The prevalence of narcolepsy in Catalunya (Spain).

Previous studies have estimated an overall prevalence for narcolepsy between 15 and 70 cases per 100 000 inhabitants. We aimed to estimate the prevalence of narcolepsy in Catalunya (Catalonia), a north-east region of Spain (7 424 754 inhabitants), on 31 December 2014 by identifying all living subjects diagnosed with narcolepsy. First, we identified patients diagnosed by one of the 13 sleep, paediatric or neurological departments that perform tests regularly to diagnose narcolepsy. In a second phase, we searched for additional patients with narcolepsy in a clinical database of the primary health-care system. Clinical files were reviewed and narcolepsy diagnosis validated according to the Brighton Collaboration case definitions. Three hundred and twenty-five patients had a validated diagnosis of narcolepsy in the specialized centres (mean age: 44.6 years, range: 6-89; male: 60.3%; 85% with narcolepsy type 1), including 17.8% cases in Brighton, definition level 1, 62.5% in level 2, 15.4% in level 3 and 4.3% in level 4a. The overall prevalence for narcolepsy was 4.4; 3.7 for narcolepsy type 1 and 0.7 cases per 100 000 inhabitants for narcolepsy type 2. Fifty-six additional narcoleptic patients were identified in the primary health-care system, increasing the overall prevalence to 5.2 cases per 100 000 inhabitants. Prevalence rates for narcolepsy type 1 increased from childhood to adulthood, but in subjects aged more than 50 years there was a substantial drop in prevalence rates, suggesting the presence of a significant pool of undiagnosed cases in this population. Narcolepsy can be considered a rare neurological disorder in Catalunya.

Sleep study in Disruptive Mood Dysregulation Disorder and Bipolar children.

INTRODUCTION: Decreased need for sleep has been proposed as a core symptom of mania and it has been associated with the pathogenesis of Bipolar Disorder. The emergence of Disruptive Mood Dysregulation Disorder (DMDD) as a new diagnostic has been controversial and much has been speculated about its relationship with the bipolar spectrum. REM sleep fragmentation could be a biomarker of affective disorders and it would help us to differentiate them from other disorders. METHOD: Polysomnographic cross-sectional study of children with DMDD, bipolar disorder and Attention Deficit Hyperactivity Disorder (ADHD). All participants underwent a psychiatric semi-structured interview to obtain the diagnosis, comorbidities and primary sleep disorders. DMDD’s sample was performed following DSM5 criteria. GOALS: Perform polysomnography in a sample of bipolar, DMDD and ADHD children and compare their profiles to provide more evidence about the differences or similarities between bipolar disorder and DMDD. RESULTS: Bipolar group had the highest REM density values while ADHD had the lowest. REM density was not statiscally different between bipolar phenotypes. REM density was associated with antidepressant treatment, episodes of REM and their interaction. REM latency was associated with antipsychotic treatment and school performance. Bipolar patients had higher scores on the depression scale than DMDD and ADHD groups. CONCLUSIONS: No significant differences between the two compared affective disorders were found. However there were differences in REM density between bipolar and ADHD groups. REM sleep study could provide a new theoretical framework to better understand the pathogenesis of pediatric bipolar disorder.

Sleep alterations in pediatric bipolar disorder versus attention deficit disorder.

Bipolar disorder (BD) and attention deficit/hyperactivity disorder (ADHD) share numerous clinical features, which can make the differential diagnosis challenging. Studies conducted in adults suggest that patients with BD and ADHD have different sleep patterns. However, in pediatric populations, data on these potential differences are scant. The present preliminary study was conducted to identify potential differences in sleep alterations among youths diagnosed with BD or ADHD compared to healthy controls (HC). A total of 26 patients diagnosed with BD (n = 13) or ADHD (n = 13) were compared to 26 sex- and age-matched HC ([HCBD], n = 13, and [HCADHD], n = 13). All participants underwent polysomnography. The mean duration of stage N2 sleep was shorter in the BD group than in controls (HCBD). The BD group also had higher (non-significant) REM density (REMd) scores than controls while mean REMd scores were lower in the ADHD group versus controls. Compared to the ADHD group, the BD group presented a shorter N2 stage, a longer first REM sleep duration (R1), and greater REMd. According to our findings, these three variables-N2 stage, REMd, and R1-appear to differentiate patients with BD from those with ADHD and from HC.

