Publications by authors named "Helen Santini"
Article Synopsis
- - Juvenile Huntington's disease (JHD) features early motor symptoms like speech difficulties, rigidity, and dystonia in childhood, with cognitive decline typically evident through declining school performance.
- - JHD can be misdiagnosed as autism spectrum disorder or ADHD due to overlapping behavioral symptoms, and specific JHD symptoms include epilepsy, ataxia, and faster disease progression compared to adult-onset forms.
- - Diagnosis relies on clinical assessment, family history, and DNA analysis, with no current treatment guidelines available; future advancements may include better diagnostic markers like qualitative MRI and serum neurofilament light.
Article Synopsis
- Huntington's disease (HD) is a hereditary neurodegenerative disorder marked by neuropsychiatric symptoms, a movement disorder (mainly chorea), and cognitive decline, diagnosed by detecting increased CAG repeat lengths in the huntingtin gene.
- While diagnosing HD is typically clear-cut, some patients present in atypical ways, complicating the identification of when an asymptomatic carrier develops the disease.
- Managing HD effectively requires specialized multidisciplinary clinics, especially for genetic testing, as current treatments focus on alleviating symptoms like chorea and behavioral issues, though evidence supporting these treatments is often limited.
The study reported here presents a detailed description of what it is like to parent a child with juvenile Huntington's disease in families across four European countries. Its primary aim was to develop and extend findings from a previous UK study. The study recruited parents from four European countries: Holland, Italy, Poland and Sweden,.
View Article and Find Full Text PDFBackground: The clinical presentation of Juvenile Huntington's Disease (JHD) can be very different from adult-onset HD with little evidence to guide symptomatic management.
Aim: To survey the current use of pharmacological treatments for JHD.
Methods: Patients were identified through the HD Association, Hospital Doctors and the European Huntington's Disease Network REGISTRY study.