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Prevalencia, impacto y posibles causas de los síntomas gastrointestinales en pacientes con síndrome de Dravet y encefalopatías ligadas a KCNB1 y KCNQ2

Los pacientes con encefalopatías epilépticas del desarrollo (EEDs), como el síndrome de Dravet, suelen tener muchos síntomas comórbidos que pueden reducir su calidad de vida. Uno de los síntomas más angustiosos para las familias es el estreñimiento y otras formas de dismotilidad gastrointestinal. Hasta la fecha, no se han realizado estudios sistemáticos sobre la frecuencia o la gravedad de los síntomas gastrointestinales en los pacientes con EEDs.

Una encuesta reciente, diseñada por la Dra. Anne Berg en el Lurie Children’s Hospital de Chicago, se difundió entre los padres y madres de niños con EEDs ‒ incluidos los progenitores de pacientes con síndrome de Dravet‒. En esta encuesta, se preguntó a los padres si su hijo había sufrido recientemente síntomas gastrointestinales, con qué frecuencia se producían y si estos síntomas afectaban a la comodidad y/o al apetito de su hijo.

Los síntomas gastrointestinales se han relacionado con múltiples factores que suelen aparecer en la vida de muchos pacientes con síndrome de Dravet. Estos incluyen la movilidad limitada, la dieta cetogénica, la alimentación por sonda gástrica, el trastorno del espectro autista (TEA) y el uso de medicamentos antiepilépticos. Por lo tanto, también se pidió a los padres que proporcionaran información sobre el grado de movilidad de sus hijos, el uso de dietas terapéuticas o de la sonda gástrica, la actividad epiléptica reciente, las características o el diagnóstico de TEA y los medicamentos antiepilépticos actuales.

Los resultados de la encuesta mostraron que el 44% de los niños con síndrome de Dravet habían experimentado síntomas gastrointestinales en el último mes, y el 25% informó de síntomas diarios o semanales. Más del 75% de los pacientes con síndrome de Dravet con síntomas gastrointestinales experimentaron malestar, y algo menos de la mitad experimentaron alteraciones del apetito debido a los síntomas gastrointestinales. El equipo de investigación analizó además los datos para determinar si había algún factor notificado que estuviera significativamente relacionado con los síntomas gastrointestinales y que pudiera ayudar a explicar la alta prevalencia de estos problemas. En todas las cohortes de EED incluidas en el estudio, sólo se encontró que el uso de la dieta cetogénica y el uso de la sonda gástrica estaban significativamente asociados con los síntomas gastrointestinales. Dentro de la cohorte del síndrome de Dravet, específicamente, el uso del medicamento antiepiléptico estiripentol se relacionó significativamente con dichos síntomas. Además, las mujeres con síndrome de Dravet eran tres veces más propensas que los hombres a experimentar síntomas gastrointestinales. La edad del paciente, el grado de movilidad, la frecuencia de las crisis epilépticas o el TEA no se relacionaron con el hecho de que el niño presentara o no síntomas gastrointestinales.

Aunque las sondas de alimentación y la dieta cetogénica tenían la asociación esperada con el estreñimiento, no explicaban la elevada proporción general de niños con esta dolencia. Muchos canales iónicos activados por voltaje, incluido el Nav1.1 (la proteína codificada por el gen SCN1A), se expresan en el tracto gastrointestinal y son importantes para controlar la función intestinal normal. Podría ocurrir que las variantes de SCN1A que causan el síndrome de Dravet o que causan otras EEDs deterioren directamente la motilidad gastrointestinal, causando así estreñimiento en los pacientes afectados. El esclarecimiento del papel de la disfunción de los canales iónicos en los síntomas gastrointestinales de los pacientes con EED puede guiar los esfuerzos terapéuticos futuros para aliviar este síntoma común y a menudo angustioso.

Para saber más sobre este estudio, visite:
https://linkinghub.elsevier.com/retrieve/pii/S0022347621006168.

Este post ha sido escrito por Veronica Beck, estudiante de posgrado de la Universidad de Michigan, y adaptado por Elena Cardenal, Directora Científica de la Fundación Síndrome de Dravet.

Imagen: Veronica Beck, MS (derecha ) y Prof. Anne T. Berg, PhD (izquierda).

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¿Te has descargado ya tu Dorsal Solidario 2022?

