Cognitive functions in pediatric multiple sclerosis: 2-years follow-up.

Objective: To assess the neuropsychological status of pediatric multiple sclerosis (MS) patients and its relationship with clinical variables in a longitudinal study.Methods: Patients with MS (n = 46) and age- and gender-matched healthy control subjects (HCs, n = 53) were given tests of non-verbal reasoning, attention/concentration, visuospatial judgement and verbal fluency at baseline visit and after 2 years of follow-up. Cognitive impairment was defined as a failure on at least three of the four tests. Patients were grouped according to the age of disease onset (≤12 years as group 1 and > 12 years as group 2).Results: Cognitive impairment was detected in 22 of 46 patients at follow-up (47.8%). Patients with cognitive worsening had higher EDSS scores at follow-up compared to cognitively improved/stable group (0.68 ± 1.16 vs 0.04 ± 0.2, p = 0.01). The most affected domains were attention/concentration and non-verbal reasoning. Comparison between baseline and follow-up tests showed impairment in non-verbal reasoning over time in group 1 patients while other functions improved over time in patient and control groups as expected.Conclusion: Pediatric MS is likely to affect patients' cognition concurrently with their disability levels. This effect is significant in the non-verbal reasoning area in patients with disease onset before age 12 years. A practical method assessing this function should be part of these patients' regular follow-up for optimal treatment, prevention and rehabilitation.

Childhood hereditary ataxias: experience from a tertiary referral university hospital in Turkey.

Hereditary ataxias are a group of genetic disorders that are progressive and heterogeneous. The purpose of this study was to develop a practical and time-efficient approach to diagnosing childhood hereditary ataxias by analyzing characteristics and final diagnosis at a tertiary referral clinic for pediatric neurology. 196 patients admitted to the pediatric neurology department were included. The medical records were examined for demographic features, neurological, laboratory, electrophysiological, cranial imaging, and pathological findings, and for genetic studies. Patients were divided into two groups based on whether a final diagnosis was made. The undiagnosed and diagnosed groups consisted of 157 (81.1%) and 39 (19.9%) patients, respectively. The two groups differed in terms of levels of history of consanguineous marriage and mental and motor development before diagnosis, absence of deep tendon reflexes, and the presence of polyneuropathic changes detected by electromyelography (EMG), abnormal visual evoked potentials (VEPs), electroretinography (ERG), and muscle biopsy. To the best of our knowledge, this is the first study involving a large spectrum of diseases related to autosomal recessive ataxias in childhood in Turkey. One out of five patients with hereditary childhood ataxias can be diagnosed with clinical and laboratory and electrodiagnostic examination, especially with the help of imaging facilities, while genetic analysis is not possible for every child. Cranial magnetic resonance imaging followed by EMG provides the most important clues for the diagnosis of hereditary childhood ataxias.