Autism spectrum disorder (ASD) is a neurodevelopmental disorder that can lead to severe social behavioral difficulties, which mainly manifests as social communication and interaction disorders; narrow interests; and repetitive, stereotyped behaviors. In recent years, the prevalence of ASD has increased annually, and it has evolved from a rare disease to one with a high incidence among childhood developmental disorders. The pathogenesis of ASD is considered to be the interaction of genetic and environmental factors. There is increasing evidence that vitamin D deficiency in pregnancy and early childhood can lead to the occurrence of ASD. Studies have demonstrated that vitamin D intervention can significantly improve the symptoms of ASD, but the underlying mechanism is still unclear. Therefore, exploring the neuroprotective mechanism of vitamin D against ASD is a huge challenge currently being worked on by current basic and clinical researchers, a task which is of great significance for the clinical promotion and optimization of vitamin D in the treatment of ASD. To further clarify the relationship between vitamin D and ASD, this review summarizes the correlation between vitamin D level and ASD, the effects of vitamin D supplementation on ASD, the possible mechanism of vitamin D involved in ASD, and insights from ASD animal models.

ObjectiveTo screen and analyze the genetic mutations in the PPP1CB gene in a patient with Noonan syndrome with loose anagen hair-2 (NSLH2) in Yunnan Province, China and explore the possible molecular pathogenesis.MethodsAfter obtaining informed consent, we collected the patient's medical history and carried out physical and laboratory examinations for the NSLH2 proband and the family members. Genomic DNA was extracted from the peripheral blood of all individuals. The coding regions including all pathogenic exons, parts of introns, and promoters of genes were sequenced by next-generation sequencing. Pathogenic mutations, which were detected in the probands and their parents, were verified by Sanger sequencing.ResultsThe clinical manifestations of NSLH2 included prominent forehead, yellowish hair, slightly wide eye distance, sparse eyebrows, bilateral auricle deformity, reduced muscle tension, and cardiac and visual abnormalities. The proband carried a c.371A>G mutation in exon 3 of PPP1CB, which is a missense mutation. This was a de novo mutation as the parents of the proband showed no mutation at this site.ConclusionIn this study, we identified a novel mutation of PPP1CB, which enriched the mutation spectrum of the PPP1CB gene and provided a basis for the diagnosis of NSLH2.

Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder with deficient social skills, communication deficits and repetitive behaviors. The prevalence of ASD has increased among children in recent years. Children with ASD experience more sleep problems, and sleep appears to be essential for the survival and integrity of most living organisms, especially for typical synaptic development and brain plasticity. Many methods have been used to assess sleep problems over past decades such as sleep diaries and parent-reported questionnaires, electroencephalography, actigraphy and videosomnography. A substantial number of rodent and non-human primate models of ASD have been generated. Many of these animal models exhibited sleep disorders at an early age. The aim of this review is to examine and discuss sleep disorders in children with ASD. Toward this aim, we evaluated the prevalence, clinical characteristics, phenotypic analyses, and pathophysiological brain mechanisms of ASD. We highlight the current state of animal models for ASD and explore their implications and prospects for investigating sleep disorders associated with ASD.