Objective To apply karyotype analysis/genetic testing in children suspected with hereditary disease. Methods From July, 2014 to July, 2016, a total of 47 cases in our department were tested using G-banding karyotype analysis or selected the relevant genetic package, for screening the related diseases. Results 38 cases received karyotype analysis, in which three cases were abnormal, and one case was diagnosed definitely. And nine cases received related genetic testing, in which seven cases were abnormal, and four cases were diag-nosed definitely. Totally, the positive rate was 21.28%, and the diagnosis rate was 10.64%. Conclusion Karyotype analysis/genetic testing is an etiological diagnosis method for highly suspected hereditary disease in children.

Objective To investigate the long-term effect of Botulinum toxin type A (BTX-A) block on spasticity in cerebral palsy. Methods From June, 2005 to December, 2013, 51 children with spastic cerebral palsy accepted routine rehabilitation with (trial group, n=24) or without (control group, n=27) BTX-A block. They were assessed with modified Ashworth Scale (MAS), Physician Rating Scale (PRS) and Gross Motor Function Measure (GMFM) before treatment, and with PRS and GMFM two years after treatment. Results There was no significant difference between two groups in ages, body mass, and scores of MAS, PRS and GMFM before treatment (t<1.207,χ2=0.076, P>0.05). The scores of PRS and GMFM improved in both groups two years after treatment (t>2.217, P<0.05), and improved more in the trial group than in the control group (t>2.095, P<0.05). Conclusion The long-term effect of BTX-A block is positive. The rehabilitation training after block can promote their motor function recovery.

Objective: To observe the effect of compound preparation of milkvetch root and breviscapine (HDs) on the activity of superoxide dismutase (SOD) and lactate dehydrogenase(LDH), the concentration of malondialdehyde (MDA) in blood and brain and memory impairment in Alzheimer's disease rats.Methods: The rats were randomly divided into 5 groups (10 rats /group): the normal control group, Alzheimer's disease (AD) model group induced by AlCl3(5 mg·kg -1·d-1,ig) and D-gal (40 mg·kg-1·d-1,ip), and 3 AD groups respectively treated with different drugs including piracetam (0.15 g·kg-1·d-1,ig), HDs1(1.5 ml·kg-1·d-1,ip) and HDs2 (3 ml·kg-1·d-1,ip).After 90-day treatment, the step-down test was used to detect the learning and memory ability, and SOD and LDH activity and MDA concentration in blood and brain were examined as well.Results: Compared with that in AD model group, the ability of learning and memory was improved, the activity of SOD and LDH increased significantly, the concentration of MDA decreased significantly in blood and brain in HDs treated groups.The differences were statistically significant (P<0.05 or P<0.01), but they were not restored to normal levels.Some indexes of HDs2 group were better than those of piracetam positive control group and HDs1 group (P<0.05 or P<0.01).Conclusion: HDs can effectively reduce MDA concentration, increase SOD and LDH activity in blood and brain, and improve the ability of learning and memory of AD rats.

Objective To observe the energy consumption of children with cerebral palsy before and after assisted walking. Methods From January, 2014 to October, 2015, 21 children in primary school of Grades 1~5 (control group) and 22 children with cerebral palsy in our hospital (observation group) were enrolled. They were required to walk in the 50 meters trail for six minutes. The resting heart rate, the walking distance and the heart rate after walking were measured, and the walking speed and the physical consumption index (PCI) were cal-culated. The observation group was tested with and without forearm crutches. Results Compared with the control group, the walking dis-tance and speed significantly decreased (t>10.653, P<0.001), and the PCI significantly increased (t>4.207, P<0.001) in the observation group. For the observation group without forearm crutches, the heart rate after walking, and the difference of the heart rate significantly de-creased (t=8.389, P<0.001), and the walking distance, walking speed and PCI decreased (t>2.382, P<0.05) when they walked with forearm crutches. Conclusion Assisted walking can decrease the energy consumption of children with cerebral palsy.

