Rates Of Autism Spectrum Disorder Research Articles

Face processing and exploration of social signals in Prader-Willi syndrome: a genetic signature

BackgroundFaces are critical social cues that must be perfectly processed in order to engage appropriately in everyday social interactions. In Prader-Willi Syndrome (PWS), a rare genetic disorder characterized by cognitive and behavioural difficulties including autism spectrum disorder, the literature referring to face processing is sparse. Given reports of poor social interactions in individuals with PWS, we sought to assess their face and emotion recognition skills during eyetracking recordings.ResultsCompared with controls, patients with PWS performed more poorly on face/emotion recognition. We observed atypical facial exploration by patients with maternal disomy. These patients looked preferentially at the mouth region, whereas patients with a deletion and controls were more attracted to the eye region. During social scenes, the exploration became more atypical as the social content increased.ConclusionsOur comprehensive study brings new insights into the face processing of patients with PWS. Atypical facial exploration was only displayed by patients with the maternal disomy subtype, corresponding to their higher rate of autism spectrum disorder. This finding strongly argues in favor of early identification of this genetic subgroup in order to optimize care by implementing tailored interventions for each patient as soon as possible.

Autism spectrum disorder in children and young people with non-epileptic seizures

PurposeNon-epileptic seizures are paroxysmal events which to an observer resemble epileptic seizures. Proposed risk factors incorporate biopsychosocial aspects including factors in the affected individual. Unexpectedly high rates of autism spectrum disorder (ASD) occurred in the clinical population reported here. Although elevated levels of psychiatric co-morbidity are known to be present in patients with NES, ASD has only been previously described in a single case report. MethodsThis case series captures rates of ASD in 59 children and young people who were referred to a specialist paediatric mental health service at Great Ormond Street Hospital, London, UK for assessment and treatment of non-epileptic seizures between 2012 and 2016. Results10/59 (16.9%) of the children and young people with non-epileptic seizures also had ASD, with 5/10 (50%) of these undiagnosed with ASD before referral. Children and young people with ASD were significantly more likely to have tics or attention-deficit hyperactivity disorder than those without ASD. ConclusionASD may be a common co-morbidity in non-epileptic seizures. Careful clinical assessment with consideration of ASD traits is therefore important in the non-epileptic seizures population. It is beneficial to diagnose ASD early as its presence is likely to require a modified approach to assessment and treatment of non-epileptic seizures. Study of the development of non-epileptic seizures in ASD may suggest hypotheses for the pathogenesis of non-epileptic seizures in the wider population.

Do autistic patients change healthcare services utilisation through the transition age? An Italian longitudinal retrospective study

ObjectivesThis paper aims to provide an estimate of the prevalence rate of autism spectrum disorder (ASD) in 8-year-olds in 2017 based on administrative databases and to investigate the change in...

Acoustic properties of early vocalizations in infants with fragile X syndrome.

Fragile X syndrome (FXS) is a neurogenetic syndrome characterized by cognitive impairments and high rates of autism spectrum disorder (ASD). FXS is often highlighted as a model for exploring pathways of symptom expression in ASD due to the high prevalence of ASD symptoms in this population and the known single-gene cause of FXS. Early vocalization features-including volubility, complexity, duration, and pitch-have shown promise in detecting ASD in idiopathic ASD populations but have yet to be extensively studied in a population with a known genetic cause for ASD such as FXS. Investigating early trajectories of these features in FXS may inform our limited knowledge of potential mechanisms that predict later social communication outcomes. The present study addresses this need by presenting preliminary findings which (a) characterize early vocalization features in FXS relative to low-risk controls (LRC) and (b) test the specificity of associations between these features and language and ASD outcomes. We coded vocalization features during a standardized child-examiner interaction for 39 nine-month-olds (22 FXS, 17 LRC) whose clinical outcomes were assessed at 24 months. Our results provide preliminary evidence that within FXS, associations between vocalization features and 24-month language outcomes may diverge from those observed in LRC, and that vocalization features may be associated with later ASD symptoms. These findings provide a starting point for more research exploring these features as potential early markers of ASD in FXS, which in turn may lead to improved early identification methods, treatment approaches, and overall well-being of individuals with ASD. Autism Res2019. © 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Although vocal features of 9-month-olds with FXS did not differ from those of low-risk controls, several features were associated with later language and ASD outcomes at 24 months in FXS. These preliminary results suggest acoustic data may be related to clinical outcomes in FXS and potentially other high-risk populations. Further characterizing these associations may facilitate understanding of biological mechanisms and risk factors associated with social communication development and ASD.

