Prevalence of autism spectrum disorders among children (1-10 years of age) - findings of a mid-term report from Northwest India.

BACKGROUND: India is the second most populous country of the world. A large portion of the population of this country is below 20 years of age but still there is a paucity of information about the prevalence and incidence of many developmental disorders. This study was planned to estimate the prevalence of autism spectrum disorders (ASDs) in the selected areas (tribal, rural, and urban) of a northern state of India, Himachal Pradesh. METHODS: A cross-sectional two-phase study was conducted covering all the children in the range of 1-10 years of age. Phase one included screening of all the children in the age group of 1-10 years, with the help of an indigenous assessment tool for autism. The sociodemographic profile of the participants was also recorded during phase one. Phase two involved the clinical evaluation of individuals who were suspected of autism on screening. RESULTS: The results show a prevalence rate of 0.9/1000. The highest prevalence rate was observed in the rural area. CONCLUSIONS: Socioeconomic status (SES) may be one of the fundamental indicators for ASDs in India.

Genetic association analyses of neuregulin 1 gene polymorphism with endopheontype for sociality of Korean autism spectrum disorders family.

To determine the genetic association between qualitative and quantitative traits of autism spectrum disorder (ASD) and neuregulin 1 (NRG1)-a schizophrenia candidate gene-we examined six single nucleotide polymorphisms (SNPs) in NRG1 using a family-based association test (FBAT) in Korean families with ASD. rs35753505 and rs6994992 SNPs in NRG1 revealed a statistically significant family-based association with three quantitative traits for sociality.

No Association between Obesity and Behavior in Low-income, Preschool Latino Children.

BACKGROUND: The relationship between behavioral problems and obesity in early childhood in Latinos is largely unknown. METHODS: Cross-sectional anthropometric and behavioral data of children at three years of age were gathered from a cohort of 174 children of Latina mothers at two San Francisco hospitals. Child behaviors were assessed using the preschool Child Behavior Checklist (CBCL/1½-5). Logistic regression was used to analyze the association between behavior and obesity. RESULTS: At three years, 27.7% were obese. There were no associations between affective (OR = 1.89; 95% confidence interval [CI] 0.42-8.59), anxiety (OR = 1.86; 95% CI 0.53-6.47), pervasive developmental (OR = 0.42; 95% CI 0.13-1.36), attention deficit hyperactivity (OR = 0.58; 95% CI 0.12-2.76), or oppositional defiant (OR = 6.49; 95% CI 0.65-64.49) problems and obesity. CONCLUSIONS: Though psychological problems and obesity are associated among older children and adolescents, there was no association in Latino three-year olds in a low-income sample.

Parental wellbeing of Iranian families with children who have developmental disabilities.

To date, most research with families who have a child with developmental disabilities has been undertaken in English speaking countries. Poorer health, allied with increased levels of stress has been commonly reported for mothers but less is known about the impact on fathers and on overall family functioning. This study aimed to document the correlates of these parental impacts with Iranian mothers and fathers who had children with either intellectual disabilities (ID) or with autism spectrum disorders (ASD). In all 121 parents (69 mothers and 52 fathers from 94 families) who had a child with a diagnosis of ADS, along with 115 parents of children with ID (83 mothers and 32 fathers from 101 families) volunteered to take part in the study. Each participant completed through interview standardised rating scales of parenting stress, emotional well-being, family functioning and satisfaction with caring role along with demographic information and details of informal supports. Structural Equation Modeling identified that family functioning was much poorer in families whose child had ASD and both mothers and fathers reported higher levels of stress. Poorer emotional well-being contributed to higher stress and was more frequent among mothers, single parents and those whose children had behaviour problems. Having other dependents living at home and more sources of informal support improved the emotional wellbeing of parents but not their stress or family functioning. Parents who derived greater satisfaction from their caring role tended to have better emotional health and less stress. Although the impact on Iranian parents of having a child with developmental disabilities is broadly similar to those of parents in other cultures, there are indications that children with ASD present distinct challenges to these families. The model derived in this study is a useful guide both for further research as well as family-centred interventions.

Comparison between a Mandarin Chinese version of the Childhood Autism Spectrum Test and the Clancy Autism Behaviour Scale in mainland China.

