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1. Family study of epilepsy in first degree relatives: data from the Italian Episcreen Study

Author

Bianchi, A., Viaggi, S., Chiossi, E., Giallonardo, Anna Teresa, Montagnini, A., Berloffa, S., Cogo, S., Vignoli, A., Saltarelli, A., Zambreli, E., Cusani Visconti, E., Beffa Negrini, P., Cardinale, F., Viri, M., Croce, C., Fittipaldi, F., Di Bonaventura, C., Muzzi, F., Izzi, F., Pachatz, C., Cilio, R., Del Priore, D., Piacenti, A., Pulitano, P., Sartori, I., Politini, L., Zanotta, N., Tripodi, M., Gattuso, C., Riguzzi, P., Cerullo, A., Bisulli, F., Meo, R., Caravaglios, G., Buzzi, G., Magnani, F., Panozzo, M. T., Garofalo, P., Mastrangelo, M., Pastorino, G., Zucca, C., Radice, L., Spreafico, G., Laneve, A., Mazzeo, M. R., Specchio, L. M., Vetro, A., Amodeo, G., Calzolari, S., De Marco, P., Piccinelli, P., Balottin, U., Romano, V., Paciello, M., Girelli, L., Germano, M., Jussi, M. I., Lazzaro, A. T., Bellini, A., Moretti, P., Minicucci, F., Comi, G., Cavaliere, B., Scarpa, P., Gessaroli, M., Rasi, F., Tripaldelli, B., Gigante, N., Interno, S., Cocuzza, D., Pavone, L., Vanadia, F., Consolo, F., D'Agostino, V., Rasmini, P., Besana, D., Paci, C., Buongarzone, M. P., Onofri, M., De Maria, G., Parola, S., Antonini, L., Vecchi, M., Boniver, C., Pezzella, F., Colicchio, G., Vaccario, M. L., Mazza, S., Brinciotti, Mario, Benedetti, P., Acquafondata, C., Battaglia, D., Guzzetta, F., Panzetta, A., and Bacchi, O.

Subjects
Adult, Male, Proband, Pediatrics, medicine.medical_specialty, Adolescent, Offspring, Clinical Neurology, Epilepsy, medicine, Humans, epilepsy, family history, standardised morbidity ratio, Family, First-degree relatives, Family history, Child, Aged, business.industry, Infant, Newborn, Infant, General Medicine, Middle Aged, medicine.disease, Italy, Neurology, Child, Preschool, Etiology, Lower prevalence, Female, Observational study, Neurology (clinical), business
Abstract

Objective: To evaluate the family history of epilepsy in first degree relatives of probands with epilepsy. Methods: A sample of 10787 patients with epilepsy with complete information about first degree relatives (parents, siblings and offspring) was selected from the database of the Episcreen Project, the largest Italian observational study on epilepsy. Family history was assessed by: (1) prevalence estimates of epilepsy among proband's relatives, (2) modified cumulative risks (MCR), adjusted using proband's age as censoring time in life tables, (3) standardised morbidity ratios (SMR), using a sub-group of symptomatic epilepsies as control group. Results: Patients (9.1%) had a family history of epilepsy. The overall prevalence of epilepsy among first degree relatives was 2.6%. Idiopathic generalised epilepsies had the highest prevalence (5.3%). Cryptogenetic epilepsies had a lower prevalence (2.1%) than idiopathic epilepsies, but higher then symptomatic epilepsies (1.5%), both in generalised and focal forms (3.8% vs. 2.0% and 1.8% vs. 1.3%). A similar tendency was detected using MCR and SMR, with the higher values of risks/ratios for idiopathic and generalised epilepsies. Probands with idiopathic generalised epilepsies were highly concordant with respect to their relatives' type of epilepsy. Considering other strata factors, risks were higher in proband's epilepsies with an onset less then 14 years of age, while sex played no definite role in differentiating the family history. Conclusions: The Episcreen model permits a variety of stratification factors to measure family risk, including age at onset, epilepsy localisation and aetiology with a large sample of more than 10000 probands and 1065/40544 relatives affected and classified.

Published
2003
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2. Italian version of the Epworth sleepiness scale: External validity

Author

Vignatelli, L. A., Plazzi, G. A., Barbato, A. S., Ferini, Strambi, Bi, L., Manni, R. S., Pompei, F. S., D'Alessandro, R. A., Brancasi, B. C., Misceo, S. C., Puca, F. C., Savarese, M. C., Servalli, C. D., Ubiali, E. D., Viscardi, M. D., Vetrugno, R. A., Buzzi, G. E., Cirignotta, F. E., Mostacci, B. E., Sancisi, E. E., Fassari, V. F., Scrofani, A. F., Beelke, M. G., Ferrillo, F. G., Nobili, L. G., Costa, C. H., Di Perri, R. H., Raffaele, M. H., Landi, C. I., Rossi, M. J., Spaggiari, C. J., Terzano, M. G. J., Manni, R. K., Sartori, I. K., Zanotta, N. K., Bonnani, E. L., Indice, A. L., Murri, L. L., Guazzelli, M. M., Palagini, L. M., Panicucci, P. M., Antonini, Giovanni, Bruni, O. N., Ceschini, V. N., Gragnani, F. N., Miano, S. N., Della Marca, G. O., Farina, B. O., Mennuni, G. F. O., Cosentino, F. P., Ferri, R. P., Bergonzi, P. Q., Marinig, R. Q., Pauletto, G. Q., Dolso, P. L. R., Gigli, Servalli, G. L., Ubiali, C. D., Viscardi, E. D., Vetrugno, M. D., Buzzi, R. A., Cirignotta, G. E., Mostacci, F. E., Sancisi, B. E., Fassari, E. E., Scrofani, V. F., Beelke, A. F., Ferrillo, M. G., Nobili, F. G., Costa, L. G., Di Perri, C. H., Raffaele, R. H., Landi, M. H., Rossi, C. I., Spaggiari, M. J., Terzano, C. J., Manni, M. G. J., Sartori, R. K., Zanotta, I. K., Bonnani, N. K., Indice, E. L., Murri, A. L., Guazzelli, L. L., Palagini, M. M., Panicucci, L. M., Antonini, G., and Gigli, G. L.

