Meet Criteria For Autism Spectrum Disorder Research Articles

Factors Associated with Confirmed and Unconfirmed Autism Spectrum Disorder Diagnosis in Children Volunteering for Research.

Diagnostic accuracy of autism spectrum disorder (ASD) is crucial to track and characterize ASD, as well as to guide appropriate interventions at the individual level. However, under-diagnosis, over-diagnosis, and misdiagnosis of ASD are still prevalent. We describe 232 children (MAge = 10.71 years; 19% female) with community-based diagnoses of ASD referred for research participation. Extensive assessment procedures were employed to confirm ASD diagnosis before study inclusion. The sample was subsequently divided into two groups with either confirmed ASD diagnoses (ASD+) or unconfirmed/inaccurate diagnoses (ASD-). Clinical characteristics differentiating the groups were further analyzed. 47% of children with community-based ASD diagnoses did not meet ASD criteria by expert consensus. ASD + and ASD- groups did not differ in age, gender, ethnicity, or racial make-up. The ASD + group was more likely to have a history of early language delays compared to the ASD- group; however, no group differences in current functional language use were reported by caregivers. The ASD + group scored significantly higher on ADI-R scores and on the ADOS-2 algorithm composite scores and calibrated severity scores (CSSs). The ASD- group attained higher estimated IQ scores and higher rates of psychiatric disorders, including anxiety disorder, disruptive behavior, and mood disorder diagnoses. Broadly, caregiver questionnaires (SRS-2, CCC-2) did not differentiate groups. Increased reported psychiatric disorders in the ASD- group suggests psychiatric complexity may contribute to community misdiagnosis and possible overdiagnosis of ASD. Clinician-mediated tools (ADI-R, ADOS-2) differentiated ASD + versus ASD- groups, whereas caregiver-reported questionnaires did not.

The utility of the autism-spectrum quotient to screen for autism spectrum disorder in adults with attention deficit/hyperactivity disorder

The co-occurrence of attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) has been reported to be highly prevalent in adults. However, very few studies have assessed the usefulness of screening instruments to detect this co-occurrence, particularly when screening for ASD in the context of ADHD. Our study aimed at assessing the utility of the autism-spectrum quotient (AQ) as a screening tool of ASD in a sample of 153 adults referred for ADHD assessment. Our results showed that the AQ is of limited use in this context as its positive predictive value was low (47%). Particularly, the more severe the attentional deficits the more likely individuals with ADHD were to be misclassified as having a co-occurring ASD based on the AQ. However, the “imagination” subscale of the AQ was able to discriminate those who met ASD criteria from those who did not, suggesting that targeting imagination impairments might be useful when assessing for the ADHD+ASD co-occurrence in clinical settings.

A Longitudinal Study of Parent-Child Interactions and Language Outcomes in Fragile X Syndrome and Other Neurodevelopmental Disorders.

Difficulties with pragmatic language (i.e., language in social contexts, such as conversational ability) are a noted characteristic of the language profiles of both fragile X syndrome (FXS) and autism spectrum disorder (ASD), conditions which show significant phenotypic overlap. Understanding the origins and developmental course of pragmatic language problems in FXS and other developmental conditions associated with language impairment is a critical step for the development of targeted interventions to promote communicative competence across the lifespan. This study examined pragmatic language in the context of parent-child interactions in school-age children with FXS (who did and did not meet ASD criteria on the ADOS; n = 85), idiopathic ASD (n = 32), Down syndrome (DS; n = 38), and typical development (TD; n = 39), and their parents. Parent-child communicative interactions were examined across multiple contexts, across groups, and in relationship to pragmatic language outcomes assessed 2 years later. Results showed both overlapping and divergent patterns across the FXS-ASD and idiopathic ASD child and parent groups, and also highlighted key differences in pragmatic profiles based on situational context, with more pragmatic language difficulties occurring for both ASD groups in less structured interactions. Differences in parental language styles during parent-child interactions were associated with child language outcomes, likely reflecting the complex interplay of discourse style inherent to a parent, with the inevitable influence of child characteristics on parent language as well. Together, findings help delineate the dynamic and multifactorial nature of impaired pragmatic skills among children with FXS and other neurodevelopmental disorders associated with language impairment, with potential implications for the development of targeted interventions for pragmatic communication skills.

