Timing Of Autism Spectrum Disorder Diagnosis Research Articles

Late diagnosis of autism spectrum disorder-Journey, parents' concerns, and sex influences.

Despite increasing awareness for diagnosing autism spectrum disorder (ASD) and initiating treatments early in life, many children and adolescents continue to be diagnosed at a relatively older age. Focusing on children who first received an ASD diagnosis at age six or older, this study aimed to describe the symptoms that parents reported when ASD was diagnosed, follow the patients' clinical trajectory prior to receiving the diagnosis, and describe differences in symptoms and prior diagnoses between males and females cases. We included 258 children (205 males and 53 females) who were first diagnosed with autism at age 6-18 in 2017-2018. We retrieved demographic information, neurologic and developmental symptoms, diagnoses, and medications dispensing history from the children's electronic medical charts. The data indicated that prior diagnoses of language delays and attention deficit hyperactivity disorder were common among children with a late ASD diagnosis. Two thirds of the children were prescribed one or more medications to treat psychosocial and behavioral conditions before receiving a late ASD diagnosis. Difficulties in social relationships with peers were the leading reported symptoms by parents at the time of ASD diagnosis. Across these different domains, some differences were found between males and females, including a somewhat higher cognitive level in males, who were also more likely to present aggressive behavior.

Middle-childhood executive functioning mediates associations between early-childhood autism symptoms and adolescent mental health, academic and functional outcomes in autistic children.

BackgroundExecutive functioning (EF) varies in children with autism spectrum disorder (ASD) and is associated with clinical symptoms, academic, and adaptive functioning. Here, we examined whether middle‐childhood EF mediates associations between early‐childhood autism symptoms and adolescent outcomes in children with ASD.MethodsThe Pathways in ASD Cohort comprising children recruited at the time of ASD diagnosis (at 2–4 years‐of‐age) and followed prospectively across eight subsequent timepoints over ~10 years was used. A subset of Pathways participants (n = 250) with Behavior Rating Inventory of Executive Function (BRIEF)‐Parent Form data from at least one timepoint when participants were school‐aged was analyzed. A mediation framework was used to examine whether BRIEF‐measured EF across age 7–10 years (middle‐childhood) mediated associations between early‐childhood autism symptoms (measured using the parent‐report Social Responsiveness Scale across age 2–6 years) and clinical, academic, and functional outcomes, indexed at age >10–11.8 years (early‐adolescence) using the Child Behavior Checklist (CBCL)‐Internalizing and Externalizing Scales, Academic Performance from the Teacher's Report Form, and Vineland Adaptive Behavior Scales. Models were rerun substituting clinician‐rated and teacher‐rated measures, where possible.ResultsMediation models indicated a significant indirect effect of middle‐childhood EF on associations between early‐childhood autism symptoms and externalizing behavior, academic performance, or adaptive functioning in early adolescence; kappa squared (κ2) effect sizes ranged from large to small. Model findings were stable across raters. Middle‐childhood EF did not mediate associations between early‐childhood autism symptoms and adolescent internalizing behavior.ConclusionsAmong children with an ASD diagnosis, middle‐childhood EF may be one pathway through which early‐childhood autism symptoms influence a variety of outcomes in early‐adolescence. An experimental study targeting middle‐childhood EF to improve adolescent academic, emotional/behavioral, and adaptive functioning is needed to evaluate the clinical meaningfulness of these findings.

Assessing Caregiver Stress and Coping at Time of Autism Spectrum Disorder Diagnosis

Research and practice emphasize the importance of family involvement in early intervention for children with autism spectrum disorder (ASD). However, in order to address the unique and diverse challenges of families, support and resources may need to be prescribed on a case-by-case basis. This article suggests ways early intervention programs can assess parent stress, self-efficacy and disability specific knowledge at time of ASD diagnosis to inform family centered intervention programs with attention to individualized support for children with ASD and their families. A variety of assessment tools are provided with rationale for their use of results to inform program intervention and service plans for families of young children with ASD.

Investigating associations between birth order and autism diagnostic phenotypes.

