Clinical signs associated with earlier diagnosis of children with autism Spectrum disorder.

BACKGROUND: The objective of this study is to gain new insights into the relationship between clinical signs and age at diagnosis. METHOD: We utilize a new, large, online survey of 1743 parents of children diagnosed with ASD, and use multiple statistical approaches. These include regression analysis, factor analysis, and machine learning (regression tree). RESULTS: We find that clinical signs that most strongly predict early diagnosis are not necessarily specific to autism, but rather those that initiate the process that eventually leads to an ASD diagnosis. Given the high correlations between symptoms, only a few signs are found to be important in predicting early diagnosis. For several clinical signs we find that their presence and intensity are positively correlated with delayed diagnosis (e.g., tantrums and aggression). Even though our data are drawn from parents' retrospective accounts, we provide evidence that parental recall bias and/or hindsight bias did not play a significant role in shaping our results. CONCLUSION: In the subset of children without early deficits in communication, diagnosis is delayed, and this might be improved if more attention will be given to clinical signs that are not necessarily considered as ASD symptoms. Our findings also suggest that careful attention should be paid to children showing excessive tantrums or aggression, as these behaviors may interfere with an early ASD diagnoses.

Neurodevelopmental outcomes in children with congenital heart disease: evaluation and management: a scientific statement from the American Heart Association.

BACKGROUND: The goal of this statement was to review the available literature on surveillance, screening, evaluation, and management strategies and put forward a scientific statement that would comprehensively review the literature and create recommendations to optimize neurodevelopmental outcome in the pediatric congenital heart disease (CHD) population. METHODS AND RESULTS: A writing group appointed by the American Heart Association and American Academy of Pediatrics reviewed the available literature addressing developmental disorder and disability and developmental delay in the CHD population, with specific attention given to surveillance, screening, evaluation, and management strategies. MEDLINE and Google Scholar database searches from 1966 to 2011 were performed for English-language articles cross-referencing CHD with pertinent search terms. The reference lists of identified articles were also searched. The American College of Cardiology/American Heart Association classification of recommendations and levels of evidence for practice guidelines were used. A management algorithm was devised that stratified children with CHD on the basis of established risk factors. For those deemed to be at high risk for developmental disorder or disabilities or for developmental delay, formal, periodic developmental and medical evaluations are recommended. A CHD algorithm for surveillance, screening, evaluation, reevaluation, and management of developmental disorder or disability has been constructed to serve as a supplement to the 2006 American Academy of Pediatrics statement on developmental surveillance and screening. The proposed algorithm is designed to be carried out within the context of the medical home. This scientific statement is meant for medical providers within the medical home who care for patients with CHD. CONCLUSIONS: Children with CHD are at increased risk of developmental disorder or disabilities or developmental delay. Periodic developmental surveillance, screening, evaluation, and reevaluation throughout childhood may enhance identification of significant deficits, allowing for appropriate therapies and education to enhance later academic, behavioral, psychosocial, and adaptive functioning.

Suicide Risk Screening in Pediatric Outpatient Neurodevelopmental Disabilities Clinics.

OBJECTIVE: The purpose of this study was to describe the implementation of universal suicide risk screening in pediatric neurodevelopmental disabilities (NDD) medical clinics, analyze demographic and clinical characteristics of eligible patients, describe outcomes of positive screenings, and describe factors that influenced participation in screenings. METHODS: A suicide risk screening protocol was developed and implemented for medical clinic patients aged 8 to 18 years. Registered nurses screened patients using the "Ask Suicide-Screening Questions" tool during triage. Positive screenings were referred for further assessment and mental health management. Demographics and clinical data were extracted from medical records using retrospective chart reviews. RESULTS: During the 6-month study period, 2961 individual patients presented for 5260 screening eligible patient visits. In total, 3854 (73.3%) screenings were completed with 261 (6.8%) positive screenings noted. Screenings were declined in 1406 (26.7%) visits. Parents of children with cognitive impairments were more likely to decline screening. Clinics serving children with autism spectrum disorder had higher rates of positive screenings compared with all other clinic attendees. Seventy-two of 187 children (38.5%) with positive screenings were identified and referred to outpatient mental health referrals. Seven (2.5%) of these children required acute psychiatric treatment. CONCLUSION: Routine screening, identification of increased suicide risk, and referral to mental health care among children with NDD are feasible. It remains unclear whether variation in rates among youth with and without NDD may indicate true differences in suicide risk or cognitive impairments or reflect psychiatric comorbidities. High rates of declined participation may have influenced identification of children with NDD and suicide risk. Preliminary findings identified groups of children with NDD at heightened risk for suicidal ideation and behavior. Further research is needed to assess the validity of suicide risk screening tools in children with neurodevelopmental disorders.

