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MOTIVATION: Phecodes are widely used and easily adapted phenotypes based on International Classification of Diseases codes. The current version of phecodes (v1.2) was designed primarily to study common/complex diseases diagnosed in adults; however, there are numerous limitations in the codes and their structure. RESULTS: Here, we present phecodeX, an expanded version of phecodes with a revised structure and 1,761 new codes. PhecodeX adds granularity to phenotypes in key disease domains that are under-represented in the current phecode structure-including infectious disease, pregnancy, congenital anomalies, and neonatology-and is a more robust representation of the medical phenome for global use in discovery research. AVAILABILITY AND IMPLEMENTATION: phecodeX is available at https://github.com/PheWAS/phecodeX.
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Estudio de Asociación del Genoma Completo , Fenómica , Polimorfismo de Nucleótido Simple , FenotipoRESUMEN
BACKGROUND: Benzodiazepine hypnotics and the related nonbenzodiazepine hypnotics (z-drugs) are among the most frequently prescribed medications for older adults. Both can depress respiration, which could have fatal cardiorespiratory effects, particularly among patients with concurrent opioid use. Trazodone, frequently prescribed in low doses for insomnia, has minimal respiratory effects, and, consequently, may be a safer hypnotic for older patients. Thus, for patients beginning treatment with benzodiazepine hypnotics or z-drugs, we compared deaths during periods of current hypnotic use, without or with concurrent opioids, to those for comparable patients receiving trazodone in doses up to 100 mg. METHODS AND FINDINGS: The retrospective cohort study in the United States included 400,924 Medicare beneficiaries 65 years of age or older without severe illness or evidence of substance use disorder initiating study hypnotic therapy from January 2014 through September 2015. Study endpoints were out-of-hospital (primary) and total mortality. Hazard ratios (HRs) were adjusted for demographic characteristics, psychiatric and neurologic disorders, cardiovascular and renal conditions, respiratory diseases, pain-related diagnoses and medications, measures of frailty, and medical care utilization in a time-dependent propensity score-stratified analysis. Patients without concurrent opioids had 32,388 person-years of current use, 260 (8.0/1,000 person-years) out-of-hospital and 418 (12.9/1,000) total deaths for benzodiazepines; 26,497 person-years,150 (5.7/1,000) out-of-hospital and 227 (8.6/1,000) total deaths for z-drugs; and 16,177 person-years,156 (9.6/1,000) out-of-hospital and 256 (15.8/1,000) total deaths for trazodone. Out-of-hospital and total mortality for benzodiazepines (respective HRs: 0.99 [95% confidence interval, 0.81 to 1.22, p = 0.954] and 0.95 [0.82 to 1.14, p = 0.513] and z-drugs (HRs: 0.96 [0.76 to 1.23], p = 0.767 and 0.87 [0.72 to 1.05], p = 0.153) did not differ significantly from that for trazodone. Patients with concurrent opioids had 4,278 person-years of current use, 90 (21.0/1,000) out-of-hospital and 127 (29.7/1,000) total deaths for benzodiazepines; 3,541 person-years, 40 (11.3/1,000) out-of-hospital and 64 (18.1/1,000) total deaths for z-drugs; and 2,347 person-years, 19 (8.1/1,000) out-of-hospital and 36 (15.3/1,000) total deaths for trazodone. Out-of-hospital and total mortality for benzodiazepines (HRs: 3.02 [1.83 to 4.97], p < 0.001 and 2.21 [1.52 to 3.20], p < 0.001) and z-drugs (HRs: 1.98 [1.14 to 3.44], p = 0.015 and 1.65 [1.09 to 2.49], p = 0.018) were significantly increased relative to trazodone; findings were similar with exclusion of overdose deaths or restriction to those with cardiovascular causes. Limitations included composition of the study cohort and potential confounding by unmeasured variables. CONCLUSIONS: In US Medicare beneficiaries 65 years of age or older without concurrent opioids who initiated treatment with benzodiazepine hypnotics, z-drugs, or low-dose trazodone, study hypnotics were not associated with mortality. With concurrent opioids, benzodiazepines and z-drugs were associated with increased out-of-hospital and total mortality. These findings indicate that the dangers of benzodiazepine-opioid coadministration go beyond the documented association with overdose death and suggest that in combination with opioids, the z-drugs may be more hazardous than previously thought.
