Vidéothèque

Vidéothèque sur la CLN2

Pour en savoir plus sur la CLN2, visionnez les vidéos suivantes qui abordent un large éventail de sujets, depuis les symptômes jusqu'à la prise en charge de la maladie.

La CLN2 : une course contre le temps

Dr Paul Gissen, MBChB, PhD, FRCPCH
Collège universitaire de Londres
Hôpital des enfants de Great Ormond Street
NHS Foundation Trust

Présentation de la nature prévisible de la CLN2 et moment d'apparition des différents symptômes au cours de la vie des enfants affectés.

Comprendre l'échelle d'évaluation clinique de la CLN2

Dr Paul Gissen, MBChB, PhD, FRCPCH
University College London
Great Ormond Street Hospital for Children
NHS Foundation Trust

An overview of the predictable nature of CLN2 disease and when symptoms develop throughout the lives of affected children.

Groupes de défense/associations de patients

Andrea West
Administratrice générale
Batten Disease Family Association, Royaume-Uni

Margie Frazier, PhD
Directrice générale
Batten Disease Support and Research Association, États-Unis

Entretien avec Margie et Andrea, 2 dirigeantes dynamiques qui se consacrent au soutien des familles d'enfants atteints de CLN2 au sein de leurs organisations respectives dédiées à la maladie de Batten.

The importance of seeing the early signs of CLN2 disease

Dr Angela Schulz, MD, PhD
Children’s Hospital
NCL Specialty Clinic
International Center of Lysosomal Storage Disorders
(ICLD)
University Medical Center Hamburg-Eppendorf
Hamburg, Germany

A discussion about the early signs of CLN2 disease (new-­onset, unprovoked seizures and language delay) and how earlier diagnosis may benefit the child and their family.

The use of electroencephalogram (EEG) with low-frequency (1-2 Hz) intermittent photic stimulation (IPS) to detect CLN2 disease

Dr Nicola Specchio, MD
Department of Neuroscience
Bambino Gesù Children’s Hospital, IRCCS
Rome, Italy

Discover the unique clinical implications that using EEG with low-frequency IPS has for children with CLN2 disease.

CLN2 disease management

Dr Angela Schulz, MD, PhD
Children’s Hospital
NCL Specialty Clinic
International Center of Lysosomal Storage Disorders
(ICLD)
University Medical Center Hamburg-­Eppendorf
Hamburg, Germany

Key aspects of disease management are covered in this video, including the multidisciplinary team approach, medication strategies, and the importance of physical therapy.

Patient advocacy

Margie Frazier, PhD
Executive Director
Batten Disease Support and Research Association USA

Andrea West
Chief Executive
Batten Disease Family Association UK

Meet Margie and Andrea—2 dynamic leaders who are dedicated to supporting the families of children with CLN2 disease through their respective Batten disease advocacy organizations.