A Mandarin Chinese version of the Childhood Autism Spectrum Test (CAST) and Clancy Autism Behaviour Scale (CABS) were applied to 150 children aged 4-11 years old from clinical settings and mainstream schools in Beijing. All the children were further assessed using the Autism Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R). The validity of two instruments on screening of ASC was examined and compared using receiver operating characteristic (ROC) curve analysis. The validity of CAST (sensitivity: 89%, specificity: 80%, PPV: 70%) was better than the CABS (sensitivity: 58%, specificity: 84%, PPV: 65%). The area under the curve (AUC) of the CAST (AUC=0.90) was significantly higher than the CABS (AUC=0.79, p=0.0002). The Mandarin CAST demonstrated a better validity in distinguishing children with ASC from children without ASC. It is an acceptable candidate as a screening instrument for ASC in large epidemiological study in Chinese population.

Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2010.

PROBLEM/CONDITION: Autism spectrum disorder (ASD). PERIOD COVERED: 2010. DESCRIPTION OF SYSTEM: The Autism and Developmental Disabilities Monitoring (ADDM) Network is an active surveillance system in the United States that provides estimates of the prevalence of ASD and other characteristics among children aged 8 years whose parents or guardians live in 11 ADDM sites in the United States. ADDM surveillance is conducted in two phases. The first phase consists of screening and abstracting comprehensive evaluations performed by professional providers in the community. Multiple data sources for these evaluations include general pediatric health clinics and specialized programs for children with developmental disabilities. In addition, most ADDM Network sites also review and abstract records of children receiving special education services in public schools. The second phase involves review of all abstracted evaluations by trained clinicians to determine ASD surveillance case status. A child meets the surveillance case definition for ASD if a comprehensive evaluation of that child completed by a qualified professional describes behaviors consistent with the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) diagnostic criteria for any of the following conditions: autistic disorder, pervasive developmental disorder-not otherwise specified (including atypical autism), or Asperger disorder. This report provides updated prevalence estimates for ASD from the 2010 surveillance year. In addition to prevalence estimates, characteristics of the population of children with ASD are described. RESULTS: For 2010, the overall prevalence of ASD among the ADDM sites was 14.7 per 1,000 (one in 68) children aged 8 years. Overall ASD prevalence estimates varied among sites from 5.7 to 21.9 per 1,000 children aged 8 years. ASD prevalence estimates also varied by sex and racial/ethnic group. Approximately one in 42 boys and one in 189 girls living in the ADDM Network communities were identified as having ASD. Non-Hispanic white children were approximately 30% more likely to be identified with ASD than non-Hispanic black children and were almost 50% more likely to be identified with ASD than Hispanic children. Among the seven sites with sufficient data on intellectual ability, 31% of children with ASD were classified as having IQ scores in the range of intellectual disability (IQ ≤70), 23% in the borderline range (IQ = 71-85), and 46% in the average or above average range of intellectual ability (IQ >85). The proportion of children classified in the range of intellectual disability differed by race/ethnicity. Approximately 48% of non-Hispanic black children with ASD were classified in the range of intellectual disability compared with 38% of Hispanic children and 25% of non-Hispanic white children. The median age of earliest known ASD diagnosis was 53 months and did not differ significantly by sex or race/ethnicity. INTERPRETATION: These findings from CDC's ADDM Network, which are based on 2010 data reported from 11 sites, provide updated population-based estimates of the prevalence of ASD in multiple communities in the United States. Because the ADDM Network sites do not provide a representative sample of the entire United States, the combined prevalence estimates presented in this report cannot be generalized to all children aged 8 years in the United States population. Consistent with previous reports from the ADDM Network, findings from the 2010 surveillance year were marked by significant variations in ASD prevalence by geographic area, sex, race/ethnicity, and level of intellectual ability. The extent to which this variation might be attributable to diagnostic practices, underrecognition of ASD symptoms in some racial/ethnic groups, socioeconomic disparities in access to services, and regional differences in clinical or school-based practices that might influence the findings in this report is unclear. PUBLIC HEALTH ACTION: ADDM Network investigators will continue to monitor the prevalence of ASD in select communities, with a focus on exploring changes within these communities that might affect both the observed prevalence of ASD and population-based characteristics of children identified with ASD. Although ASD is sometimes diagnosed by 2 years of age, the median age of the first ASD diagnosis remains older than age 4 years in the ADDM Network communities. Recommendations from the ADDM Network include enhancing strategies to address the need for 1) standardized, widely adopted measures to document ASD severity and functional limitations associated with ASD diagnosis; 2) improved recognition and documentation of symptoms of ASD, particularly among both boys and girls, children without intellectual disability, and children in all racial/ethnic groups; and 3) decreasing the age when children receive their first evaluation for and a diagnosis of ASD and are enrolled in community-based support systems.

