{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T15:43:51Z","timestamp":1787499831794,"version":"build-2736575974"},"reference-count":38,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2020,6,3]],"date-time":"2020-06-03T00:00:00Z","timestamp":1591142400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Background: Studies on the clinical manifestation and course of disease in children suffering from Huntington\u2019s disease (HD) are rare. Case reports of juvenile HD (onset \u2264 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 &lt; 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.<\/jats:p>","DOI":"10.3390\/brainsci10060340","type":"journal-article","created":{"date-parts":[[2020,6,4]],"date-time":"2020-06-04T04:36:09Z","timestamp":1591245369000},"page":"340","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Clinical Manifestation of Juvenile and Pediatric HD Patients: A Retrospective Case Series"],"prefix":"10.3390","volume":"10","author":[{"given":"Jannis","family":"Achenbach","sequence":"first","affiliation":[{"name":"Department of Neurology, Huntington Centre North Rhine-Westphalia, St. Josef-Hospital Bochum, Ruhr-University Bochum, 44791 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Thiels","sequence":"additional","affiliation":[{"name":"Department of Neuropaediatrics and Social Paediatrics, University Children\u2019s Hospital, Ruhr-University Bochum, 44791 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"L\u00fccke","sequence":"additional","affiliation":[{"name":"Department of Neuropaediatrics and Social Paediatrics, University Children\u2019s Hospital, Ruhr-University Bochum, 44791 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten","family":"Saft","sequence":"additional","affiliation":[{"name":"Department of Neurology, Huntington Centre North Rhine-Westphalia, St. Josef-Hospital Bochum, Ruhr-University Bochum, 44791 Bochum, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,6,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/S0140-6736(07)60111-1","article-title":"Huntington\u2019s disease","volume":"369","author":"Walker","year":"2007","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/1750-1172-5-40","article-title":"Huntington\u2019s disease: A clinical review","volume":"5","author":"Roos","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"267","DOI":"10.2217\/nmt.13.18","article-title":"Managing juvenile Huntington\u2019s disease","volume":"3","author":"Quarrell","year":"2013","journal-title":"Neurodegener. Dis. Manag."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1002\/mds.27640","article-title":"Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease?","volume":"34","author":"Quarrell","year":"2019","journal-title":"Mov. Disord."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1002\/mds.870110204","article-title":"Unified Huntington\u2019s disease rating scale: Reliability and consistency","volume":"11","author":"Kieburtz","year":"1996","journal-title":"Mov. Disord."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"171","DOI":"10.3233\/JHD-180339","article-title":"Clinical Presentation and Features of Juvenile-Onset Huntington\u2019s Disease: A Systematic Review","volume":"8","author":"Cronin","year":"2019","journal-title":"J. Huntingt. Dis."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"223","DOI":"10.2310\/7010.2006.00055","article-title":"Clinical characteristics of childhood-onset (juvenile) Huntington disease: Report of 12 patients and review of the literature","volume":"21","author":"Afifi","year":"2006","journal-title":"J. Child Neurol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1001\/archneur.64.6.813","article-title":"Psychiatric and Cognitive Difficulties as Indicators of Juvenile Huntington Disease Onset in 29 Patients","volume":"64","author":"Ribai","year":"2007","journal-title":"Arch. Neurol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"15005","DOI":"10.1038\/nrdp.2015.5","article-title":"Huntington disease","volume":"1","author":"Bates","year":"2015","journal-title":"Nat. Rev. Dis. Prim."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1590\/S0004-282X2006000100002","article-title":"Clinical presentation of juvenile Huntington disease","volume":"64","author":"Ruocco","year":"2006","journal-title":"Arq. NeuroPsiquiatr."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.parkreldis.2017.08.009","article-title":"Huntington disease care: From the past to the present, to the future","volume":"44","author":"Mestre","year":"2017","journal-title":"Park. Relat. Disord."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"931","DOI":"10.12740\/PP\/34496","article-title":"The Impact of Huntington Disease on Family Carers: A Literature Overview","volume":"49","author":"Domaradzki","year":"2015","journal-title":"Psychiatr. Polska"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1177\/089198879801100204","article-title":"Huntington disease: Clinical, genetic, and social aspects","volume":"11","author":"Nance","year":"1998","journal-title":"J. Geriatr. Psychiatry Neurol."},{"key":"ref_14","first-page":"55","article-title":"Ethical, social and legal issues in Huntington disease: The nurse\u2019s role","volume":"17","author":"Rohs","year":"1996","journal-title":"Axone"},{"key":"ref_15","first-page":"2438","article-title":"Toekomstige ontwikkelingen in het erfelijkheidsonderzoek II. Psychologische en maatschappelijke aspecten","volume":"141","author":"Galjaard","year":"1997","journal-title":"Ned Tijdschr Geneeskd"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1159\/000443738","article-title":"The Prevalence of Huntington\u2019s Disease","volume":"46","author":"Rawlins","year":"2016","journal-title":"Neuroepidemiology"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1002\/mds.25075","article-title":"The incidence and prevalence of Huntington\u2019s disease: A systematic review and meta-analysis","volume":"27","author":"Pringsheim","year":"2012","journal-title":"Mov. Disord."