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Analgésicos Opioides/efectos adversos , Benzodiazepinas/efectos adversos , Hipnóticos y Sedantes/efectos adversos , Mortalidad , Medicamentos bajo Prescripción/efectos adversos , Anciano , Anciano de 80 o más Años , Analgésicos Opioides/administración & dosificación , Benzodiazepinas/administración & dosificación , Quimioterapia Combinada/efectos adversos , Femenino , Humanos , Hipnóticos y Sedantes/administración & dosificación , Masculino , Medicare , Medicamentos bajo Prescripción/administración & dosificación , Estudios Retrospectivos , Estados UnidosRESUMEN
The Per family of genes functions as a primary circadian rhythm maintenance in the brain. Mutations in PER2 are associated with familial advanced sleep-phase syndrome 1 (FASPS1), and recently suggested in delayed sleep phase syndrome and idiopathic hypersomnia. The detection of PER2 variants in individuals with autism spectrum disorder (ASD) and without reported sleep disorders, has suggested a role of circadian-relevant genes in the pathophysiology of ASD. It remains unclear whether these individuals may have, in addition to ASD, an undiagnosed circadian rhythm sleep disorder. The MSSNG database was used to screen whole genome sequencing data of 5,102 individuals with ASD for putative mutations in PER2. Families identified were invited to complete sleep phenotyping consisting of a structured interview and two standardized sleep questionnaires: the Pittsburgh Sleep Quality Index and the Morningness-Eveningness Questionnaire. From 5,102 individuals with ASD, two nonsense, one frameshift, and one de novo missense PER2 variants were identified (0.08%). Of these four, none had a diagnosed sleep disorder. Three reported either a history of, or ongoing sleep disturbances, and one had symptoms highly suggestive of FASPS1 (as did a mutation carrier father without ASD). The individual with the missense variant did not report sleep concerns. The ASD and cognitive profiles of these individuals varied in severity and symptoms. The results support a possible role of PER2-related circadian rhythm disturbances in the dysregulation of sleep overall and sometimes FASPS1. The relationship between dysregulated sleep and the pathophysiology of ASD require further exploration.
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Trastorno del Espectro Autista/genética , Proteínas Circadianas Period/genética , Trastornos del Sueño-Vigilia/genética , Sueño/genética , Adolescente , Trastorno del Espectro Autista/fisiopatología , Niño , Preescolar , Ritmo Circadiano/genética , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Mutación Missense/genética , Trastornos del Sueño-Vigilia/patologíaRESUMEN
OBJECTIVE: Epilepsy prevalence is higher in children with Autism Spectrum Disorder (ASD) and is a contributor to morbidity and mortality. Little is known about the recurrence rate after the first nonfebrile seizure in this population, specifically in regard to seizure type and electroencephalogram (EEG) findings. METHODS: We reviewed pediatric medical records at our institution between 2006 and 2016 for subjects with ASD who had a first seizure. We then looked for risk of a recurrent non-provoked seizure within the next two years. RESULTS: Overall, the recurrence rate in this study was 70.9%. This is much higher than the general population. The recurrence rate was higher in patients who had a generalized convulsion compared to those who had a behavioral arrest. When the first seizure was a generalized convulsion, there was an 84% chance of developing a second convulsion, whereas the recurrence rate was 59% for behavioral arrest type seizures (pâ¯=â¯0.002). The odds of having recurrence when the first seizure is a generalized convulsion was 5.36 higher than when it was a behavioral arrest (95% CI 2.14-13.42, pâ¯<â¯0.001). An abnormal EEG was a strong predictor of seizure recurrence in both seizure types. However, even with a normal EEG, generalized convulsions were more likely to recur within 2â¯years compared to behavioral arrest (OR 6.3, 95% CI 2.1-19). SIGNIFICANCE: The recurrence rate for nonfebrile seizures in children with ASD is much higher than the general population, especially for generalized convulsions. An abnormal EEG has a strong predictive value for seizure recurrence. However, even when the EEG is normal, the recurrence rate for generalized convulsions is quite high. This is an important finding as epilepsy contributes to morbidity and mortality in this group and may impact clinical decisions about when to start anti-seizure medications.