Sex/Gender Phenotypes and the Diagnosis and Treatment of Autism Spectrum Disorder: Implications for Applied Behavior Analysts.

Research has consistently reported a higher rate of autism spectrum disorder (ASD) diagnoses in males than in females, but until recently, the impact of sex/gender differences has received little attention from applied behavior analysts. The underlying reasons for the difference in rates of diagnosis could be related to genetic or hormonal differences, sociocultural expectations of behavior based on sex/gender norms, or biases built into the assessment and observation of ASD symptoms. It is necessary to engage in further discussion and research in order to improve the treatment and quality of life of persons with ASD because misdiagnosis or late diagnosis can delay the start of early intervention and limit its proven benefits. Furthermore, differences in symptom presentation can impact interventions selected. We suggest that applied behavior analysts should be knowledgeable of these issues and the implications they may have on the field of applied behavior analysis in general.

Academic Libraries and Autism Spectrum Disorder: What Do We Know?

This paper examines the rising rates of autism spectrum disorder (ASD) in children in the United States (1 in 59), and explores the role academic libraries can play in helping college students with ASD. A literature review of how different types of libraries (school, public, academic) support students with ASD indicates research in this area in general is lacking. Findings point to lack of adequate training and awareness for librarians and staff, resources, services and spaces are universal challenges. Several initiatives that academic libraries and librarians may consider in helping students with ASD are identified and described.

Autism spectrum disorder (ASD) symptom profiles of children with comorbid Down syndrome (DS) and ASD: A comparison with children with DS-only and ASD-only

BackgroundDown syndrome (DS) is associated with increased rates of autism spectrum disorder (ASD), characterized by social−communicative impairments (SOC−COM) and repetitive behaviors and interests (RBI). However, little is known about the ASD symptom presentation in children with DS + ASD. AimsThe current study sought to describe parent-report of SOC−COM and RBI symptoms on the Autism Diagnostic Interview -Revised (ADI-R) in children with DS (n = 22), DS + ASD (n = 11), and ASD (n = 66). MethodSOC−COM and RBI scores from the ADI-R were compared across the groups whose autism status was ascertained using the Autism Diagnostic Observation Schedule. ResultsDifferences in SOC−COM and RBI symptom severity was observed. The general pattern of findings was ASD > DS+ASD > DS. Dissimilar ASD symptom profiles were observed across groups. In ASD, SOC−COM scores were higher than RBI scores; in DS + ASD, similar SOC−COM and RBI scores were observed. Lastly, SOC−COM impairments were highly related to verbal cognition in youth with DS + ASD but not in those with DS or ASD. Conclusions and ImplicationsThese findings suggest that children with DS + ASD have a distinct profile of ASD symptoms that differs from peers with either disorder in isolation. Thus, care should be taken in evaluating and designing treatments for this group.

Characteristics of Agencies Providing Support Services for Children with Autism Spectrum Disorders in Vietnam.

As in virtually all countries, in Vietnam there has been a general trend towards apparent increased rates of Autism Spectrum Disorder (ASD). To address the needs of families and children with ASD, many agencies providing support services have been opened throughout Vietnam over the last two decades. Although agencies in general appear to strive to provide good quality service, the actual quality of operations is unknown. The present article collected and analyzed secondary data from 68 agencies across Vietnam from different information sources, using the nine criteria published by Tran, Weiss, and Pham (in press) [1] and Nguyen, Hoang, Nguyen, Pham, and Tran (2017) [2] to evaluate agency quality. Results of this review suggest that a significant number of centers do not have appropriate legal status, are not following basic ethical standards, are using non-evidence based intervention methods, and are unclear in regards to the intervention procedures or intervention plans they use. Although the current study has a number of limitations, it provides important initial information regarding the current status of ASD services in Vietnam.

Cross-Cultural Content Validity of the Autism Program Environment Rating Scale in Sweden

Increasing rates of autism spectrum disorder (ASD) and younger age at diagnosis pose a challenge to preschool intervention systems. In Sweden, most young autistic children receive intervention service in community-based preschool programs, but no tool is yet available to assess the quality of the preschool learning environment. This study adapted the Autism Program Environment Rating Scale Preschool/Elementary to Swedish community context (APERS-P-SE). Following translation and a multistep modification process, independent experts rated the content validity of the adaptation. Findings indicate high cross-cultural validity of the adapted APERS-P-SE. The cultural adaption process of the APERS-P-SE highlights similarities and differences between the American and Swedish preschool systems and their impact on early ASD intervention.