Evidence-Informed Milestones for Developmental Surveillance Tools.

The Centers for Disease Control and Prevention's (CDC) Learn the Signs. Act Early. program, funded the American Academy of Pediatrics (AAP) to convene an expert working group to revise its developmental surveillance checklists. The goals of the group were to identify evidence-informed milestones to include in CDC checklists, clarify when most children can be expected to reach a milestone (to discourage a wait-and-see approach), and support clinical judgment regarding screening between recommended ages. Subject matter experts identified by the AAP established 11 criteria for CDC milestone checklists, including using milestones most children (≥75%) would be expected to achieve by specific health supervision visit ages and those that are easily observed in natural settings. A database of normative data for individual milestones, common screening and evaluation tools, and published clinical opinion was created to inform revisions. Application of the criteria established by the AAP working group and adding milestones for the 15- and 30-month health supervision visits resulted in a 26.4% reduction and 40.9% replacement of previous CDC milestones. One third of the retained milestones were transferred to different ages; 67.7% of those transferred were moved to older ages. Approximately 80% of the final milestones had normative data from ≥1 sources. Social-emotional and cognitive milestones had the least normative data. These criteria and revised checklists can be used to support developmental surveillance, clinical judgment regarding additional developmental screening, and research in developmental surveillance processes. Gaps in developmental data were identified particularly for social-emotional and cognitive milestones.

Pandemic intake questionnaire to improve quality, effectiveness, and efficiency of outpatient neurologic and developmental care at the Kennedy Krieger institute during the COVID-19 pandemic.

Background: The COVID-19 pandemic uniquely affects patients with neurologic and developmental disabilities at the Kennedy Krieger Institute. These patients are at increased risk of co-morbidities, increasing their risk of contracting COVID-19. Disruptions in their home and school routines, and restrictions accessing crucial healthcare services has had a significant impact. Methods: A Pandemic Intake questionnaire regarding COVID-19 related medical concerns of guardians of patients was distributed using Qualtrics. Data from May-December 2020 were merged with demographic information of patients from 10 clinics (Center for Autism and Related Disorders (CARD), Neurology, Epigenetics, Neurogenetics, Center for Development and Learning (CDL) Sickle Cell, Spinal Cord, Sturge-Weber syndrome (SWS), Tourette's, and Metabolism). A provider feedback survey was distributed to program directors to assess the effectiveness of this intervention. Results: Analysis included responses from 1643 guardians of pediatric patients (mean age 9.5 years, range 0-21.6 years). Guardians of patients in more medically complicated clinics reported perceived increased risk of COVID-19 (p < 0.001) and inability to obtain therapies (p < 0.001) and surgeries (p < 0.001). Guardian responses from CARD had increased reports of worsening behavior (p = 0.01). Providers increased availability of in-person and virtual therapies and visits and made referrals for additional care to address this. In a survey of medical providers, five out of six program directors who received the responses to this survey found this questionnaire helpful in caring for their patients. Conclusion: This quality improvement project successfully implemented a pre-visit questionnaire to quickly assess areas of impact of COVID-19 on patients with neurodevelopmental disorders. During the pandemic, results identified several major areas of impact, including patient populations at increased risk for behavioral changes, sleep and/or disruptions of medical care. Most program directors reported improved patient care as a result.

Learning disabilities and school failure.

After completing this article, readers should be able to:1. Articulate a systematic medical approach to the child who has school failure or suspected learning disability.2. Compare and contrast learning disability from other related conditions that may affect a child's school function.3. Identify key historic factors recognized during developmental surveillance for children who have learning disabilities.4. List key school and community resources for advising parents about the evaluation,treatment, and prognosis of a child who has a learning disability.5. Outline a medical home management plan for children who have learning disabilities.

Information Avoidance and Information Seeking Among Parents of Children With ASD.