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Trastorno del Espectro Autista , Epilepsia Generalizada , Epilepsia , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/epidemiología , Niño , Electroencefalografía , Humanos , Recurrencia , Convulsiones/complicaciones , Convulsiones/epidemiologíaRESUMEN
OBJECTIVE: To assess the feasibility and acceptability of an educational sleep-promoting intervention (Sleep Coach Jr.) for school-aged children (ages 5-9) with type 1 diabetes (T1D) and their parents. METHODS: Parents and children (N = 39 dyads, mean child age = 8 years, 64% girls,) were randomized to either the Sleep Coach Jr. intervention, consisting of educational materials and three individual phone calls (N = 20), or the Standard Care condition (N = 19). Data were collected at enrollment and 3 months later. Children and parents wore actigraphy devices to obtain an objective measure of sleep characteristics, and parents completed questionnaire measures of sleep quality and psychosocial outcomes. Clinical data (i.e., hemoglobin A1c, glucose data) were obtained from children's medical records. RESULTS: Feasibility and acceptability of the study were demonstrated to be high; all three sessions were completed by 80% of parents randomized to the Sleep Coach Jr. intervention, and 90% of parents completed follow-up data at 3 months. Parents reported high levels of satisfaction with the study and identified barriers to participation. No changes were observed in children's sleep or diabetes outcomes, but parental sleep quality and well-being improved. CONCLUSIONS: A brief, behavioral sleep-promoting intervention is feasible and acceptable for school-aged children with T1D and their parents. A larger trial is needed to evaluate efficacy of the intervention.
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Diabetes Mellitus Tipo 1 , Niño , Preescolar , Diabetes Mellitus Tipo 1/terapia , Femenino , Humanos , Padres , Proyectos Piloto , Sueño , Encuestas y CuestionariosRESUMEN
BACKGROUND: Teens with type 1 diabetes (T1D) experience increased sleep disturbances, which have been linked to problems with adherence and glycemic control. As such, sleep represents a novel target to improve outcomes in teens. OBJECTIVE: To evaluate the feasibility, acceptability, and preliminary efficacy of a sleep-promoting intervention in teens with T1D. RESEARCH DESIGN AND METHODS: Teens aged 13 to 17 with T1D (n = 39) completed measures of sleep quality and diabetes management and wore actigraphs to obtain an objective measure of sleep. Hemoglobin A1C (HbA1c) was collected from medical records. Teens were randomized to Usual Care (n = 19) or the Sleep Coach intervention (n = 20). Teens in the Sleep Coach group received educational materials on healthy sleep habits and completed three individual telephone sessions. Follow-up data were collected at 3 months, including exit interviews with teens and parents. RESULTS: Feasibility of the study was excellent; 80% of teens in the Sleep Coach group completed all three sessions, and retention was high (90%). Based on actigraphy data, a significant improvement in sleep efficiency and sleep duration was observed (48-minute increase) among teens randomized to the Sleep Coach intervention, and teens in the control group were 7.5 times more likely to report poor sleep quality after 3 months than intervention participants. No change in HbA1c was observed. CONCLUSIONS: The Sleep Coach intervention for teens with T1D is a feasible and acceptable program that increased sleep duration and improved sleep quality for this high-risk population.
