritis with somatosensory evoked potentials.

Bilateral independent median nerve somatosensory evoked potentials (SEP) were obtained in 15 patients with inflammatory arthritis of the cervical spine. Limitation of neck motion, neck pain, abnormal neurologic findings, and atlantoaxial subluxation were evaluated. Ten of 15 patients had abnormal SEP associated with subluxation in 9. Neurological signs specifically localizable to the central nervous system (CNS) were present in only 2 of the 10 patients. SEP were normal in the remaining 5 patients despite the presence of nonspecific neurological signs including atrophy of the intrinsic muscles of the hands and atlantoaxial subluxation determined by radiographic evaluation in 3 of 5 patients. Our study demonstrates the value of SEP in the evaluation of CNS function when findings on examination and radiographs may not conclusively document spinal cord impairment.

An unusual case of proctalgia.

We report the case of a 21-year-old man with the sudden onset of severe proctalgia followed by headaches and fever. The patient had a lumbar puncture consistent with subarachnoid hemorrhage. After a normal four-vessel cerebral arteriogram, a myelogram and computed tomography scan of the spine were performed and revealed a mass lesion of the L1 level. Pathologic evaluation after resection of the mass resulted in a diagnosis of hemorrhage from a myxopapillary ependymoma. These relatively benign tumors of the cauda equina-filum terminale respond well to treatment. The differential diagnosis of proctalgia is reviewed, and the need for emergency physicians to consider spinal subarachnoid hemorrhage when a patient presents with the acute onset of rectal pain is emphasized.

Noninvasive assessment of impotence.

The examinations described provide quantitative data on hemodynamics of the erectile process. Comprehensive study cannot be totally noninvasive because it does require measurements of intracavernous pressure. Patients selected for invasive study should exhibit normal neurologic function. These tests generally do not display anatomy underlying the physiologic disorder, although ultrasound has great promise in this regard. Angiography is needed for rational planning of operative procedures. Angiographic examination that includes arteriography of large and small arteries and delineation of cavernosal venous drainage or cavernosography defines both the location and the nature of defects causing erectile failure. It is our belief that both noninvasive and invasive tests (physiologic measurements to assess penile blood flow and cavernosal competence and comprehensive angiography using artificial erection) must be obtained prior to operation.

Experience in diagnosis and treatment of impotence caused by cavernosal leak syndrome.

To delineate neural, arterial, and venous components contributing to impotence, we used a previously described noninvasive screening sequence combined with stimulation of artificial erection with papaverine injection, selective pudendal arteriography (SPA), and dynamic cavernosography (DC). Among 572 men with impotence, age range 17 to 78 years (average age 54.8 years), 26 men with potential cavernosal leaks in absence of other factors were identified; 16 underwent DC; among these five had normal cavernous venous drainage. Eight men with abnormal cavernosal venous drainage required cavernous infusion flow rates higher than 120 ml/min to obtain erection and higher than 40 ml/min to maintain erection. Radiographic studies showed cavernosal leakage in all eight patients. Eight men, ages 39 to 61 years, underwent surgical ablation of abnormal cavernosal venous drainage. Among these, five men have had excellent results for up to 3 years. One failure was related to unrecognized penile arterial disease later shown by SPA. In two men small doses of papaverine now induce erection. We now recommend SPA before DC to rule out an arterial abnormality. Accurate identification of factors contributing to erectile failure is critical for successful treatment; in this experience candidates for correction of cavernosal leak syndrome were uncommon.

A screening sequence for vasculogenic impotence.

Delineation of neural, arterial, and venous components contributing to penile erectile failure is critical to proper patient selection for surgical interventions, particularly for a subset of men with impotence as the sole manifestation of pelvic arterial disease. In addition to obtaining a history and physical examination specific for disordered erectile function and vascular risk factors, we developed a sequence of testing to include noninvasive estimates of penile perfusion, pulse volume recording (PVR), and penile/brachial blood pressure indices (PBPI); somatosensory evoked potentials from dorsal penile (PEP) and posterior tibial nerve stimulation (SEP) and bulbocavernosus reflex time (BCR); stimulation of artificial erection with injection of papaverine (AE); and selective hypogastric-pudendal arteriography with patients under epidural anesthesia, and corpus cavernosography with AE. Three hundred fifty-three men complaining of impotence were screened by PVR and PBPI; among these 42 impotent men and 20 additional concurrent potent control subjects had evoked potentials and BCR measurements, and 55 men received one or more AE injections. On the basis of these results, angiographic investigation was recommended. Age and risk factors were similar in the two groups. Abnormal penile blood perfusion was associated significantly only with cigarette smoking (p less than 0.0001) or overt large vessel disease. Impotent men with (138) or without perfusion abnormalities (215) averaged 54 and 56 years of age, respectively; impotent men with normal flow patterns most commonly had treated hypertension or diabetes (79 of 215 men). Covert neurologic abnormalities were detected in 28 of 42 impotent men. Abnormal penile perfusion plus failure of AE predicted isolated ischiopudendal trunk or pudendal artery disease.(ABSTRACT TRUNCATED AT 250 WORDS)

Metastatic disease of the spine: diagnosis and management.

This paper reviews the pathophysiology, clinical presentation, work-up, and management of epidural spinal cord compression by metastatic tumor. Included are descriptions detailing clinical syndromes of cervical, thoracic, cauda equina, and conus medullaris compressions. Indications for plain x-ray films, myelography, and CT scanning as well as a discussion of radiation, steroid, and surgical therapy are presented.

Truncal seizures: an unusual presentation of cerebral cysticercosis.

We present the case of a 24-year-old woman who developed repetitive partial simple seizures confined to her right rib cage. Computed tomography scan of the head was consistent with the diagnosis of cerebral cysticercosis. The patient was started on a regimen of anticonvulsants, steroids, and praziquantel with full resolution of symptoms.

Absence of the septum pellucidum. Overlapping clinical syndromes.

A patient with absence of the septum pellucidum, optic hypoplasia, congenital nystagmus, hemiatrophy, and seizures fulfilled clinical and radiological criteria for diagnosis of both septo-optic dysplasia and the syndrome of absent septum pellucidum with porencephalies. The anatomical and clinical similarities between these two syndromes suggest a common embryological basis. Their simultaneous presence in this case further supports this explanation. Clinically mild forms of both septo-optic dysplasia and the syndrome of absent septum pellucidum with porencephalies are now detected with the aid of computed tomographic scanning in patients with unexplained hemiatrophy, congenital nystagmus, seizures, and short stature.

Candida albicans meningitis in a parenteral drug abuser.

We have described a patient with meningitis due to Candida albicans, in whom the only identifiable risk factor was a history of intravenous amphetamine abuse. Despite intravenous therapy with 2 gm of amphotericin B and concurrent 5-fluorocytosine, symptoms, CSF pleocytosis, and hypoglycorrhachia persisted. After a brief course of intrathecal amphotericin B therapy, the patient improved clinically and the CSF returned to normal.