Sleep-wake disorders persist 18 months after traumatic brain injury but remain underrecognized

OBJECTIVE This study is a prospective, controlled clinical and electrophysiologic trial examining the chronic course of posttraumatic sleep-wake disturbances (SWD). METHODS We screened 140 patients with acute, first-ever traumatic brain injury of any severity and included 60 patients for prospective follow-up examinations. Patients with prior brain trauma, other neurologic or systemic disease, drug abuse, or psychiatric comorbidities were excluded. Eighteen months after trauma, we performed detailed sleep assessment in 31 participants. As a control group, we enrolled healthy individuals without prior brain trauma matched for age, sex, and sleep satiation. RESULTS In the chronic state after traumatic brain injury, sleep need per 24 hours was persistently increased in trauma patients (8.1 ± 0.5 hours) as compared to healthy controls (7.1 ± 0.7 hours). The prevalence of chronic objective excessive daytime sleepiness was 67% in patients with brain trauma compared to 19% in controls. Patients significantly underestimated excessive daytime sleepiness and sleep need, emphasizing the unreliability of self-assessments on SWD in trauma patients. CONCLUSIONS This study provides prospective, controlled, and objective evidence for chronic persistence of posttraumatic SWD, which remain underestimated by patients. These results have clinical and medicolegal implications given that SWD can exacerbate other outcomes of traumatic brain injury, impair quality of life, and are associated with public safety hazards.

The roles of depression and anxiety in the understanding and treatment of Obstructive Sleep Apnea Syndrome

Obstructive Sleep Apnea Syndrome (OSAS) is a debilitating condition stemming from disruption to the respiratory system during sleep. At present, the nature of the relationship between OSAS and mood, specifically depression and anxiety, is still unclear. The purpose of this paper is to shed some light on this relationship. PsycINFO was used to locate relevant papers on this topic. This literature search formed the basis of our investigation. Results showed that the anxiety and depression methodology is weak. It is now clear that there is an urgent need to better understand the roles of anxiety and depression in OSAS. For example, the research literature suggests that depression and anxiety covary with OSAS. However, because of methodological issues, such as difficulties involved in diagnosis and the use of inappropriate instruments, this conclusion remains tenuous. Future directions are discussed. (C) 2004 Elsevier Ltd. All rights reserved.

Influência do horário de trabalho, do gênero e de um programa de educação sobre o sono no ciclo sono/vigília de professores do ensino fundamental e médio

The teaching profession is often associated with extensive workload inside and outside the classroom, poor teaching conditions, among other challenges that can cause sleep problems. These problems may be even greater in women, due to the professional and domestic work hours and to the major sleep necessity. Considering that sleeping problems may result from the practice of poor sleep habits, sleep education programs are conducted with the aim to reduce sleep deprivation, irregularity on sleep schedules, daytime sleepiness and improve sleep quality. In this sense, the objective of this study is to evaluate the influence of working hours, gender and a sleep education program on sleeping habits, quality of sleep, daytime sleepiness and the level of stress in teachers of elementary and secondary education. For that, teachers filled the questionnaires that assessed: 1. Sleeping habits (Sleep & Health), 2. Chronotype (Horne & Ostberg), 3. Daytime sleepiness (Epworth Sleepiness Scale), 4. Sleep Quality (Pittsburgh Sleep Quality Index), 5. Level of stress (The Inventory of Stress for Adults of Lipp) and 6. Daily pattern of sleep/wake cycle (Sleep Diary). The questionnaires 1, 4, 5 and 6 were repeated 3 weeks after the sleep education program. Teachers who begin work in the morning (7:11 ± 0:11 h) wake up earlier in the week and often have poor sleep quality compared to those who start in the afternoon (13:04 ± 00:12 h). Among those who begin work in the morning, the intermediate types and those with an evening tendency were more irregular in the wake up time than morning types and increased sleep duration on weekend. In relation to gender, women had longer sleep duration than men, although the majority presented excessive daytime sleepiness and poor sleep quality. However, when work schedule and age are similar between genders, the difference in sleep duration becomes a tendency and the difference in the percentage of excessive daytime sleepiness disappears, but the poor sleep quality persists in women. With respect to teachers who have gone through the sleep education program, there was an increase in knowledge about the subject, which may have contributed to the reduction in the frequency of coffee consumption close to bedtime and to the sleep quality improved in 18 % of participants. In the control group, there were random differences in knowledge in 3rd stage, and sleep quality improved in only 9% of teachers. The participation in the sleep education program was not enough to change the hours of sleep and decrease stress of teachers. Therefore, the start time school in the morning was preponderant in determining the wake up time of teachers, especially for intermediates types and those with an evening tendency. Furthermore, the poor quality of sleep was more common in women, and the sleep education program contributed to increase knowledge on the subject and to improve sleep quality.