Comparison of Aberrant Behavior Checklist profiles across Prader-Willi syndrome, Down syndrome, and autism spectrum disorder.

Prader-Willi syndrome (PWS, OMIM # 176270) and Down syndrome (DS, OMIM #190685) are neurodevelopmental genetic disorders with higher rates of autism spectrum disorder (ASD). The Aberrant Behavior Checklist (ABC) is a caregiver rating scale that assesses maladaptive behaviors. Overlapping symptoms exist between PWS, DS, and ASD, including maladaptive behaviors. We aimed to evaluate ABC profiles between PWS, DS, and ASD alone (without known genetic syndrome). In addition, we hypothesized PWS and DS with a comorbid ASD positive screen or diagnosis would have similar ABC profiles to ASD alone. ABC data from the following cohorts were analyzed: PWS (Seattle Children's Hospital, n = 28, mean age = 12.8 ± 4.9 years; University of Florida, n = 35, mean age = 9.3 ± 7.1 years), DS (Johns Hopkins, n = 406, mean age = 8.1 ± 2.4 years), and ASD (University of Florida, n = 102, mean age = 10.8 ± 3.5 years). ASD alone had significantly higher ABC scores. Subgroups of PWS and DS with a comorbid ASD positive screen or diagnosis had similarities in scores with the ASD only group, with subscale patterns unique to each syndrome. The ABC indicated worse maladaptive behaviors in children with ASD, including those with genetic syndromes. Although more studies are needed to evaluate the utility and the accuracy of the ABC as a tool to screen for ASD in special populations, it may be a useful adjunct in screening those children with PWS or DS who need more in depth ASD evaluation.

Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome.

Truncating variants of the MAGEL2 gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)-a neurodevelopmental disorder that shares several clinical features with PWS. The current study sought to characterize the neurobehavioral phenotype of SYS in a sample of 9 patients with molecularly-confirmed SYS. Participants received an assessment of developmental/intellectual functioning, adaptive functioning, autism symptomatology, and behavioral/emotional functioning. Compared to individuals with PWS, patients with SYS manifested more severe cognitive deficits, no obsessions or compulsions, and increased rates of autism spectrum disorder.

Polycystic Ovary Syndrome Is Associated With Adverse Mental Health and Neurodevelopmental Outcomes.

Polycystic ovary syndrome (PCOS) is characterized by hyperandrogenism and subfertility, but the effects on mental health and child neurodevelopment are unclear. To determine if (1) there is an association between PCOS and psychiatric outcomes and (2) whether rates of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are higher in children of mothers with PCOS. Data were extracted from the Clinical Practice Research Datalink. Patients with PCOS were matched to two control sets (1:1) by age, body mass index, and primary care practice. Control set 2 was additionally matched on prior mental health status. Primary outcomes were the incidence of depression, anxiety, and bipolar disorder. Secondary outcomes were the prevalence of ADHD or ASD in the children. Eligible patients (16,986) were identified; 16,938 and 16,355 were matched to control sets 1 and 2, respectively. Compared with control set 1, baseline prevalence was 23.1% vs 19.3% for depression, 11.5% vs 9.3% for anxiety, and 3.2% vs 1.5% for bipolar disorder (P < 0.001). The hazard ratio for time to each endpoint was 1.26 (95% confidence interval 1.19 to 1.32), 1.20 (1.11 to 1.29), and 1.21 (1.03 to 1.42) for set 1 and 1.38 (1.30 to 1.45), 1.39 (1.29 to 1.51), and 1.44 (1.21 to 1.71) for set 2. The odds ratios for ASD and ADHD in children were 1.54 (1.12 to 2.11) and 1.64 (1.16 to 2.33) for set 1 and 1.76 (1.27 to 2.46) and 1.34 (0.96 to 1.89) for set 2. PCOS is associated with psychiatric morbidity and increased risk of ADHD and ASD in their children. Screening for mental health disorders should be considered during assessment.

Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1)

In a non-selected sample of children with Neurofibromatosis type 1 (NF1) the prevalence rate of autism spectrum disorder (ASD) and predictive value of an observational (ADOS)—and questionnaire-based screening instrument were assessed. Complete data was available for 128 children. The prevalence rate for clinical ASD was 10.9%, which is clearly higher than in the general population. This prevalence rate is presumably more accurate than in previous studies that examined children with NF1 with an ASD presumption or solely based on screening instruments. The combined observational- and screening based classifications demonstrated the highest positive predictive value for DSM-IV diagnosis, highlighting the importance of using both instruments in children with NF1.

