Paediatric Huntington's disease: interview to Ferdinando Squitieri

interview to ferdinando Squitieri

Huntington's disease can rarely begin in childhood. In these cases, its  clinical manifestations are different and the disease has a more rapid and aggressive course than the adult form. The publication Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis by Ferdinando Squitieri in The Lancet Neurology journal has helped to correctly identify and name the Pediatric form of Huntington's disease as a form with its own and peculiar biological and clinical characteristics. The previous, conventional, definition of 'juvenile Huntington' was based on the mere distinction of individuals who develop the disease 'early' from others who develop it 'late' on the basis of a mere clinical concept. Today, we can instead state that there are patients with 'early-onset Huntington' with 'biological characteristics of pediatric disease' and those with 'early-onset Huntington's' with 'biological characteristics more similar to the adult form'. An appropriate terminology is the first fundamental step towards the involvement  of younger patients in clinical trials on scientific basis.

Two years after the aforementioned publication and on the occasion of the webinar promoted by ERN - RND (European Reference Network - Rare Neurological Diseases) we asked Professor Squitieri to answer some questions on the topic.

What are the main differences between the adult and pediatric forms of Huntington's disease?

The pediatric form is not associated with the common involuntary movements and it manifests itself with a delay in the ability to walk and speak. The pediatric form during its evolution presents different symptoms and it has a faster and disabling progression. It is also associated with a different evolution of the alterations of the brain structures. The details about this topic will be better explained during the webinar.

Does the knowledge of the HD pediatric form peculiarities change the research perspective

on Huntington's disease? if so, how?

The discovery of a pediatric form with specific alterations of the nervous system associated with mutations particularly extended in length compared to the adult form  opens up to new perspectives on the biological mechanisms of the disease in general. Studying such extreme conditions allows us to identify characteristics that, in the adult disease, risk to remain hidden.

how can the families involved help research?

By breaking down the wall of (understandable) fear that prevents researchers from reaching them and coming in contact with those realities that can help them to better understand the most painful form of Huntington disease, the pediatric one.

Researchers need to observe younger patients over time and also study their biological samples. The co-operation of their families, in this respect, is fundamental. Only in this way the possibility of a cure can open also to children. 

The topic of HD pediatric disease will be treated specifically during the webinar "A challenge in neurogenetics: Huntington disease in kids", part of the series of webinars promoted by European Reference Network for Rare Neurological Diseases (ERN-RND), Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN)

The webinar will be English; to participate, it is necessary to register at the following link.