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Early onset ataxia (EOA) and Early Onset Dystonia (EOD) are movement disorders developing in young people (age <25 per definition). These disorders result from dysfunctional networks involving the cerebellum and basal ganglia. As these structures are also important for cognition, cognitive deficits can be expected in EOA and EOD. EOA and EOD sometimes co-occur, but in those cases the predominant phenotype is determining. A pending question is whether predominantly EOA and EOD have different profiles of cognitive impairment. We investigated whether cognitive functions were impaired in patients with either predominant EOA or predominant EOD and whether cognitive profiles differed between both patient groups. The sample consisted of 26 EOA and 26 EOD patients with varying etiology but similar duration and severity of the disorder. Patient samples were compared to a group of 26 healthy controls, all matched on age and gender. All participants underwent neuropsychological testing for verbal intelligence, memory, working memory, attention/cognitive speed, executive functions, emotion recognition and language. EOA and EOD patients both performed significantly worse than healthy controls on tests of verbal intelligence, working memory and executive functions. Additionally, attention/cognitive speed and emotion recognition were impaired in the EOA group. Compared to EOD, EOA patients performed worse on attention/cognitive speed and verbal intelligence. Our results show overall similar profiles of cognitive deficits in both patient groups, but deficits were more pronounced in the patients with EOA. This suggests that more severe cognitive impairment is related to more severe cerebellar network dysfunction. • EOA and EOD patients score lower on included cognitive tests than healthy controls. • EOA patients have more pronounced cognitive deficits than EOD patients. • Our results suggest a shared neurological substrate in EOD and EOA. [ABSTRACT FROM AUTHOR]

Early Onset Dystonia (EOD) is thought to result from basal ganglia dysfunction, structures also involved in non-motor functions, like regulation of behavior, mood and anxiety. Problems in these domains have been found in proxy-reports but not yet in self-reports of EOD patients. The main questions are whether proxy-reports differ from those of patients and how problems relate to everyday social functioning. Subjective complaints about executive problems (BRIEF) and symptoms of depression and anxiety (CBCL) were obtained through a cross-sectional questionnaire study conducted on 45 EOD patients. Scores were in the normal range in patients and proxies. Proxy-rated behavior regulation was correlated with the estimated number of friends and quality of relations. Proxy-reported scores of depression correlated with the quality of relations and were higher than self-reports of adolescent/young adult patients. EOD patients and proxies do not seem to experience problematic regulation of behavior, mood and anxiety. Still, our study revealed two important aspects: (1) all measures were related to the estimated quality of relations with others, relating questionnaires to everyday social functioning; (2) proxies reported more symptoms of depression than patients. This may indicate overestimation by proxies or higher sensitivity of proxies to these symptoms, implying underestimation of problems by patients. [ABSTRACT FROM AUTHOR]

Objective: Preterm birth poses a risk to cognition during childhood. The resulting cognitive problems may persist into young adulthood. The early motor repertoire in infancy is predictive of neurocognitive development in childhood. Our present aim was to investigate whether it also predicts neurocognitive status in young adulthood. Method: We conducted an explorative observational follow-up study in 37 young adults born at a gestational age of less than 35 weeks and/or with a birth weight below 1200 g. Between 1992 and 1997, these individuals were videotaped up until 3 months' corrected age to assess the quality of their early motor repertoire according to Prechtl. The assessment includes general movements, fidgety movements (FMs), and a motor optimality score (MOS). In young adulthood, the following cognitive domains were assessed: memory, speed of information processing, language, attention, and executive function. Results: Participants in whom FMs were absent in infancy obtained lower scores on memory, speed of information processing, and attention than those with normal FMs. Participants with aberrant FMs, that is, absent or abnormal, obtained poorer scores on memory, speed of information processing speed, attention, and executive function compared to peers who had normal FMs. A higher MOS was associated with better executive function. Conclusions: The quality of the early motor repertoire is associated with performance in various cognitive domains in young adulthood. This knowledge may be applied to enable the timely recognition of preterm-born individuals at risk of cognitive dysfunctions. [ABSTRACT FROM AUTHOR]

Introduction: In adult patients with myoclonus dystonia (MD), cognitive deficits regarding information processing speed and executive functioning have been demonstrated, but it is unclear whether cognition is also affected in young MD patients. The present study investigates cognition in young MD patients and the role of an SGCE mutation.Methods: In this case control study 20 young MD patients (9 children (5.75-12.58 years) and 11 adolescents/young adults (13.5-25.42 years)) were included and compared to an age-, IQ- and gender-matched healthy control group (n = 40). Within the patient group, we compared patients with (n = 12) and without (n = 8) an SGCE mutation (SGCE+/-). All participants completed neuropsychological tests for memory, attention/processing speed, executive functioning, social cognition and language.Results: Overall, patients performed in the (low) average range, comparable to healthy controls. Only on a semantic fluency test, patients scored significantly lower. SGCE + patients had lower emotion recognition scores (a social cognition test) compared to SGCE-patients.Conclusion: We could not demonstrate cognitive deficits as found in adult MD patients in our younger group. Patients performed on the same level as healthy controls, with only a small difference in semantic fluency. We did not find executive deficits that were manifest in adult SGCE + patients, but we did find an association of an SGCE mutation and lower scores on a social cognition test. Similar to executive functioning, social cognition is a prefrontally regulated function, but had not been tested in adult MD. Hence, social cognition may precede executive problems in adulthood, suggesting growing into deficit. [ABSTRACT FROM AUTHOR]