[Protocol for neurophysiological studies of the pelvic floor to appraise anorectal dysfunction in patients with multiple sclerosis]. / Protocolo de estudios neurofisiológicos del suelo pélvico para la valoración de la disfunción anorrectal en pacientes con esclerosis múltiple.

INTRODUCTION: Patients with multiple sclerosis (MS) frequently develop anorectal dysfunction. The neuromuscular structures of the pelvic floor and the mechanisms of voluntary control over defecation can be compromised by the patchy lesions of MS or secondary to the patient's disability. The involvement of multiple factors limits understanding of the pathophysiology of anorectal dysfunction in MS. Specific neurophysiological tests assess the functionality of the elements of the central and peripheral nervous system involved in anorectal dysfunction. AIM: To propose a diagnostic protocol of standardised neurophysiological studies of the pelvic floor in order to characterise the pathophysiology of anorectal dysfunction in patients with MS. PATIENTS AND METHODS: The following studies were conducted on 16 patients with defined MS and who met criteria for constipation or faecal incontinence: external anal sphincter electromyography (EAS-EMG), somatosensory evoked potentials (SSEP) of the internal pudendal nerve, recording of ano-sacral reflexes and pudendal nerve neurography. RESULTS: The clinical and neurophysiological characteristics were heterogeneous. Nine patients presented constipation; two had isolated faecal incontinence; and five, a combination of both. Abolition or delay in the latency of the SSEP was the most frequent finding (n = 12), followed by the detection of paradoxical contraction (n = 11) and deficient recruitment (n = 8) in the EAS-EMG. CONCLUSIONS: The correct interpretation of each available neurophysiological test and the correlation of the findings as a whole enable us to understand the pathophysiology of anorectal dysfunction. The implementation of a protocol for neuro-physiological studies of the pelvic floor makes it possible to adjust the diagnosis by identifying the central or peripheral nervous lesion determining anorectal dysfunction in patients with MS.

TITLE: Protocolo de estudios neurofisiologicos del suelo pelvico para la valoracion de la disfuncion anorrectal en pacientes con esclerosis multiple.Introduccion. Los pacientes con esclerosis multiple (EM) frecuentemente desarrollan disfuncion anorrectal. Las estructuras neuromusculares del suelo pelvico y los mecanismos de control voluntario de la defecacion pueden afectarse por las lesiones parcheadas de la EM o secundarias a la discapacidad del paciente. La implicacion multifactorial limita la comprension de la fisiopatologia de la disfuncion anorrectal en la EM. Tests neurofisiologicos especificos valoran la funcionalidad de los elementos del sistema nervioso central y periferico implicados en las disfunciones anorrectales. Objetivo. Proponer un protocolo diagnostico de estudios neurofisiologicos estandarizados del suelo pelvico para caracterizar la fisiopatologia de la disfuncion anorrectal en los pacientes con EM. Pacientes y metodos. Se realizaron estudios de electromiografia de esfinter anal externo, potenciales evocados somatosensoriales desde el nervio pudendo interno, registro de reflejos sacros anales y neurografia del nervio pudendo a 16 pacientes con EM definida y criterios de estreñimiento o incontinencia fecal. Resultados. Las caracteristicas clinicas y neurofisiologicas fueron heterogeneas. Nueve pacientes presentaron estreñimiento; dos, incontinencia fecal aislada; y cinco, combinacion de ambos. La abolicion o el retraso de la latencia de los potenciales evocados somatosensoriales fue el hallazgo mas frecuente (n = 12), seguido de la deteccion de contraccion paradojica (n = 11) y de reclutamiento deficitario (n = 8) en la electromiografia de esfinter anal externo. Conclusiones. La correcta interpretacion de cada test neurofisiologico disponible y la correlacion de los hallazgos en conjunto permiten comprender la fisiopatologia de la disfuncion anorrectal. La protocolizacion de estudios neurofisiologicos del suelo pelvico permite ajustar el diagnostico al identificar la lesion nerviosa, central o periferica, determinante de disfuncion anorrectal en los pacientes con EM.