Child and family characteristics moderate agreement between caregiver and clinician report of autism symptoms.

Evaluation of autism spectrum disorder (ASD) incorporates both caregiver and clinician perspectives of symptoms, and disagreement between these perspectives could lead to poorer outcomes for families. Using data from 2,759 families, we show that caregiver-clinician agreement on ASD symptoms is poorer for children with higher cognitive and adaptive skills, more behavioral difficulties, lower household income, and African American racial status. These children may be at higher risk for misdiagnosis, poorer family experiences during evaluations, and poorer representation in ASD research.

A phenomenological content analysis of online support seeking by siblings of people with autism

ABSTRACTWith the sharp increase in diagnosis rates of autism spectrum disorder, more family members are caring for and being raised with individuals with autism. Although research has examined parents’ experiences of raising a child with autism, more knowledge is needed regarding neuro-typical siblings’ experiences. One way to understand siblings’ experiences is to hear their own recollections as shared through online peer forums. The purpose of this phenomenological content analysis was to understand the unfiltered experiences of neuro-typical adults who grew up with a sibling with autism spectrum disorder as they sought support online. Secondary analysis of online blog posts generated four themes: Unique family relationships; Complex spectrum of emotional experiences; Autism influencing life trajectories; A spectrum of coping strategies. Results provide useful implications for professionals working with these families and for researchers studying autism.

Is exposure to aluminium adjuvants associated with social impairments in mice? A pilot study

BackgroundOur group has shown that significant correlations exist between rates of Autism Spectrum Disorder (ASD) and total aluminum adjuvants given to children through vaccines in several Western countries. These correlations satisfied eight out of nine Hill criteria for causality. Experimental studies have demonstrated a range of behavioural abnormalities in young mice after postnatal exposure to aluminium. To build on our previous work, the current study will investigate the effect of aluminium adjuvants on social behaviour in mice. Anomalies in social interaction are a key characteristic of those with ASD. MethodsNeonatal CD-1 mice pups were injected with either a total of 550μg of aluminum hydroxide gel (experimental group) or saline (control) spread out during the first two weeks of postnatal life. The mice were then subjected to behavioural tests for social interest and social novelty at postnatal week 8, 17 and 29. p-Values were calculated using the Mann-Whitney and Kruskal Wallis tests. ResultsAluminum injected mice showed diminished social interest compared to controls at week 8 (p=0.016) and 17 (p=0.012). They also demonstrated abnormal social novelty from controls at week 8 (p=0.002) and week 29 (p=0.042). ConclusionThis is the first experimental study, to our knowledge, to demonstrate that aluminum adjuvants can impair social behaviour if applied in the early period of postnatal development. The study, however, is insufficient to make any assertive claims about the link between aluminium adjuvants and ASD in humans.

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder

BackgroundPrevious studies have reported no clear critical region for medical comorbidities in children with deletions or duplications of 22q11.2. The purpose of this study was to evaluate whether individuals with small nested deletions or duplications of the LCR-A to B region of 22q11.2 show an elevated rate of autism spectrum disorder (ASD) compared to individuals with deletions or duplications that do not include this region.MethodsWe recruited 46 patients with nested deletions (n = 33) or duplications (n = 13) of 22q11.2, including LCR-A to B (ndel = 11), LCR-A to C (ndel = 4), LCR-B to D (ndel = 14; ndup = 8), LCR-C to D (ndel = 4; ndup = 2), and smaller nested regions (n = 3). Parent questionnaire, record review, and, for a subset, in-person evaluation were used for ASD diagnostic classification. Rates of ASD in individuals with involvement of LCR-B to LCR-D were compared with Fisher’s exact test to LCR-A to LCR-B for deletions, and to a previously published sample of LCR-A to LCR-D for duplications. The rates of medical comorbidities and psychiatric diagnoses were determined from questionnaires and chart review. We also report group mean differences on psychiatric questionnaires.ResultsIndividuals with deletions involving LCR-A to B showed a 39–44% rate of ASD compared to 0% in individuals whose deletions did not involve LCR-A to B. We observed similar rates of medical comorbidities in individuals with involvement of LCR-A to B and LCR-B to D for both duplications and deletions, consistent with prior studies.ConclusionsChildren with nested deletions of 22q11.2 may be at greater risk for autism spectrum disorder if the region includes LCR-A to LCR-B. Replication is needed.