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Diabetes Mellitus Tipo 1/terapia , Tutoría , Trastornos del Sueño-Vigilia/terapia , Actigrafía , Adolescente , Glucemia/análisis , Glucemia/metabolismo , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/fisiopatología , Estudios de Factibilidad , Femenino , Hemoglobina Glucada/análisis , Hemoglobina Glucada/metabolismo , Humanos , Masculino , Monitoreo Fisiológico/métodos , Relaciones Padres-Hijo , Aceptación de la Atención de Salud , Proyectos Piloto , Sueño/fisiología , Trastornos del Sueño-Vigilia/complicacionesRESUMEN
Human genetic studies have implicated more than a hundred genes in Autism Spectrum Disorder (ASD). Understanding how variation in implicated genes influence expression of co-occurring conditions and drug response can inform more effective, personalized approaches for treatment of individuals with ASD. Rapidly translating this information into the clinic requires efficient algorithms to sort through the myriad of genes implicated by rare gene-damaging single nucleotide and copy number variants, and common variation detected in genome-wide association studies (GWAS). To pinpoint genes that are more likely to have clinically relevant variants, we developed a functional annotation pipeline. We defined clinical relevance in this project as any ASD associated gene with evidence indicating a patient may have a complex, co-occurring condition that requires direct intervention (e.g., sleep and gastrointestinal disturbances, attention deficit hyperactivity, anxiety, seizures, depression), or is relevant to drug development and/or approaches to maximizing efficacy and minimizing adverse events (i.e., pharmacogenomics). Starting with a list of all candidate genes implicated in all manifestations of ASD (i.e., idiopathic and syndromic), this pipeline uses databases that represent multiple lines of evidence to identify genes: (1) expressed in the human brain, (2) involved in ASD-relevant biological processes and resulting in analogous phenotypes in mice, (3) whose products are targeted by approved pharmaceutical compounds or possessing pharmacogenetic variation and (4) whose products directly interact with those of genes with variants recommended to be tested for by the American College of Medical Genetics (ACMG). Compared with 1000 gene sets, each with a random selection of human protein coding genes, more genes in the ASD set were annotated for each category evaluated (p ≤ 1.99 × 10-2). Of the 956 ASD-implicated genes in the full set, 18 were flagged based on evidence in all categories. Fewer genes from randomly drawn sets were annotated in all categories (x = 8.02, sd = 2.56, p = 7.75 × 10-4). Notably, none of the prioritized genes are represented among the 59 genes compiled by the ACMG, and 78% had a pathogenic or likely pathogenic variant in ClinVar. Results from this work should rapidly prioritize potentially actionable results from genetic studies and, in turn, inform future work toward clinical decision support for personalized care based on genetic testing.
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Trastorno del Espectro Autista/genética , Anotación de Secuencia Molecular , Animales , Trastorno del Espectro Autista/tratamiento farmacológico , Automatización , Encéfalo/metabolismo , Encéfalo/patología , Regulación de la Expresión Génica , Redes Reguladoras de Genes , Humanos , Mamíferos/genética , Ratones , Mutación/genética , Fenotipo , Mapeo de Interacción de ProteínasRESUMEN
OBJECTIVE: To describe adolescents' sleep on school and weekend nights using multiple methods and to examine the links between sleep variability, quality, and duration with diabetes indicators. METHODS: Adolescents with type 1 diabetes (N = 65, mean age = 15.0, 52.3% female, mean HbA1c = 8.9% or 74 mmol/mol) wore an actigraph and kept daily diaries recording sleep, activities, and blood glucose monitoring (BGM) habits for at least 7 days. Average daily BGM and blood glucose (BG) levels were obtained through glucometer downloads. HbA1c was obtained as part of clinic visits. Adolescents completed a sleep quality questionnaire (Pittsburgh sleep quality index [PSQI]), and adolescents and caregivers reported on adherence to diabetes treatment. RESULTS: Adolescents reported a mean PSQI global score of 5.37, which is above the clinical cutoff for poor sleep quality. Actigraphy data revealed that mean adolescent total sleep time was 6:54 (h:min), and participants slept more on weekend nights than on school nights (P < .001). Additionally, variability in sleep duration was significantly related to HbA1c, frequency of BGM, and average BG. Total sleep time and self-reported sleep quality were not significantly associated with adherence or glycemic control. CONCLUSIONS: Few adolescents with type 1 diabetes met recommendations for sleep duration, and many reported poor sleep quality. We identified significant associations between variability in sleep duration with poorer glycemic control and less frequent BGM, supporting the need to consider sleep patterns as a modifiable factor that may affect adherence and glycemic control.
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Sleep disturbances are extremely prevalent in children with neurodevelopmental disorders compared to typically developing children. The diagnostic criteria for many neurodevelopmental disorders include sleep disturbances. Sleep disturbance in this population is often multifactorial and caused by the interplay of genetic, neurobiological and environmental overlap. These disturbances often present either as insomnia or hypersomnia. Different sleep disorders present with these complaints and based on the clinical history and findings from diagnostic tests, an appropriate diagnosis can be made. This review aims to provide an overview of causes, diagnosis, and treatment of sleep disturbances in neurodevelopmental disorders that present primarily with symptoms of hypersomnia and/or insomnia.