Autism, ADHD and parent-reported behavioural difficulties in young children with epilepsy

PurposeTo provide data on the prevalence of Autism Spectrum Disorder (ASD), Attention-Deficit/Hyperactivity Disorder (ADHD), and parent reported behaviour difficulties in young children with epilepsy, and to compare results with children with neurodisability (neurodevelopmental/neurological difficulties) without epilepsy. MethodChildren with epilepsy (1–7 years, n = 48) and children with neurodisability (1–7 years, n = 48) matched for gender, chronological and developmental age underwent psychological assessment. Parents completed measures of behaviour including the Strengths and Difficulties Questionnaire (SDQ). DSM-5 diagnoses of ASD and ADHD were made at consensus case conferences. Factors associated with child behaviour were analysed using linear regression. ResultsOf the children with epilepsy, 18% met ASD criteria and 40% met ADHD criteria (corresponding figures in the non-epilepsy group were 41% and 27%). A large proportion (76%–78%) in both groups scored in the at-risk range on the SDQ and frequently had difficulties across multiple behavioural domains. Children with epilepsy had more concerns expressed regarding attention and mood. None of the epilepsy factors were significantly associated with scores on the behavioural measures. SignificanceYoung children with epilepsy had a very high level of parent reported behavioural difficulties and a high risk for ADHD and ASD highlighting the need for comprehensive multidisciplinary assessment. Behavioural concerns were not greater than for other children with non-epilepsy related neurodisability with the exception of attention and mood. Epilepsy related factors were not associated with child behaviour, suggesting that seizures per se do not confer a unique risk for behavioural difficulties.

Social (Pragmatic) Communication Disorder: Another name for the Broad Autism Phenotype?

The Diagnostic and Statistical Manual of Mental Disorders' (5th ed.) Social (Pragmatic) Communication Disorder is meant to capture the social elements of communication dysfunction in children who do not meet autism spectrum disorder criteria. It is unclear whether Social (Pragmatic) Communication Disorder captures these elements without overlapping with Autism Spectrum Disorder or the Diagnostic and Statistical Manual of Mental Disorders' (5th ed.) Language Disorder. Standardized behavioral assessments administered during a family genetics study were used to evaluate the social communication impairment and the restricted interests and repetitive behaviors in persons with autism spectrum disorder, language impairment, or neither. Social communication impairment and restricted interests and repetitive behavior were significantly correlated in all family members regardless of affection status. Rates of social communication impairment and restricted interests and repetitive behavior were highest in individuals with autism spectrum disorder. One-third of family members with language impairment presented with at least mild/moderate levels of social communication impairment (36.6%) and restricted interests and repetitive behavior (43.3%). A subset of unaffected members also presented with mild/moderate levels of social communication impairment (parents = 10.1%, siblings 11.6%) and restricted interests and repetitive behavior (parents = 14.0%, siblings = 22.1%). The majority of child family members with mild/moderate levels of social communication impairment had similar restricted interest and repetitive behavior levels reflecting criteria representing the Broad Autism Phenotype. These data suggest that social pragmatic communication disorder does not capture the profiles of children who have both social communication impairment and restricted interests and repetitive behavior but are in need of clinical services.

Elevated protein concentrations in newborn blood and the risks of autism spectrum disorder, and of social impairment, at age 10 years among infants born before the 28th week of gestation

Among the 1 of 10 children who are born preterm annually in the United States, 6% are born before the third trimester. Among children who survive birth before the 28th week of gestation, the risks of autism spectrum disorder (ASD) and non-autistic social impairment are severalfold higher than in the general population. We examined the relationship between top quartile inflammation-related protein concentrations among children born extremely preterm and ASD or, separately, a high score on the Social Responsiveness Scale (SRS total score ≥65) among those who did not meet ASD criteria, using information only from the subset of children whose DAS-II verbal or non-verbal IQ was ≥70, who were assessed for ASD, and who had proteins measured in blood collected on ≥2 days (N = 763). ASD (N = 36) assessed at age 10 years is associated with recurrent top quartile concentrations of inflammation-related proteins during the first post-natal month (e.g., SAA odds ratio (OR); 95% confidence interval (CI): 2.5; 1.2–5.3) and IL-6 (OR; 95% CI: 2.6; 1.03–6.4)). Top quartile concentrations of neurotrophic proteins appear to moderate the increased risk of ASD associated with repeated top quartile concentrations of inflammation-related proteins. High (top quartile) concentrations of SAA are associated with elevated risk of ASD (2.8; 1.2–6.7) when Ang-1 concentrations are below the top quartile, but not when Ang-1 concentrations are high (1.3; 0.3–5.8). Similarly, high concentrations of TNF-α are associated with heightened risk of SRS-defined social impairment (N = 130) (2.0; 1.1–3.8) when ANG-1 concentrations are not high, but not when ANG-1 concentrations are elevated (0.5; 0.1–4.2).

Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.

Dysregulation of the mitogen activated protein kinase (MAPK) pathway in Costello syndrome (CS) may contribute to increased risk for autism-spectrum disorder (ASD). We examined prevalence of ASD symptoms in 14 individuals (six females) age 1-18 years with molecularly confirmed CS. Caregivers completed the Modified Checklist for Autism in Toddlers (M-CHAT) for ages 0-4 years (n = 7), and the Social Communication Questionnaire (SCQ) for ages 4 and older (n = 7). Age was associated with meeting ASD criteria: 5/7 (71.4%) younger children met the ASD cut-off on the MCHAT, compared to 0/7 older children on the SCQ. The following medical and developmental factors were strongly associated with ASD criteria on the M-CHAT: having a gastrostomy tube at time of assessment, not eating solid food, not walking, and not being toilet trained. Two children who met stricter ASD criteria had significantly lower adaptive functioning and were physically much more impaired. Among older participants, SCQ subscale scores in communication, socialization, and repetitive behavior domains were comparable to the typically-developing normative sample. ASD symptoms were highly elevated in younger CS individuals. Older children did not differ from typically developing samples in prevalence of ASD symptoms. CS individuals may appear to fall on the autism spectrum in early childhood due to severe feeding and orthopedic problems that improve by age four, suggesting many of these children may eventually emerge out of an ASD presentation.

Brief Report: Autism Symptoms in Infants with Fragile X Syndrome.

Fragile X syndrome (FXS) is the most common known genetic cause of autism spectrum disorder (ASD). Although 50-75 % of children with FXS meet ASD criteria, no studies have compared ASD symptoms in infants with FXS versus other high risk groups, such as siblings of children with ASD (ASIBs). Using the Autism Observation Scale for Infants, our findings indicate that 53 % of 12-month infants with FXS fall in the "at risk" category compared to 17 and 6 % for age-matched ASIBs and controls, respectively. Elevated atypical motor behaviors were associated with elevated risk for FXS. Cross-syndrome comparisons are essential to understanding the heterogeneity of ASD and identifying candidate markers that will facilitate differential diagnosis of ASD in genetic disorders such as FXS.

Sex bias in autism spectrum disorder in neurofibromatosis type 1

BackgroundDespite extensive literature, little is known about the mechanisms underlying sex bias in autism spectrum disorder (ASD). This study investigates the sex differences in ASD associated with neurofibromatosis type 1, a single-gene model of syndromic autism.MethodsWe analysed data from n = 194 children aged 4–16 years with neurofibromatosis type 1. Sex differences were evaluated across the Autism Diagnostic Interview-Revised (ADI-R), Autism Diagnostic Observation Schedule (ADOS), verbal IQ, Social Responsiveness Scale (SRS) and Conners questionnaires.ResultsThere was 2.68:1 male:female ratio in children meeting ASD criteria on the deep phenotyping measures. On symptom profile, males with neurofibromatosis type 1 (NF1) + ASD were more impaired on reciprocal social interaction and communication domains of the ADI-R but we found no differences on the restricted, repetitive behaviours (RRBs) domain of the ADI-R and no differences on the social on the ADOS. NF1 ASD males and females were comparable on verbal IQ, and the inattention/hyperactivity domains of the Conners questionnaire.ConclusionsThere is a significant male bias in the prevalence of ASD in NF1. The phenotypic profile of NF1 + ASD cases includes greater social communication impairment in males. We discuss the implications of our findings and the rationale for using NF1 as a model for investigating sex bias in idiopathic ASD.

Stability and change in autism spectrum disorder diagnosis from age 3 to middle childhood in a high-risk sibling cohort.

Considerable evidence on autism spectrum disorder emergence comes from longitudinal high-risk samples (i.e. younger siblings of children with autism spectrum disorder). Diagnostic stability to age 3 is very good when diagnosed as early as 18-24 months, but sensitivity is weaker, and relatively little is known beyond toddlerhood. We examined stability and change in blinded, clinical best-estimate diagnosis from age 3 to middle childhood (mean age = 9.5 years) in 67 high-risk siblings enrolled in infancy. Good agreement emerged for clinical best-estimate diagnoses (89.6% overall; kappa = 0.76, p < 0.001, 95% confidence interval = 0.59-0.93). At age 3, 18 cases (26.9%) were classified with "autism spectrum disorder": 17 retained their autism spectrum disorder diagnosis (94.4%; 13 boys, 4 girls) and 1 no longer met autism spectrum disorder criteria at follow-up. Among "non-autism spectrum disorder" cases at age 3, 43/49 remained non-autism spectrum disorder at follow-up (87.8%; 22 boys, 21 girls) and 6/49 met lower autism symptomatology criteria ("Later-Diagnosed"; 3 boys, 3 girls). Later-diagnosed cases had significantly lower autism spectrum disorder symptomatology and higher receptive language at age 3 and trends toward lower autism symptoms and higher cognitive abilities at follow-up. Emerging developmental concerns were noted in all later-diagnosed cases, by age 3 or 5. High-risk children need to be followed up into middle childhood, particularly when showing differences in autism-related domains.