Pressão de sono e perfil acadêmico de estudante de medicina do 1º período da UFRN

Academic demands, new social context, new routines and decrease of the parental control, are factors that may influence the sleep pattern of freshman students at the University. Medical students from the Federal University of Rio Grande do Norte (UFRN) have a full-time course, subjects with high-level content, and, at the first semester, classes begin at 7 a.m. This group composed by young adults who still suffering with delayed sleep phase, common in adolescence, indicating that this class schedule can be inappropriate at this age. The reduction of nocturnal sleep during school days, and the attempt to recover sleep on free days – social jet lag (JLS), suggests that in the first semester, students suffer from high sleep pressure. High sleep pressure may reflect on cognitive tasks and performance. Therefore, the aim of this study was to investigate the relationship between sleep pressure and the academic profile of medical students from the first semester of UFRN, characterizing this population socio-demographically and investigating possible impacts on therestactivity rhytm and academic performance. A sample of 88 students, healthy men and women awswered the following questionnaires: Pittsburgh Sleep Quality (PSQI), Epworth Sleepiness Scale (ESS), Horne & Ostberg Chronotype (HO), Munich Chronotype (MCTQ) and “Health and Sleep” adapted. Actigraphy was used during 14 days to make actogramas and obtain non-parametric variables of the rest-activity rhythm and the grades of the morning schedule were used as academic performance. The JLS was used as a measure of sleep pressure. Statistics significance level was 95%. The population was sociodemographic homogeneous. Most students have healthy lifestyle, practice physical activity, use car to go to the university and take between 15 and 30 minutes for this route. Regarding CSV, most were classify as intermediate (38.6%) and evening (32%) chronotypes, needs to nap during the week, suffer daytime sleepiness and have poor sleep quality. 83% of the sample has at least 1h JLS, which led us to divide into two groups: Group <2h JLS (N = 44) and Group ≥ 2h JLS (N = 44). The groups have differences only in chronotype, showing that most evening individuals have more JLS, however, no differences were found in relation to sociodemographic aspect, rest-activity rhythm or academic performance. The homogeneity of the sample was limited to compare the groups, however, is alarming that students already present in the first half: JLG, poor sleep quality and excessive daytime sleepiness, which can be accentuated through the university years, with the emergence of night shifts and increased academic demand. Interventionsaddressingthe importance of good sleep habits and the change of the class start time are strategies aimed to improve student’s health.

Influência do jet lag social em marcadores circadianos de atividade - repouso e cardíaco em estudantes de medicina

Studies reveal that in recent decades a decrease in sleep duration has occurred. Social commitments, such as work and school are often not aligned to the "biological time" of individuals. Added to this, there is a reduced force of zeitgeber caused by less exposure to daylight and larger exposure to evenings. This causes a chronic sleep debt that is offset in a free days. Indeed, a restriction and extent of sleep called "social Jet lag" occurs weekly. Sleep deprivation has been associated to obesity, cancer, and cardiovascular risk. It is suggested that the autonomic nervous system is a pathway that connects sleep problems to cardiovascular diseases. However, beyond the evidence demonstrated by studies using models of acute and controlled sleep deprivation, studies are needed to investigate the effects of chronic sleep deprivation as it occurs in the social jet lag. The aim of this study was to investigate the influence of social jet lag in circadian rest-activity markers and heart function in medical students. It is a cross-sectional, observational study conducted in the Laboratory of Neurobiology and Biological Rhythmicity (LNRB) at the Department of Physiology UFRN. Participated in the survey medical students enrolled in the 1st semester of their course at UFRN. Instruments for data collection: Munich Chronotype Questionnaire, Morningness Eveningness Questionnaire of Horne and Östberg, Pittsburgh Sleep Quality Index, Epworth Sleepiness Scale, Actimeter; Heart rate monitor. Analysed were descriptive variables of sleep, nonparametric (IV60, IS60, L5 and M10) and cardiac indexes of time domain, frequency (LF, HF LF / HF) and nonlinear (SD1, SD2, SD1 / SD2). Descriptive, comparative and correlative statistical analysis was performed with SPSS software version 20. 41 students participated in the study, 48.8% (20) females and 51.2% (21) males, 19.63 ± 2.07 years. The social jet lag had an average of 02: 39h ± 00:55h, 82.9% (34) with social jet lag ≥ 1h and there was a negative correlation with the Munich chronotype score indicating greater sleep deprivation in subjects prone to eveningness. Poor sleep quality was detected in 90.2% (37) (X2 = 26.56, p <0.001) and 56.1% (23) excessive daytime sleepiness (X2 = 0.61, p = 0.435). Significant differences were observed in the values of LFnu, HFnu and LF / HF between the groups of social jet lag <2h and ≥ 2h and correlation of the social jet lag with LFnu (rs = 0.354, p = 0.023), HFnu (rs = - 0.354 , p = 0.023) and LF / HF (r = 0.355, p = 0.023). There was also a negative association between IV60 and indexes in the time domain and non-linear. It is suggested that chronic sleep deprivation may be associated with increased sympathetic activation promoting greater cardiovascular risk.