Estudio del sueño en niños con Trastorno de Disregulación Disruptivo del Estado de Ánimo y Bipolares / Sleep study in Disruptive Mood Dysregulation Disorder and Bipolar children

Introducción. La disminución de la necesidad de sueño ha sido propuesta como síntoma nuclear de manía y ha sido relacionada con la etiopatogenia del Trastorno Bipolar. La irrupción del Trastorno de Disregulación Disruptivo del Estado de Ánimo (TDDEA) como nueva categoría diagnóstica en el DSM5 ha sido controvertida y mucho se ha especulado acerca de su relación con el espectro bipolar. La fragmentación del sueño REM podría ser un biomarcador de los trastornos afectivos y ayudarnos a diferenciarlos de otros trastornos. Metodología. Estudio transversal polisomnográfico en niños con TDDEA, bipolaridad y con Trastorno por Déficit de Atención e Hiperactividad (TDAH). A todos los participantes se les realizó una entrevista psiquiátrica semi-estructurada para la obtención del diagnóstico, la detección de posibles comorbilidades y de los trastornos primarios del sueño. La obtención de la muestra TDDEA se realizó siguiendo los criterios recomendados por el DSM5. Objetivos. Realizar un estudio polisomnográfico en una muestra de niños TDDEA, Trastorno Bipolar Pediátrico (TBP) y TDAH y comparar sus perfiles, para aportar mayor evidencia acerca de las diferencias o semejanzas entre el TBP y el TDDEA. Resultados. El grupo bipolar presentó los valores más altos de densidad REM mientras que el grupo TDAH presentó los más bajos. La densidad REM no presentó diferencias estadísticamente significativas entre los distintos fenotipos bipolares. La densidad REM se asoció con el tratamiento antidepresivo, los episodios de REM y su interacción. La latencia REM se asoció con el tratamiento antipsicótico y el rendimiento escolar. Los pacientes bipolares presentaron mayores puntuaciones en la escala de depresión que los grupos TDDEA y TDAH. Conclusiones. No se encontraron diferencias significativas entre los dos trastornos afectivos comparados aunque sí se hallaron diferencias en la densidad REM entre los grupos bipolar y TDAH. El estudio del sueño REM podría proporcionar un nuevo marco teórico para comprender mejor la etiopatogenia del trastorno bipolar pediátrico

Introduction. Decreased need for sleep has been proposed as a core symptom of mania and it has been associated with the pathogenesis of Bipolar Disorder. The emergence of Disruptive Mood Dysregulation Disorder (DMDD) as a new diagnostic has been controversial and much has been speculated about its relationship with the bipolar spectrum. REM sleep fragmentation could be a biomarker of affective disorders and it would help us to differentiate them from other disorders. Method. Polysomnographic cross-sectional study of children with DMDD, bipolar disorder and Attention Deficit Hyperactivity Disorder (ADHD). All participants underwent a psychiatric semi-structured interview to obtain the diagnosis, comorbidities and primary sleep disorders. DMDD’s sample was performed following DSM5 criteria. Goals. Perform polysomnography in a sample of bipolar, DMDD and ADHD children and compare their profiles to provide more evidence about the differences or similarities between bipolar disorder and DMDD. Results. Bipolar group had the highest REM density values while ADHD had the lowest. REM density was not statiscally different between bipolar phenotypes. REM density was associated with antidepressant treatment, episodes of REM and their interaction. REM latency was associated with antipsychotic treatment and school performance. Bipolar patients had higher scores on the depression scale than DMDD and ADHD groups. Conclusions. No significant differences between the two compared affective disorders were found. However there were differences in REM density between bipolar and ADHD groups. REM sleep study could provide a new theoretical framework to better understand the pathogenesis of pediatric bipolar disorder

