Disparity in autism spectrum disorder prevalence among Taiwan National Health Insurance enrollees: Age, gender and urbanization effects

The present study aims to characterize the prevalence of autism spectrum disorders (ASDs) in Taiwan while examining the effects of age, gender, and urbanization on ASD occurrence. A cross-sectional study was conducted to analyze data from 895,639 random health insurance claimants who claimed medical services in the year 2007. Autism was defined using the ICD-9-CM Diagnosis Code 299.0 (autism, current or active). The prevalence of autistic cases was found to be 12.3‰ (10,868/884,771) in the general population, with the prevalence among males (19.2‰) significantly higher than that among females (6‰). With regards to age distribution, we found that the autistic group (mean age = 16.0 years) was significantly younger than the general population (mean age = 37.2 years). A logistic regression analysis found that age, gender, residence urbanization level and Bureau of National Health Insurance regional division all constituted influence factors for autistic occurrence. The results demonstrate the importance of taking into account age, gender, and geographical disparities in autistic prevalence in order to implement appropriate public health policies for the ASD population.     

Age of autism spectrum disorder diagnosis is associated with child's variables and parental experience

Early diagnosis of autism spectrum disorder (ASD) is highly important as it enables an early start to intervention. The current study examined familial (parental ages; education; having an older sibling) and child (gender; reported and observed autism symptoms severity; adaptive skills) related variables that might predict the age of ASD diagnosis. The study included 551 participants, age range 15–72 months, diagnosed with ASD who underwent comprehensive medical and behavioral assessment using standardized tests. Of the child's examined variables, the severity of the social interaction impairment reported by the parents and having a history of developmental regression was associated with an earlier age of ASD diagnosis. In contrast, the severity of the restricted and repetitive behaviors was associated with delayed age of ASD diagnosis. Vineland Adaptive Behavior Scales scores lower or higher than the group's mean (70 points) were associated with a relatively delayed age of ASD diagnosis. Of the familial variables, only having an older sibling was associated with an earlier diagnosis. Professionals should be aware that subtle signs of ASD, developmental delay and close to normal adaptive functioning might delay age of ASD diagnosis. Educating parents on “red flags” for ASD and periodic surveillance in early childhood are important.     

The gender of participants in published research involving people with autism spectrum disorders

Research articles involving participants with an autism spectrum disorder and published from 2010 through 2012 in Autism, Journal of Autism and Developmental Disorders, Journal of Child Psychology and Child Psychiatry, and Research in Autism Spectrum Disorders were examined to determine the reported gender of participants. The overall male:female ratio was 4.62, which is similar to that reported in epidemiological studies, but the ratio was 6.07 in intervention studies. These findings suggesting that males were in a statistical sense over-represented in intervention studies, but not in other kinds of research. Most (82.21%) of these studies included both male and female participants, but direct comparisons of males and females with an autism spectrum disorder are scarce. Few of the articles we examined, 0.49% of the total, involved only female participants. Roughly half of the articles included comparison groups without an autism spectrum disorder. The percentage of male participants in these comparison groups was substantially and significantly lower than the percentage of males in groups with an autism spectrum disorder, which may in some cases constitute a methodological confound. We encourage researchers to carefully consider the gender of participants as both an extraneous variable and as an independent variable in future investigations.     

