[Constructing a cataplexy face prediction model for narcolepsy type 1 based on ResNet-18].

Objective: To establish a prediction model for the identifying of cataplexy facial features based on clinical shooting videos by using a deep learning image recognition network ResNet-18. Methods: A cross-sectional study. Twenty-five narcolepsy type 1 patients who were first diagnosed and never received treatment and 25 healthy controls recruited by advertisement in the Second Affiliated Hospital of Nanchang University from 2020 to 2023.After image preprocessing, a total of 1 180 images were obtained, including 583 cataplexy faces and 597 normal faces.90% were selected as the training set and validation set, and then expanded the data by 5 times.80% of the expanded data set was extracted as the training set and 20% as the validation set, that is, the number of the training set was (583+597)×0.9×0.8×5=4 248, the number of the validation set was (583+597)×0.9×0.2×5=1 062. The data sets for training and validation were used train parameters to establish the model and were trained through the five-fold cross-validation method, to establish the ResNet-18 cataplexy face recognition model via transfer learning.10% (118 images) of the original non-amplified images were extracted as the test set. The test set data did not participate in data enhancement and model training, and was only used to evaluate the final performance of the model. Finally, ResNet-18 was compared with VGG-16, ResNet-34 and Inception V3 deep learning models, and the receiver operating characteristic curve was used to evaluate the value of ResNet-18 image recognition network in cataplexy face recognition. Results: Among 25 patients with narcolepsy type 1, 15 were males and 10 were females, aged [M (Q1, Q3)] of 14.0(11.0, 20.5) years.Among 25 healthy controls, 14 were males and 11 were females, with a median age of 16.0(14.4, 23.0) years.The overall accuracy of ResNet-18 image recognition network in the test set was 90.9%, the sensitivity was 96.4% and the specificity was 85.2%. The area under the ROC curve was 0.99(95%CI:0.96-1.00). The ResNet-18 model parameter amount was 11.69 M, the floating point operation amount was 1 824.03 M, and the single image recognition time was 5.9 ms. Conclusions: The cataplexy face prediction model built based on the deep learning image recognition network ResNet-18 has a high accuracy in identifying cataplexy faces.

Narcolepsy: an interface among neurology, immunology, sleep, and genetics.

Narcolepsy is a primary disorder of the central nervous system resulting from genetic, environmental, and immunological interactions defined as excessive daytime sleepiness plus cataplexy, hallucinations, sleep paralysis, and sleep fragmentation. The pathophysiology is not entirely known, but the interaction among genetic predisposition, environmental exposition, and immune component with consequent hypocretin-1 deficiency is the model to explain narcolepsy type I. The mechanism of narcolepsy type II is less understood. There is a delay of over ten years for the diagnosis of narcolepsy around the world. Patients with narcolepsy have many comorbidities with a negative impact on quality of life. The treatment of narcolepsy must contain an educational approach for the family, coworkers, and patients. Scheduled naps and sleep hygiene are essential to minimize the dose of medications. Much progress has been seen in the pharmacological treatment of narcolepsy with new stimulants, different presentations of oxybate, and recent studies with orexin agonists. Narcolepsy is a rare disease that needs to be more understood and highlighted to avoid delayed diagnosis and severe disabilities in patients.

A narcolepsia é um distúrbio primário do sistema nervoso central resultante das interações genéticas, ambientais e imunológicas definidas como sonolência diurna excessiva mais cataplexia, alucinações, paralisia do sono e fragmentação do sono. A fisiopatologia não é completamente conhecida, mas a interação entre predisposição genética, exposição ambiental e componente imunológico com consequente deficiência de hipocretina-1 é o modelo para explicar a narcolepsia tipo I. O mecanismo da narcolepsia tipo II é menos compreendido. Há um atraso de mais de dez anos para o diagnóstico da narcolepsia em todo o mundo. Pacientes com narcolepsia apresentam muitas comorbidades com impacto negativo na qualidade de vida. O tratamento da narcolepsia deve conter uma abordagem educativa para a família, colegas de trabalho e pacientes. Cochilos programados e higiene do sono são importantes para minimizar a dose dos medicamentos. Muito progresso foi observado no tratamento farmacológico da narcolepsia com novos estimulantes, diferentes apresentações de oxibato e estudos recentes com agonistas de orexina. A narcolepsia é uma doença rara que precisa ser mais compreendida e destacada para evitar atrasos no diagnóstico e incapacidades graves nos pacientes.

Making sense of narcolepsy: A qualitative exploration of how persons with narcolepsy perceive symptoms and their illness experience.