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Trastornos del Neurodesarrollo , Trastornos del Sueño-Vigilia , Niño , Manejo de la Enfermedad , Humanos , Trastornos del Neurodesarrollo/clasificación , Trastornos del Neurodesarrollo/complicaciones , Trastornos del Neurodesarrollo/diagnóstico , Trastornos del Neurodesarrollo/psicología , Polisomnografía/métodos , Técnicas Psicológicas , Trastornos del Sueño-Vigilia/etiología , Trastornos del Sueño-Vigilia/psicología , Trastornos del Sueño-Vigilia/terapiaRESUMEN
PURPOSE: Autonomic dysfunction has been reported in autism spectrum disorders (ASD). Less is known about autonomic function during sleep in ASD. The objective of this study is to provide insight into the autonomic cardiovascular control during different sleep stages in ASD. We hypothesized that patients with ASD have lower vagal and higher sympathetic modulation with elevated heart rate, as compared to typical developing children (TD). METHODS: We studied 21 children with ASD and 23 TD children during overnight polysomnography. Heart rate and spectral parameters were calculated for each vigilance stage during sleep. Data from the first four sleep cycles were used to avoid possible effects of different individual sleep lengths and sleep cycle structures. Linear regression models were applied to study the effects of age and diagnosis (ASD and TD). RESULTS: In both groups, HR decreased during non-REM sleep and increased during REM sleep. However, HR was significantly higher in stages N2, N3 and REM sleep in the ASD group. Children with ASD showed less high frequency (HF) modulation during N3 and REM sleep. LF/HF ratio was higher during REM. Heart rate decreases with age at the same level in ASD and in TD. We found an age effect in LF in REM different in ASD and TD. CONCLUSION: Our findings suggest possible deficits in vagal influence to the heart during sleep, especially during REM sleep. Children with ASD may have higher sympathetic dominance during sleep but rather due to decreased vagal influence.
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Trastorno del Espectro Autista/fisiopatología , Frecuencia Cardíaca , Sueño , Envejecimiento , Sistema Nervioso Autónomo/fisiopatología , Niño , Preescolar , Femenino , Humanos , Masculino , Polisomnografía , Fases del Sueño , Sueño REMRESUMEN
Sleep disturbance is common in children with autism, resulting in a great need for effective treatments. To evaluate treatments for sleep disturbance in this population, it is critical to understand the relationship between measures of sleep captured by parent report and objective measures. The Children's Sleep Habits Questionnaire (CSHQ) and actigraphy-measured data from 80 children with autism and sleep-onset delay were evaluated. Reported problems with sleep-onset delay were concurrent with sleep duration problems in 66% of children, night wakings in 72% of children, and bedtime resistance in 66% of children; 38% of children were reported to have problems with all CSHQ insomnia domains. Actigraphy-measured sleep duration was correlated with estimates using CSHQ-reported bed and wake times.
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Actigrafía , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/fisiopatología , Educación en Salud , Padres/educación , Trastornos del Sueño-Vigilia/complicaciones , Trastornos del Sueño-Vigilia/fisiopatología , Sueño , Niño , Preescolar , Femenino , Humanos , Masculino , Padres/psicología , Trastornos del Inicio y del Mantenimiento del Sueño/complicaciones , Trastornos del Inicio y del Mantenimiento del Sueño/fisiopatología , Medicina del Sueño/educación , Encuestas y CuestionariosRESUMEN
The purpose of this review article is to explore the links between sleep and epilepsy and the treatment of sleep problems in children with autism spectrum disorder (ASD). Epilepsy and sleep have bidirectional relationships, and problems with both are highly prevalent in children with ASD. Literature is reviewed to support the view that sleep is particularly important to address in the context of ASD. Identification and management of sleep disorders may improve seizure control and challenging behaviors. In closing, special considerations for evaluating and treating sleep disorders in children with ASD and epilepsy are reviewed. This article is part of a Special Issue entitled "Autism and Epilepsy".