Deep brain stimulation for autism spectrum disorder

Deep brain stimulation (DBS) is a medical treatment that aims to obtain therapeutic effects by applying chronic electrical impulses in specific brain structures and neurological circuits. Over the years, DBS has been studied for the treatment of many psychiatric disorders. Scientific research on the use of DBS in people with autism has focused this interest mainly on treatment-resistant obsessive-compulsive disorder, drug-resistant epilepsy, self-injurious behaviors (SIB), and aggressive behaviors toward the self. Autism spectrum disorder (ASD) includes a group of developmental disabilities characterized by patterns of delay and deviance in the development of social, communicative, and cognitive skills and the presence of repetitive and stereotyped behaviors as well as restricted interests. People with autism often have numerous medical and psychiatric comorbidities that worsen the quality of life of patients and their caregivers. Obsessive-compulsive symptoms can be found in up to 81.3% of people with autism. They are often severe, refractory to treatment, and particularly difficult to treat. SIB has a high prevalence in severely retarded individuals and is often associated with autism. Drug treatment of both autism and SIB presents a therapeutic challenge. To describe the current state of the art regarding the efficacy of DBS in people with ASD, a literature search was conducted for relevant studies using the PubMed database. Thirteen studies have been considered in this paper. Up to date, DBS has been used for the stimulation of the nucleus accumbens, globus pallidus internus, anterior limb of the internal capsule, ventral anterior limb of the internal capsule, basolateral amygdala, ventral capsule and ventral striatum, medial forebrain bundle, and posterior hypothalamus. In the total sample of 16 patients, 4 were adolescents, and 12 were adults. All patients had symptoms resistant to multiple drug therapy. Many patients taken into consideration by the studies showed clinical improvements as evidenced by the scores of the psychopathological scales used. In some cases, clinical improvements have varied over time, which may require further investigation. Among the new therapeutic perspectives, DBS could be a valid option. However, further, and more in-depth research is needed in this field.     

儿童孤独谱系障碍诊治研究进展

从1943 年Kanner 医生第一次描述儿童孤独症以来,人们对孤独症的认识已经走过了70 余年的历程,有关孤独症的知识逐渐普及,社会各界越来越重视,诊治研究前所未有的活跃,取得了一些令人瞩目的进展,主要集中在以下几个方面.     

Cognitive flexibility impairments in children with autism spectrum disorders: Links to age,gender and child outcomes

There are still many questions about the cognitive flexibility in autism spectrum disorder (ASD) that remain unanswered. The goal of current study was to evaluate cognitive flexibility patterns and their demographic, clinical and behavioral correlates in large sample of children with ASD. A total of 123 children (94 boys and 29 girls) with ASD aged 7–14 years were assessed on the Wisconsin card sorting test (WCST). Findings showed that gender but not age was associated with the cognitive flexibility performance in ASD. Individuals who had more parent-reported language deficits, lower level of intelligence and education, and showed lower daily sleep time or more engagement in solitary instead of social daily activities were more likely to demonstrate perseveration. Findings provide tentative evidence of a link between cognitive flexibility deficits and sociodemographic or clinical child outcomes in ASD.     

Autistic spectrum disorder,attention deficit hyperactivity disorder,and psychiatric comorbidities: A nationwide study

Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are both frequently comorbid with other psychiatric disorders, but the comorbid effect of ASD and ADHD relative to the comorbid risk of other psychiatric disorders is still unknown. Using the Taiwan National Health Insurance Research Database, 725 patients with ASD-alone, 5694 with ADHD-alone, 466 with ASD + ADHD, and 27,540 (1:4) age-/gender-matched controls were enrolled in our study. The risk of psychiatric comorbidities was investigated. The ADHD + ASD group had the greatest risk of developing schizophrenia (hazard ratio [HR]: 95.89; HR: 13.73; HR: 174.61), bipolar disorder (HR: 74.93; HR: 19.42; HR: 36.71), depressive disorder (HR: 17.66; HR: 12.29; HR: 9.05), anxiety disorder (HR: 49.49; HR: 50.92; HR: 14.12), disruptive behavior disorder (HR: 113.89; HR: 93.87; HR: 26.50), and tic disorder (HR: 8.95; HR: 7.46; HR: 4.87) compared to the ADHD-alone, ASD-alone, and control groups. Patients with ADHD + ASD were associated with the greatest risk of having comorbid bipolar disorder, depressive disorder, anxiety disorder, disruptive behavior disorder, and tic disorder. The diagnoses of ASD and ADHD preceded the diagnoses of other psychiatric comorbidities. A comprehensive interview scrutinizing the psychiatric comorbidities would be suggested when encountering and following patients with both ASD and ADHD in clinical practice.     