INTRODUCTION: Understanding how persons with narcolepsy conceptualize symptoms, daily impact and illness experience is key to facilitating dialogue between patients and healthcare professionals. These concepts are usually explored from the perspective of healthcare professionals/researchers and rarely from the perspective of those with narcolepsy. METHODS: 127 self-reported persons with narcolepsy were recruited from an Australian patient support group. A short demographic survey was completed. All agreed to participate in a subsequent 1:1 semi-structured interview. Saturation was reached after 24 interviews (mean age = 33 years (SD 11) with 44% reporting cataplexy). A multidisciplinary team of researchers/clinicians analyzed interview transcripts using thematic analysis. RESULTS: Participants perceived physical fatigue, sleepiness, and two separate experiences of 'falling asleep/sleep attacks' as distinct symptoms rather than a multidimensional construct (i.e. excessive daytime sleepiness). We also identified two experiences of cataplexy, one triggered by acute emotion and another by a stressor. Participants determined their narcolepsy to be 'well-managed' by the level of functional impairment rather than the frequency of any symptom. Almost all participants described experiencing anticipated stigma and internalized or 'self-' stigma, likely stemming from societal devaluation of sleep and the conflation of sleepiness with laziness. CONCLUSION: Descriptions of common symptoms often differed between participants and the existing literature. These differences likely impact patient-physician communication, with both parties utilizing the same terminology to communicate different concepts. The characterization of stigma in narcolepsy presents opportunities for future research exploring the impact and possible development of interventions to reduce the substantial psychological comorbidity in persons with narcolepsy.

A vertebrate family without a functional Hypocretin/Orexin arousal system.

The Hypocretin/Orexin signaling pathway suppresses sleep and promotes arousal, whereas the loss of Hypocretin/Orexin results in narcolepsy, including the involuntary loss of muscle tone (cataplexy).1 Here, we show that the South Asian fish species Chromobotia macracanthus exhibits a sleep-like state during which individuals stop swimming and rest on their side. Strikingly, we discovered that the Hypocretin/Orexin system is pseudogenized in C. macracanthus, but in contrast to Hypocretin-deficient mammals, C. macracanthus does not suffer from sudden behavioral arrests. Similarly, zebrafish mutations in hypocretin/orexin show no evident signs of cataplectic-like episodes. Notably, four additional species in the Botiidae family also lack a functional Hypocretin/Orexin system. These findings identify the first vertebrate family that does not rely on a functional Hypocretin/Orexin system for the regulation of sleep and arousal.

Vagus nerve stimulation for the treatment of narcolepsy.

BACKGROUND AND OBJECTIVE: No study on neurostimulation in narcolepsy is available until now. Arousal- and wake-promoting effects of vagus nerve stimulation (VNS) have been demonstrated in animal experiments and are well-known as side effects of VNS therapy in epilepsy and depression. The objective was to evaluate the therapeutic effect of VNS on daily sleepiness and cataplexies in narcolepsy. METHODS: In our open-label prospective comparative study, we included narcolepsy patients who were treated with VNS because of depression or epilepsy and compared them to controls without narcolepsy treated with VNS for depression or epilepsy (18 patients in each group, aged 31.5 ± 8.2 years). We evaluated daily sleepiness (Epworth Sleepiness Scale, ESS) and the number of cataplexies per week before the implantation of VNS and at three and six month follow-ups. RESULTS: Compared to baseline (ESS: 15.9 ± 2.5) patients with narcolepsy showed a significant improvement on ESS after three months (11.2 ± 3.3, p < 0.05) and six months (9.6 ± 2.8, p < 0.001) and a trend to reduction of cataplexies. No significant ESS-improvement was observed in patients without narcolepsy (14.9 ± 3.9, 13.6 ± 3.7, 13.2 ± 3.5, p = 0.2 at baseline, three and six months, correspondingly). Side effects did not differ between the study groups. CONCLUSION: In this first evaluation of VNS in narcolepsy, we found a significant improvement of daily sleepiness due to this type of neurostimulation. VNS could be a promising non-medical treatment in narcolepsy.

Identification of bidirectional causal links between gut microbiota and narcolepsy type 1 using Mendelian randomization.

STUDY OBJECTIVES: Narcolepsy type 1 (NT1), characterized by cataplexy and orexin deficiency, is a rare and frequently debilitating neurological disorder. It has been noted to have connections with the gut microbiota, yet the exact causal relationships remain unclear. METHODS: We conducted a comprehensive bidirectional Mendelian randomization (MR) study to rigorously investigate the causal links between the gut microbiota and NT1, utilizing genetic datasets from the MiBioGen consortium and FinnGen consortium, respectively. The inverse-variance weighted (IVW) method was employed to obtain the primary MR estimates, supplemented by several alternative methods as well as sensitivity analyses including Cochran's Q, MR-Egger, MR pleiotropy residual sum and outlier, leave-one-out, and genetic colocalization. RESULTS: Our findings indicated that an increased relative abundance of five genera including Blautia (p = 4.47E-5), Collinsella (p = 0.036), Gordonibacter (p = 0.047), Hungatella (p = 0.015), and Lachnospiraceae UCG010 (p = 0.027) may be associated with a decreased risk of NT1. Conversely, an increased relative abundance of class Betaproteobacteria (p = 0.032), genus Alloprevotella (p = 0.009), and genus Ruminiclostridium6 (p = 0.029) may potentially heighten the risk of NT1. The onset of NT1 may lead to a decrease in the relative abundance of genus Eubacterium eligens group (p = 0.022), while a increase in the family Family XI (p = 0.009), genus Hungatella (p = 0.005), genus Prevotella (p = 0.013), and unknown genus id.2001 (p = 0.019). These findings remained robust under all sensitivity analyses. CONCLUSIONS: Our results offer robust evidence for the bidirectional causal links between particular gut microbial taxa and NT1, underscoring the significance of the microbiota-gut-brain axis in the pathological process of NT1.

Bi-allelic variants in HCRT cause autosomal recessive narcolepsy.

