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.

Effects of scalp acupuncture on brain injury in premature infants with different months of age / 中国针灸

<p><b>OBJECTIVE</b>To explore the clinical efficacy differences of scalp acupuncture on brain injury in premature infants with different months of age.</p><p><b>METHODS</b>According to the corrected months of age, 90 cases of premature infants with brain injury were divided into a group A (3 through 6 corrected months of age), a group B (7 through 9 corrected months of age) and group C (10 through 12 corrected months of age), 30 patients in each one. Based on the conventional early intervention, the infants in the group A were treated with scalp acupuncture at , motor area; the infants in the group B were treated with scalp acupuncture at , motor area and foot motor sensory area; the infants in the group C were treated with scalp acupuncture at , motor area, foot motor sensory area and balance area. All the treatment was given once every other day, and totally 30 treatments were given. The Alberta infant motor scale (AIMS), development quotient (DQ) of each function indexes in Gesell developmental scale (GDS) were observed before and after treatment; the clinical efficacy of each group was compared and the correlation between clinical efficacy and months of age was analyzed.</p><p><b>RESULTS</b>Compared before treatment, the total score of AIMS and DQ of each function indexes of GDS were all improved in the three groups after treatment (all <0.01). After treatment, the differences of total score of AIMS and DQ of each function indexes of GDS among the three groups were significant (<0.05, <0.01), and the results in the group A were higher than those in the group B and the group C (<0.05, <0.01). The total effective rate was 96.3% (26/27) in the group A, which was higher than 89.7% (26/29) in the group B and 83.3% (25/30) in the group C. The correlation analysis indicated less months of age was significantly corelated with better efficacy (<0.05).</p><p><b>CONCLUSION</b>Scalp acupuncture has superior improvement on the recovery of brain damage in premature infants, especially for those with 6 months of age or less.</p>

Clinical analysis of 15 cases with childhood chronic cerebellar ataxia / 中华实用儿科临床杂志

Objective To investigate the diagnosis of the diseases that presented with childhood chronic cerebellar ataxia.Method The clinical data of 15 children with chronic cerebellar ataxia were studied,including the clinical features,laboratory results and neuroimaging aspect.Results Of the 15 children with chronic cerebellar ataxia,3 cases had chronic progressive cerebellar ataxia diagnosed as ataxia telangiectasia,and neuroimaging finding that indicated mild to marked cerebellar atrophy.The others 12 cases had non-progressive cerebellar ataxia,2 cases of them had Joubert syndrome,characterized by delayed motor function and speech,lower limbs ataxia and cerebellar vermis hypoplasia; 10 cases had ataxic cerebral palsy with delayed motor skills,9 of them had mental retardation and verbal problem.Of the 10 children with ataxic cerebral palsy,7 cases had cerebellar hemispheric atrophy by computer tomography (CT) or MRI,while the other 3 cases had no positive finding in cerebellum by MRI,but 2 of whom were found reduced metabolism in cerebellar neuron during the test of positron emission tomography and CT.Comparson with the scores in the gross motor function measure (GMFM) and developmental quotient (DQ) of 5 domains (adaption,gross motor,fine motor,language and social development) in Gesell developmental Schedules before and after the rehabilitation approach:the totaI scores in GMFM after the treatment (56.42 ± 15.65) was significantly higher than that of before traatment (44.15 ±20.41) (t =-3.121,P ＜0.05),while the DQ of gross motor after the treatment (28.27 ± 14.65) was sigrificantly lower than that before treatment (35.23 ± 17.23) (t =2.75,P ＜ 0.05).The other 4 domains before the treatment were 37.47 ± 14.47,37.06 ± 11.51,40.69 ± 12.10 and 40.41 ± 15.79,and had no remarkable change after the treatment (39.44 ±16.29,35.96 ±10.76,40.26 ±14.20 and 38.61± 11.95) (allP＞0.05).Conclusions Children with chronic cerebellar ataxia presented as hypotonia with delayed motor function,and ususlly had inherent cerobellum abnormalities,without matter structure or function of the neuron.Chronic ataxia is an important symptom in genetic or metabolic disease,and a systematic approach may enhance diagnostic accuracy.

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.

Integrated Model of Rehabilitation and Education of Cerebral Palsy in Hospital / 中国康复理论与实践

@#ObjectiveTo explore the new rehabilitation model of medication combined with education of cerebral palsy.MethodsThe cross-professionals were organized to assess and observe 126 children with cerebral palsy. Then, individual education plan (IEP) combined with medication, family, feeding was made and performed.ResultsAfter educational rehabilitation, the children with cerebral palsy got improvement in intellection, social adaptation, communion aspiration, thinking and etc. They became more cooperated in medical rehabilitation.ConclusionInterdisciplinary cooperation, IEP, participation of parents are the conditions for success of medical rehabilitation combined with education.