Forty cases of acute childhood ataxia were retrospectively assessed for main etiologies and for factors that can be used in planning the most effective and cost-efficient management. The most common discharge diagnoses were acute cerebellar ataxia, ingestion, and Guillain-Barré syndrome, encompassing 80% of all cases. The remaining 20% included various isolated causes. Acute cerebellar ataxia was primarily seen in children less than 6 years of age who had preceding viral syndromes or varicella. Ingestions were also most frequent in children less than 6 years of age, but a second peak occurred in adolescents. History was suggestive of drug ingestion in 61.5% of cases, and in addition to ataxia, lethargy was an associated symptom. The drug screen was the most informative laboratory test, with 17 of 35 being positive. Lumbar punctures were positive in seven of 25, with pleocytosis in six and elevated protein in two. Of 26 computed tomographic scans and magnetic resonance imaging scans performed, only two were positive, one for cerebellar infarct and one for cerebral edema. Acute ataxia in childhood has multiple etiologies, but it is usually due to a benign, self-limited process. A thorough history, physical examination, and drug screen should be performed before other costly and invasive tests and before admission to the hospital. This approach may eliminate the need for hospitalization of some patients with postinfectious acute cerebellar ataxia and ingestion. Neuroimaging studies should be used judiciously in the evaluation of acute ataxia, considering their low yield.

BackgroundMinocycline, a member of the tetracycline family, has a low risk of adverse effects and an ability to improve behavioral performance in humans with cognitive disruption. We performed a single-arm open-label trial in which 25 children diagnosed with Angelman syndrome (AS) were administered minocycline to assess the safety and tolerability of minocycline in this patient population and determine the drug’s effect on the cognitive and behavioral manifestations of the disorder.MethodsParticipants, age 4-12 years old, were randomly selected from a pool of previously screened children for participation in this study. Each child received 3 milligrams of minocycline per kilogram of body weight per day for 8 weeks. Participants were assessed during 3 study visits: baseline, after 8-weeks of minocycline treatment and after an 8-week wash out period. The primary outcome measure was the Bayley Scales of Infant and Toddler Development 3rd Edition (BSID-III). Secondary outcome measures included the Clinical Global Impressions Scale (CGI), Vineland Adaptive Behavior Scales 2nd Edition (VABS-II), Preschool Language Scale 4th Edition (PLS-IV) and EEG scores. Observations were considered statistically significant if p < 0.05 using ANOVA and partial eta squared (η2) was calculated to show effect size. Multiple comparisons testing between time points were carried out using Dunnett’s post hoc testing.ResultsSignificant improvement in the mean raw scores of the BSID-III subdomains communication and fine motor ability as well as the subdomains auditory comprehension and total language ability of the PLS-IV when baseline scores were compared to scores after the washout period. Further, improvements were observed in the receptive communication subdomain of the VABS-II after treatment with minocycline. Finally, mean scores of the BSID-III self-direction subdomain and CGI scale score were significantly improved both after minocycline treatment and after the wash out period.ConclusionThe clinical and neuropsychological measures suggest minocycline was well tolerated and causes improvements in the adaptive behaviors of this sample of children with Angelman syndrome. While the optimal dosage and the effects of long-term use still need to be determined, these findings suggest further investigation into the effect minocycline has on patients with Angelman syndrome is warranted.Trial registrationNCT01531582 – clinicaltrials.gov

We report 2 young children who are examples of the consequences of premature testing for Huntington disease. Premature testing of a child or fetus carries complex medical and psychological issues to both the child and the family that need to be considered and explored more than in an adult with Huntington disease. We suggest that a child at risk for juvenile Huntington disease not be tested until symptoms are progressive and consistent with the disease and all other mimickers are excluded. When testing is indicated, a multidisciplinary approach is essential to educate the family about the risks and benefits of testing and improve their coping skills when the final diagnosis is made.