Narcolepsy with cataplexy is a complex disease with both genetic and environmental risk factors. To gain further insight into the homozygous HCRT-related narcolepsy, we present a case series of five patients from two consanguineous families, each harboring a novel homozygous variant of HCRT c.17_18del. All affected individuals exhibited severe cataplexy accompanied by narcolepsy symptoms during infancy. Additionally, cataplexy symptoms improved or disappeared in the majority of patients over time. Pathogenic variants in HCRT cause autosomal recessive narcolepsy with cataplexy. Genetic testing of the HCRT gene should be conducted in specific subgroups of narcolepsy, particularly those with early onset, familial cases, and a predominantly cataplexy phenotype.

Parálisis de sueño durante la siesta como síntoma inicial de narcolepsia / Sleep paralysis during naptime as initial symptom of narcolepsy

Introducción: La narcolepsia es una enfermedad de etiología desconocida, de prevalencia muy baja (el 0,02-0,16% en adultos, aunque debe ser mayor, dado el infradiagnóstico), caracterizada por la presencia de somnolencia diurna excesiva, alucinaciones hipnagógicas y/o hipnopómpicas, parálisis de sueño y/o cataplejía (si está presente, se habla de narcolepsia de tipo 1 y, si no, de narcolepsia de tipo 2), cuya media de retraso diagnóstico se sitúa entre los 10 y los 15 años. Caso clínico: Varón de 16 años que consulta tras visitar a distintos especialistas por presentar parálisis de sueño durante las siestas, que le producen miedo y ocasional caída de objetos de las manos (diagnosticadas como posibles mioclonías). En la anamnesis nos sorprendió la presencia de parálisis de sueño inmediatamente tras el inicio de las siestas y, en la anamnesis dirigida, esos movimientos bruscos provocados por emociones eran compatibles con cataplejías, por lo que realizamos un estudio polisomnográfico nocturno y un test de latencias múltiples del sueño. Con la evolución aparecieron alucinaciones hipnopómpicas y sueño fragmentado nocturno, así como ocasional somnolencia diurna (se completó así la tétrada sintomatológica típica de la narcolepsia con cataplejía de tipo 1). Conclusión: Es importante el conocimiento de esta enfermedad, plantearla como diagnóstico diferencial en pacientes con episodios de somnolencia incoercible, realizar la derivación a consultas especializadas en trastornos de sueño y una buena anamnesis dirigida, e indicar las pruebas complementarias necesarias para el diagnóstico de esta enfermedad infradiagnosticada para su correcto manejo, tan determinante para la mejora de la calidad de vida de estos pacientes.(AU)

Introduction: Narcolepsy is a disease of unknown etiology, with a very low prevalence (0.02-0.16% in adults, although it must be higher, given the underdiagnosis), characterized by the presence of excessive daytime sleepiness, hypnagogic and/or hypnopompic hallucinations, sleep paralysis and/or cataplexy (if present, we speak of type 1 narcolepsy and, if not, type 2 narcolepsy), whose average diagnostic delay is between 10 and 15 years. Case report: A 16-year-old male who consulted after visiting different specialists for presenting sleep paralysis during naps, which cause him fear and occasional objects falling from his hands (diagnosed as possible myoclonus). In the anamnesis we were surprised by the presence of sleep paralysis immediately after the start of the naps and, in the directed anamnesis, these sudden movements caused by emotions were compatible with cataplexies, so we performed a nocturnal polysomnographic study and a multiple sleep latency test. With evolution came hypnopompic hallucinations and fragmented nocturnal sleep, as well as occasional daytime sleepiness (thus completing the typical symptomatic tetrad of type 1 narcolepsy with cataplexy). Conclusion: Knowledge of this disease is important, considering it as a differential diagnosis in patients with episodes of intractable sleepiness, send these patients to expert doctors in sleep disorders and doing a good anamnesis, performing the necessary complementary tests for the diagnosis of this underdiagnosed disease for its correct management, which is decisive for improving the quality of life of these patients.(AU)

Narcolepsia multirresistente / Multidrug resistant narcolepsy

Introducción: La narcolepsia de tipo 1 es una enfermedad degenerativa focal del hipotálamo que afecta selectivamente a las neuronas productoras de orexina (hipocretina). Presenta múltiples manifestaciones clínicas, tanto en vigilia como en sueño. Con frecuencia, los síntomas son tan disruptivos que ocasionan enorme sufrimiento y deterioro de la calidad de vida de los pacientes. Aunque en ocasiones es suficiente con un abordaje no farmacológico, la gran mayoría de los enfermos necesita medicación para un adecuado control clínico. Caso clínico: Varón que a los 43 años comenzó a presentar de forma aguda excesiva somnolencia diurna y episodios de cataplejía. Tras un exhaustivo estudio se le diagnosticó narcolepsia de tipo 1. A lo largo de la evolución de la enfermedad se le prescribieron antidepresivos, neuroestimulantes y oxibato sódico, en monoterapia o en combinación. La respuesta al tratamiento farmacológico fue insuficiente y se acompañó de numerosos efectos secundarios. Tras la introducción de pitolisant se objetivó una franca mejoría de los síntomas, y se consiguió reducir la dosis de los otros fármacos y de sus efectos adversos. Conclusión: Son numerosas las medidas disponibles en la actualidad para abordar los síntomas cardinales de la enfermedad, aunque siguen existiendo casos resistentes al tratamiento antinarcoléptico. Los fármacos con mecanismos de acción sobre receptores del sistema histaminérgico pueden resultar de gran utilidad en estos casos.(AU)