Population-Based Assessment of Effective Contraceptive Use and Pregnancy Intentions

No prior studies have assessed change in health care provider–coded rates of Autism spectrum disorder (ASD) diagnoses over time, and few have investigated sociodemographic factors associated with having an ASD diagnosis, having behavioral conditions comorbid with ASD, or using psychotropic medications for this group.We used data from the 1994–2009 National (Hospital) Ambulatory Medical Care Surveys for children aged 2–18 years (n = 158,488).Rates of visits with coded-ASD per 100 outpatient medical visits increased from 0.04% to 0.82% from 1994 to 2009. Factors associated with an ASD diagnosis included male gender, lack of private insurance, white race, and later study period. The most frequent comorbid behavioral diagnoses were ADHD, anxiety, disruptive behavior, and mood disorders. Older age was linked to an increased likelihood of having a comorbid behavioral diagnosis and using psychotropic medications. Geographic region was also associated with having a comorbid behavioral diagnosis, and psychotropic use was linked to have a behavioral comorbidity. Comorbidities with the highest rates of psychotropic use were ADHD, mood, and anxiety disorders.Pediatric outpatient visits with an ASD diagnosis have increased dramatically from 1994 to 2009. Further study is needed to determine the reasons for the observed sociodemographic disparities in ASD diagnosis.

Autism spectrum disorders and their treatment with psychotropic medications in a nationally representative outpatient sample: 1994–2009

PurposeNo prior studies have assessed change in health care provider–coded rates of Autism spectrum disorder (ASD) diagnoses over time, and few have investigated sociodemographic factors associated with having an ASD diagnosis, having behavioral conditions comorbid with ASD, or using psychotropic medications for this group. MethodsWe used data from the 1994–2009 National (Hospital) Ambulatory Medical Care Surveys for children aged 2–18 years (n = 158,488). ResultsRates of visits with coded-ASD per 100 outpatient medical visits increased from 0.04% to 0.82% from 1994 to 2009. Factors associated with an ASD diagnosis included male gender, lack of private insurance, white race, and later study period. The most frequent comorbid behavioral diagnoses were ADHD, anxiety, disruptive behavior, and mood disorders. Older age was linked to an increased likelihood of having a comorbid behavioral diagnosis and using psychotropic medications. Geographic region was also associated with having a comorbid behavioral diagnosis, and psychotropic use was linked to have a behavioral comorbidity. Comorbidities with the highest rates of psychotropic use were ADHD, mood, and anxiety disorders. ConclusionsPediatric outpatient visits with an ASD diagnosis have increased dramatically from 1994 to 2009. Further study is needed to determine the reasons for the observed sociodemographic disparities in ASD diagnosis.

The development of offspring from mothers with systemic lupus erythematosus. A systematic review.

To analyze published data on the influence of maternal systemic lupus erythematosus (SLE) on different aspects of child development. A systematic review was conducted using PubMed and Embase searches for SLE or SLE-related antibodies and physical, neurocognitive, psychiatric or motor development outcomes in children. In total 24 cohort and 4 case-control studies were included after initial screening of 1853 hits. Learning disorders (LD) were reported in 21.4-26% of SLE offspring, exceeding the prevalence in the general population. Four studies reported that dyslexia and reading problems were present in 14.3-21.6% of lupus offspring with a clear male predominance. Furthermore, a twofold increased rate of autism spectrum disorders (ASD) (n=1 study) and a two- to threefold increased risk for speech disorders (n=3 studies) were reported in lupus offspring compared to controls, although the latter was not statistically significant. More divergent results were found for attention deficit (n=5 studies) and behavior disorders (n=3 studies). In two large controlled studies attention disorders were more prevalent and a trend towards more behavior disorders was reported in 2 of 3 studies analyzing this subject. Finally, IQ and motor skills were not affected in respectively 7 and 5 studies. Cardiopulmonary functioning and mood disorders were scarcely investigated (both n=1). Maternal anti-SSA antibodies were associated with LD in offspring in one study. Other SLE-related antibodies were rarely studied. This systematic review suggests that maternal SLE is associated with LD (specifically dyslexia), ASD, attention deficit and probably speech problems in offspring. However, over half of the studies were assigned a low or moderate evidence level. Therefore, further research is necessary to substantiate the found evidence and expand the scope to lesser researched areas such as cardiopulmonary functioning.