Pura Ballester, María Del Mar Inda, Javier Muriel, Ana M. Peiró (Neuropharmacology on Pain (NED), Alicante Institute for Health and Biomedical Research (ISABIAL-FISABIO Foundation)), María José Martínez Madrid (Chronobiology Laboratory, University of Murcia), Auxiliadora Javaloyes Sanchís (EDUCATEA, Education Center for Children and Adolescents with Autism, Mental Health Problems and Behavioural Disorders, Alicante), César Belda Cantó (Infanta Leonor Autism Center, Alicante), Víctor Aguilar (San Rafael Autism Center, Santa Faz), Amanda L. Richdale (Olga Tennison Autism Research Centre, School of Psychology & Public Health, La Trobe University, Melbourne) and Domingo Morales (Operations Research Center, University Miguel Hernández of Elche)
Abstract: 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 PER1, ASMT, NPAS2, and MTNR1A 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 18−41years), PER1 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.