Introduction: Narcolepsy type 1 is a focal degenerative disease of the hypothalamus that selectively affects orexin (hypocretin)-producing neurons. It presents multiple clinical manifestations, both in wakefulness and in sleep. The symptoms are often so disruptive that they cause enormous suffering and impair patients’ quality of life. Although a non-pharmacological approach is sometimes sufficient, the vast majority of patients need medication for adequate clinical management. Case report: A male who, at 43 years of age, began to present acutely with excessive daytime sleepiness and episodes of cataplexy. After a thorough examination, he was diagnosed with narcolepsy type 1. Throughout the course of the disease, he was prescribed antidepressants, neurostimulants and sodium oxybate, in monotherapy or in combination. The response to pharmacological treatment was insufficient and accompanied by numerous side effects. Following the introduction of pitolisant, there was a marked improvement in his symptoms and a reduction in the dose of the other drugs and their adverse effects was achieved. Conclusion: A number of measures are now available to address the cardinal symptoms of the disease, although there are still cases that are resistant to anti-narcoleptic treatment. Drugs with mechanisms of action that act upon receptors in the histaminergic system can be very useful in these cases.(AU)

Efecto a largo plazo del oxibato de sodio en la somnolencia diurna y en la estructura del sueño en pacientes con narcolepsia de tipo 1 / Long-term follow-up on the effects of sodium oxybate on daytime sleepiness and sleep architecture in patients with narcolepsy type 1

Introducción: El oxibato de sodio (SXB) se utilizó en 1979 en 16 enfermos con narcolepsia-cataplejía (NT1) que mejoraron tras 20 meses de tratamiento. Objetivos: Evaluar el efecto del SXB en la somnolencia diurna y en la estructura del sueño mediante videopolisomnografía en una muestra de 23 enfermos de NT1 (13 hombres y 10 mujeres) tratados durante tres años. Investigamos adicionalmente la presencia de comorbilidad. Pacientes y métodos: Diagnosticamos a los enfermos de acuerdo con la Clasificación Internacional de Trastornos del Sueño, tercera edición. Realizamos un estudio longitudinal, observacional y de videopolisomnografía, comparando los parámetros de sueño y los índices de apnea-hipopnea y de movimientos periódicos de las piernas de los enfermos, tratados con una dosis nocturna inicial de 4,5 g de SXB al cabo de seis meses (C-1), un año (C-2) y tres años (C-3) de tratamiento ininterrumpido.Resultados: Todos los enfermos eran HLA-DQB1*06:02 positivos, excepto un caso familiar. Trece enfermos (56%) interrumpieron el tratamiento debido a las dos tomas nocturnas, así como a la presencia de efectos secundarios, comorbilidad y embarazo. Encontramos diferencias significativas en C-2 en la estructura del sueño con aumento del estadio N2 (p < 0,03) y del índice de movimientos periódicos de las piernas (p < 0,01). En el control C-3 encontramos diferencias significativas en la estructura del sueño con aumento del estadio N1 (p = 0,03), y de los índices de movimientos periódicos de las piernas y de apnea-hipopnea. Conclusiones: El SXB se administró en dos dosis nocturnas, lo que, unido a la fragmentación del sueño y a la aparición de comorbilidades, condujo a la interrupción del tratamiento a largo plazo.(AU)

Introduction: Sodium oxybate (SXB) was administered for the first time in 1979 in 16 patients with narcolepsy with cataplexy (NT1) that improved up to 20 months. Aims: To evaluate the effect of SXB on daytime sleepiness and sleep architecture by video-polysomnography in a sample of 23 NT1 adult patients (13 men, 10 females) treated up to three years. Additional goal was to study the presence of sleep comorbidities. Patients and methods: NT1 patients were diagnosed according to International Classification of Sleep Disorders, third edition. We conducted a longitudinal observational study and a video-polysomnography comparing the sleep parameters of patients treated with an initial nocturnal dose of 4.5 g of SXB after six months (FU-1), one year (FU-2) and three years (FU-3) of uninterrupted treatment. Video-polysomnography parameters were analyzed including apnea-hypopnea and periodic leg movements indexes. Results: Patients were HLA-DQB1*06:02 positive except a familial case. Thirteen patients (56%) discontinued SXB treatment over the three-year of the study. The two-nightly doses has been one of the reason for discontinuing treatment as well as insufficient compliance, mild or severe side effects, comorbidities and pregnancy. We found significant differences at FU-2 in sleep structure with an increased in stage N2 (p < 0.03) and a higher periodic leg movements index (p < 0.01). At FU-3 we found significant differences in sleep structure with an increase in stage N1 (p = 0.03) and in comorbidities (periodic leg movements an apnea-hypopnea indexes). There was not significant change on daytime sleepiness during the study. Conclusions: SXB was administered in low-medium doses. Two-nightly doses and sleep fragmentation linked to sleep comorbidities at long-term lead to drug withdrawal.(AU)

Atypical isolated cataplexy: two case reports and a mini-review.

