Sleep Disturbances in Children Affected by Autism Spectrum Disorder

Galli, Jessica; Loi, Erika; Visconti, Lucrezia Maria; Mattei, Paola; Eusebi, Anna; Calza, Stefano; Fazzi, E.

doi:10.3389/fpsyt.2022.736696

Cited by 14 publications

(8 citation statements)

References 72 publications

(83 reference statements)

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“…This is important, since if we would have not done the BRAVO pH study on those patients and opted to do only an upper gastrointestinal endoscopy, we would not have found GER and appropriately treated those patients. The only significant finding was a higher symptom correlation for GER symptoms during supine position in ASD children compared to non‐ASD children, suggesting a higher frequency of GER during sleep (supine position) that could potentially explain the high prevalence of sleep disorders reported in ASD patients (20). There are no studies reporting the use of the BRAVO wireless pH to evaluate GER in children with ASD.…”

Section: Discussionmentioning

confidence: 98%

Evaluation of Gastroesophageal Reflux Disease in Children on the Autism Spectrum: A Study Evaluating the Tolerance and Utility of the BRAVO Wireless pH Monitoring

Rodriguez

Morley-Fletcher

Winter

et al. 2022

Journal of Pediatric Gastroenterology &Amp; Nutrition

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Objectives: Children on the autism spectrum disorder (ASD) may express pain or discomfort through stereotypic or self-injurious behaviors. Gastroesophageal reflux disease (GERD) may be challenging to diagnose in a child who is non-verbal or has impaired communication skills, diagnostic testing for GERD may be the only way to establish the diagnosis. We report our experience using the BRAVO wireless pH monitoring device for the evaluation of GERD in this patient population. Methods: Tolerance and feasibility as well as pH parameters and symptom correlation of the BRAVO pH were evaluated retrospectively in ASD children and compared it to a large cohort of non-ASD children. Only patients with studies lasting >24 hours were included. Results: A total of 172 patients were included, 27 of those were diagnosed with autism (median age 11 years, 17 male). We found no difference in age and weight between both groups but there was a male predominance in the autism group (P = 0.007). We found no difference in the ability to complete at least 24 hours of study duration between both groups (24/27 or 89% in ASD vs 133/145 or 92% non-ASD patients, P = 0.632). We also found no difference in the median reflux index on the worst day (P = 0.27) or the average of both days (P = 0.75), BRAVO pH parameters and the proportion of abnormal studies between ASD and non-ASD children. When evaluating the overall symptom correlation with GER episodes, we did not find a difference between both groups, but we did find a higher symptom correlation for GER symptom during supine position in ASD children. Study was performed for behavioral indication in 11 ASD children, all had normal esophageal mucosa but 4 of those had an abnormal BRAVO pH study. No significant side effects were reported during the study, only 2 patients (1 non-ASD and 1 ASD) complained of self-limited chest pain. Conclusions: BRAVO wireless pH is well tolerated and feasible in evaluating GER and behavioral symptoms in ASD children and provides a reasonable alternative to standard trans-nasal pH monitoring.

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Section: Discussionmentioning

confidence: 98%

Evaluation of Gastroesophageal Reflux Disease in Children on the Autism Spectrum: A Study Evaluating the Tolerance and Utility of the BRAVO Wireless pH Monitoring

Rodriguez

Morley-Fletcher

Winter

et al. 2022

Journal of Pediatric Gastroenterology &Amp; Nutrition

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“…[20,21] Sleep problems were present in less than half of the participants; however, it is known that changes in the sleep-wake cycle can influence both the central symptoms and the intensification of the other disruptive symptoms mentioned above, such as aggression and agitation. [22,23] In the evaluated sample, approximately 40% had epilepsy or ADHD. The prevalence of epilepsy increases in autistic people when compared to normal individuals, ranging from 5% to 40%.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Efficacy and tolerance profile of risperidone use in people with autism spectrum disorder in a clinic in Santarém, Pará, Brazil. A retrospective study

