SNX10 gene mutation in infantile malignant osteopetrosis: A case report and literature review / 中南大学学报(医学版)

A case of SNX10 gene mutation in a patient with infantile malignant osteopetrosis (IMO) was admitted to Department of Pediatrics, Third Xiangya Hospital, Central South University. The patient had the symptom of anemia, hepatosplenomegaly and growth retardation. The X-ray examination suggested extensive increase of bone density throughout the body, which was clinically diagnosed as IMO. The homozygous mutation of SNX10 gene c.61C>T was found via gene sequencing. We reviewed the relevant literatures and found that anemia, visual and hearing impairment, hepatosplenomegaly are the main clinical symptoms of IMO, SNX10 gene mutation is a rare cause of IMO, and hematopoietic stem cell transplantation is an effective treatment.

Research on developmental characteristics of autistic children with different functional levels / 临床儿科杂志

Objective To explore the developmental characteristics of different functional levels of autism and the diffe-rence in children. Methods A total of 159 autistic children aged 13-71 months including 85 high-functioning autistic (HFA) chil-dren and 74 low-functioning autistic (LFA) children were evaluated for their developmental characteristics by the development scales from the psycho-educational profile-revised (PEP-R). Results Within the same age group, both HFA and LFA children had obvious unbalance in individual ability development (H=41.68~113.51, P<0.01). Impaired cognitive performance is most common in HFA children. The development of cognitive performance was inconsistent with cognitive expression while the gross motor development was normal. The ability development in LFA children were all impaired, especially in imitation, cogni-tive performance and cognitive expression. With increasing age, the scores of imitation, perception, cognitive performance, cog-nitive expression and overall development quotient were increased gradually in HFA children (P<0.05) while the scores of cogni-tive performance and overall development quotient were decreased in LFA children. Conclusions Autistic children tend to have abnormal developmental progress and order, and individual ability development varies by functional level in autistic children with increasing age.