Cataplexy is the sudden loss of muscle tone often provoked by emotion such as laughter or excitement. Cataplexy is one of the essential diagnostic features of Narcolepsy type 1 (NT1). We describe two cases of isolated cataplexy with different outcomes, highlighting the diagnostic and prognostic challenges. There is conflicting literature as to whether it is a legitimate standalone diagnosis or an early warning sign of narcolepsy. Our cases do not fit with current diagnostic criteria for narcolepsy, yet still share some clinical or laboratory features. These ambiguous cases question what the mechanistic relationship between narcolepsy and cataplexy may be.

Estudio WAKE de vida real en pacientes con narcolepsia con cataplejía tratados con pitolisant no respondedores a tratamientos previos / Real-life WAKE study in narcolepsy patients with cataplexy treated with pitolisant and unresponsive to previous treatments

Introducción: La narcolepsia de tipo 1 es una enfermedad incapacitante que requiere tratamiento continuo, que no siempre es eficaz. El pitolisant es un nuevo fármaco con un mecanismo de acción diferente que ofrece una nueva opción de tratamiento. El objetivo del estudio fue analizar la efectividad y la seguridad del pitolisant en pacientes con narcolepsia de tipo 1 que no hubieran respondido o tolerado previamente los tratamientos habituales. Pacientes y métodos: Estudio observacional descriptivo multicéntrico de vida real que incluyó a pacientes diagnosticados de narcolepsia de tipo 1 no respondedores a tratamientos previos que iniciaron tratamiento con pitolisant. El estudio evaluó tres momentos: el inicio del tratamiento, la estabilización del tratamiento con pitolisant y los tres meses posteriores. Resultados: En 32 pacientes incluidos (media de edad, 44 años; 37,5% de mujeres), la media de la escala de somnolencia de Epworth se redujo de 17,1 a 13,5; un 47,8% de los pacientes mejoró subjetivamente de su cataplejía; un 65% de los pacientes mejoró su impresión clínica global a criterio médico y a criterio del paciente; y se redujo la media de medicamentos consumidos de 2,0 a 1,4. El efecto adverso más frecuente fue el insomnio, en un 43,8% de los pacientes. De los 32 pacientes, 23 mantuvieron el tratamiento durante los tres meses de seguimiento. Conclusiones: En pacientes con narcolepsia de tipo 1 que no responden a o no toleran los tratamientos disponibles, el pitolisant puede mejorar su situación clínica y reducir su consumo de medicamentos. Son necesarios estudios de mayor nivel de evidencia para confirmar estos resultados.(AU)

INTRODUCTION: Type 1 narcolepsy is a disabling disease that requires continuous treatment, which is not always effective. Pitolisant is a new drug with a different mechanism of action that offers a new treatment option. The objective of the study was to analyse the effectiveness and safety of pitolisant in patients with type 1 narcolepsy that did not respond to or tolerate previous standard treatments. PATIENTS AND METHODS: Real-life multicentre descriptive observational study that included patients diagnosed with type 1 narcolepsy who did not respond to or tolerate previous treatments and started treatment with pitolisant. The study evaluated three different moments: the start of treatment, the stabilization of treatment with pitolisant and the three months after. RESULTS: In 32 patients included (mean age, 44 years; 37.5% women) the mean of the Epworth Sleepiness Scale was reduced from 17.1 to 13.5; 47.8% of the patients improved from their cataplexy; 65% of the patients improved their clinical global impression at the physician’s and at the patient’s discretion and the mean number of medications consumed was reduced from 2.0 to 1.4. The most frequent adverse effect was insomnia in 43.8% of patients. Of the 32 patients, 23 continued with the treatment during the 3-month follow-up period. CONCLUSIONS: In patients with type I narcolepsy who do not respond to or do not tolerate the available treatments, pitolisant can improve their clinical situation and reduce their medication consumption. Studies with a higher level of evidence are needed to confirm these results.(AU)

Narcolepsia na infância: a atuação multidisciplinar com a psicologia do sono do diagnóstico ao tratamento em um relato de caso / Child narcolepsy: the multidisciplinary approach with sleep psychology from diagnostics to treatment in a case report / Narcolepsia en la infancia: actuación multidisciplinar con la psicología del sueño desde el diagnóstico hasta el tratamiento en un caso clínico

A narcolepsia, distúrbio neurológico crônico caracterizado pela sonolência diurna excessiva, pode ser associada à cataplexia, fragmentação do sono, alucinações relacionadas ao sono e paralisia do sono. Frequentemente, é confundida com outros transtornos, como Transtorno do Déficit de Atenção com Hiperatividade (TDAH), epilepsia e até esquizofrenia, assim, por vezes, é diagnosticada inadequadamente. Objetiva-se relatar o diagnóstico diferencial bem-sucedido da narcolepsia na infância e suas dificuldades, realizado por uma equipe multidisciplinar, enfocando a atuação da psicologia do sono em avaliação e intervenção. Um menino de 10 anos foi recebido no Ambulatório de Narcolepsia e Apneia do Sono Infantil (AMBNAP), alocado no Hospital Universitário Onofre Lopes da Universidade Federal do Rio Grande do Norte (UFRN) com queixas de sonolência diurna excessiva, sono fragmentado e episódios de perda de tônus muscular. Foi submetido a entrevistas psiquiátrica e psicológica pormenorizadas, a exames, aplicação de escalas específicas para rastreio e diagnóstico de transtornos de sono e diário de sono, solicitação de recursos de mídia e de relatório escolar e avaliação neurológica. A partir da investigação multidisciplinar, o diagnóstico foi de Narcolepsia e Síndrome da Apneia Obstrutiva do Sono (SAOS). O paciente foi submetido a técnicas da Terapia Cognitivo-Comportamental (TCC) e segue em acompanhamento, apresentando resultados satisfatórios. Este estudo evidencia que uma equipe multidisciplinar especializada na área de sono atuando em conjunto com a Psicologia do Sono oportuniza o diagnóstico e intervenções precoces eficazes para o tratamento do distúrbio do sono na infância.(AU)