We estimated the effects of information avoidance and information seeking among parents of children diagnosed with autism spectrum disorder (ASD) on age of diagnosis. An online survey was completed by 1,815 parents of children with ASD. Children of parents who self-reported that they had preferred "not to know," reported diagnoses around 3 months later than other children. Children of parents who raised concerns that they perceived as having been dealt with adequately reported diagnoses about 4 months earlier, but the children of parents who reported raising concerns repeatedly and felt that those concerns were dealt with inadequately were diagnosed over a year later. These findings suggest that failure of educational and healthcare professionals, in either substituting for parents who avoid information, or supporting those who seek information, can significantly delay the age of diagnosis.

Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM.

Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, often result in neonatal diabetes. Patients with this mutation have been successfully transitioned from insulin to sulfonylurea (SU) therapy without compromise in their glycemic control. Among patients with neonatal diabetes due to KCNJ11 mutations, approximately 25% have neurological findings including developmental delay, motor dysfunction, and epilepsy, known as DEND syndrome. There have been rare cases of juvenile patients with intermediate DEND syndrome (iDEND) reporting variable improvement in neurological function following transition from insulin to SU treatment. We describe the response to glyburide in a 15-yr-old boy with severe global developmental delays resulting from the KCNJ11 mutation V59M. The patient was discovered to have diabetes mellitus at 11.5 months of age, making this the oldest age at diagnosis of a KCNJ11 mutation-related case of neonatal diabetes. Because consensus has been to screen patients for this mutation only if younger than 6 months at the time of diagnosis, we suggest that all patients under the age of 12 months at diagnosis should receive genetic testing for monogenic causes of diabetes.

Promoting Optimal Development: Identifying Infants and Young Children With Developmental Disorders Through Developmental Surveillance and Screening.

Early identification and intervention for developmental disorders are critical to the well-being of children and are the responsibility of pediatric professionals as an integral function of the medical home. This report models a universal system of developmental surveillance and screening for the early identification of conditions that affect children's early and long-term development and achievement, followed by ongoing care. These conditions include autism, deafness/hard-of-hearing, intellectual and motor disabilities, behavioral conditions, and those seen in other medical conditions. Developmental surveillance is supported at every health supervision visit, as is as the administration of standardized screening tests at the 9-, 18-, and 30-month visits. Developmental concerns elicited on surveillance at any visit should be followed by standardized developmental screening testing or direct referral to intervention and specialty medical care. Special attention to surveillance is recommended at the 4- to 5-year well-child visit, prior to entry into elementary education, with screening completed if there are any concerns. Developmental surveillance includes bidirectional communication with early childhood professionals in child care, preschools, Head Start, and other programs, including home visitation and parenting, particularly around developmental screening. The identification of problems should lead to developmental and medical evaluations, diagnosis, counseling, and treatment, in addition to early developmental intervention. Children with diagnosed developmental disorders are identified as having special health care needs, with initiation of chronic condition management in the pediatric medical home.

Elopement Patterns and Caregiver Strategies.

The Interactive Autism Network (IAN) administered a survey to caregivers of children with Autism Spectrum Disorder (ASD) on their interventions for elopement behavior (EB). Data from 526 respondents were analyzed. Most families reported multiple interventions for EB and rated interventions overall as effective but burdensome. Several interventions such as fencing and window locks had favorable effectiveness/burden profiles. Tracking devices were used infrequently and rated as having low effectiveness. Behavioral specialists were commonly used, rated as effective, and most often provided by insurance. Medications were rated as having low effectiveness for EB, whether taken off-label for EB or for other reasons. Further study is needed to identify EB interventions that are effective, affordable, and easy to implement are needed.

Trends in Pediatricians' Developmental Screening: 2002-2016.

BACKGROUND: Current guidelines from the American Academy of Pediatrics recommend screening children for developmental problems by using a standardized screening tool and referring at-risk patients to early intervention (EI) or subspecialists. Adoption of guidelines has been gradual, with research showing many children still not being screened and referred. METHODS: We analyzed American Academy of Pediatrics Periodic Survey data from 2002 (response rate = 58%; N = 562), 2009 (response rate = 57%; N = 532), and 2016 (response rate = 47%, N = 469). Surveys included items on pediatricians' knowledge, attitudes, and practices regarding screening and referring children for developmental problems. We used descriptive statistics and a multivariable logistic regression model to examine trends in screening and referral practices and attitudes. RESULTS: Pediatricians' reported use of developmental screening tools increased from 21% in 2002 to 63% in 2016 (P < .001). In 2016, on average pediatricians reported referring 59% of their at-risk patients to EI, up from 41% in 2002 (P < .001), and pediatricians in 2016 were more likely than in 2002 to report being "very likely" to refer a patient with global developmental delay, milestone loss, language delay, sensory impairment, motor delays, and family concern to EI. CONCLUSIONS: Pediatricians' reported use of a standardized developmental screening tool has tripled from 2002 to 2016, and more pediatricians are self-reporting making referrals for children with concerns in developmental screening. To sustain this progress, additional efforts are needed to enhance referral systems, improve EI programs, and provide better tracking of child outcomes.

