Interplay of circadian clock and melatonin pathway gene variants in adults with autism, intellectual disability and sleep problems

Background: People diagnosed with Autism Spectrum Disorder and intellectual disability (ID) usually experience sleep problems, where circadian clock and melatonin pathway genes may play a role.Method: Our aim was to analyze the influence of genetic variants PERI, ASMT, NPAS2, and MTNRIA by MassARRAY, in sleep-wake rhythms in a group of autistic adults with ID, cases (n 83) and controls (n = 25). Sleep-wake rhythms were evaluated with ambulatory circadian monitoring.Results: In autistic cases (age 18-4lyears), PERI rs6416892-GG and ASMT rs5989681-GG genotypes had a better sleep pattern according to sleep onset latency and awakenings; together with a worse sleep and/or temperature rhythm. Furthermore, diurnal temperature values were affected by NPAS2 rs1811399-CC genotype.Conclusions: Normal and abnormal sleep-wake rhythms could be related to circadian clock (PER1) and melatonin pathway (ASMT) gene variants. There is a need for further research to translate this data into clinical decisions or risk profiles.