Protocolo de estudios neurofisiológicos del suelo pélvico para la valoración de la disfunción anorrectal en pacientes con esclerosis múltiple / Protocol for neurophysiological studies of the pelvic floor to appraise anorectal dysfunction in patients with multiple sclerosis

Introducción. Los pacientes con esclerosis múltiple (EM) frecuentemente desarrollan disfunción anorrectal. Las estructuras neuromusculares del suelo pélvico y los mecanismos de control voluntario de la defecación pueden afectarse por las lesiones parcheadas de la EM o secundarias a la discapacidad del paciente. La implicación multifactorial limita la comprensión de la fisiopatología de la disfunción anorrectal en la EM. Tests neurofisiológicos específicos valoran la funcionalidad de los elementos del sistema nervioso central y periférico implicados en las disfunciones anorrectales. Objetivo. Proponer un protocolo diagnóstico de estudios neurofisiológicos estandarizados del suelo pélvico para caracterizar la fisiopatología de la disfunción anorrectal en los pacientes con EM. Pacientes y métodos. Se realizaron estudios de electromiografía de esfínter anal externo, potenciales evocados somatosensoriales desde el nervio pudendo interno, registro de reflejos sacros anales y neurografía del nervio pudendo a 16 pacientes con EM definida y criterios de estreñimiento o incontinencia fecal. Resultados. Las características clínicas y neurofisiológicas fueron heterogéneas. Nueve pacientes presentaron estreñimiento; dos, incontinencia fecal aislada; y cinco, combinación de ambos. La abolición o el retraso de la latencia de los potenciales evocados somatosensoriales fue el hallazgo más frecuente (n = 12), seguido de la detección de contracción paradójica (n = 11) y de reclutamiento deficitario (n = 8) en la electromiografía de esfínter anal externo. Conclusiones. La correcta interpretación de cada test neurofisiológico disponible y la correlación de los hallazgos en conjunto permiten comprender la fisiopatología de la disfunción anorrectal. La protocolización de estudios neurofisiológicos del suelo pélvico permite ajustar el diagnóstico al identificar la lesión nerviosa, central o periférica, determinante de disfunción anorrectal en los pacientes con EM (AU)

Introduction. Patients with multiple sclerosis (MS) frequently develop anorectal dysfunction. The neuromuscular structures of the pelvic floor and the mechanisms of voluntary control over defecation can be compromised by the patchy lesions of MS or secondary to the patient’s disability. The involvement of multiple factors limits understanding of the pathophysiology of anorectal dysfunction in MS. Specific neurophysiological tests assess the functionality of the elements of the central and peripheral nervous system involved in anorectal dysfunction. Aim. To propose a diagnostic protocol of standardised neurophysiological studies of the pelvic floor in order to characterise the pathophysiology of anorectal dysfunction in patients with MS. Patients and methods. The following studies were conducted on 16 patients with defined MS and who met criteria for constipation or faecal incontinence: external anal sphincter electromyography (EAS-EMG), somatosensory evoked potentials (SSEP) of the internal pudendal nerve, recording of ano-sacral reflexes and pudendal nerve neurography. Results. The clinical and neurophysiological characteristics were heterogeneous. Nine patients presented constipation; two had isolated faecal incontinence; and five, a combination of both. Abolition or delay in the latency of the SSEP was the most frequent finding (n = 12), followed by the detection of paradoxical contraction (n = 11) and deficient recruitment (n = 8) in the EAS-EMG. Conclusions. The correct interpretation of each available neurophysiological test and the correlation of the findings as a whole enable us to understand the pathophysiology of anorectal dysfunction. The implementation of a protocol for neurophysiological studies of the pelvic floor makes it possible to adjust the diagnosis by identifying the central or peripheral nervous lesion determining anorectal dysfunction in patients with MS (AU)