Genes associated with autism spectrum disorder

Autism spectrum disorder (ASD) is a heterogeneous grouping of neurodevelopmental disorders characterized by impairment in social interaction, verbal communication and repetitive/stereotypic behaviors. Much evidence suggests that ASD is multifactorial with a strong genetic basis, but the underlying mechanisms are far from clear. Recent advances in genetic technologies are beginning to shed light on possible etiologies of ASD. This review discusses current evidence for several widely studied candidate ASD genes, as well as various rare genes that supports their relationship to the etiology of ASD. The majority of the data are based on molecular, cytogenetic, linkage and association studies of autistic subjects, but newer methods, including whole-exome sequencing, are also beginning to make significant contributions to our understanding of autism.     

Shuffling babies and autism spectrum disorder

Background and purposeBottom shuffling is a locomotion strategy that precedes independent walking in some infants. Shuffling babies are generally considered to have favorable outcomes. The aim of the present study was to reveal clinical features and neurodevelopmental outcomes of shuffling babies who visited a child developmental center.MethodsWe studied 48 shuffling babies who visited Toyota Municipal Child Development Center from April 2007 to March 2015. We excluded patients with cerebral palsy, Down syndrome, or congenital disorders. In 2018, we retrospectively reviewed the clinical charts of the enrolled children. We investigated family history, neurological findings, and the developmental outcome during the follow-up period.ResultsDuring the follow-up period, 20 children (42%) were diagnosed with ASD. Gross motor development in infancy was not different between infants with and without ASD. The rate of poor eye contact at the first visit and a delay in the first word speech were significantly higher in infants with ASD than in infants without ASD. A family history of bottom shuffling was significantly less frequent in infants with ASD (10%) than in those without (39%).ConclusionSome of bottom shufflers may represent ASD during follow-up. Paying attention to social and cognitive functions in shuffling babies is important.     

Psychiatric comorbidity associated with co-occurring autism spectrum disorder and substance use disorder

BackgroundAlthough both autism spectrum disorder (ASD) and substance use disorder (SUD) are both commonly comorbid with other psychiatric conditions, there is a paucity of research on the overlap of these disorders. The primary aim of the present study was to identify the prevalence of psychiatric comorbidities in young adults with SUD and ASD compared to those with ASD only.MethodMultivariate logistic regression controlling for age was used to compare the prevalence of psychiatric disorders in a sample of treatment-seeking adult outpatients with a) ASD without SUD and b) ASD with SUD. Psychiatric and SUD diagnoses were determined by semi-structured interview (SCID for DSM IV).ResultsThe sample included 42 patients with ASD only (mean age ± SD = 26.2 ± 8.9 years) and 21 with ASD and SUD (35.2 ± 12.6). High rates of psychopathology were found in both groups. Comorbid conduct disorder (CD) was significantly more prevalent in the ASD + SUD group (25 %) compared to those without SUD (5%; p < 0.05). There were no other significant differences between groups in the rates of non-conduct comorbid psychopathology.ConclusionIn both groups, rates of psychopathology were high with CD being significantly more common in young adults with ASD and SUD. These findings highlight the importance of screening for CD in individuals with ASD to mitigate the potential development of comorbid SUD. Further research is needed to determine if CD is a true risk factor for SUD in the ASD population and identify other risk factors.     

Impaired representational gaze following in children with autism spectrum disorder

Using eye-tracking methodology, we compared spontaneous gaze following in young children with Autism Spectrum Disorder (mean age 5.8 years) to that of typically developing children (mean age 5.7 years). Participants saw videos in which the position of a hidden object was either perceptually visible or was only represented in another person’s mind. The findings indicate that children with Autism Spectrum Disorder were significantly less accurate in gaze following and observed the attended object for less time than typically developing children only in the Representational Condition. These results show that children with Autism Spectrum Disorder are responsive to gaze as a perceptual cue although they ignore its representational meaning.     