Prevalence and Early Signs of Autism Spectrum Disorder (ASD) among 18–36 Month Old Children in Tianjin of China

ObjectiveThe aim of this study is to estimate the prevalence of autism spectrum disorder (ASD) among 18–36 month old children in the Tianjin Municipality of China, and to identify early signs of autistic children and the predictability of each individual symptom. MethodsA total of 8 000 children were screened to do a questionnaire based on CHAT modified to include more early signs of autism at the age of 18–36 months. Then the at-risk children were reexamined 1.5 years later and ASD children were identified based on DSM-IV. Early signs of autism were analyzed retrospectively by using discriminant function analysis performed among ASD children, children not followed up and children followed up but failing to meet ASD criteria. ResultsThree hundred and sixty seven children were screened as being at-risk to ASD, and 22 of them were identified as having ASD in the subsequent diagnosis. The prevalence of ASD was 27.5 per 10 000 in Tianjin of China with a male to female ratio of 4:1. Items addressing social interactions and communications had higher predictability than other items to distinguish autistic children from non-autistic ones. Pretend play, functional play, showing and reading parents' facial expressions distinguished autistic children from those not followed up, nevertheless those followed up but failing to meet ASD criteria were not included. ConclusionThe prevalence of ASD found in our study was lower than that reported in some studies by western researchers. Autism has its specific symptoms, such as deficits in social awareness, social relatedness, and social referencing.

Comparing Social Skills in Children Diagnosed with Autism Spectrum Disorder According to the DSM-IV-TR and the DSM-5

Criteria for Autism Spectrum Disorder (ASD) changed significantly with the publication of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) with more symptoms needed to meet criteria for ASD. Several researchers have suggested that this will lead to a significant decrease in prevalence for the disorder. Because social skills have been established as a core symptom since autism was first described, the present study examines differences in social functioning using the Matson Evaluation of Social Skills in Youngsters-II (MESSY-II) among children diagnosed with ASD (ages 3–16 years) using DSM-IV-TR criteria, children diagnosed using the DSM-5, and a control group of typically developing children. In the present study of 205 children and adolescents, significant differences were found between the control group and the ASD groups combined. Differences between the DSM-5 group and the DSM-IV group were not found related to inappropriate social skills, suggesting that those who no longer meet diagnostic criteria for ASD exhibit similar social deficits as those who continue to meet criteria for ASD. Concerning socially appropriate behavior, significantly more impairment was found in the DSM-5 group compared with the DSM-IV group, though both groups evinced severe impairments. The implications of these findings are important. Individuals who no longer meet criteria for ASD have clinically significant social deficits and do not differ significantly from those who continue to meet criteria for ASD. Thus, children no longer meeting ASD criteria continue to need interventions that are effective for treating social deficits in autism.

Drug-refractory aggression, self-injurious behavior, and severe tantrums in autism spectrum disorders: A chart review study

Aggression, self-injurious behavior, and severe tantrums are impairing symptoms frequently experienced by individuals with autism spectrum disorders. Despite US Food and Drug Administration approval of two atypical antipsychotics targeting these symptoms in youth with autistic disorder, they remain frequently drug refractory. We define drug-refractory aggression, self-injurious behavior, and severe tantrums in people with autism spectrum disorders as behavioral symptoms requiring medication adjustment despite previous trials of risperidone and aripiprazole or previous trials of three psychotropic drugs targeting the symptom cluster, one of which was risperidone or aripiprazole. We reviewed the medical records of individuals of all ages referred to our clinic for autism spectrum disorder diagnostic evaluation, as well as pharmacotherapy follow-up notes for all people meeting autism spectrum disorder criteria, for drug-refractory symptoms. Among 250 consecutively referred individuals, 135 met autism spectrum disorder and enrollment criteria, and 53 of these individuals met drug-refractory symptom criteria. Factors associated with drug-refractory symptoms included age 12 years or older (p < 0.0001), diagnosis of autistic disorder (p = 0.0139), and presence of intellectual disability (p = 0.0273). This pilot report underscores the significance of drug-refractory aggression, self-injurious behavior, and severe tantrums; suggests the need for future study clarifying factors related to symptom development; and identifies the need for focused treatment study of this impairing symptom domain.