Birth order effects have been linked to variability in intelligence, educational attainment and sexual orientation. First- and later-born children have been linked to an increased likelihood of an Autism Spectrum Disorder (ASD) diagnosis, with a smaller body of evidence implicating decreases in cognitive functioning with increased birth order. The present study investigated the potential association between birth order and ASD diagnostic phenotypes in a large and representative population sample. Data were obtained from an ongoing prospective diagnostic registry, collected between 1999 and 2017, including children (1-18years of age, n=5,404) diagnosed with ASD in the state of Western Australia. Children with ASD were ranked relative to sibling's birth to establish birth order within families at time of ASD diagnosis. Information reported to the registry by health professionals at the time of diagnostic evaluation included demographic and family characteristics, functional abilities and intellectual capacity. Adaptive functioning and intelligence scores decreased with increasing birth order, with later-born children more likely to have an intellectual disability. Compared to first-born children with siblings, first-born children without siblings at the time of diagnosis also exhibited decreased cognitive functioning. These findings demonstrate for the first time an association between increasing birth order and variability in ASD clinical phenotypes at diagnosis, with potential evidence of reproductive curtailment in children without siblings. Taken together, these findings have significant implications for advancing understanding about the potential mechanisms that contribute to heterogeneity in ASD clinical presentations as a function of birth order and family size.

Repetitive Behavior Severity as an Early Indicator of Risk for Elevated Anxiety Symptoms in Autism Spectrum Disorder

A significant proportion of children with autism spectrum disorder (ASD) will develop an anxiety disorder during childhood. Restricted and repetitive behavior severity in ASD positively correlates with anxiety severity in cross-sectional surveys. The longitudinal relationship between restricted/repetitive behavior and future anxiety symptoms is unclear. In a longitudinal cohort of children with ASD (n= 421), restricted/repetitive behavior severity at enrollment (age 2-5 years) was categorized as "mild," "moderate," or "severe" using the Autism Diagnostic Interview-Revised. Elevated anxiety symptoms were defined by a Child Behavior Checklist (parent report) Anxiety subscale T-score of >65 at ages 8 to 11 years. Multivariable logistic regression with multiple imputation for missing data was used to examine the association between restricted/repetitive behavior severity and elevated anxiety symptoms while adjusting for age, sex, adaptive functioning, baseline anxiety, income, and parenting stress, generating adjusted odds ratios (aORs) and 95% CIs. Approximately 58% of children with severe restricted/repetitive behavior at enrollment had elevated anxiety symptoms by age 11, compared to 41% of those with moderate, and 20% of those with mild restricted/repetitive behavior, respectively. Moderate and severe restricted/repetitive behavior were both associated with increased odds of elevated anxiety (moderate aOR: 2.5 [1.2-5.3]; severe aOR: 3.2 (1.4-7.5]). Restricted/repetitive behavior severity at time of ASD diagnosis indicates risk for future anxiety symptoms. This finding increases our understanding of which children with ASD will develop anxiety disorders and may guide research concerning early interventions and etiological mechanisms.

EEG endophenotypes in autism spectrum disorder

ObjectivesThe association between autism spectrum disorder (ASD) and epilepsy is well-known. Abnormalities on electroencephalography (EEG) results have been reported in patients with ASD without a history of seizures. However, little is known about the relationship between abnormalities on EEG results and the core features of ASD. The purpose of the study was to determine the relationship between the presence of epilepsy and/or abnormalities on EEG results and disease-associated impairments in young children with ASD. MethodsData were collected from medical records at Cincinnati Children's Hospital Medical Center (CCHMC) of patients with well-characterized ASD. Patients were subdivided into three groups: ASD without epilepsy but with abnormal EEG results, ASD without epilepsy and normal EEG results, and ASD with epilepsy. Developmental (Mullen Scales of Early Learning (MSEL)), adaptive (Vineland Adaptive Behavior Scales (VABS)), behavioral (Child Behavior Checklist), and language (Preschool Language Scales (PLS)) assessments, along with birth and developmental histories, medications, and medical comorbidities were collected. Electroencephalography data were abstracted from reports and included presence, characterization, and location of abnormalities. ResultsAnalysis was performed on 443 patients with ASD. Seventy patients (15.8%) had epilepsy at the time of ASD diagnosis. Out of 372 patients with ASD and no epilepsy, 95 (25.5%) had an abnormal EEG result (67.4% epileptiform, 36.8% other abnormalities). Majority of epileptiform discharges were focal (83%) and most commonly seen in the left temporal region. The group with abnormal EEG results exhibited more impaired adaptive functioning when compared with the group with normal EEG results (p < 0.05). The group with abnormal EEG results was more similar to the group with epilepsy, differing only in expressive language (p < 0.01) and fine motor (p < 0.05) skills on the Mullen Scales. The group with epilepsy exhibited lower scores in all areas of developmental and adaptive functioning compared with the group with normal EEG results (p < 0.05). At the time of analysis, 13 patients (8 in the group with abnormal EEG results, 5 in the group with normal EEG results) developed epilepsy at a mean age of 10.5 years ± 3.3 years. ConclusionsThe presence of an abnormal EEG result or epilepsy in the setting of ASD suggests worse developmental and adaptive functioning. Further analysis will help to clarify associations and offer insight into treatment for this subpopulation without epilepsy but with abnormal EEG results.