Standardized screening facilitates timely diagnosis of autism spectrum disorders in a diverse sample of low-risk toddlers.

OBJECTIVE: Routine, standardized screening for autism spectrum disorder (ASD) has been hypothesized to reduce known racial/ethnic and socioeconomic status (SES) disparities in age of first diagnosis. This study explored demographic differences in toddlers' age and performance on developmental measures at the time of ASD assessment. METHOD: Toddlers (16-39 months at evaluation) who screened at-risk for developmental delay on the Modified Checklist for Autism in Toddlers (M-CHAT) or M-CHAT-Revised (M-CHAT-R) and follow-up interview participated in a diagnostic assessment. Of these, 44.7% were racial/ethnic minorities and 53.5% were non-minorities. Child race/ethnicity, years of maternal education (MEd), and household yearly income (YI) were parent-reported. RESULTS: Small but significant correlations were observed between MEd or YI and evaluation age and adaptive communication, socialization, and motor scores. Controlling for MEd and YI, minority racial/ethnic group did not predict child's performance on most measures and did not predict likelihood of ASD diagnosis. Differences in age at evaluation and receptive language skills were small effects. CONCLUSION: Significant but small effects emerged for SES and minority status on toddlers' age at evaluation and parent-reported adaptive skills, but these did not predict ASD diagnosis. The small magnitude of these effects suggests that routine, standardized screening for ASD in toddlers and timely access to diagnostic evaluation can reduce disparities in age at diagnosis and possibly reduce racial/ethnic disparities in access to services for ASD and other developmental delays.

Marital satisfaction of Chinese mothers of children with autism and intellectual disabilities in Hong Kong.

BACKGROUND: Previous research showed an association among perceived stigma, perceived caregiving burden and marital satisfaction of mothers. However, little is known about their relationship among mothers of young children with disabilities in the Chinese context. The mediating role of perceived caregiving burden between perceived stigma and marital satisfaction was seldom explored. Hence, the present study aims to investigate the relationship between perceived stigma, perceived caregiving burden and marital satisfaction of Chinese mothers of children with intellectual disabilities or autism spectrum disorders in Hong Kong. METHODS: A cross-sectional survey using convenience sampling was conducted with mothers of pre-school children with disabilities aged from 2 to 6. A total of 160 completed questionnaires were collected from five special child care centres in Hong Kong. RESULTS: The findings in the hierarchical regression analyses showed that perceived stigma and perceived caregiving burden were significant predictors of mothers' marital satisfaction. Perceived burden, including perceived social burden, emotional burden and developmental burden but excluding time-dependence and physical burden, were found to be significant mediators between perceived stigma and marital satisfaction. CONCLUSION: To address the negative consequences brought on by stigma, measures can be taken to prevent stigmatisation and minimise the harmful effects. To alleviate mothers' perceived burden, Acceptance and Commitment Therapy, mutual support groups and psycho-educational and skills training programmes can be conducted for the mothers.

Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders.

