Judit Málly

Simultaneously performing cognitive and motor tasks after a stroke interfered with each other. Considering the competing deficits of cognition and motor paresis, we aimed here to assess the overall functional impairments of patients after stroke injury. A range of dual-task (DT) assessments was made on 63 post-stroke patients (PS) and 49 healthy age-matched controls. Patients with paresis (P) and without paresis (NP) were compared with controls before and after DT training. Differences between the NP patients and controls confirmed the cognitive decline, while the comparison between the NP and P patients strengthened the motor damage in P patients. The elderly patients performed worse. According to the ArtANOVA analysis, age was more important than paresis in DT performance. Short-term training modified the test results, especially in P patients. In conclusion, paresis and older age significantly worsen the outcomes of the cognitive dual-task tests. The age-dependent results may reflect cognitive decline, especially in NP patients. Consequently, the dual-task test results may represent global cognitive deterioration after stroke. Short-term dual-task training improves dual-task performance, especially in the P groups.

Simultaneously performed cognitive and motor tasks after stroke interfered with each other. Considering the competing deficits of cognition and motor paresis we aim to assess overall functional impairments of patients after stroke injury. A range of dual-task (DT) assessments were made on 63 post-stroke patients (PS) and 49 healthy age-matched controls. Patients with paresis (P) and without paresis (NP) were compared with controls before and after DT training. Difference between the NP patients and controls confirmed the cognitive decline, while compared to the NP patients the motor damage was strengthened in P patients. Older cohort performed worse. According to the ArtAnova analysis, age was more important in DT performance than paresis. Short-term training modified the test results, especially in P patients. Paresis and higher age significantly worsen outcomes of the cognitive-dual task tests. Age-dependent results may reflect cognitive decline, especially in NP patients. Consequently, dual-task test results may represent global cognitive deterioration after stroke. Short-term dual task training improves dual task performances especially in the P groups. Trial registration https://www.isrctn.com/ISRCTN12362945 14/02/2023.

Neurodevelopmental disorders (NDDs) represent a heterogeneous group of diseases with a variety of clinical presentations related to different genetic, epigenetic, and environmental etiologies. Numerous pathogenic variants have been identified by comprehensive genetic approaches such as next-generation sequencing and chromosomal microarray analyses. This study included eleven pediatric patients with NDDs who were referred to our Molecular Medicine (MM) unit for further diagnostic workup. Whole exome sequencing (WES) was performed, and data were analyzed as part of a contracted service with the National Genomic Center and iBioScience LTD. Likely pathogenic single nucleotide variants in genes DDX3X c.869C>A, p.S290* and CNOT1 c.920delG, p.G307Afs*32 in two patients, and pathogenic copy number variants in the 16p11.2 (16:29,690,418-30,200,285)x3 and 16p12.1-p11.2 (16:27,078,317-29,001,333)x3 regions in a third patient with NDDs were identified. In a fourth patient, the c.6839A>G, p.Gln2280Arg variant of uncertain significance was found in the NIPBL gene. Altogether, our study has revealed four novel variants in genes previously linked to NDDs. Identification of genetic causes of NDDs not only promotes establishing a more precise diagnosis and improves our understanding of disease pathogenesis but may also provide better means for developing preventive measures for the recurrence of this serious condition.

The reaction times of patients with Parkinson’s disease (PD) in tests of simultaneous dual-task accuracy are dependent on the subjects’ cognitive ability. We now report that one week training on dual-task tests improved cognitive function. Forty-six PD patients were compared with 47 age matched healthy controls and 26 patients were followed for one year. Five dual-task tests consisting of a primary cognitive task to be performed simultaneously with a secondary motor task were repeated for five consecutive days. Testing was repeated after 6 and 12 months. Participants’ reaction times, including Hits and Misses, were quantified. Initial tests indicated slower reaction times in patients compared to controls, with fewer Hits and more Misses, especially in PD patients over 65 years of age. Training by daily repeated dual-task tests improved performance within 3 days (p < 0. 01 or p < 0.001), with no deterioration after 6 months. We conclude that dual-tasks are objective and sensitive tests for detecting early cognitive difficulties in PD, with improvements in both by repeated exposure to testing. A few days of testing produced cognitive improvement lasting many months. It is recommended that the use of simultaneous, dual-task testing is used to produce long-lasting improvement of cognitive function in PD patients.

Diagnostic transcranial magnetic stimulation (TMS) is a valuable neurophysiological technique. The use of TMS has fundamentally changed the therapy and diagnosis of nervous diseases, introducing the possibility of direct assessment of conduction along the motor pathway in the central region, neuroplasticity, the ratio of central inhibition and excitation, and the effect on neuroplasticity and neurogenesis. The technique is safe, has a low cost and there is no need to purchase expensive consumables, it is applicable for a wide range of diseases in both adult and pediatric practice. The issues of the TMS use in CVA, depression, cerebral palsy and neurodegenerative diseases (amyotrophic lateral sclerosis, parkinsonism) have been studied to the greatest extent. When carrying out TMS in children, it should be borne in mind that signs of incomplete myelination of the motor pathways, which are normally observed, may look like pathological changes (demyelination or axonal disorders). The basic principles of TMS in both adults and children have been established and known, and the age norms have been determined, which makes it possible to widely implement this technique in applied neurophysiological practice. In the rehabilitation process, TMS can be used as a tool for personalizing and monitoring the effectiveness of rehabilitation treatment.