Clinical Manifestation of Juvenile and Pediatric HD Patients: A Retrospective Case Series.

Jannis Achenbach,Carsten Saft,Thomas Lücke,Charlotte Thiels

doi:10.3390/brainsci10060340

Abstract

Background: Studies on the clinical manifestation and course of disease in children suffering from Huntington’s disease (HD) are rare. Case reports of juvenile HD (onset ≤ 20 years) describe heterogeneous motoric and non-motoric symptoms, often accompanied with a delay in diagnosis. We aimed to describe this rare group of patients, especially with regard to socio-medical aspects and individual or common treatment strategies. In addition, we differentiated between juvenile and the recently defined pediatric HD population (onset < 18 years). Methods: Out of 2593 individual HD patients treated within the last 25 years in the Huntington Centre, North Rhine-Westphalia (NRW), 32 subjects were analyzed with an early onset younger than 21 years (1.23%, juvenile) and 18 of them younger than 18 years of age (0.69%, pediatric). Results: Beside a high degree of school problems, irritability or aggressive behavior (62.5% of pediatric and 31.2% of juvenile cases), serious problems concerning the social and family background were reported in 25% of the pediatric cohort. This includes an attempted rape and robbery at the age of 12, as problems caused by the affected children, but also alcohol-dependency in a two-year-old induced by a non-HD affected stepfather. A high degree of suicidal attempts and ideations (31.2% in pediatric and 33.3% in juvenile group) was reported, including drinking of solvents, swallowing razor blades or jumping from the fifth floor with following incomplete paraparesis. Beside dopaminergic drugs for treatment of bradykinesia, benzodiazepines and tetrabenazine for treatment of dystonia, cannabinoids, botulinum toxin injection and deep brain stimulation were used for the improvement of movement disorders, clozapine for the treatment of tremor, and dopa-induced hallucinations and zuclopenthixole for the treatment of severe aggressive behavior. Conclusions: Beside abnormalities in behavior from an early age due to HD pathology, children seem to have higher socio-medical problems related to additional burden caused by early affected parents, instable family backgrounds including drug abuse of a parent or multiple changes of partners. Treatment required individualized strategies in many cases.

Highlights

Huntington’s disease (HD) is an autosomal-dominant hereditary neurodegenerative progressive disorder usually with a most common onset at the age of 30–50 years [1,2]
Beside abnormalities in behavior from an early age due to HD pathology, children seem to have higher socio-medical problems related to additional burden caused by early affected parents, instable family backgrounds including drug abuse of a parent or multiple changes of partners
The cohort of juvenile HD (JHD) was described with varieties of motorand non-motor specific characteristics, demands were made for adapting common rating scales, usually to access disease-manifestation in adult HD, for use in children [6]

Summary

Introduction

Huntington’s disease (HD) is an autosomal-dominant hereditary neurodegenerative progressive disorder usually with a most common onset at the age of 30–50 years [1,2]. Recent research suggested the redefining of the term of younger HD patients and to use the term “pediatric” instead of juvenile Huntington’s disease for those younger than 18 years, since. The onset is thereby defined as the presence of unequivocal clinical motor signs (>99% confidence with a diagnostic confidence level (DCL) of four on the “Unified Huntington’s Disease Rating Scale” (UHDRS) [5]) caused by HD. The cohort of JHD was described with varieties of motorand non-motor specific characteristics, demands were made for adapting common rating scales, usually to access disease-manifestation in adult HD, for use in children [6]. Results: Beside a high degree of school problems, irritability or aggressive behavior (62.5% of pediatric and 31.2% of juvenile cases), serious problems concerning the social and family background were reported in 25% of the pediatric cohort

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