Improving Behavior Challenges and Quality of Life in the Autism Learning Health Network.

OBJECTIVES: To summarize baseline data and lessons learned from the Autism Learning Health Network, designed to improve care and outcomes for children with autism spectrum disorder (ASD). We describe challenging behaviors, co-occurring medical conditions, quality of life (QoL), receipt of recommended health services, and next steps. METHODS: A cross-sectional study of children 3 to 12 years old with ASD receiving care at 13 sites. Parent-reported characteristics of children with ASD were collected as outcome measures aligned with our network's aims of reducing rates of challenging behaviors, improving QoL, and ensuring receipt of recommended health services. Parents completed a survey about behavioral challenges, co-occurring conditions, health services, and the Patient-Reported Outcomes Measurement Information System Global Health Measure and the Aberrant Behavior Checklist to assess QoL and behavior symptoms, respectively. RESULTS: Analysis included 530 children. Challenging behaviors were reported by the majority of parents (93%), frequently noting attention-deficit/hyperactivity disorder symptoms, irritability, and anxiety. Mean (SD) scores on the Aberrant Behavior Checklist hyperactivity and irritability subscales were 17.9 (10.5) and 13.5 (9.2), respectively. The Patient-Reported Outcomes Measurement Information System Global Health Measure total score of 23.6 (3.7) was lower than scores reported in a general pediatric population. Most children had received recommended well-child (94%) and dental (85%) care in the past 12 months. CONCLUSIONS: This baseline data (1) affirmed the focus on addressing challenging behaviors; (2) prioritized 3 behavior domains, that of attention-deficit/hyperactivity disorder, irritability, and anxiety; and (3) identified targets for reducing severity of behaviors and strategies to improve data collection.

Promoting reading in children: do reading practices differ in children with developmental problems?

OBJECTIVE: The objective of this study was to describe and compare reading practices in caregivers of children with developmental/behavioral problems (DEV) to caregivers of children without developmental problems attending a general pediatric clinic (GEN). METHOD: Cross-sectional, convenience samples of 321 caregivers of DEV and GEN children self-report reading practices including amount of daytime and nighttime reading, TV viewing, and number of books in the house. Reading 4 or more days per week is the primary outcome. Multivariate logistic regression analysis was used to compare reading 4 or more days per week with specific predictors. Odds ratios and 95% confidence intervals were reported. RESULTS: Three hundred and twenty-one caregivers participated in the study (DEV 204, GEN 117). Mean number of books in home (51.1+/-49.9), TV viewing hours per day (2.6+/-2.0), and days or nights read per week (days, 4.9+/-2.1; nights, 4.0+/-2.4) did not differ by group. Caregivers reporting incomes at 200% above the federal poverty level (FPL) were more likely to engage in reading more than 4 days per week (odds ratio 5.32; 95% confidence intervals, 1.19, 23.81) after controlling for developmental status, caregiver education and age, and frequency of television viewing. CONCLUSION: Positive home reading practices were predicted by FPL in children with and without developmental or behavioral problems and while controlling for child group status (DEV or GEN), caregiver education and age, and amount of TV viewing. Reading promotion programs should focus on children from low socioeconomic environments regardless of disability risk status.

Epilepsy and Autism Severity: A Study of 6,975 Children.