Narcolepsy is a chronic neurologic disorder characterized by excessive daytime sleepiness which can be associated with cataplexy, sleep fragmentation, sleep-related hallucinations, and sleep paralysis. This sleep disorder is often confused with other disorders such as Attention Deficit Hyperactivity Disorder (ADHD), epilepsy, and even schizophrenia, and is, thus, misdiagnosed. This study aims to report the successful differential diagnosis for childhood narcolepsy carried out by a multidisciplinary team and its challenges, with a focus on the role of sleep psychology in assessment and intervention. A 10-year-old child was received at the Child Narcolepsy and Sleep Apnea Clinic (AMBNAP), located at the Onofre Lopes University Hospital of the Federal University of Rio Grande do Norte (UFRN), with complaints of hypersomnolence, fragmented sleep, and episodes of loss of muscle tone. He underwent detailed psychiatric and psychological interviews, analysis of exams, application of specific scales for screening and diagnosis of sleep disorders and sleep diary, request of media resources and school report, and neurological assessment. From the multidisciplinary investigation, excluding of other neurological diagnoses, the diagnosis was Narcolepsy and Obstructive Sleep Apnea Syndrome (OSAS). The patient was submitted to Cognitive Behavioral Therapy (CBT) techniques, such as psychoeducation, scheduled naps, cognitive therapy for dysfunctional beliefs, and sleep hygiene strategies, and continues to be followed up, with satisfactory results since the first two months of intervention. The findings presented in this study show that a multidisciplinary team specialized in the sleep area, acting alongside Sleep Psychology provides early diagnosis and interventions for the sleep disorder treatment in childhood.(AU)

La narcolepsia es un trastorno neurológico crónico caracterizado por somnolencia diurna excesiva que puede asociarse con cataplejía, fragmentación del sueño, alucinaciones relacionadas con el sueño y parálisis del sueño. El trastorno del sueño a menudo se confunde con otros trastornos como el TDAH, la epilepsia e incluso la esquizofrenia, y se diagnostica erróneamente. El objetivo es presentar el diagnóstico diferencial exitoso de la narcolepsia en la infancia y sus dificultades, realizado por un equipo multidisciplinario, con foco en el papel de la psicología del sueño en la evaluación e intervención. El estudiante de 10 años fue recibido en la Clínica de Narcolepsia Infantil y Apnea del Sueño (AMBNAP), ubicada en el Hospital Universitario Onofre Lopes de la Universidad Federal de Rio Grande do Norte, con quejas de hipersomnolencia, sueño fragmentado y episodios de pérdida de tono muscular. Se sometió a entrevistas psiquiátricas y psicológicas detalladas, análisis de exámenes, aplicación de escalas específicas para la detección y diagnóstico de trastornos del sueño y el diario del sueño, solicite recursos de medios y informe escolar y evaluación neurológica. La investigación multidisciplinaria, el diagnóstico fue Narcolepsia y SAOS. El paciente fue sometido a técnicas de terapia cognitivo-conductual (TCC), como psicoeducación, siestas programadas, terapia cognitiva por creencias disfuncionales y estrategias de higiene del sueño, y se le dio seguimiento con resultados satisfactorios. Los resultados demostraron que un equipo multidisciplinario especializado en el campo del sueño, actuando en conjunto con la psicología del sueño, proporciona el diagnóstico y las intervenciones tempranas para el trastorno del sueño de la narcolepsia en la infância.(AU)

Narcolepsia y anestesia libre de opioides: revisión y caso clínico / Narcolepsy and opioid-free anesthesia: a review and case report

Introducción: La narcolepsia es el segundo trastorno del sueño en frecuencia y se caracteriza por somnolencia excesiva durante el día junto con otros síntomas como cataplejía, parálisis del sueño y alucinaciones. Su fisiopatología y tratamiento, así como los síndromes que asocia, pueden interferir de forma severa con el acto anestésico. Metodología: Debido al déficit de evidencia de calidad que aporte un grado de recomendación alto en la anestesia de estos pacientes, se realizó una revisión narrativa de la literatura no sistemática en Pubmed. Como descriptores se usaron narcolepsy, anesthesia, surgery, perioperative, opioid, obstructive, apnea y sleep y se emplearon de forma individual y cruzándolos con conectores AND y OR. Conclusión: La recomendación de evitar opioides y la estabilidad de la anestesia libre de opioides (OFA), hace de esta última una opción para estos pacientes. Se describe un caso en el que se empleó de forma segura.(AU)

