Self-injury behavior (SIB) is a common problem behavior of children with autism spectrum disorder (ASD), which is characterized by a series of harmful reactions made by themselves causing tissue and physical damages.It seriously affects the physical and mental health in children.An early identification of SIB in children with ASD is helpful to relieve symptoms and improve the prognosis.Aiming to enrich the understanding of SIB in children with ASD and to promote early detection and intervention, this article reviews and summarizes the research on clinical characteristics, influencing factors, evaluation, detection and intervention methods of SIB in children with ASD in recent years.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by difficulties in social communication and interaction, restricted and repetitive behaviors, interests and activities, and abnormal perception.Obsessive compulsive disorder (OCD) is one of the common comorbid mental diseases of ASD.Accurate identification of the obsessive-compulsive symptoms and OCD comorbidity of ASD and early intervention are essential for the prognosis of patients.However, there are few domestic studies on comorbid OCD in ASD.Based on previous studies abroad, the progress of research on the epidemiology, etiology and neural mechanism, clinical characteristics, evaluation, diagnosis, intervention and treatment of comorbid OCD in ASD was reviewed in this paper.It aims to identify the manifestations of OCD in ASD patients in the early stage and improve the prognosis of patients.

OBJECTIVE: To explore the genetic basis for a Chinese patient suspected for Canavan disease. METHODS: Whole exome sequencing (WES) was carried out for the proband, and candidate variants were verified by Sanger sequencing of the proband, her parents and brother. Prenatal diagnosis was provided to her mother by chorionic villi sampling (CVS) upon her subsequent pregnancy. RESULTS: The proband, a 4-month-old female infant, had manifested drowsiness, hypotonia and apathy. Urine metabolism screening showed elevated N-acetylaspartic acid. Cranial magnetic resonance imaging revealed abnormal myelination and multiple abnormal signals in large brain areas. WES revealed that the proband has harbored compound heterozygous variants of the ASPA gene, namely c.187A>G (p.Arg63Gly) in exon 1 and c.634+1G>A (P.?) in exon 4. Sanger sequencing confirmed that the c.187A>G (p.Arg63Gly) and c.634+1G>A (p.?) variants were respectively inherited from her mother and father. Her phenotypically normal brother has carried a heterozygous c.634+1G>A (p.?) variant. Prenatal diagnosis by CVS indicated that the fetus was a heterozygous carrier of the c.187A>G variant. CONCLUSION WES can facilitate the diagnosis of Canavan disease, particularly for those lacking specific phenotypes of the disease. The compound heterozygous variants of the ASPA gene probably underlay the Canavan disease in this patient, and the result has enabled prenatal diagnosis for this family.
Canavan Disease/genetics* ; China ; Female ; Humans ; Male ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis

Objective:To explore the genetic etiology of a child with delayed growth and development and carry out a literature review.Methods:A child suspected for Al Kaissi syndrome at the First Affiliated Hospital of Zhengzhou University on March 6, 2021 was selected as the study subject. Following extraction of genomic DNA, the child was subjected to copy number variation sequencing (CNV-seq) and whole exome sequencing (WES), and candidate variants were verified by PCR-agarose gel electrophoresis and quantitative real-time PCR (qPCR). Prenatal diagnosis was conducted on chorionic villi sample upon subsequent pregnancy.Results:The child, a 6-year-and-4-month-old boy, has dysmorphic features including low-set protruding ears and triangular face, delayed language and intellectual development, and ventricular septal defect. CNV-seq result has found no obvious abnormality, whilst WES revealed homozygous deletion of exons 1 and 2 of the CDK10 gene, which was confirmed by PCR -agarose gel electrophoresis and qPCR. Both of his parents were heterozygous carriers. Prenatal diagnosis using chorionic villi samples suggested that the fetus also carried the heterozygous deletion.Conclusion:The clinical features of Al Kaissi syndrome in this child can probably be attributed to the homozygous deletion of exons 1 and 2 of the CDK10 gene.