孤独谱系障碍患儿的感觉特征

目的 使用中文版儿童感觉剖析量表探讨孤独谱系障碍(ASD)患儿的感觉特点.方法 采用中文版儿童感觉剖析量表对66例ASD患儿和66名健康发育儿童进行评定,由监护人完成.分析孤独症患儿与健康儿童在感觉方面的差异.结果 除感觉剖析量表的口腔感觉处理和影响活动水平的运动的调节部分外,ASD患儿在其他部分及全量表的得分均与健康儿童的差异有统计学意义(P<0.01).结论 除口腔感觉处理和影响活动水平的运动的调节外,ASD患儿的各项感觉特征与健康发育儿童均存在一定差异.中文版儿童感觉剖析量表对区别ASD患儿与健康发育儿童有一定的鉴别力.     

Everyday expressions of pain in children with and without autism spectrum disorder

BackgroundAnecdotal reports from parents suggest that their children with autism spectrum disorder (ASD) may have diminished pain experiences and expressions. In contrast, objective measures of pain have been used to document typical and enhanced expressions of pain in response to noxious stimuli (e.g., blood draw) among children with autism. The purpose of this study was to compare non-biased parental ratings of pain among children with and without ASD.MethodAs an everyday measure of pain, parents completed The Non-Communicating Children’s Pain Checklist (NCCPC-R) across two time windows (i.e., 2 h and 1 week) for 31 children with ASD and 19 children without ASD.ResultsThere were no significant group differences in everyday expressions of pain between children with and without ASD. However, in general, increased autism symptomology severity was associated with decreased parental ratings of pain expressions.ConclusionThese results continue to support a framework where children with ASD may have typical pain sensitivity, however, their expressions of pain may differ based on where individuals lie on the autism spectrum.     

孤独症谱系障碍儿童眼动研究进展

孤独症谱系障碍(ASD)是一组以社交障碍为主的神经发育性疾病,患病率呈逐年增加的趋势,且未见特效疗法,为此早诊断、早干预尤为重要.近些年,通过眼动技术研究,发现ASD在生命早期便存在异常的注视模式,有望将此作为ASD早期检测和诊断的生物标志物.现从ASD儿童异常的眼动模式、研究范式、大脑相关区域的联系及面孔加工四个方面,对ASD儿童运用眼动技术的研究文献进行梳理总结,阐述最新研究成果.     

Assessment of feeding problems in children with autism spectrum disorder

There is growing, but inconsistent, literature on feeding problems for children with Autism Spectrum Disorder. The purposes of this study were to (a) investigate the relation of feeding problems to autism severity, (b) assess the validity of parent-report questionnaires widely used to assess feeding problems in terms of their relation to systematic behavior observations, and (c) determine the relation between child feeding behavior and family mealtime environment. Thirty-eight children and their parents participated in the study. Parents completed questionnaires, and both parents and children participated in mealtime observations. Results indicated that autism severity predicted scores on a measure of feeding problems as well as the duration of negative vocalizations during meal observations. Food Frequency Questionnaires better predicted behavior during meals than the Brief Mealtime Autism Behavior Inventory. Family environment alone did not explain feeding difficulties.     

Gender dysphoria and autism spectrum disorder: A narrative review

Abstract

The current literature shows growing evidence of a link between gender dysphoria (GD) and autism spectrum disorder (ASD). This study reviews the available clinical and empirical data. A systematic search of the literature was conducted using the following databases: PubMed, Web of Science, PsycINFO and Scopus; utilizing different combinations of the following search terms: autism, autism spectrum disorder (ASD), Asperger’s disorder (AD), co-morbidity, gender dysphoria (GD), gender identity disorder (GID), transgenderism and transsexualism. In total, 25 articles and reports were selected and discussed. Information was grouped by found co-occurrence rates, underlying hypotheses and implications for diagnosis and treatment. GD and ASD were found to co-occur frequently – sometimes characterized by atypical presentation of GD, which makes a correct diagnosis and determination of treatment options for GD difficult. Despite these challenges there are several case reports describing gender affirming treatment of co-occurring GD in adolescents and adults with ASD. Various underlying hypotheses for the link between GD and ASD were suggested, but almost all of them lack evidence.     

