ABSTRACT
The clinical data of a child with intellectual disability, macrocephaly and seizures associated with de novo variants in the PAK1 gene who was treated in the Department of Pediatrics, Peking University First Hospital in March 2022 were retrospectively analyzed.Meanwhile, literature review was performed to analyze the pathogenicity and mutation characteristics of the PAK1 gene.A boy with 4 years and 8 months old presented clinical manifestations of intellectual disability dominated by speech impairment and recurrent epilepsy.The patient had special facial features, including large head circumference, long face and low nose beam.Video electroencephalogram showed slow waves in the bilateral anterior head regions, and sharp wave, spike-slow complex waves and sharp-slow complex waves in the left hemisphere.Head magnetic resonance imaging revealed enlargement of the bilateral cerebral gyri, cerebellum and brainstem, thickening of cortex and corpus callosum, and enrichment of white matter.A de novo heterozygous mutation c. 361C>A(p.Pro121Thr ) was found in exon 4 of PAK1 (NM_001128620). This article for the first time reported a case of intellectual disability, macrocephaly and seizures caused by the de novo variants in the PAK1 gene in China.The pathogenic gene in this family was identified, which provided the possibility for accurate genetic counseling.
ABSTRACT
Objective To explore the effects of mirror therapy on the lower-limb muscles of hemiplegic stroke survivors. Methods Sixty-two hemiplegic stroke survivors were divided by stratified random grouping into a mirror group and a control group, each of 31. Both groups accepted routine rehabilitation training, while the mirror group was additionally provided with mirror therapy to train the non-paretic limb for 30 min per day, 5 days a week, lasting 4 weeks. Before and after the 4 weeks of training, integrated electromyography was performed and the maximum voluntary contraction force (MVC) of the tibialis anterior, rectus femoris and biceps femoris of the paretic limb were recorded and compared. Results Compared with before the training, the average root mean square values of the electromyographs and the average MVCs of all three muscles had improved significantly in both groups after training. Compared with the control group, the improvements were significantly greater in the mirror group. Conclusion Mirror therapy can promote the activation and synchronization of motor units, as well as increase the number discharging and the total discharge, promoting the recovery of muscle strength.