Introduction: Narcolepsy is the second most common sleep disorder. It is characterised by excessive daytime sleepiness together with other symptoms such as cataplexy, sleep paralysis, and hallucinations. The pathophysiology and treatment of this disease, together with its associated syndromes, can severely interfere with anaesthesia. Methodology: Due to the lack of quality evidence on which to base a high grade of recommendation for anaesthesia in these patients, we performed a non-systematic, narrative review of the literature in Pubmed. We used the descriptors narcolepsy, anesthesia, surgery, perioperative, opioid, obstructive, apnea and sleep both individually and with AND and OR connectors. Conclusion: The recommendation to avoid opioids and the stability of opioid-free anaesthesia (OFA) make this approach an option to consider in these patients. We describe a case in which it was used safely.(AU)

Narcolepsia y psicosis, a propósito de un caso / Narcolepsy and psychosis, a case report

La narcolepsia es trastorno neurológico infrecuente, incluido dentro del catálogo de enfermedades raras. Pese a la existencia de criterios diagnósticos precisos, se encuentra infradiagnosticada. Se caracteriza por una excesiva somnolencia diurna asociada a cataplejías, y en algunos casos puede aparecer alucinaciones hipnagógicas e hipnopómpicas, alucinaciones auditivas y/o ideación delirante. La presencia de síntomas psicóticos dificulta enormemente el diagnóstico diferencial (narcolepsia, esquizofrenia o la concomitancia de ambas). Además, el manejo terapéutico puede resultar complejo, ya que el tratamiento de una patología puede empeorar la otra. El siguiente caso clínico corresponde a una paciente con esta infrecuente comorbilidad entre ambos trastornos, en el que quedan patentes las importantes dificultades tanto en el diagnóstico diferencial como en el manejo terapéutico, una vez alcanzado el diagnóstico de certeza

Narcolepsy is an infrequent neurological disorder, included in the catalog of rare diseases. Despite the existence of precise diagnostic criteria, this entity remains underdiagnosed. It is characterized by excessive daytime sleepiness associated with cataplexy; in some cases, hypnagogic or hypnopompic hallucinations, auditory hallucinations, and/or delusional ideation may appear. The occurrence of psychotic symptoms makes differential diagnosis extremely difficult (narcolepsy, schizophrenia, or both). Furthermore, therapeutic management may be complex, since the treatment of one of the disorders may worsen the other. Here we describe the case of a patient with this rare comorbidity, which illustrates the major difficulties associated to both differential diagnosis and therapeutic management once a definitive diagnosis has been reached

SCIWORA, una lesión a conocer y a perseguir / SCIWORA, an injury to know and diagnose

No disponible

Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report

Niemann-Pick disease type C (NP-C) is a rare autosomal recessive neurovisceral lysosomal lipid storage disorder. The clinical manifestations of the disorder are variable. This report describes the case of a 27-month-old girl with NP-C whose condition had been misdiagnosed as spastic cerebral palsy (CP). She had spasticity, particularly at both ankles, and gait disturbance. Magnetic resonance imaging of the brain revealed findings suspicious of sequelae from a previous insult, such as periventricular leukomalacia, leading to the diagnosis of CP. However, she had a history of hepatosplenomegaly when she was a fetus and her motor development had deteriorated, with symptoms of vertical supranuclear gaze palsy, cataplexy, and ataxia developing gradually. Therefore, NP-C was considered and confirmed with a genetic study, which showed mutation of the NPC1 gene. Thus, if a child with CP-like symptoms presents with a deteriorating course and NP-C-specific symptoms, NP-C should be cautiously considered.

Alteraciones neuropsicológicas en la narcolepsia con cataplejía: una revisión / Neuropsychological alterations in narcolepsy with cataplexy: a review

Objetivo. Describir el estado actual de conocimiento sobre los principales déficits cognitivos que presentan los pacientes con narcolepsia con cataplejía o narcolepsia de tipo 1. Desarrollo. La mayoría de los estudios ha encontrado que las funciones cognitivas más afectadas son la atención (especialmente el mantenimiento de la atención o atención sostenida), la velocidad de procesamiento de la información y las funciones ejecutivas (en particular, la fluidez verbal y la resistencia a la interferencia de estímulos). Estos datos indican una dificultad para utilizar los recursos cognitivos de los que dispone el sujeto. Estas alteraciones son similares a las presentes en otras hipersomnias, aunque difieren en la intensidad. Por otra parte, la mayoría de los estudios destaca una elevada prevalencia de diferentes trastornos depresivos y ansiosos. Se ha sugerido que la predisposición a la ansiedad forma parte del fenotipo característico de estos pacientes. La ansiedad podría actuar como un factor desencadenante de la enfermedad y ser asimismo una consecuencia de la enfermedad. Conclusiones. Los déficits cognitivos en los pacientes con narcolepsia de tipo 1 se manifiestan en tareas de larga duración o monótonas y en tareas con alta demanda cognitiva, principalmente en tareas de atención sostenida. La presencia de sintomatología depresiva en estos pacientes, junto con la excesiva somnolencia diurna, parecen afectar a su rendimiento en las pruebas neuropsicológicas, y estar estrechamente relacionadas con la apreciación subjetiva de dificultades cognitivas (AU)