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Trastorno Autístico/fisiopatología , Epilepsia/fisiopatología , Trastornos del Sueño-Vigilia/etiología , Trastornos del Sueño-Vigilia/fisiopatología , Sueño , Niño , HumanosRESUMEN
The literature has been highly informative for when to use actigraphy and its validity in pediatric research. However, minimal literature exists on how to perform actigraphy, especially in special populations. We determined whether providing actigraphy training to parents and coordinators increased the nights of actigraphy data that could be scored. We compared two studies in children with autism spectrum disorders, one of which provided a basic level of training in a single-site trial and the other of which provided more detailed training to parents and coordinators in a multisite trial. There was an increase in scorable nights in the multisite trial containing a one-hour structured parent training session. Our results support the use of educational tools in clinical trials that use actigraphy.
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Actigrafía/métodos , Cuidadores/educación , Discapacidades del Desarrollo/fisiopatología , Padres/educación , Niño , Trastornos Generalizados del Desarrollo Infantil/fisiopatología , Preescolar , Ensayos Clínicos como Asunto/métodos , Femenino , Humanos , Masculino , Estudios Multicéntricos como Asunto/métodos , Medicina del Sueño/métodosRESUMEN
Sleep disorders are very common across neurodevelopmental disorders and place a large burden on affected children, adolescents, and their families. Sleep disturbances seem to involve a complex interplay of genetic, neurobiological, and medical/environmental factors in neurodevelopmental disorders. In this review, we discuss animal models of sleep problems and characterize their presence in two single gene disorders, Rett Syndrome, and Angelman Syndrome and two more commonly occurring neurodevelopmental disorders, Down Syndrome, and autism spectrum disorders. We then discuss strategies for novel methods of assessment using wearable sensors more broadly for neurodevelopmental disorders in general, including the importance of analytical validation. An increased understanding of the mechanistic contributions and potential biomarkers of disordered sleep may offer quantifiable targets for interventions that improve overall quality of life for affected individuals and their families.
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Trastornos del Neurodesarrollo , Trastornos del Sueño-Vigilia , Humanos , Trastornos del Sueño-Vigilia/fisiopatología , Animales , Trastornos del Neurodesarrollo/complicaciones , Síndrome de Angelman/complicaciones , Modelos Animales de Enfermedad , Trastorno del Espectro Autista/complicaciones , Investigación Biomédica Traslacional , Síndrome de Rett/complicaciones , Síndrome de Rett/genética , Síndrome de Down/complicacionesRESUMEN
OBJECTIVES: Standard sleep scoring criteria may be unreliable when applied to critically ill patients. We sought to quantify typical and atypical polysomnographic findings in critically ill patients and to begin development and reliability testing of methodology to characterize the atypical polysomnographic tracings that confound standard sleep scoring criteria. DESIGN: Prospective convenience sample. SETTING: Two academic, tertiary care medical centers. PATIENTS: Thirty-seven critically ill, mechanically ventilated, medical ICU patients. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Mechanically ventilated subjects were monitored by continuous polysomnography. After noting frequent atypical polysomnographic findings (i.e., lack of stage N2 markers, the presence of polymorphic delta, burst suppression, or isoelectric electroencephalography), attempts to use standard sleep scoring criteria alone were abandoned. Atypical polysomnographic findings were characterized and used to develop a modified scoring system. Polysomnographic data were scored manually via this revised scoring scheme. Of 37 medical ICU patients enrolled, 36 experienced atypical sleep, which accounted for 85% of all recorded data, with 5.1% normal sleep and 9.4% wake. Coupling observed patient arousal levels with polysomnographic characteristics revealed that standard polysomnographic staging criteria did not reliably determine the presence or absence of sleep. Rapid eye movement occurred in only five patients (14%). The revised scoring system incorporating frequently seen atypical characteristics yielded very high interrater reliability (weighted κ = 0.80; bootstrapped 95% CI, [0.48, 0.89]). CONCLUSIONS: Analysis of polysomnographic data revealed profound deficiencies in standard scoring criteria due to a predominance of atypical polysomnographic findings in ventilated patients. The revised scoring scheme proved reliable in sleep staging and may serve as a building block in future work.