TERMS & CONDITIONS

The European Dravet Syndrome Advanced Therapies (EDSAT) Meeting 2022 is organised by Dravet Syndrome Foundation Spain, whose registered office is located at Calle Doctor Fleming, 30, 28036 Madrid, Spain.

The conference shall take place at the Illustrious Official College of Physicians of Madrid, at Calle de Santa Isabel, 51, 28012 Madrid, Spain, on Friday 1st of April 2022. Attendance to this conference is free of charge, but mandatory for organisational reasons. Participants must register online at www.dravetconference.com. Upon registration, each participant will receive an electronic confirmation by email. On-site registration will not be be possible. If a participant has not received the official email registration confirmation within 3 days, they must contact the conference secretariat at research@dravetfoundation.eu.

The conference registration includes: Attendance to all sessions, oral and visual presentations, all coffee and lunch breaks, and conference documentation with all information about the event. The registration does not comprise travelling and accommodation costs or any other personal expenses.

Admittance to the workshop without registration cannot be granted.

Conference Attendance
Upon arrival at the Illustrious Official College of Physicians of Madrid the day of the event, all participants have to register at the onsite Conference Registration Desk. The desk will open on 1st of April at 8:30 a.m. Upon registration onsite, the conference team will provide participants with information about the event and a badge, which should be worn visibly at all times. The personalised badge authorises participants to attend all conference sessions, and lunch and coffee breaks.

Cancellation Policy
Dravet Syndrome Foundation Spain reserves the right to cancel any registration forthwith and without liability on its part in the event of any damage to, or destruction of the venue by fire, shortage of labour, strikes, industrial unrest, public health measures, or any other cause beyond the control of the Dravet Syndrome Foundation Spain, which shall prevent it from performing its obligations. In these circumstances, every effort will be made to find an alternative format/venue or propose a new date for the conference. Should the conference be cancelled for any reason, airfares, hotels, or other costs incurred by the participants are not reimbursed by the Dravet Syndrome Foundation Spain.

Any participant is allowed to cancel his/her registration but must notify this to the conference organisers by e-mail at research@dravetfoundation.eu within a minimum of 10 days
prior the event. Failure to attend the event without prior written notification
by email may incur a no-show fee, which shall cover individual organizational,
material and catering costs.

Name Change
All registrations are only valid for the respective person mentioned in the form. A registered participant unable to attend the conference may nominate (free of charge) a substitute participant by notifying the conference organisers by email at research@dravetfoundation.eu before 24th of March 2022. The procedure allows giving the last name, first name, and email address of the new participant.

Personal Data
Upon registration, the participant authorises Dravet Syndrome Foundation Spain to use their personal data stated above to inform the participant of any further conferences, events, or information concerning the conference and Dravet Syndrome Foundation Spain’s activities. The conference booklet online will only contain authors, titles, and affiliations of submitted abstracts, but no full abstract texts. The conference printed booklet will contain full abstract texts from all participants. Conference certificates will be sent to the participants as a PDF document upon request at research@dravetfoundation.eu. Only the name & affiliation will be stated in the certificate, not the email addresses of the participants.

Information is collected by an automated computer system that manages registrations. Security and confidentiality are guaranteed by state-of-the-art technical tools. However, Dravet Syndrome Foundation Spain declines any responsibility concerning data security transmitted through the internet.

Photography
The conference is held in public; therefore, we do not ban participants, exhibitors, partners and other companies from taking photographs of conference activities and participants, and share it via social media. By participating in the conference, you approve that general pictures will be taken and used for our Social Media output, our websites and other communication purposes. You hereby waive any right to oppose, and expressly authorise the organiser to make them available on the Internet or as it may seem fit. Author’s presentation slides shall not be photographed by any conference participant.

Disclaimer
The conference organiser cannot be held responsible for any loss, injury or damage to any property, whatever the cause may be. Should, for any reason outside the organiser’s control (e.g., political or economic circumstances or a case of ‘force majeure’), the venue or speakers change, or the event be cancelled, the organiser will endeavour to reschedule, but shall not be held responsible for any costs, damages or expenses incurred by the participants. If for any reason the organiser decides to make material changes to this conference, the organiser is not responsible for airfares, hotels or other costs incurred by the participants. The participant takes part in the conference, all tours, and trips at his own risk.

Copyright
The participant is allowed to use the conference documentation exclusively for his/her personal needs.