Autism spectrum disorders (ASD) are heterogeneous disorders with a high heritability and complex genetic architecture. Due to the central role of the fragile X mental retardation gene 1 protein (FMRP) pathway in ASD we investigated common functional variants of ASD risk genes regulating FMRP. We genotyped ten SNPs in two German patient sets (N = 192 and N = 254 families, respectively) and report association for rs7170637 (CYFIP1; set 1 and combined sets), rs6923492 (GRM1; combined sets), and rs25925 (CAMK4; combined sets). An additional risk score based on variants with an odds ratio (OR) >1.25 in set 1 and weighted by their respective log transmitted/untransmitted ratio revealed a significant effect (OR 1.30, 95 % CI 1.11-1.53; P = 0.0013) in the combined German sample. A subsequent meta-analysis including the two German samples, the "Strict/European" ASD subsample of the Autism Genome Project (1,466 families) and a French case/control (541/366) cohort showed again association of rs7170637-A (OR 0.85, 95 % CI 0.75-0.96; P = 0.007) and rs25925-G (OR 1.31, 95 % CI 1.04-1.64; P = 0.021) with ASD. Functional analyses revealed that these minor alleles predicted to alter splicing factor binding sites significantly increase levels of an alternative mRNA isoform of the respective gene while keeping the overall expression of the gene constant. These findings underpin the role of ASD candidate genes in postsynaptic FMRP regulation suggesting that an imbalance of specific isoforms of CYFIP1, an FMRP interaction partner, and CAMK4, a transcriptional regulator of the FMRP gene, modulates ASD risk. Both gene products are related to neuronal regulation of synaptic plasticity, a pathomechanism underlying ASD and may thus present future targets for pharmacological therapies in ASD.

A Danish population-based twin study on autism spectrum disorders.

Genetic epidemiological studies of Autism Spectrum Disorders (ASDs) based on twin pairs ascertained from the population and thoroughly assessed to obtain a high degree of diagnostic validity are few. All twin pairs aged 3-14 years in the nationwide Danish Twin Registry were approached. A three-step procedure was used. Five items from the "Child Behaviour Checklist" (CBCL) were used in the first screening phase, while screening in the second phase included the "Social and Communication Questionnaire" and the "Autism Spectrum Screening Questionnaire". The final clinical assessment was based on "gold standard" diagnostic research procedures including diagnostic interview, observation and cognitive examination. Classification was based on DSM-IV-TR criteria. The initial sample included 7,296 same-sexed twin pairs and, after two phases of screening and clinical assessment, the final calculations were based on 36 pairs. The probandwise concordance rate for ASD was 95.2% in monozygotic (MZ) twins (n=13 pairs) and 4.3% in dizygotic (DZ) twins (n=23 pairs). The high MZ and low DZ concordance rate support a genetic aetiology to ASDs.

Investigating the cross-cultural validity of DSM-5 autism spectrum disorder: evidence from Finnish and UK samples.

The recent Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5) reformulation of autism spectrum disorder has received empirical support from North American and UK samples. Autism spectrum disorder is an increasingly global diagnosis, and research is needed to discover how well it generalises beyond North America and the United Kingdom. We tested the applicability of the DSM-5 model to a sample of Finnish young people with autism spectrum disorder (n = 130) or the broader autism phenotype (n = 110). Confirmatory factor analysis tested the DSM-5 model in Finland and compared the fit of this model between Finnish and UK participants (autism spectrum disorder, n = 488; broader autism phenotype, n = 220). In both countries, autistic symptoms were measured using the Developmental, Diagnostic and Dimensional Interview. Replicating findings from English-speaking samples, the DSM-5 model fitted well in Finnish autism spectrum disorder participants, outperforming a Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition (DSM-IV) model. The DSM-5 model fitted equally well in Finnish and UK autism spectrum disorder samples. Among broader autism phenotype participants, this model fitted well in the United Kingdom but poorly in Finland, suggesting that cross-cultural variability may be greatest for milder autistic characteristics. We encourage researchers with data from other cultures to emulate our methodological approach, to map any cultural variability in the manifestation of autism spectrum disorder and the broader autism phenotype. This would be especially valuable given the ongoing revision of the International Classification of Diseases-11th Edition, the most global of the diagnostic manuals.

Increasing autism prevalence in metropolitan New Jersey.