RETRACTED: Differences in communication skills in toddlers diagnosed with Autism Spectrum Disorder according to the DSM-IV-TR and the DSM-5

Abstract The DSM-5 changes related to Autism Spectrum Disorder (ASD) are controversial, and much research is needed to determine possible implications of the diagnostic changes on early diagnosis and treatment for those with symptoms of the disorder. In the present study, the area of communication was examined, specifically related to the effect the DSM-5 changes have on scores of Expressive and Receptive communication in a sample of 3138 at-risk toddlers using the Battelle Developmental Inventory, Second Edition . Significant differences were not found in overall communication or Expressive Communication between toddlers who longer meet ASD criteria ( n = 354) and those who continue to meet the new criteria ( n = 486); a difference of only small effect size was found in Receptive communication. The toddlers who no longer met the new criteria represented a population of toddlers who were significantly more impaired than atypically developing peers who did not meet ASD criteria under either version of the DSM ( n = 2298), with moderate effect sizes found in receptive, expressive, and overall communication. Importantly, results of the current study demonstrate that toddlers who no longer meet criteria do not differ from toddlers who continue to meet ASD criteria in their Expressive Communication, a common area of first concern noted by parents, and an area that is focused on during early intervention.

White Matter Microstructure and Atypical Visual Orienting in 7-Month-Olds at Risk for Autism

OBJECTIVE The authors sought to determine whether specific patterns of oculomotor functioning and visual orienting characterize 7-month-old infants who later meet criteria for an autism spectrum disorder (ASD) and to identify the neural correlates of these behaviors. METHOD Data were collected from 97 infants, of whom 16 were high-familial-risk infants later classified as having an ASD, 40 were high-familial-risk infants who did not later meet ASD criteria (high-risk negative), and 41 were low-risk infants. All infants underwent an eye-tracking task at a mean age of 7 months and a clinical assessment at a mean age of 25 months. Diffusion-weighted imaging data were acquired for 84 of the infants at 7 months. Primary outcome measures included average saccadic reaction time in a visually guided saccade procedure and radial diffusivity (an index of white matter organization) in fiber tracts that included corticospinal pathways and the splenium and genu of the corpus callosum. RESULTS Visual orienting latencies were longer in 7-month-old infants who expressed ASD symptoms at 25 months compared with both high-risk negative infants and low-risk infants. Visual orienting latencies were uniquely associated with the microstructural organization of the splenium of the corpus callosum in low-risk infants, but this association was not apparent in infants later classified as having an ASD. CONCLUSIONS Flexibly and efficiently orienting to salient information in the environment is critical for subsequent cognitive and social-cognitive development. Atypical visual orienting may represent an early prodromal feature of an ASD, and abnormal functional specialization of posterior cortical circuits directly informs a novel model of ASD pathogenesis.

Comparing Symptoms of Autism Spectrum Disorders in a Developmentally Disabled Adult Population Using the Current DSM-IV-TR Diagnostic Criteria and the Proposed DSM-5 Diagnostic Criteria

The American Psychiatric Association is making changes in the autism spectrum disorder (ASD) criteria for the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5). In order to examine potential effects of the changing of the criteria, 330 adults with intellectual disability (ID) from two developmental centers were examined. However, due to the fact that the DSM-IV-TR/ICD-10 Checklist does not contain one of the restricted behavior items listed in the current proposed DSM-5 criteria, 41 participants were eliminated from the study. An additional 62 individuals were randomly removed from the study so that no one group was 1.5 times larger than any other group. This left a total of 227 individuals. These individuals were divided into three groups: those who met criteria for an ASD according to only DSM-IV-TR criteria, those who met criteria according to the proposed DSM-5 criteria, and controls with ID not meeting ASD criteria according to either diagnostic system. After statistical analysis, individuals in the DSM-5 group evinced significantly greater overall ASD core symptoms than those in the DSM-IV-TR group or controls. In addition, those in the DSM-IV-TR group exhibited significantly greater overall ASD core symptoms than those in the control group. Furthermore, we found that the percentage of adults diagnosed with ASD declined by 36.53% when using DSM-5 as compared to DSM-IV-TR criteria. Implications of these findings are discussed.