Silva

Honorato

Cremaschi

et al. 2023

JNRP

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Objectives: This study aimed to obtain the profile of efficacy and tolerance of risperidone in the treatment of people with autism spectrum disorder. Materials and Methods: This research was a cross-sectional and retrospective study. The medical records of 100 patients diagnosed with ASD according to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) were analyzed and measures of central tendency and correlation between variables such as gender, age at diagnosis, symptoms, daily dose, comorbidities, polytherapy, adverse drug effects, and outcome (improvement, worsening, and drug discontinuation) were calculated using Pearson’s R test with a level of statistical significance P < 0.05. Results: The male gender was the most affected, corresponding to 80% of the participants. The mean age at diagnosis was 6.88 ± 6.24 and the mean dose was 1.89 ± 1.68 mg/day. The use of risperidone for patients with aggressiveness, hyperactivity, insomnia, or self-harm improved in 76% of patients and adverse effects were reported in 27% of cases. The presence of self-harm implied lower chances of improvement (P = 0.05/r = −0.20). Adverse effects were strong predictors of discontinuation (P = 0.01/r = 0.39), and epileptic patients were more likely to have them (P = 0.02/r = 0.20). Male gender was associated with dosages lower than 2 mg/day (P = 0.05/r = 0.23). Conclusion: Risperidone is a good option in the management of secondary symptoms of ASD, generally requiring low doses and presenting an acceptable profile of adverse effects. The age of diagnosis does not affect the drug’s efficiency, but it can make the management of ASD difficult.

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“…NDPCs are characterised by their symptomatology, with many of them displaying overlapping symptoms. One example of such overlapping symptoms are sleep problems, considered a core symptom in the diagnostic criteria for BP (DSM-5; American Psychiatric Association, 2013), present in up to 80% of individuals with SCZ (3) and AUT (4,5) and observed in up to 50% of those with ADHD (6).…”

Section: Introductionmentioning

confidence: 99%

Pathway-based polygenic score analysis identifies the NRF2-KEAP1 and mRNA splicing - minor pathways as enriched in shared genetic variation between chronotype and bipolar disorder.

Fahey,

Lopez

2024

Preprint

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It has been postulated that circadian dysfunction may contribute to the sleep problems prevalent in neurodevelopmental and neuropsychiatric conditions. Genetic correlations between numerous pairs of neurodevelopmental or neuropsychiatric and sleep phenotypes have been identified. We hypothesize that this overlapping genetic variation is enriched in certain biological pathways. We used genome-wide polygenic score analysis to confirm previously reported genetic correlations and pathway-based polygenic score analysis to identify enriched pathways. We created polygenic scores using summary statistics from the largest genome-wide association studies (GWAS) of autism (AUT), attention-deficit/hyperactivity disorder (ADHD), schizophrenia (SCZ) and bipolar disorder (BP). We tested the performance of these polygenic scores in predicting chronotype and insomnia status of UK Biobank participants. For the pathway-based polygenic scores, we restricted genetic variation to SNPs that mapped to genes within 451 pathways from the Reactome database. Genome-wide polygenic scores for AUT, SCZ and BP were found to be associated with an evening chronotype, and polygenic scores for ADHD, AUT, SCZ and BP were found to be associated with insomnia status. Pathway-based polygenic score analysis identified the NRF2 KEAP1 and mRNA splicing minor pathways as being enriched for genetic variation overlapping between chronotype and BP. For the NRF2 KEAP1 pathway, the signal is enriched in the subset of genes that function with KEAP1 to regulate NRF2 expression. Examination of eQTL data pointed to BP associated SNPs within these gene-sets being associated with expression changes of many genes to which they map. A number of these eQTL SNPs were reported to be genome-wide significant for SCZ in previous studies. These results demonstrate that the overlapping genetic variation between chronotype and BP is enriched in genes involved in the NRF2-KEAP1 and mRNA splicing minor pathways. Animal model and human cell line studies have previously linked the NRF2 pathway to the pathology of BP and SCZ. Additionally, NRF2 and splicing components have been reported to be rhythmically regulated by circadian clock genes. Our results suggest that these pathways could be involved in mediating the disrupted circadian rhythm phenotype of BP.

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Sleep Disturbances in Children Affected by Autism Spectrum Disorder

Cited by 14 publications

References 72 publications

Evaluation of Gastroesophageal Reflux Disease in Children on the Autism Spectrum: A Study Evaluating the Tolerance and Utility of the BRAVO Wireless pH Monitoring

Evaluation of Gastroesophageal Reflux Disease in Children on the Autism Spectrum: A Study Evaluating the Tolerance and Utility of the BRAVO Wireless pH Monitoring

Efficacy and tolerance profile of risperidone use in people with autism spectrum disorder in a clinic in Santarém, Pará, Brazil. A retrospective study

Pathway-based polygenic score analysis identifies the NRF2-KEAP1 and mRNA splicing - minor pathways as enriched in shared genetic variation between chronotype and bipolar disorder.

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