Using phecode analysis to characterize co-occurring medical conditions in autism spectrum disorder.
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ABSTRACT: Lay abstract
People with autism spectrum disorder often have a number of other medical conditions in addition to autism. These can range from constipation to epilepsy. This study uses medical record data to understand how frequently and how long people with autism have to be seen by a medical professional for these other medical conditions. This study confirmed that people with autism often have a number of other medical conditions and that they have to go see a medical professional about those conditions often. We also looked to see if children diagnosed with autism after age 5 years might have different medical conditions compared to children diagnosed earlier. Children diagnosed later had more conditions like asthma, hearing loss, and mood disorders. This work describes how much medical care people with autism get for different medical conditions and the burden of seeking additional medical care for people with autism and their families.
SUBMITTER: Failla MD
PROVIDER: S-EPMC7854773 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
Publications
Using phecode analysis to characterize co-occurring medical conditions in autism spectrum disorder.
Failla Michelle D MD Schwartz Kyle L KL Chaganti Shikha S Cutting Laurie E LE Landman Bennett A BA Cascio Carissa J CJ
Autism : the international journal of research and practice 20200714 3
<h4>Lay abstract</h4>People with autism spectrum disorder often have a number of other medical conditions in addition to autism. These can range from constipation to epilepsy. This study uses medical record data to understand how frequently and how long people with autism have to be seen by a medical professional for these other medical conditions. This study confirmed that people with autism often have a number of other medical conditions and that they have to go see a medical professional abou ...[more]
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Project description:Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorders (ASD) are two of the most represented neurodevelopmental conditions in childhood. The diagnostic shift introduced by the DSM-5, allowing a combined diagnosis of ADHD and ASD, poses different clinical challenges related to diagnostic overshadowing, accuracy of clinical judgment and potential delay in an ASD diagnosis in children presenting with ADHD. Here we tried to disentangle the clinical phenotype and specificity of the two co-occurring conditions in relation to autism traits and empathy, by comparing children with ASD with and without comorbid ADHD with children presenting ADHD only and children with typical development. The child versions of the Autism Quotient (C-AQ) and Empathy Quotient (C-EQ) were administered to a total sample of 198 male children between 6 and 14 years old with age appropriate language skills and normal intelligence. Univariate analysis demonstrated no significant differences in the C-AQ total and subscale scores as well as the C-EQ between children with ASD and children with ASD + ADHD, while children with ADHD alone presented an intermediate phenotype between ASD and TD. Furthermore, a receiver operating characteristic (ROC) analysis was applied to discriminate among the different phenotypes. We found that the C-AQ and C-EQ were accurate at distinguishing with satisfactory reliability between: (a) ASD vs. non- ASD (N-ASD) groups comprising both ADHD and TD children (Area Under the Curve AUC 88% for C-AQ and 81% for C-EQ); (b) ASD and TD (AUC 92% for C-AQ and 95% for C-EQ); (c) ASD and ADHD (AUC 80% for C-AQ and 68% for C-EQ). Our data confirm the reliability of the C-AQ and C-EQ as behavioral markers to differentiate ASD (regardless of comorbid ADHD) from an ADHD condition and TD. Interestingly, in our sample an ADHD condition does not increase the severity of the clinical phenotype in terms of autism traits distribution and empathy, suggesting that the psychological measures detected by the two quantitative instruments are independent of ADHD traits. This evidence will contribute to the translational efforts in developing better tailored treatments and preventive strategies.
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Project description:Evidence suggests that autistic adults have higher odds of developing several co-occurring conditions, but less is known about disparities by race and ethnicity in this population. Using 2008-2012 Medicaid Analytic eXtract (MAX) data, we (i) identify the prevalence of co-occurring conditions among the population of autistic adult Medicaid beneficiaries compared to a matched sample of those without an autism spectrum disorder (ASD) diagnosis, (ii) conduct logistic regression to estimate odds ratios for these health conditions predicted by an autism diagnosis, and (iii) estimate odds of having these health conditions as predicted by racial/ethnic group among the autistic population only. Overall, autistic adults did not have higher prevalence of some major health conditions (cardiovascular conditions, stroke, cancer, cardiovascular disease), but they did have higher odds of others (nutrition conditions, epilepsy, disorders of the central nervous system). Analysis by racial/ethnic group, however, shows that Black, Hispanic, and Asian autistic beneficiaries had higher odds of diabetes, hospitalized cardiovascular diseases, and hypertension, among other conditions. Policymakers should be aware that racial disparities found in the general population persist in the autistic population and should work to implement systems and programs to improve screening and preventive care for minority autistic populations. LAY SUMMARY: Autistic adults may have several co-occurring physical and mental health conditions, which could differ by racial/ethnic group. We find that, compared to the general Medicaid population, autistic adult Medicaid beneficiaries have elevated odds of some health conditions, like epilepsy and nutrition conditions, as well as some psychiatric conditions, such as anxiety and attention disorders. We also find that many of the same health disparities by racial/ethnic group in the general population persist among the autistic adult Medicaid population. For example, Black, Hispanic, and Asian Medicaid autistic beneficiaries have higher odds of diabetes, and Black and Hispanic autistic beneficiaries have higher odds of obesity and nutrition conditions than white autistic beneficiaries.
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Project description:Gastrointestinal (GI) symptoms are frequently reported in children with autism spectrum disorder (ASD). We evaluated the frequency and severity of GI symptoms in preschool-aged children with ASD compared to participants with typical development (TD). Our goal was to ascertain whether GI symptoms are associated with differences in sex or developmental and behavioral measures. Participants were between 2 and 3.5 years of age and included 255 children with ASD (184 males/71 females) and 129 age-matched TD controls (75 males/54 females). A parent interview was used to assess GI symptoms (abdominal pain, gaseousness/bloating, diarrhea, constipation, pain on stooling, vomiting, difficulty swallowing, blood in stool or in vomit). Children with GI symptoms in each diagnostic group were compared to children without GI symptoms on measures of developmental, behavioral, and adaptive functioning. GI symptoms were reported more frequently in children with ASD compared to the TD group (47.8% vs. 17.8%, respectively). Children with ASD were also more likely to experience multiple GI symptoms (30.6% vs. 5.4%). GI symptoms were equally common in males and females across both diagnostic groups. There were no statistically significant differences in developmental or adaptive measures based on presence of GI symptoms in either ASD or TD children. Co-occurring GI symptoms were, however, associated with increased self-injurious behaviors, restricted stereotyped behaviors, aggressive behaviors, sleep problems and attention problems in both ASD and TD children. In children with ASD, a higher number of GI symptoms was associated with an increase in self-injurious behaviors, somatic complaints, reduced sleep duration, and increased parasomnias. LAY SUMMARY: ASD is characterized by challenges in social communication and repetitive behaviors. But, people with autism have many other difficulties including gastrointestinal problems. Children with ASD were three times more likely to experience GI symptoms than typically developing peers. Increased GI symptoms are associated with increased problem behaviors such as sleep problems, self-injury, and body aches. Since GI symptoms are often treatable, it is important to recognize them as soon as possible. Both clinicians and parents should become more aware of the high occurrence of GI problems in autistic people. Autism Res 2020, 13: 1778-1789. © 2020 International Society for Autism Research and Wiley Periodicals LLC.
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