Efeitos de um programa de treino cognitivo e das técnicas de higiene do sono para as funções executivas e para a qualidade de sono em idosos saudáveis

The aging process causes changes in the elderly’s sleep/awake standard impairing their cognitive abilities, particularly executive functioning, which already suffers loss by aging. The literature suggests that executive function and preserved sleep quality are key to maintaining good quality of life and independence of older people, requiring interventions to minimize the impact of losses incurred by the aging process. This study evaluated the effect of a cognitive training program and sleep hygiene techniques for executive functions and sleep quality in healthy older people. The participants were 41 healthy older adults, of both sexes, who were randomly divided into four groups: control group [GC], cognitive training group [GTC], sleep hygiene group [GHS] and training group + hygiene [GTH]. The research was developed in three stages: 1st - initial assessment of cognition and sleep; 2nd - specific intervention to each group; 3rd - post-intervention revaluation. The results showed that GTC had significant improvements in cognitive tasks flexibility, planning, verbal fluency and some aspects of episodic memory, besides gains in sleep quality and decrease on daytime hypersomnolence. The GHS improved sleep quality and daytime sleepiness as well and had significant improvements in insights capacity, planning, attention and in all evaluated aspects of episodic memory. The GTH had significant gains in cognitive flexibility, problem solving, verbal fluency, attention and episodic memory. The CG showed significant worsening in excessive daytime sleepiness in capacity planning. Thus, we conclude that cognitive training interventions and sleep hygiene strategies are useful in improving cognitive performance and quality of healthy elderly sleep.

Sonolência Diurna Excessiva e Otimismo em Estudantes do 1º Ano do Ensino Superior

Os principais objetivos do presente estudo são analisar a prevalência da sonolência diurna excessiva (SDE) em estudantes do Ensino Superior (ES), bem como os seus níveis de otimismo. Participaram no presente estudo 162 estudantes universitários de várias faculdades de ES privado, de ambos os sexos, com idades compreendidas entre os 17 e os 46 anos (M=20,49; DP=5,153) e que frequentavam diferentes cursos (Psicologia, Ciências da Comunicação, Análises Clínicas, Ciências Farmacêuticas e Fisioterapia). O protocolo de recolha de dados foi constituído por um questionário sociodemográfico, dois itens do Questionário do Estado de Saúde (SF-36), a Escala de Sonolência de Epworth (ESE) e a Escala de Orientação para a Vida (LOT-R). A ESE apresentou um valor de alfa de Cronbach de α=0,68 e o LOT-R um valor de alfa de Cronbach de α=0,84. Os principais resultados descritivos mostram uma pontuação média na ESE de 8,98 (DP=3,85), que corresponde a uma prevalência de 32,1% (n=52) de SDE. A pontuação média obtida com a LOT-R foi de 14,3 (DP=4,77), que corresponde a 65,4% (n=106) de estudantes otimistas. Foram encontradas correlações estatisticamente significativas entre a idade e a SDE, mas não entre a SDE e as variáveis de perceção de saúde. Os resultados diferenciais não apresentaram significância estatística na SDE, quando o sexo, o curso e a situação de residência foram tidos em consideração. A idade foi assumida, nas análises de regressão linear, como variável preditora explicativa de 3% da variância dos resultados da ESE. Relativamente ao otimismo, este mostrou-se correlacionado com a perceção do estado de saúde no momento, mas não com a SDE, idade e transição de saúde. Não foi encontrada significância estatística no otimismo quando o sexo, o curso e a situação de residência foram considerados. As análises de regressão linear identificaram como modelo preditor explicativo de cerca de 12% da variação total do LOT-R o modelo que integra a idade e a perceção do estado de saúde no momento. Estudos posteriores devem ser realizados para se aferir a prevalência de SDE e caraterizar o otimismo em estudantes universitários, bem como a relação entre ambos e com outras variáveis relevantes, de foma a apoiar, adequadamente a intervenção.