TERMS & CONDITIONS

The Dravet Syndrome Conference 2022 is organised by Dravet Syndrome Foundation Spain, whose registered office is located at Calle Doctor Fleming, 30, 28036 Madrid, Spain.

The conference shall take place at the Illustrious Official College of Physicians of Madrid, at Calle de Santa Isabel, 51, 28012 Madrid, Spain, on Thursday 31st of March 2022. Attendance to this conference is free of charge, but mandatory for organisational reasons. Participants must register online at www.dravetconference.com. Upon registration, each participant will receive an electronic confirmation by email. On-site registration will not be be possible. If a participant has not received the official email registration confirmation within 3 days, they must contact the conference secretariat at research@dravetfoundation.eu.

The conference registration includes: Attendance to all sessions, oral and visual presentations, all coffee and lunch breaks, and conference documentation with all information about the event. The registration does not include travel and accommodation costs or any other personal expenses.

Admittance to the conference without registration cannot be granted.

Conference Attendance
Upon arrival at the Illustrious Official College of Physicians of Madrid the day of the event, all participants have to register at the onsite Conference Registration Desk. The desk will open on 31st of March at 8:30 a.m. Upon registration onsite, the conference team will provide participants with information about the event and a badge, which should be worn visibly at all times. The personalised badge authorises participants to attend all conference sessions, and lunch and coffee breaks. 

Cancellation Policy
Dravet Syndrome Foundation Spain reserves the right to cancel any registration forthwith and without liability on its part in the event of any damage to, or destruction of the venue by fire, shortage of labour, strikes, industrial unrest, public health measures, or any other cause beyond the control of the Dravet Syndrome Foundation Spain, which shall prevent it from performing its obligations. In these circumstances, every effort will be made to find an alternative format/venue or propose a new date for the conference. Should the conference be cancelled for any reason, airfares, hotels, or other costs incurred by the participants are not reimbursed by the Dravet Syndrome Foundation Spain.

Any participant is allowed to cancel his/her registration but must notify this to the conference organisers by e-mail at research@dravetfoundation.eu within a minimum of 10 days prior the event. Failure to attend the event without prior written notification by email may incur a no-show fee, which shall cover individual organizational, material and catering costs.

Name Change
All registrations are only valid for the respective person mentioned in the form. A registered participant unable to attend the conference may nominate (free of charge) a substitute participant by notifying the conference organisers by email at research@dravetfoundation.eu before 24th of March 2022. The procedure allows giving the last name, first name, and email address of the new participant.

Personal Data
Upon registration, the participant authorises Dravet Syndrome Foundation Spain to use their personal data stated above to inform the participant of any further conferences, events, or information concerning the conference and Dravet Syndrome Foundation Spain’s activities. The conference booklet online will only contain authors, titles, and affiliations of submitted abstracts, but no full abstract texts. The conference printed booklet will contain full abstract texts from all participants. Conference certificates will be sent to the participants as a PDF document upon request at research@dravetfoundation.eu. Only the name & affiliation will be stated in the certificate, not the email addresses of the participants.

Information is collected by an automated computer system that manages registrations. Security and confidentiality are guaranteed by state-of-the-art technical tools. However, Dravet Syndrome Foundation Spain declines any responsibility concerning data security transmitted through the internet.

Photography
The conference is held in public; therefore, we do not ban participants, exhibitors, partners and other companies from taking photographs of conference activities and participants, and share it via social media. By participating in the conference, you approve that general pictures will be taken and used for our Social Media output, our websites and other communication purposes. You hereby waive any right to oppose, and expressly authorise the organiser to make them available on the Internet or as it may seem fit. Author’s presentation slides shall not be photographed by any conference participant. 

Disclaimer
The conference organiser cannot be held responsible for any loss, injury or damage to any property, whatever the cause may be. Should, for any reason outside the organiser’s control (e.g., political or economic circumstances or a case of ‘force majeure’), the venue or speakers change, or the event be cancelled, the organiser will endeavour to reschedule, but shall not be held responsible for any costs, damages or expenses incurred by the participants. If for any reason the organiser decides to make material changes to this conference, the organiser is not responsible for airfares, hotels or other costs incurred by the participants. The participant takes part in the conference, all tours, and trips at his own risk.

Copyright
The participant is allowed to use the conference documentation exclusively for his/her personal needs.