Objective To observe the effect of forearm crutches on motor function of children with spastic cerebral palsy. Methods 60 children with spastic cerebral palsy were divided into observation group (n=30) and control group (n=30). The control group accepted rou-tine rehabilitation, while the observation group were also trained to use forearm crutches. They were assessed with Gross Motor Function Measure-88 (GMFM-88) and Balancer. The way of item 70 of GMFM-88 was used to assess the mobile capability. Results The scores of GMFM-88 significantly improved in both groups after treatment (t>6.002, P<0.001), and improved more in the observation group than in the control group (t=2.317, P<0.05). The whole path length and the circumference area reduced in both groups after treatment (P<0.05), and reduced more in the observation group with the assist of the forearm crutches (P<0.01). The incidence of walking was more in the observa-tion group with the assistant of the forearm crutches (χ2=25.87, P<0.01). Conclusion Forearm crutches assistant can improve the recovery of motor function, balance and walking ability in children with spastic cerebral palsy.

Objective To study the rehabilitation for cerebral palsy combined with hypothalamic hamartoma. Methods A case accepting rehabilitation over 4 years was reviewed, especially the body length, body mass, bone age, hormone levels, the scores of Gross Motor Func-tion Measure (GMFM) and 0 to 6 Years Old Children's Neuropsychological Examination. Results After treatment of inhibitory precocious puberty and rehabilitation training, the body length, body mass, bone age, hormone levels, scores of GMFM and 0 to 6 Years Old Children's Neuropsychological Examination improved. Since epilepsy at the recent time, her motor, response and emotional control declined. Conclu-sion For similar cases, it is necessary to regularly review, to find problems and adjust the treatment and rehabilitation program in time.

Objective To discuss the distance training for medical staff of children's rehabilitation. Methods 15 lessions were carried out using computer software from April, 2013 to November, 2014 in our centre. 7 cooperative hospitals participated the trainings. The implemen-tation effect was surveyed after training. Results 2693 person-times attended the trainings, including 2109 person-times with living distance training and 584 person-times with video distance training. In the following sampling survey, 92.8%staff thought that the distance training was helpful to their work. 98.6%staff thought that the living distance training was better than the video distance training and 88.6%staff thought their rehabilitation level improved after the distance training. Conclusion The distance training of children's rehabilitation has the advantages of economy, convenience and celerity. It has a wide developmental prospect.

Objective To explore the application of gas chromatography mass spectrometry (GC/MS) in children with high risk of inher-ited metabolic disease. Methods From March, 2010 to November, 2015, 119 children suspected with inherited metabolic disease were in-cluded. The urinary organic acid was detected with GC/MS, and related diseases were screened. Results Seventeen children (14.29%) were positive with inherited metabolic disease, in which 16 cases (94.12%) manifested with development retardation. 20 children (16.81%) were probable positive. Conclusion GC/MS is effective in screening children with high risk of inherited metabolic disease, which can provide ba-sis for further diagnosis.

Objective To summarize the result of blood examination for the children with the developmental retardation and suspected inherited metabolic diseases. Methods Tandem mass spectrometry was used to detect the small molecule metabolites content of acylcarnitine and amino acid in filter paper in 97 children from March 2010 to October 2013. Results There were 3 cases of positive (3.09%), 55 of suspicion (56.7%). Conclusion Tandem mass spectrometry is valuable to screen etiology for children with developmental retardation.

Objective To observe the effect of Botulinum toxin type A (BTX-A) injection on spastic hamstring in the children with cerebral palsy. Methods 39 cerebral palsy children with spastic hamstring were divided into control group (n=20) and experimental group (n= 19). The control group accepted physical therapy, while the experimental group accepted BTX-A injection in affected hamstring in addition.They were assessed with modified Ashworth Scale (MAS), Gross Motor Fucntion Measure (GMFM-88) and flexion angle of knee joints before and after treatment. Results The scores of MAS and GMFM-88, and flexion angle of knee joints improved significantly 6 weeks after treatment in the experimental group (P<0.05), and improved more than that in the control group (P<0.05). Only the score of GMFM-88 improved significantly in the control group (P<0.05). Conclusion BTX-A injection can relieve hamstring spasticity in children with cerebral palsy, which may be helpful to correct abnormal gait and improve the motor function.