Relógios biológicos, apetite e sono

Um ritmo circadiano normal, hábitos alimentares saudáveis, prática de exercício físico regular e uma boa higiene de sono constituem fatores imprescindíveis para o bom funcionamento do organismo e para a prevenção de diversas doenças. Os universitários constituem uma população bastante vulnerável a ritmos circadianos anormais, hábitos alimentares pouco saudáveis, sedentarismo e problemas de sono, provenientes das alterações no seu estilo de vida bem como alterações a nível comportamental. O objetivo deste estudo é identificar o cronótipo (matutino, intermédio ou vespertino), os hábitos alimentares e de sono dos alunos universitários. Neste sentido utilizou-se uma amostra de 302 estudantes da Universidade Fernando Pessoa, no qual 238 são do sexo feminino e os restantes 64 são do sexo masculino. Com a finalidade da recolha de dados foi elaborado um questionário através do Formulários do Google. Para avaliar o tipo de cronótipo dos universitários aplicou-se o Morningness-Eveningness Questionnaire (MEQ) e os hábitos de sono foram avaliados a partir do Pittsburgh Sleep Quality Index (PSQI) e da Epworth Sleepiness Scale (ESS). Para avaliar os hábitos alimentares dos participantes formulou-se um conjunto de questões tendo em conta este objetivo. Estes dados foram recolhidos on-line, tendo sido enviado o questionário a todos os alunos da Universidade Fernando Pessoa através do respetivo correio eletrónico institucional. No final desta investigação, foi possível concluir que a maioria dos alunos universitários apresenta um cronótipo intermédio (50 pontos ± 9,43), hábitos alimentares saudáveis e equilibrados e apresenta ainda uma má qualidade de sono (8 pontos ± 2,86) e padrões de sono irregulares, no entanto, não exibem sonolência diurna excessiva (8 pontos ± 3,96).

Sintomatologia depressiva e sono

Os comportamentos depressivos são cada vez mais evidentes na sociedade atual e ocorrem normalmente, a partir da adolescência, sendo a sua incidência maior nas mulheres. Esses comportamentos, que se traduzem em sintomatologia depressiva interferem com vários aspetos do ser humano, desde a sua imagem corporal, aos seus estados nutricional e psicológico, até ao seu estado de saúde em geral, e ao seu padrão de sono. Este trabalho procura explorar as relações entre os hábitos e a qualidade do sono e a sintomatologia depressiva. Foram avaliados 100 profissionais de saúde com horários de trabalho irregulares e com idades compreendidas entre os 20 e os 65 anos : 54 do sexo feminino e 46 do sexo masculino. Aplicou-se um questionário onde se recolheram os seguintes dados: IMC, horário de trabalho, alimentação, consumo de substâncias estimulantes, sintomatologia depressiva, sonolência diurna e qualidade do sono. Relativamente ao IMC verificou-se que 44% dos inquiridos apresenta excesso de peso e 2% já se encontra em Obesidade grau I. Relativamente ao horário de trabalho, 74 % dos inquiridos referiu o turno da manhã como sendo o seu preferencial e 59% disse que o trabalho por turnos que não era vantajoso. Na avaliação da interferência do horário de trabalho por turnos nas diversas atividades extra profissionais verificou-se que quanto ao tempo de lazer 72 % dos inquiridos disse que interfere muito, na vida social e familiar 78 % dos inquiridos diz que interfere muito, nas atividades pessoais 60 % dos inquiridos disse que interfere muito e na alimentação 83 % dos inquiridos diz que interfere muito. Ainda na alimentação, verificou-se que 52% dos inquiridos acha que o tempo que tem disponível não é adequado a uma boa refeição pelo que se verificou uma frequência das refeições irregular nomeadamente ao pequeno almoço, que apenas 47% disse sempre tomar. Relativamente ao consumo de substâncias estimulantes a mais consumida é o café, uma vez que mais de metade (53%) dos inquiridos diz tomar sempre, segue-se o consumo de tabaco, o qual 44% dos inquiridos disse consumir sempre. Quanto ao exercício físico 68% dos inquiridos disse não praticar. Na presença de sintomatologia depressiva, verifica-se que a maior parte dos inquiridos (68%; n=68) apresenta uma sintomatologia depressiva mínima, 24% apresenta depressão ligeira e 8% (n=8) apresenta depressão moderada. A determinação da sonolência diurna, verifica-se que 28% (n=28) dos inquiridos apresenta pouca sonolência diurna, 65% apresenta moderada sonolência diurna e 7% apresenta Sonolência diurna excessiva. Quanto á qualidade do sono, verifica-se que 18 % dos inquiridos tem uma boa qualidade de sono, 53 % tem sono de má qualidade e 29% dos inquiridos apresenta distúrbio de sono. Estas evidências levaram a concluir que existe uma forte relação ente o sono e a sintomatologia depressiva, e que o horário de trabalho por turnos interfere na qualidade de vida dos indivíduos, sendo que a única forma de intervir está na prevenção, incentivando os trabalhadores a hábitos de vida saudáveis e a um controlo periódico do seu estado de saúde.