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.1136\/jnnp-2012-304636","article-title":"Prevalence of adult Huntington\u2019s disease in the UK based on diagnoses recorded in general practice records","volume":"84","author":"Evans","year":"2013","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Ohlmeier, C., Saum, K.-U., Galetzka, W., Beier, D., and Gothe, H. (2019). Epidemiology and health care utilization of patients suffering from Huntington\u2019s disease in Germany: Real world evidence based on German claims data. BMC Neurol., 19.","DOI":"10.1186\/s12883-019-1556-3"},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Hayden, M.R. (1981). Huntington\u2019s Chorea, Springer.","DOI":"10.1007\/978-1-4471-1308-9"},{"key":"ref_21","first-page":"235","article-title":"Juvenile Huntington disease","volume":"73","author":"Roos","year":"1986","journal-title":"Qual. Life Res."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1097\/j.pain.0000000000001472","article-title":"The prevalence and the burden of pain in patients with Huntington disease","volume":"160","author":"Sprenger","year":"2019","journal-title":"Pain"},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Quarrell, O., O\u2019Donovan, K.L., Bandmann, O., and Strong, M. (2012). The Prevalence of Juvenile Huntington\u2019s Disease: A Review of the Literature and Meta-Analysis. PLoS Curr., 4.","DOI":"10.1371\/4f8606b742ef3"},{"key":"ref_24","unstructured":"(2020, April 29). S2k-Leitlinie Chorea\/Morbus Huntington. Available online: www.dgn.org\/leitlinien."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2701","DOI":"10.2174\/138161206777698693","article-title":"Pharmacological management of Huntington\u2019s disease: An evidence-based review","volume":"12","author":"Bonelli","year":"2006","journal-title":"Curr. Pharm. Des."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1002\/mds.26331","article-title":"Therapeutic advances in Huntington\u2019s Disease","volume":"30","author":"Shannon","year":"2015","journal-title":"Mov. Disord."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1111\/j.1469-1809.2006.00335.x","article-title":"The Relationship Between CAG Repeat Length and Age of Onset Differs for Huntington\u2019s Disease Patients with Juvenile Onset or Adult Onset","volume":"71","author":"Andresen","year":"2006","journal-title":"Ann. Hum. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/S1474-4422(18)30294-1","article-title":"Biological and clinical manifestations of juvenile Huntington\u2019s disease: A retrospective analysis","volume":"17","author":"Fusilli","year":"2018","journal-title":"Lancet Neurol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1002\/mds.25422","article-title":"Better global and cognitive functioning in choreatic versus hypokinetic-rigid Huntington\u2019s disease","volume":"28","author":"Hart","year":"2013","journal-title":"Mov. Disord."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Oosterloo, M., Bijlsma, E.K., De Die-Smulders, C., and Roos, R.A. (2020). Diagnosing Juvenile Huntington\u2019s Disease: An Explorative Study among Caregivers of Affected Children. Brain Sci., 10.","DOI":"10.3390\/brainsci10030155"},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Saft, C., Lauter, T., Kraus, P.H., Przuntek, H., and E Andrich, J. (2006). Dose-dependent improvement of myoclonic hyperkinesia due to Valproic acid in eight Huntington\u2019s Disease patients: A case series. BMC Neurol., 6.","DOI":"10.1186\/1471-2377-6-11"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"167","DOI":"10.3233\/JHD-170283","article-title":"Cannabinoids for Treatment of Dystonia in Huntington\u2019s Disease","volume":"7","author":"Saft","year":"2018","journal-title":"J. Huntingt. Dis."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"180","DOI":"10.3389\/fneur.2015.00177","article-title":"A Prospective Pilot Trial for Pallidal Deep Brain Stimulation in Huntington\u2019s Disease","volume":"6","author":"Wojtecki","year":"2015","journal-title":"Front. Neurol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1670","DOI":"10.1001\/jama.2014.3654","article-title":"Pharmacological Treatment of Parkinson Disease","volume":"311","author":"Connolly","year":"2014","journal-title":"JAMA"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1212\/WNL.57.4.708","article-title":"Juvenile Huntington\u2019s disease presenting as progressive myoclonic epilepsy","volume":"57","author":"Gambardella","year":"2001","journal-title":"Neurology"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1002\/mds.25237","article-title":"Seizures in juvenile Huntington\u2019s disease: Frequency and characterization in a multicenter cohort","volume":"27","author":"Cloud","year":"2012","journal-title":"Mov. Disord."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"493","DOI":"10.3233\/JHD-190351","article-title":"Obsessive-Compulsive Symptoms are Less Common in Huntington\u2019s Disease than Reported Earlier","volume":"8","author":"Hoffmann","year":"2019","journal-title":"J. Huntingt. Dis."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1089\/cap.2014.0066","article-title":"Treatment of Aggressive Behavior Problems in Boys with Intellectual Disabilities Using Zuclopenthixol","volume":"24","author":"Jung","year":"2014","journal-title":"J. Child Adolesc. Psychopharmacol."}],"container-title":["Brain Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2076-3425\/10\/6\/340\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T09:35:13Z","timestamp":1760175313000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2076-3425\/10\/6\/340"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,3]]},"references-count":38,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2020,6]]}},"alternative-id":["brainsci10060340"],"URL":"https:\/\/doi.org\/10.3390\/brainsci10060340","relation":{},"ISSN":["2076-3425"],"issn-type":[{"value":"2076-3425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,3]]}}}