Objective: Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2-CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs are also described in patients with gain-of-function mutations in the CaV2.1 channel, for which acetazolamide therapy is suggested. Impairment in N-glycosylation of CaV2.1 promotes gain-of-function effects and may participate in cerebellar syndrome in PMM2-CDG. AZATAX was designed to establish whether acetazolamide is safe and improves cerebellar syndrome in PMM2-CDG. Methods: A clinical trial included PMM2-CDG patients, with a 6-month first-phase single acetazolamide therapy group, followed by a randomized 5-week withdrawal phase. Safety was assessed. The primary outcome measure was improvement in the International Cooperative Ataxia Rating Scale (ICARS). Other measures were the Nijmegen Pediatric CDG Rating Scale (NPCRS), a syllable repetition test (PATA test), and cognitive scores. Results: Twenty-four patients (mean age = 12.3 AE 4.5 years) were included, showing no serious adverse events. Thirteen patients required dose adjustment due to low bicarbonate or asthenia. There were improvements on ICARS (34.9 AE 23.2 vs 40.7 AE 24.8, effect size = 1.48, 95% confidence interval [CI] = 4.0-7.6, p < 0.001), detected at 6 weeks in 18 patients among the 20 responders, on NPCRS (95% CI = 0.3-1.6, p = 0.013) and on the PATA test (95% CI = 0.5-3.0, p = 0.006). Acetazolamide improved prothrombin time, factor X, and antithrombin. Clinical severity, epilepsy, and lipodystrophy predicted greater response. The randomized withdrawal phase showed ICARS worsening in the withdrawal group (effect size = 1.46, 95% CI = 2.65-7.52, p = 0.001). Interpretation: AZATAX is the first clinical trial of PMM2-CDG. Acetazolamide is well tolerated and effective for motor cerebellar syndrome. Its ability to prevent SLEs and its long-term effects on kidney function should be addressed in future studies. ANN NEUROL 2019;85:740-751 View this article online at wileyonlinelibrary.com.

De los diferentes tests y escalas de valoración exponemos más detalladamente el test de screening Haizea-Llevant por ser aplicable a niños de 0 a 5 años y porque permite comprobar el desarrollo en las áreas cognitiva, social y motriz, de forma sencilla y rápida.Palabras clave. Desarrollo psicomotor. Tests de screening. ABSTRACTThe evaluation of psychomotor development is one of the basic activities of everyday paediatric practice, since it helps us not only to determine if the child shows some alteration but also to confirm that the child is healthy. It is thus essential to be able to carry out a suitable evaluation, given that an alteration in this might be the only expression of a disorder of the nervous system. Early detection of any dysfunction contributes to a possible early treatment and to minimising the appearance of sequels.A description is given of the normal development of the child up until 2 years, and an analysis is made of the areas of development, variants of normality and the warning signals classified chronologically.From amongst the different tests and appraisment scales, we give the most detailed exposition of the Hizea-Llevant test, since it is applicable to children between 0 and 5 years old, and because it makes it possible to check development in the cognitive, social and motor areas in a simple and rapid way.

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The annual incidence rate of child epilepsy in Navarre shows a similar rate as described for other western countries, with the highest incidence rate during the first year of life, diminishing gradually until adolescence. Published data concerning relative frequency of epilepsy and epileptic syndromes are quite discordant. The difficulties in establishing a syndromic diagnosis require the application of uniform criteria in order to obtain valid and comparable epidemiological information.

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