Myotonic syndromes: analysis of factors with pathogenetic and prognostic significance

Background: The natural history of Myotonic Dystrophy type 1 is largely unclear, longitudinal studies are lacking. Objectives: to collect clinical and laboratory data, to evaluate sleep disorders, somatic and autonomic skin fibres, neuropsychological and neuroradiological aspects in DM1 patients. Methods: 72 DM1 patients underwent a standardized clinical and neuroradiological evaluation performed by a multidisciplinary team during 3 years of follow-up. Results: longer disease duration was associated with higher incidence of conduction disorders and lower ejection fraction; higher CVF values were predictors for a reduced risk of cardiopathy. Lower functional pulmonary values were associated with class of expansion and were negatively associated with disease duration; arterial blood gas parameters were not associated with expansion size, disease duration nor with respiratory function test. Excessive daytime sleepiness was not associated with class of expansion nor with any of the clinical parameters examined. We detected apnoea in a large percentage of patients, without differences between the 3 genetic classes; higher CVF values were predictors for a reduced risk of apnoea. Skin biopsies demonstrated the presence of a subclinical small fibre neuropathy with involvement of the somatic fibres. The pupillometry study showed lower pupil size at baseline and a lower constriction response to light. The most affected neuropsychological domains were executive functions, visuoconstructional, attention and visuospatial tasks, with a worse performance of E1 patients in the visuoperceptual ability and social cognition tasks. MRI study demonstrated a decrease in the volumes of frontal, parietal, temporal, occipital cortices, accumbens, putamen nuclei and a more severe volume reduction of the isthmus cingulate, transverse temporal, superior parietal and temporal gyri in E2 patients. Discussion: only some clinical parameters could predict the risk of cardiopathy, pulmonary syndrome and sleep disorders, while other clinical aspects proved to be unpredictable, confirming the importance of periodic clinical follow-up of these patients.

Sleepiness, sleep-disordered breathing, and accident risk factors in commercial vehicle drivers

Sleep-disordered breathing and excessive sleepiness may be more common in commercial vehicle drivers than in the general population. The relative importance of factors causing excessive sleepiness and accidents in this population remains unclear. We measured the prevalence of excessive sleepiness and sleep-disordered breathing and assessed accident risk factors in 2,342 respondents to a questionnaire distributed to a random sample of 3,268 Australian commercial vehicle drivers and another 161 drivers among 244 invited to undergo polysomnography. More than half (59.6%) of drivers had sleep-disordered breathing and 15.8% had obstructive sleep apnea syndrome. Twenty-four percent of drivers had excessive sleepiness. Increasing sleepiness was related to an increased accident risk. The sleepiest 5% of drivers on the Epworth Sleepiness Scale and Functional Outcomes of Sleep Questionnaire had an in-creased risk of an accident (odds ratio [OR] 1.91, p = 0.02 and OR 2.23, p < 0.01, respectively) and multiple accidents (OR 2.67, p < 0.01 and OR 2.39, p = 0.01), adjusted for established risk factors. There was an increased accident risk with narcotic analgesic use (OR 2.40, p < 0.01) and antihistamine use (OR 3.44, p = 0.04). Chronic excessive sleepiness and sleep-disordered breathing are common in Australian commercial vehicle drivers. Accident risk was related to increasing chronic sleepiness and antihistamine and narcotic analgesic use.