Aim. To describe the current state of the art about the main cognitive deficits that appear in patients affected with narcolepsy with cataplexy (NT1). Development. The majority of the studies have found that the most impaired cognitive functions are attention (especially maintenance of attention or sustained attention), speed of information processing and executive functions (in particular, verbal fluency and resistance to the stimuli interference). These data indicate the difficulty to use the available cognitive resources of the patient. These alterations are similar to those present in other hypersomnias, although they might differ in intensity. Moreover, most of the studies emphasize a high prevalence of different depressive and anxious disorders. It has been suggested that predisposition to anxiety could be part of the characteristic phenotype of these patients. Anxiety could act either as a trigger for the disease or a consequence of the disease. Conclusions. Cognitive deficits in patients with NT1 appear in long lasting and/or monotonous tasks and in high cognitive demanding tasks. The presence of depressive symptomatology, together with excessive daytime sleepiness in these patients could affect their performance in neuropsychological test, and it might be related to their subjective perception of the cognitive deficits (AU)

Parasomnia as an Initial Presentation of Narcolepsy

Narcolepsy is characterized by excessive daytime sleepiness, cataplexy, sleep paralysis and hypnagogic hallucinations. Only a few studies have focused on non-rapid eye movement (NREM) and REM parasomnias in narcolepsy. We report a narcolepsy without cataplexy patient presenting parasomnia as an initial symptom. A 18-year-old boy was admitted to hospital for abnormal behavior of sitting up during sleep over 2 years. He had a symptom of lethargy without cataplexy and subjective excessive daytime sleepiness, but his family found him often asleep during daytime. He underwent 3 times of polysomnography (PSG) including 1 multiple sleep latency test (MSLT) after the last PSG. The last PSG showed 1 episode of abrupt sitting. Three sleep REM onset period was observed in MSLT which was not detect in PSG. Parasomnia as an initial symptom of narcolepsy is a rare clinical entity. The MSLT may be useful in the evaluation of patients with parasomnia and unexplained hypersomnia.

Síndrome de apneas-hipopneas y narcolepsia. Descripción de una serie hospitalaria / Sleep apnoea-hypopnoea syndrome and narcolepsy. Description of a series of hospital patients

Introducción. Los trastornos del sueño son muy prevalentes en la población general; sin embargo, la asociación de síndrome de apneas-hipopneas (SAHS) en pacientes con narcolepsia se ha descrito en pocas ocasiones. Se revisan los trastornos del sueño encontrados en pacientes con narcolepsia, la prevalencia de SAHS asociado a estos pacientes y su respuesta a los tratamientos. Pacientes y métodos. Análisis descriptivo retrospectivo observacional de 25 pacientes, con diagnóstico de narcolepsia, atendidos en nuestro centro desde octubre de 2012 hasta diciembre de 2016. Resultados. De 470 pacientes valorados en la consulta monográfica de neurología, hemos diagnosticado a 25 pacientes con narcolepsia (5,31%); el 65% eran hombres, y el 35%, mujeres. Edad media en el momento del diagnóstico: 40 años. El 60% presenta otros trastornos del sueño asociados, el más frecuente es el SAHS (36%). La eficacia del tratamiento con presión aérea positiva continua nasal (CPAP) es del 66% en los pacientes con SAHS con indicación de CPAP. Conclusiones. El 60% de los pacientes con narcolepsia asocia un segundo trastorno del sueño (mayor que la incidencia de coexistencia en la población general, del 20-25% de los pacientes), y los descritos también son los más frecuentes en la población general (SAHS, síndrome de piernas inquietas, movimientos periódicos de las piernas). El 36% de los pacientes con narcolepsia asocia SAHS. De ellos, en el 78% se ha conseguido un control de eventos respiratorios adecuado; el 57% se ha controlado con CPAP y el 43% restante no ha precisado CPAP por corrección de eventos con otros métodos (AU)

Introduction. Sleep disorders are highly prevalent among the general population, although very few cases of sleep apnoea-hypopnoea syndrome (SAHS) have been reported in patients with narcolepsy. This study reviews the sleep disorders found in patients with narcolepsy, the prevalence of SAHS associated with these patients and their response to the different treatments. Patients and methods. We conducted an observation-based retrospective descriptive analysis of 25 patients diagnosed with narcolepsy, who were treated in our centre between October 2012 and December 2016. Results. Of 470 patients evaluated in the specialised neurology consultation unit, 25 patients were diagnosed with narcolepsy (5.31%); 65% were males and the remaining 35% were females; the mean age at the time of diagnosis was 40 years. 60% presented other associated sleep disorders, the most frequent being SAHS (36%). The efficacy rate of treatment with continuous positive airway pressure (CPAP) is 66% in patients with SAHS with an indication of CPAP. Conclusions. Altogether, 60% of patients with narcolepsy have a second associated sleep disorder (greater than the incidence of coexistence in the general population, of 20-25% of patients), and those reported are also the most frequent among the general population (SAHS, restless legs syndrome, periodic limb movement disorder). 36% of patients with narcolepsy have SAHS as an associated condition. Of these, 78% have reached a suitable degree of control over respiratory events; 57% have achieved control with CPAP, and the remaining 43% did not require CPAP for event correction with other methods (AU)