deamino-arginine-vasopressin and Autism-Spectrum-Disorder

Nocturnal enuresis (bedwetting) is a common disorder affecting 10-16% of 7-year-old children globally. Nocturnal enuresis is highly heritable, but its genetic determinants remain unknown. We aimed to identify genetic variants associated with nocturnal enuresis and explore its genetic architecture and underlying biology.. We did a genome-wide association study (GWAS) of nocturnal enuresis. Nocturnal enuresis cases were identified in iPSYCH2012, a large Danish population-based case cohort established to investigate mental disorders, on the basis of 10th revision of the International Statistical Classification of Diseases (ICD-10) diagnoses and redeemed desmopressin prescriptions in Danish registers. The GWAS was done in a genetically homogeneous sample of unrelated individuals using logistic regression with relevant covariates. All genome-wide significant variants were analysed for their association with nocturnal enuresis in an independent Icelandic sample from deCODE genetics. Standardised polygenic risk scores for attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder were constructed from summary statistics of large GWASs and analysed for association with nocturnal enuresis.. The GWAS included 3882 nocturnal enuresis cases and 31 073 controls. We found two loci at chromosome 6 and chromosome 13 significantly associated with nocturnal enuresis. Six genetic variants at the two loci (five variants at chromosome 6q16.2 and one variant at chromosome 13q22.3) surpassed the threshold for genome-wide significance (p<5 × 10. This study shows that common genetic variants contribute considerably to nocturnal enuresis, and it identifies potential nocturnal enuresis risk genes with roles in sleep, urine production, and bladder function. Given that available treatments target these mechanisms, any of the identified genes and their functional gene networks are potential drug targets.. The Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Stanley Foundation.

Topics: Attention Deficit Disorder with Hyperactivity; Autism Spectrum Disorder; Child; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 6; Deamino Arginine Vasopressin; Female; Genetic Loci; Genetic Variation; Genome-Wide Association Study; Humans; Male; Nocturnal Enuresis; Phenotype

There is a high prevalence of enuresis in children with neurodevelopmental disorders, yet research regarding treatment for this group has been neglected. The efficacy of treatment using bell and pad alarm therapy is not well reported especially in children with neurodevelopmental disorders. This study sought to compare the treatment efficacy of practitioner-assisted bell-and-pad enuresis alarm therapy for children with neurodevelopmental disorders and typically developing children.. This study utilized the data of Apos et al. (2018), a retrospective medical record audit collected from multiple clinical settings across Australia. A total of 2986 patient records (3659 treatment records) were included. The participants were children aged 5-16 years, who were diagnosed with enuresis. Children with a neurodevelopmental disorder (n = 158) had a clinical diagnosis present in the medical history of attention deficit disorder, autism spectrum disorder, or intellectual disability. Children who indicated any of the following comorbidities were excluded: cerebral palsy, brain injury, malformation of the renal tract, previous bladder or renal surgery, spinal cord malformation, spinal cord trauma or tumor, or a neurodegenerative disorder. Treatment success was defined as ≥ 14 dry nights. Relapse was defined as one symptom recurrence per month post-interruption of treatment, as defined by the International Children's Continence Society definitions.. The success rate for children with neurodevelopmental disorders was 62% and typically developing children was 78%. There was no significant difference between the number of treatments received or relapse rates by those children with a neurodevelopmental disorder and typically developing children. The summary figure shows the percentage of children in each group after their first treatment who were successful (success defined as dry for ≥ 14 days), who succeeded (dry for ≥ 14 days) but then relapsed and those who showed no success. The percentage of children with no NDD who were successfully dry after the first treatment was 78%. Children with ID had success after the first treatment of 59%, the lowest of all groups analyzed.. The type of alarm therapy reported in this study is effective for treating enuresis in children with neurodevelopmental disorders.

Topics: Autism Spectrum Disorder; Child; Deamino Arginine Vasopressin; Enuresis; Humans; Neurodevelopmental Disorders; Nocturnal Enuresis; Retrospective Studies