Study into the use of continuous positive airway pressure in obstructive sleep apnoea-hypopnoea syndrome patients with daytime drowsiness

Background: Obstructive sleep apnoea-hypopnoea syndrome (OSAHS) is a respiratory disorder with high morbidity and mortality. Continuous positive airway pressure (CPAP) is the most commonly prescribed conservative treatment for adults with OSAHS. CPAP therapy normalises or decreases OSAHS symptoms and can reduce and prevent OSAHS complications. Aims: To evaluate adherence to nasal CPAP treatment and CPAP impact on daytime drowsiness. Method: A sample of 20 patients evaluated for daytime drowsiness using the Epworth sleepiness scale and interviewed for adherence to nasal CPAP use. Results: There was a significant decrease in the level of daytime sleepiness of the patients users of nasal CPAP (p=0.017); patients not using nasal CPAP experienced a decrease without statistical significance (p=0.162). 100% of CPAP users reported benefits and 50% of these reported related discomforts. Conclusions: Patients with OSAHS that use CPAP have a greater reduced level of sleepiness than those who do not use it.

Troubles du sommeil chez des patients présentant une insuffisance rénale chronique [Sleep disorders in patients with chronic renal insufficiency].

Sleep disorders, especially insomnia, daytime sleepiness, sleep apnea syndrome and restless legs syndrome are very frequently encountered in patients with chronic renal failure whether or not they undergo renal replacement therapy. The causes of sleep disorders are multifactorial and not only linked to the renal disease itself, but also to its treatment and its associated psychosocial factors. This article discusses the prevalence and physiopathology of the most frequently encountered sleep disorders in chronic renal failure patients, and highlights the actually available therapeutic options.

Percepción de calidad de vida relacionada con la salud en pacientes con síndrome de apnea e hipoapnea obstructiva del sueño

El objetivo de esta investigación es describir la calidad de vida y la calidad del sueño en los pacientes con diagnóstico de Síndrome de Apnea Hipoapnea del sueño, mediante el uso de un grupo de cuestionarios para obtener datos demográficos, la evaluación del grado de somnolencia diurna percibida, la percepción de la calidad del sueño y la percepción de la calidad de vida relacionada con la salud con encuestas en sus respectivas versiones validadas para Colombia.

La farmacogenetica della narcolessia: comorbidità psichiatriche e risvolti in sanità pubblica

La farmacogenetica fornisce un importante strumento utile alla prescrizione farmacologica, migliorando l’efficacia terapeutica ed evitando le reazioni avverse. Il citocromo P450 gioca un ruolo centrale nel metabolismo di molti farmaci utilizzati nella pratica clinica e il suo polimorfismo genetico spiega in gran parte le differenze interindividuali nella risposta ai farmaci. Con riferimento alla terapia della narcolessia, occorre premettere che la narcolessia con cataplessia è una ipersonnia del Sistema Nervoso Centrale caratterizzata da eccessiva sonnolenza diurna, cataplessia, paralisi del sonno, allucinazioni e sonno notturno disturbato. Il trattamento d’elezione per la narcolessia include stimolanti dopaminergici per la sonnolenza diurna e antidepressivi per la cataplessia, metabolizzati dal sistema P450. Peraltro, poiché studi recenti hanno attestato un’alta prevalenza di disturbi alimentari nei pazienti affetti da narcolessia con cataplessia, è stata ipotizzata una associazione tra il metabolismo ultrarapido del CYP2D6 e i disturbi alimentari. Lo scopo di questa ricerca è di caratterizzare il polimorfismo dei geni CYP2D6, CYP2C9, CYP2C19, CYP3A4, CYP3A5 e ABCB1 coinvolti nel metabolismo e nel trasporto dei farmaci in un campione di 108 pazienti affetti da narcolessia con cataplessia, e valutare il fenotipo metabolizzatore in un sottogruppo di pazienti che mostrano un profilo psicopatologico concordante con la presenza di disturbi alimentari. I risultati hanno mostrato che il fenotipo ultrarapido del CYP2D6 non correla in maniera statisticamente significativa con i disturbi alimentari, di conseguenza il profilo psicopatologico rilevato per questo sottogruppo di pazienti potrebbe essere parte integrante del fenotipo sintomatologico della malattia. I risultati della tipizzazione di tutti i geni analizzati mostrano un’alta frequenza di pazienti con metabolismo intermedio, elemento potenzialmente in grado di influire sulla risposta terapeutica soprattutto in caso di regime politerapico, come nel trattamento della narcolessia. In conclusione, sarebbe auspicabile l’esecuzione del test farmacogenetico in pazienti affetti da narcolessia con cataplessia.