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Electroencefalografía , Unidades de Cuidados Intensivos , Polisomnografía , Respiración Artificial , Fases del Sueño , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Monitoreo Fisiológico , Estudios Prospectivos , Muestreo , Sueño REM , VigiliaRESUMEN
ABSTRACT: Two proposed public policies, ending seasonal clock change with a transition to permanent Standard Time and moving middle school and high school start times later, are population-based initiatives to improve sleep health. Daylight Saving Time and early school start times are associated with reduced sleep duration and increased circadian misalignment, the effects of which impact not only long-term health outcomes including obesity, cerebrovascular and cardiovascular disease, and cancer, but also mental health, academics, workforce productivity, and safety outcomes. This article highlights studies that led to the endorsement of these public policies by multiple scientific and medical organizations. Neurologists should advocate at the state and federal levels and educate the population about the importance of sleep health.
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Política de Salud , Instituciones Académicas , Humanos , Sueño , Duración del Sueño , NeurólogosRESUMEN
BACKGROUND: Although polygenic scores (PGS) for autism have been related to various psychiatric and medical conditions, most studies to date have been conducted in research ascertained populations. We aimed to identify the psychiatric and physical conditions associated with autism PGS in a health care setting. METHODS: We computed PGS for 12,383 unrelated participants of African genetic ancestry (AF) and 65,363 unrelated participants of European genetic ancestry (EU) from Vanderbilt's de-identified biobank. Next, we performed phenome wide association studies of the autism PGS within these two genetic ancestries. RESULTS: Seven associations surpassed the Bonferroni adjusted threshold for statistical significance (p = 0.05/1374 = 3.6 × 10-5) in the EU participants, including mood disorders (OR (95%CI) = 1.08(1.05 to 1.10), p = 1.0 × 10-10), autism (OR (95%CI) = 1.34(1.24 to 1.43), p = 1.2 × 10-9), and breast cancer (OR (95%CI) = 1.09(1.05 to 1.14), 2.6 × 10-5). There was no statistical evidence for PGS-phenotype associations in the AF participants. Conditioning on the diagnosis of autism or on median body mass index (BMI) did not impact the strength of the reported associations. Although we observed some sex differences in the pattern of associations, there was no significant interaction between sex and autism PGS. Finally, the associations between autism PGS and autism diagnosis were stronger in childhood and adolescence, while the associations with mood disorders and breast cancer were stronger in adulthood. DISCUSSION: Our findings indicate that autism PGS is not only related to autism diagnosis but may also be related to adult-onset conditions, including mood disorders and some cancers. CONCLUSIONS: Our study raises the hypothesis that genes associated with autism may also increase the risk for cancers later in life. Future studies are necessary to replicate and extend our findings.
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Trastorno Autístico , Neoplasias , Masculino , Femenino , Humanos , Trastorno Autístico/epidemiología , Trastorno Autístico/genética , Registros Electrónicos de Salud , Herencia Multifactorial , FenotipoRESUMEN
Background: Autistic adults have high rates of co-occurring health conditions, suicide, and premature mortality, yet often experience health care barriers and poor health outcomes. A better understanding of the health care needs and experiences of autistic adults is essential for improving the health care system and patient experience. Methods: This study examined the perspectives of autistic adults regarding their health care experiences in primary care and other settings and their suggestions for improvement using both qualitative and quantitative methods. Twenty autistic adults (aged 18-35 years, 65% male) completed surveys and individual semi-structured interviews. Results: Qualitative data analysis results revealed 10 subthemes across 3 overarching themes: (1) system- and clinic-level factors affect access to care, (2) aspects of the clinic environment affect health care experiences, and (3) provider knowledge and practices affect health care experiences. Within the first theme, participants described barriers to obtaining services, including scheduling logistics, costs and inadequate insurance coverage, and transportation barriers. The second theme focused on aspects of the clinic environment that participants found especially relevant to their health care experiences and that required specific accommodations. This included sensory input, anxiety-provoking situations and procedures, and wait time. Within the third theme, participants emphasized aspects of providers' care that affected their health care experiences. Key factors included provider knowledge about autism, communication, rapport, and individualized care and patient-provider partnerships. Conclusion: Overall, the findings point to a need for provider training and improvements to the health care delivery system to better meet the unique needs of autistic adults.