Speech intonation in children with autism spectrum disorder

Objective: The prosody of children with autism spectrum disorder (ASD) has several abnormal features. We assessed the speech tone of children with ASD and of children with typical development (TD) by using a new quantitative acoustic analysis. Methods: Our study participants consisted of 63 children (26 with ASD and 37 with TD). The participants were divided into 4 groups based on their developmental features and age. We assessed the variety of the fundamental frequency (F0) pattern quantitatively, using pitch coefficient of variation (CV), considering the different F0 mean for each word. Results: (1) No significant difference was observed between the ASD and TD group at pre-school age. However, the TD group exhibited significantly greater pitch CV than the ASD group at school age. (2) In pitch CV, range and standard deviation of the whole speech of each participant, no significant differences were observed between the type of participants and age. (3) No significant correlation was found between the pitch CV of each word and the Japanese Autism Screening Questionnaire total score, or between the pitch CV of each word and the intelligence quotient levels in the ASD group. A significant correlation was observed between the pitch CV of each word and social reciprocal interaction score. Conclusions: We assessed the speech tone of children with ASD by using a new quantitative method. Monotonous speech in school-aged children with ASD was detected. The extent of monotonous speech was related to the extent of social reciprocal interaction in children with ASD.     

A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder

BackgroundCUL3 encodes cullin-3, a core component of a ubiquitin E3 ligase. CUL3 mutations have recently been associated with autism spectrum disorder (ASD); however, the detailed clinical courses have been described in only a limited number of patients with CUL3 mutations and neurodevelopmental diseases, including ASD.Case reportA 21-month-old Japanese girl presented with febrile status epilepticus and thereafter exhibited developmental regression, including loss of her verbal ability, eye contact, and skills in activities of daily living. Trio-based exome sequencing identified a de novo two-base insertion in CUL3, c.1758_1759insTG, p.(Thr587*).ConclusionWe report a case of a patient with ASD and a stop-gain CUL3 variant. Screening of CUL3 variants is worth considering for patients with ASD, especially those with Rett-like developmental regression.     

Response to second generation antipsychotics in youth with comorbid bipolar disorder and autism spectrum disorder

Objective: To assess the impact of comorbid autism spectrum disorders (ASD) on the response to second‐generation antipsychotics (SGA) in pediatric bipolar disorder (BPD). Methods: Secondary analysis of identically designed 8‐week open‐label trials of SGA monotherapy (risperidone, olanzapine, quetiapine, ziprasidone, or aripiprazole) in youth with BPD. Results: Of the 151 BPD subjects 15% (n= 23) met criteria for comorbid ASD. There were no differences in the rate of antimanic response (YMRS change ≥30% or CGI‐Improvement ≤2: 65% vs. 69%; P= 0.7) in the presence of comorbid ASD. Conclusion: No difference observed in the rate of antimanic response or tolerability to SGA monotherapy in the presence of ASD comorbidity.     

Women's posttraumatic stress symptoms and autism spectrum disorder in their children

Maternal posttraumatic stress disorder (PTSD) may be associated with autism spectrum disorder (ASD) in offspring through multiple pathways: maternal stress may affect the fetus; ASD in children may increase risk of PTSD in mothers; and the two disorders may share genetic risk. Understanding whether maternal PTSD is associated with child's ASD is important for clinicians treating children with ASD, as PTSD in parents is associated with poorer family functioning. We examined the association of maternal PTSD with offspring ASD in a large US cohort (N ASD cases = 413, N controls = 42,868). Mother's PTSD symptoms were strongly associated with child's ASD (RR 4–5 PTSD symptoms = 1.98, 95% CI = 1.39, 2.81; RR 6–7 symptoms = 2.89, 95% CI = 2.00, 4.18). Clinicians treating persons with ASD should be aware of elevated risk of PTSD in the mother. Genetic studies should investigate PTSD risk alleles in relation to ASD.