A case of mental retardation caused by a frameshift variant of SYNGAP1 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with mental retardation.@*METHODS@#Whole exome sequencing was carried out for the child. Candidate variant was screened based on his clinical features and verified by Sanger sequencing.@*RESULTS@#The child was found to harbor a c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant in the SYNGAP1 gene. Bioinformatic analysis suggested it to be pathogenic. The same variant was not detected in either parent.@*CONCLUSION@#The c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant of the SYNGAP1 gene probably underlay the mental retardation in this child. Above finding has expanded the spectrum of SYNGAP1 gene variants and provided a basis for the diagnosis and treatment for this child.

Scalp acupuncture for epileptiform discharges of children with cerebral palsy / 中国针灸

<p><b>OBJECTIVE</b>To explore the effect of scalp acupuncture for children with cerebral palsy whose video-electroencephalogram(VEEG) showed epileptiform discharges.</p><p><b>METHODS</b>A total of 184 children with cerebral palsy whose VEEG showed epileptiform discharges or those combined with epilepsy were randomly assigned into a combination group (99 cases) and a rehabilitation group (85 cases). All the cases were treated with the original antiepileptic drugs. The conventional physical training and massage were applied in the rehabilitation group for 3 courses with 20 d at the interval, once a day, 5 times a week and 15 times as one course. Based on the treatment as the rehabilitation group, scalp acupuncture was used in the combination group for 3 courses with 15 d at the interval, once the other day and 10 times as one course. Shenting (GV 24), Benshen (GB 13), Sishencong (EX-HN 1) were selected as the main acupoints, combined with motor zone, foot motor-sensory area, balance zone,and temple-three-needle etc. Clinical onset and VEEG results were observed before and after treatment.</p><p><b>RESULTS</b>After treatment in the combination group, 27 cases improved; 47 cases had no effect; 25 cases aggravated. While in the rehabilitation group, 11 cases improved; 46 cases had no effect; 28 cases aggravated. There was no statistically significance between the two groups (>0.05). As for the cases with epilepsy onset in the combination group, 8 cases improved; 4 cases had no effect; 4 cases aggravated. In the rehabilitation group, 4 cases had no effect; 7 cases aggravated. The result in the combination group was better than that in the rehabilitation group (<0.05). As for the cases with epileptiform discharges in the combination group, 19 cases improved; 43 cases had no effect; 21 cases aggravated. In the rehabilitation group, 11 cases improved; 42 cases had no effect; 21 cases aggravated. There was no significance between the two groups (>0.05).</p><p><b>CONCLUSIONS</b>Scalp acupuncture therapy does not increase the risk of onset or epileptiform discharges in the children with cerebral palsy combined with epilepsy or epileptiform discharges. Scalp acupuncture combined with rehabilitation is better than simple rehabilitation for thosewith cerebral palsy and epilepsy onset.</p>

Clinical observation on acupuncture plus occupation therapy for fine motor functions in children with spastic cerebral palsy / 针灸推拿医学（英文版）

Objective: To observe the clinical effect of acupuncture plus occupation therapy for fine motor functions in children with spastic cerebral palsy. Methods:A total of 80 cerebral palsy kids with fine motor dysfunction were allocated into two groups by envelop, 40 cases in each group. Cases in the control group were treated with occupation therapy. Based on the therapy given to the control group, cases in the treatment group were supplemented with acupuncture at the points of the three yang meridians of hand. The treatment was done every other day and 10 times for a course. There was a 15-day interval between two courses, and 3 courses in total. The therapeutic efficacies were evaluated using Peabody developmental motor scale 2 (PDMS-2) and modified Ashworth scale (MAS) before and after treatment. Results:After treatment, the standard score for grasping (Grs), standard score for visual-motor integration (Vis), fine motor quotient (FMQ) and modified Ashworth scale (MAS) were significantly improved in both groups (P<0.05). The improvement in the treatment group was more obvious than that in the control group (P<0.01). Conclusion:Acupuncture plus occupation therapy can achieve better effect than occupation therapy alone in improving fine motor functions of upper limbs in cerebral palsy kids.

Clinical observation on Nie-pinching spine manipulation combined with point therapy for cerebral palsy in children with spleen deficiency / 针灸推拿医学（英文版）

Objective:To observe the clinical effect of Nie-pinching spine coupled with point application and injection for cerebral palsy (CP) in children with spleen deficiency. Methods:A total of 70 CP children with spleen deficiency were randomly allocated into a treatment group (n=35) and a control group (n=35). Children in the treatment group were treated with comprehensive rehabilitation training, Nie-pinching spine, point application and point injection, whereas children in the control group were treated with comprehensive rehabilitation training and oral administration of multi-enzyme tablets. One course of treatment made up of 20 d. There was a 20-day interval between two courses. The cases were treated for a total of 3 courses. Then the therapeutic efficacies were evaluated using scores of spleen-deficiency symptoms and gross motor function measure (GMFM). Results:After 3 courses of treatment, the total effective rates for spleen-deficiency symptoms and rehabilitation were 85.7% and 77.1% respectively in the treatment group, versus 51.4% and 57.1% respectively in the control group, showing statistical differences (bothP Conclusion:In addition to comprehensive rehabilitation training, Nie-pinching spine combined with point application and injection obtained better effects than oral administration of multi-enzyme tablets.

Effect of Integrated Traditional Chinese and Western Medicine on Persistent Vegetative State in Children: 7 Cases Report / 中国康复理论与实践

@# Objective To observe the effect of Integrated Traditional Chinese and Western Medicine on persistent vegetative state (PVS) in children. Methods 7 children with PVS were treated with Integrated Traditional Chinese and Western Medicine, and were analyzed retrospectively. Results 3 childer were effectual, 3 improved, 1 ineffective. The PVS improved significantly after the treatment. The ones with course less than 3 months, the neuroimage show atrophy, appeared more effective. Conclusion The integrative therapy is effective on PVS in the children. The prognosis may associate with the course of the disease and the pathology of the brain.

Clinical Observation on Treatment of Spastic Cerebral Palsy with Tuina plus Music Therapy / 针灸推拿医学（英文版）

Objective: To observe the effect oftuina plus music therapy on range of motion of ankle joints and muscle spasm of lower limbs in children with spastic cerebral palsy. Method:All of 286 cases that conformed to the diagnostic criteria of infantile cerebral palsy were treated with 7 types of tuina manipulations respectively to unblock the Governor Vessel, reinforce the kidney and strengthen the spleen, pinch along the spine, stimulate specific foot-reflex area and different spinal segments, accelerate recovery of muscle strength and increase joint range of motion, 25-30 rain each treatment, once or twice a day, 30 d constitute a course of treatment.After this, the efficacy on femoral medial adduction and dorsiflexion angle and composite spasticity score (CSS) was evaluated. Result: The statistical analysis showed significant differences in dorsiflexion and femoral medial adduction angle and CCS scores (P<0.01) after the treatments. Conclusion: Tuina plus music therapy can lubricate the joints, relax contraction of tendons, alleviate muscle spasm and improve scissors and toe-walking gaits, thereby benefiting the gross motor function of infants in sitting, kneeling, standing and walking.