Why is this an important issue?: Receiving good health care is important for health and well-being. Understanding autistic adults' perspectives on their health care experiences will help identify ways that health care services can be improved to better meet their needs and preferences in the future. What was the purpose of this study?: The purpose of this study was to learn from autistic adults about their health care needs, experiences, and suggestions for improvement. What did the researchers do?: The researchers asked autistic adults in the United States to complete a survey and participate in an interview over Zoom. The survey and interview questions asked about their experiences receiving health care services and suggestions for how to improve health care services for autistic adults. What were the results of the study?: Twenty autistic adults between the ages of 18 and 35 years participated in this study. Most participants were men (65%) and most were White (75%). The participants shared many important insights about their primary health care experiences and experiences in other health care settings. The results fell into main "themes" or ideas that people had in common. These themes are not listed in any particular order. Autistic adults described many factors that make it hard to access to care, such as getting an appointment, finding transportation, or paying for health care. They explained that the clinic environment needs to be better suited to their needs, such as having a quiet place to wait or sensory accommodations. Participants wanted their doctors to know more about autism and to be able to connect and communicate with them. They also wanted their doctors to partner with them to make sure their health care treatment plan is acceptable and understandable. What do these findings add to what was already known?: These findings show that autistic adults in the United States face many barriers in receiving health care. Some recommendations for improvement may be helpful for all patients, such as being able to book appointments online or having a doctor who does not rush you. Other improvements need to be tailored to the unique needs of autistic patients, such sensory accommodations or autism training for doctors and clinic staff. What are potential weaknesses in the study?: Because the study was small and only included adults who were able to share about their experiences during an interview, these results may not apply to all autistic adults. Another limitation is that the study was designed and carried out by non-autistic (allistic) researchers, who have different perspectives from autistic people. We asked participants to help us interpret our findings to help address this limitation. How will these findings help autistic adults in the future?: The insights from this study provide a lot of recommendations about how health care services can be improved to better meet the needs and preferences of autistic adults in the future.
RESUMEN
Autistic adults, as compared to non-autistic adults, have increased rates of nearly all medical and psychiatric conditions. Many of these conditions begin in childhood, although few longitudinal studies have been conducted to examine prevalence rates of these conditions from adolescence into early adulthood. In this study, we analyze the longitudinal trajectory of health conditions in autistic youth, compared to age and sex-matched non-autistic youth, transitioning from adolescence into early adulthood in a large integrated health care delivery system. The percent and modeled prevalence of common medical and psychiatric conditions increased from age 14 to 22 years, with autistic youth having a higher prevalence of most conditions than non-autistic youth. The most prevalent conditions in autistic youth at all ages were obesity, neurological disorders, anxiety, and ADHD. The prevalence of obesity and dyslipidemia rose at a faster rate in autistic youth compared to non-autistic youth. By age 22, autistic females showed a higher prevalence of all medical and psychiatric conditions compared to autistic males. Our findings emphasize the importance of screening for medical and psychiatric conditions in autistic youth, coupled with health education targeted at this population, to mitigate the development of adverse health outcomes in autistic adults.
Asunto(s)
Trastorno del Espectro Autista , Trastorno Autístico , Masculino , Adulto , Femenino , Humanos , Adolescente , Adulto Joven , Trastorno Autístico/epidemiología , Trastorno Autístico/psicología , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/psicología , Trastornos de Ansiedad , Ansiedad , Obesidad/epidemiologíaRESUMEN
Published self-determination programs do not adequately address the needs of autistic adults. We designed a multi-component self-determination program, grounded in the neurodiversity paradigm, to help autistic adults achieve goals to improve their quality of life. The first phase involved 5 days of psychoeducation, practice, and social events; the second phase included 3 months of telecoaching; and the third phase included follow-up. Thirty-four university students coached 31 autistic adults on three evolving goals. On average, participants completed one goal per week. Most participants were satisfied with the program. We found that the program was appropriate, acceptable, and feasible. This program is a promising approach to helping autistic adults gain self-determination skills and improve their quality of life.