Objective To evaluate the functioning of children with cerebral palsy. Methods 22 children with cerebral palsy aged 7-12 years were investigated with ICF-CY Questionnaire. Results There were impairments in body function of mental function, neuromusculoskeletal and movement related functions, sensory functions and pain. There were barriers in activity and participation in the domains of learning and applying knowledge, general tasks and demands, communication, mobility, self-care, domestic life, interpersonal interactions and relations, major life areas, and community, social and civil life. The mental function and neuromusculoskeletal and movement related functions correlated with the most domains of activity and participation (P<0.05). Conclusion Children with cerebral palsy are severe in activity and participation, which may be mainly associated with the impairments of mental function and neuromusculoskeletal and movement related functions.

Objective To compare the features of activity and participation difficulty of children with cerebral palsy, intellectual disability and autism. Methods 42 children with cerebral palsy, intellectual disability, and autism aged 3-6 years were evaluated with ICF-CY Questionnaire. Results There were mild barriers in the domains of learning and applying knowledge, communication, mobility, self-care, domestic life and major life areas, and the moderate barriers in the domains of general tasks and demands, interpersonal interactions and relations. There were more barriers in learning and applying knowledge in children with cerebral palsy and intellectual disability than those with autism. Conclusion There are various features in activity and participation difficulty in children with cerebral palsy, intellectual disability or autism, which required diversity of educational rehabilitation strategies.

ObjectiveTo explore the effect of comprehensive rehabilitation therapy on wrist-hand functional disorder after fracture.Methods14 patients with wrist-hand functional disorder after fracture were treated with comprehensive rehabilitation therapy,including recovery of range of motion (ROM),functional exercise,occupational therapy,and physical therapy. The therapeutic effect was evaluated by ROM of wrist-hand joint (TAM) and activity of daily living (ADL).ResultsAfter treatment,patients' ROM and ADL were incrased than before (P<0.05).ConclusionComprehensive rehabilitation therapy has definitely therapeutic effect on wrist-hand functional disorder.

OBJECTIVETo identify potential disease-causing mutation in the COL2A1 gene in a Chinese family affected with autosomal dominant spondyloepiphyseal dysplasia congenita (SEDC; OMIM 183900) and to analyze the phenotype-genotype correlation.

METHODSComplete physical, and radiographic examinations of 4 affected individuals from the family were conducted. Genomic DNA was isolated from peripheral blood leukocytes. Whole-exome sequencing was performed using a HiSeq2000 sequencer. All 54 exons and exon-intron boundaries of the COL2A1 gene were amplified by polymerase chain reaction (PCR) and bidirectionally sequenced.

RESULTSAll of the 4 individuals were found to carry a novel missense mutation of c.2224G>A (p.Gly687Ser) in the COL2A1 gene, while the same mutation was not found in the normal members of the family and 50 healthy controls. Protein prediction of missense mutation by Polyphen-2 and SIFT software indicated severe damage to the function.

CONCLUSIONThe mutation c.2224G>A (p.Gly687Ser) of the COL2A1 gene is responsible for this family. There are heterozygous of phenotype for the mutation.

Adolescent ; Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; Collagen Type II ; genetics ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation, Missense ; Osteochondrodysplasias ; congenital ; genetics ; Pedigree ; Point Mutation ; Young Adult