Subjects
Multiple Sleep Latency Test, Adult, Male, medicine.medical_specialty, Adolescent, Polysomnography, Excessive daytime sleepiness, specificity, Context (language use), Dermatology, Disorders of Excessive Somnolence, External validity, Surveys and Questionnaires, medicine, Humans, Epworth sleepiness scale, Multiple sleep latency test, Questionnaires validation, ROC curve, Sensitivity, Specificity, Aged, Female, Italy, Middle Aged, ROC Curve, Sleep, Wakefulness, 2708, Neurology (clinical), Psychiatry and Mental Health, epworth sleepiness scale, medicine.diagnostic_test, Epworth Sleepiness Scale, excessive daytime sleepiness, multiple sleep latency test, questionnaires validation, roc curve, sensitivity, General Medicine, medicine.disease, Obstructive sleep apnea, Psychiatry and Mental health, Physical therapy, medicine.symptom, Psychology, Narcolepsy
Abstract

We assessed the validity of an Italian language version of the Epworth sleepiness scale (ESS). The translated ESS was compared to the multiple sleep latency test (MSLT), considered the gold standard for the diagnosis of excessive daytime sleepiness (EDS). Within the context of a multicentric national study on narcolepsy (Gruppo Italiano Narcolessia Studio Epidemiologico Nazionale, GINSEN) involving 17 Italian sleep centres, we compared the two diagnostic tests on 91 prospectively recruited subjects with suspected EDS (34 with narcolepsy, 16 with obstructive sleep apnea syndrome, 19 with idiopathic hypersomnia, and 22 with other sleep, neurologic or psychiatric disorders). ESS scores were inversely correlated with mean sleep latency values, as measured with MSLT (rho = −0.31, p

Published
2003

3. Disorders of arousal in 4 older men: evidence from clinical practice

Author

Giorgio Buzzi, Greta Mainieri, Giovanna Calandra-Buonaura, Federica Fragiacomo, Susanna Mondini, Federica Provini, Giuseppe Loddo, Loddo G., Fragiacomo F., Mainieri G., Mondini S., Buzzi G., Calandra Buonaura G., and Provini F.

Subjects
Adult, Male, Pulmonary and Respiratory Medicine, sleepwalking, Polysomnography, Somnambulism, REM sleep behavior disorder, Night Terrors, Nocturnal, confusional arousal, Confusional arousal, Arousal, sleep terror, disorders of arousal, medicine, Humans, Aged, business.industry, parasomnia, Sleep terror, medicine.disease, Scientific Investigations, Clinical Practice, Neurology, Sleepwalking, Sleep Arousal Disorders, Neurology (clinical), business, Clinical psychology
Abstract

STUDY OBJECTIVES: To describe clinical and video-polysomnographic features of disorders of arousal (DoA) in older adults. METHODS: Four consecutive male patients with nocturnal motor behaviors underwent a clinical interview, neurologic examination, laboratory tests, brain magnetic resonance imaging, and nocturnal in-laboratory or 24- to 48-hour home video polysomnography. The patients repeated an evaluation after 6 months of follow-up, including a 48-hour home video polysomnography in 2 patients. RESULTS: The patients were aged 65-72 years, and 1 patient has Parkinson disease. Sleep-related behavioral episodes had begun from 12-55 years before our observation. Three patients presented with a positive family history for DoA. Sleep motor episodes were described as suddenly raising the head or trunk, sitting in bed, screaming, speaking, gesturing, and sleepwalking (in 1 patient). When questioned, all patients seemed confused, rarely reporting any dream-like content. We recorded 25 DoA episodes of different intensity and complexity arising from nonrapid eye movement sleep. The semiology of the episodes was similar to that described in younger patients, consisting of sleep terrors and confusional arousals. All patients presented with physiological rapid eye movement sleep muscle atonia. Medication therapy reduced the frequency of the episodes in 2/4 patients. CONCLUSIONS: DoA may begin in adulthood and persist or arise in older adults, sometimes causing sleep-related injuries. Motor patterns of DoA in older adults are similar to those of younger patients. A combined clinical examination and video polysomnography recording are crucial in establishing a definitive diagnosis of nocturnal motor behavior in all older adults and especially in those affected by neurodegenerative diseases. CITATION: Loddo G, Fragiacomo F, Mainieri G, etal. Disorders of arousal in 4 older men: evidence from clinical practice. J Clin Sleep Med. 2022;18(1):129-136.

Published
2022

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