Developmental functioning and symptom severity influence age of diagnosis in Canadian preschool children with autism.

Early diagnosis of autism spectrum disorder (ASD) is essential in most Canadian jurisdictions to access interventions that improve long-term child outcomes. Our main objective was to identify factors associated with timing of ASD diagnosis in five provinces across Canada. Factors influencing age of diagnosis were assessed in the analyses of an inception cohort of children diagnosed with ASD between ages 2 and 5 years. We examined bivariate associations and using a series of multiple variable regression models, evaluated the unique contributions of developmental functioning, ASD symptoms and demographic variables. Children with known genetic abnormalities, or severe sensory or motor impairments interfering with assessment were excluded. Participants were 421 children (84.6% boys). The mean age of diagnosis was 38.2 months (SD=8.7), an average of 19 months after parents identified initial concerns. Factors associated with later diagnosis included more advanced language and cognitive skills, and higher levels of restricted repetitive behaviour symptoms. Child sex and family demographics were not associated with age of diagnosis. In regression analyses, language and cognitive skills accounted for 6.8% of variance in age of diagnosis and ASD symptoms contributed an additional 5.5%. Provincial site accounted for 4.0% of variance in age of diagnosis, independent of developmental skills and ASD symptoms. Diagnosis of ASD occurred, on average, 19 months after parents' initial concerns. Language and cognitive skills, symptom severity and provincial site accounted for variation in age of ASD diagnosis in this Canadian cohort. Variable presentation across the developmental continuum must be considered in planning assessment services to ensure timely ASD diagnosis so that outcomes can be improved. Policy and practice leadership is also needed to reduce interprovincial variability.

Utility of the Vineland Adaptive Behavior Scales in Predicting Future Cognitive Function in Children with Autism Spectrum disorders

Objective: Literature shows that cognitive function of a child with autism spectrum disorder (ASD) is positively associated with later outcomes. However, developmental and cognitive assessments have not been consistently completed at the time of diagnosis in many clinical settings. It is uncertain whether a standardized parent adaptive questionnaire will help predict later cognitive functioning. This study explored the utility of a standardized questionnaire in predicting future cognitive functioning in children with ASD. Method: Children aged 24 to 59 months consecutively diagnosed with ASD from January 2011 to October 2013, and had a cognitive assessment completed at a later time point, were included in the study (N=113). Descriptive data on demographic characteristics, Autism Diagnostic Observation Schedule (ADOS) scores, Vineland Adaptive Behavior Scales-II (VABS-II) standard scores at the time of ASD diagnosis and later cognitive scores of the cohort were presented. VABS-II standard scores at the time of diagnosis were used to predict best estimate nonverbal cognitive scores using linear regression models, after controlling for gender, race, age at diagnosis, and ADOS scores. Results: In this cohort, 88.5% were boys and the mean age of diagnosis was 48.4 months. The adaptive behaviour profile of the study population showed motor skills>communication>daily living>socialization skills, consistent with previous studies on verbal children with ASD. The VABS-II adaptive behaviour composite score and all the VABS-II domain scores at the time of diagnosis significantly predict later cognitive functioning. The adaptive behaviour composite score best predicts later nonverbal cognitive standard scores (p<0.001, R2=0.446). The age at diagnosis and ADOS social score were also predictors of later nonverbal IQ scores. Conclusion: In clinical settings where cognitive assessments cannot be completed at the time of diagnosis, there may be utility in using the VABS-II to better understand the cognitive functioning of children with ASD.