Epilepsy is known to occur in a higher-than-expected proportion of individuals with autism spectrum disorders (ASDs). Prior studies of this heterogeneous disorder have suggested that intelligence quotient (IQ) may drive this relationship. Because intellectual disability (ID) is, independently of ASD, a risk factor for epilepsy, current literature calls into question the long-understood unique relationship between ASD and epilepsy. Second, data have been unclear about whether developmental regression in ASD is associated with epilepsy. Using two cohorts from an online research registry, totaling 6,975 children with ASD, we examined the independent role of four ASD severity measures in driving the relationship with epilepsy: ID, language impairment, core ASD symptom severity, and motor dysfunction, controlling for two known relevant factors: age and sex. We also examined whether developmental regression and epilepsy have an independent statistical link. All four ASD severity factors showed independent statistical associations with epilepsy in one cohort, and three in the other. ID showed the largest relative risk (RR) in both cohorts. Effect sizes were modest. Regression similarly showed an independent statistical association with epilepsy, but with small effect size. Similar to previous work, ID showed the greatest contribution to RR for epilepsy among children with ASD. However, other ASD severity markers showed statistical associations, demonstrating that the ASD-epilepsy association is not reducible to the effect of ID. Inconsistencies in the literature may be due to underpowered studies, yet moving forward with larger-n studies, clinical significance and scientific relevance may be dictated by effect size and not merely statistical significance. Autism Res 2019, 12: 1251-1259. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Epilepsy is known to occur more often in individuals with autism spectrum disorders (ASDs) than is the case in the general population. The association between ASD and epilepsy is of interest because studying the two disorders in combination may help advance our understanding of genetic, molecular, and cellular mechanisms-as well as therapies-for both. Recent studies have suggested that intelligence quotient (IQ) alone in individuals with ASD may account for the increased prevalence of epilepsy. However, our approach was to look at a range of severity factors relevant to ASD and to look for correlations between each severity factor and epilepsy, within two large samples of children with ASD. In summary, we found that each severity factor-presence of intellectual disability, presence of language atypicalities, ASD-specific symptoms severity, and presence of motor issues-independently predicted a small increased risk for epilepsy, countering the argument that IQ alone is a risk factor. We also examined whether epilepsy is associated with developmental regression. Although severe epilepsy syndromes such as Landau-Kleffner syndrome are known to cause autistic-like symptoms following developmental regression, there is controversy about whether other forms of epilepsy are associated with the more common developmental regression seen in many young children with epilepsy. Indeed, we found a small association between epilepsy and developmental regression.

Suicidal Thoughts and Behaviors Among Children and Adolescents With Autism Spectrum Disorder.

This survey study uses data from the Mental Health and Suicidal Behaviors Questionnaire to examine the age at onset of suicidal thoughts and behaviors among children and adolescents aged 8 to 17 years who have been diagnosed with autism spectrum disorder (ASD).

Anxiety and Mood Disorder in Children With Autism Spectrum Disorder and ADHD.

OBJECTIVES: Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) frequently co-occur. Understanding the endophenotype of children with both ASD and ADHD may impact clinical management. In this study, we compare the comorbidity of anxiety and mood disorders in children with ASD, with and without ADHD. METHODS: We performed a cross-sectional study of children with ASD who were enrolled in the Interactive Autism Network, an Internet-mediated, parent-report, autism research registry. Children ages 6 to 17 years with a parent-reported, professional, and questionnaire-verified diagnosis of ASD were included. Data were extracted regarding parent-reported diagnosis and/or treatment of ADHD, anxiety disorder, and mood disorder. ASD severity was measured by using Social Responsiveness Scale total raw scores. RESULTS: There were 3319 children who met inclusion criteria. Of these, 1503 (45.3%) had ADHD. Comorbid ADHD increased with age (P < .001) and was associated with increased ASD severity (P < .001). A generalized linear model revealed that children with ASD and ADHD had an increased risk of anxiety disorder (adjusted relative risk 2.20; 95% confidence interval 1.97-2.46) and mood disorder (adjusted relative risk 2.72; 95% confidence interval 2.28-3.24) compared with children with ASD alone. Increasing age was the most significant contributor to the presence of anxiety disorder and mood disorder. CONCLUSIONS: Co-occurrence of ADHD is common in children with ASD. Children with both ASD and ADHD have an increased risk of anxiety and mood disorders. Physicians who care for children with ASD should be aware of the coexistence of these treatable conditions.

Large Databases for Pediatric Research on Children with Autism Spectrum Disorder.

OBJECTIVE: This article reviews the data available in 3 large databases for use in conducting studies of children with autism spectrum disorder (ASD). METHODS: The article describes the data structure, data elements, and strengths and weaknesses of the 3 data sets. RESULTS: Each of the 3 data sets, the Interactive Autism Network (IAN), the Autism Treatment Network (ATN), and PEDSnet have large cohorts of children with ASD. IAN has strengths in patient-reported measures, ATN in clinical characterization, and PEDSnet in health care encounters and electronic medical record data. CONCLUSION: The data sets described here have potential for further studies that could help improve the care and well-being of children with ASD and their families.