Juvenile Huntington disease in Argentina

Gatto, Emilia; Parisi, Virginia; Etcheverry, José Luis; Sanguinetti, A; Cordi, Lorena; Binelli, Adrian; Persi, Gabriel; Squitieri, Ferdinando

doi:10.1590/0004-282x20150192

Cited by 13 publications

(14 citation statements)

References 24 publications

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“…This is in contrast with data from hospitalized adults with HD, in which pneumonia was the primary admitting diagnosis . Other primary manifestations of JHD, such as intellectual disability, stiffness, or gait disturbances, were not reported as common admitting diagnoses in our study. This discrepancy likely reflects a greater need for acute care associated with seizures, but it also may reflect coding preferences.…”

Section: Discussioncontrasting

confidence: 99%

“…Numerous studies have described seizures as a clinical manifestation of JHD . Our findings are consistent with this literature.…”

Section: Discussionsupporting

confidence: 93%

“…Numerous studies have described seizures as a clinical manifestation of JHD. 2,5,6,19 Our findings are consistent with this literature. Epilepsy, seizures, and convulsion-related diagnoses comprised almost 20% of all of admitting diagnoses and were listed as comorbidities in greater than 50% of JHD hospitalizations.…”

Section: Discussionmentioning

confidence: 51%

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Hospitalizations of Children with Huntington's Disease in the United States

Mendizabal

Thibault

et al. 2017

Movement Disord Clin Pract

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Background Juvenile Huntington's disease (JHD) is a childhood‐onset neurodegenerative disorder. Although it is caused by the same pathologic expansion of CGA repeats as adult‐onset Huntington's disease, JHD has distinct clinical features. Most clinical research in HD focuses in the adult‐onset disease; therefore, little is known about acute care outcomes for patients with JHD. Methods The Kids' Inpatient Database (KID) was used to examine hospitalizations of children with JHD and to determine the diagnoses and procedures associated with inpatient care for JHD. Regression models were built to examine acute care outcomes, including death, length of stay, and disposition at discharge in patients with JHD compared with patients in the general KID data. Results The proportion of JHD cases among hospitalized children was 1.23 per 100,000 KID inpatient stays. Seizures/convulsions (58.5%) and psychiatric conditions (26.1%) were the most common primary or secondary diagnoses among JHD patient hospitalizations. The most common procedure was percutaneous endoscopic gastrostomy tube placement (8.6%). Compared with hospitalizations of the general population, hospitalizations of patients with JHD had a lower odds of discharge to home (adjusted odds ratio [AOR], 0.23; 95% confidence interval [CI], 0.14–0.37) and an increased likelihood of death (AOR, 8.03; 95% CI, 2.98–21.60) or discharge to a short‐term care facility (AOR, 4.44; 95% CI, 2.59–7.61). A diagnosis of JHD was associated with increased length of stay (7.04 vs. 3.75 days; P < 0.01). Conclusions Children with JHD have unique acute care patterns. Future studies are needed to determine the extent to which coordinated care may impact inpatient and disposition needs.

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Section: Discussioncontrasting

confidence: 99%

“…Numerous studies have described seizures as a clinical manifestation of JHD . Our findings are consistent with this literature.…”

Section: Discussionsupporting

confidence: 93%

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Hospitalizations of Children with Huntington's Disease in the United States

Mendizabal

Thibault

et al. 2017

Movement Disord Clin Pract

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“…As in our patient, a long delay before the diagnosis is a common issue. 5,10 Epileptic seizures are part of the clinical picture and can occur at an early phase of the disease. 7,11,12 The most frequent seizure types are generalized tonic-clonic seizures followed by myoclonic and absence seizures.…”

Section: Discussionmentioning

confidence: 99%

Drug-Resistant Myoclonic Epilepsy Revealing Juvenile Huntington's Disease: A Case Report

2018

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Juvenile Huntington's disease (JHD) shares many general clinical features with the adult form. One important difference is that JHD patients experience more epileptic manifestations, sometimes difficult to control. We describe an atypical clinical picture of a genetically confirmed JHD patient diagnosed during evaluation for a progressive myoclonic epilepsy. A female patient with a family history of psychiatric disorders developed recurrent drug-resistant myoclonic seizures at the age of 6 years, followed by extrapyramidal symptoms (rigidity and dystonia). Cognitive impairment, akinetic rigidity syndrome, and dystonia were noticed at the age of 10 years. Epileptiform abnormalities were noted in ictal electroencephalography. Magnetic resonance imaging showed brain atrophy. Genetic testing for HD confirmed the diagnosis. JHD can initially manifest as myoclonic epilepsy. A DNA testing should be performed if clinical history is suggestive.

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“…Our findings are in line with Nopoulos' conclusions as the autism spectrum disorders may represent a condition associated with developmental delay [11] and we found autistic features in two of our four subjects. Other JHD cohorts from different populations showed onset symptoms, other than neurological features or movement disorders [12,13]. However, the missing longitudinal follow-ups, which may eventually highlight a motor onset at young age (e.g.…”

Section: Discussionmentioning

confidence: 99%