High baseline autism spectrum disorder prevalence estimates in New Jersey led to a follow-up surveillance. The objectives were to determine autism spectrum disorder prevalence in the year 2006 in New Jersey and to identify changes in the prevalence of autism spectrum disorder or in the characteristics of the children with autism spectrum disorder, between 2002 and 2006. The cohorts included 30,570 children, born in 1998 and 28,936 children, born in 1994, residing in Hudson, Union, and Ocean counties, New Jersey. Point prevalence estimates by sex, ethnicity, autism spectrum disorder subtype, and previous autism spectrum disorder diagnosis were determined. For 2006, a total of 533 children with autism spectrum disorder were identified, consistent with prevalence of 17.4 per 1000 (95% confidence interval = 15.9-18.9), indicating a significant increase in the autism spectrum disorder prevalence (p < 0.001), between 2002 (10.6 per 1000) and 2006. The rise in autism spectrum disorder was broad, affecting major demographic groups and subtypes. Boys with autism spectrum disorder outnumbered girls by nearly 5:1. Autism spectrum disorder prevalence was higher among White children than children of other ethnicities. Additional studies are needed to specify the influence of better awareness of autism spectrum disorder prevalence estimates and to identify possible autism spectrum disorder risk factors. More resources are necessary to address the needs of individuals affected by autism spectrum disorder.

Pediatrician identification of Latino children at risk for autism spectrum disorder.

BACKGROUND AND OBJECTIVES: Latino-white disparities in age at autism spectrum disorder (ASD) diagnosis may be modified by primary care pediatrician (PCP) practices and beliefs. The objectives of this study were to assess ASD and developmental screening practices, attitudes toward ASD identification in Latino children, and barriers to ASD identification for Latino children, in a sample of 267 California PCPs. METHODS: In mail-based PCP survey, we assessed rates of bilingual general developmental and ASD screening, perceptions of parent ASD knowledge in Latino and white families, reports of difficulty assessing for ASDs in Latino and white children, and perceptions of barriers to early ASD identification for Latinos. RESULTS: Although 81% of PCPs offered some form of developmental screening, 29% of PCPs offered Spanish ASD screening per American Academy of Pediatrics guidelines, and only 10% offered both Spanish general developmental and Spanish ASD screening per American Academy of Pediatrics guidelines. Most PCPs thought that Latino (English and Spanish primary family language) parents were less knowledgeable about ASDs than white parents. PCPs had more difficulty assessing ASD risk for Latino children with Spanish primary family language than for white children, even when the PCP conducted recommended ASD screening or had >25% Latino patients. The most frequent barrier to ASD identification in Latinos was access to developmental specialists. CONCLUSIONS: Multiple factors in the primary care setting may contribute to delayed ASD identification for Latinos. Promoting language-appropriate screening, disseminating culturally appropriate ASD materials to Latino families, improving the specialist workforce, and providing PCP support in screening and referral of Latino children may be important ways to reduce racial and ethnic differences in care.

Catechol-O-methyltransferase Val158Met polymorphism and risk of autism spectrum disorders.

OBJECTIVE: Autism spectrum disorders (ASD) are a family of childhood-onset neurodevelopmental disorders with complex genetic mechanisms underlying their aetiology. The aim of this case-control study was to evaluate the effect of the catechol-O-methyltransferase (COMT) gene Val158Met polymorphism on ASD risk in a Chinese Han population. METHODS: The COMT gene Val158Met polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism in children (≤ 18 years old) with ASD and healthy control subjects. RESULTS: The frequency of the Val158/Val158 genotype in children with ASD (22/186; 11.8%) was significantly lower than in controls (38/186; 20.4%). When stratifying by select-item scores on the Autism Diagnostic Interview-Revised protocol, it was found that children with 'current overactivity' and 'ever overactivity' had a significantly lower frequency of the Val158/Val158 genotype than those without. There were no significant associations between the COMT gene Val158Met polymorphism and ASD subtypes. CONCLUSIONS: The COMT gene Val158Met polymorphism may be a biomarker for phenotypic variation in ASD, but these preliminary findings remain tentative, pending replication in larger, independent samples.

Psychometric properties of the Chinese version of the Autism Spectrum Quotient (AQ).

The Autism Spectrum Quotient (AQ) has been widely used for measuring autistic characteristics in parents of children with autism spectrum disorders (ASD). Nonetheless, its psychometric validity is yet to be justified. This study tested the factor structure of the AQ by means of principal component analysis and confirmatory factor analysis using, for the first time, data from 4192 Taiwanese parents (1208 with ASD children and 2984 with typically developing children). Results yielded a 35-item, 5-dimensional factor solution that had favorable psychometric characteristics (RMSEA = .054; NNFI = .962; CFI = .969) than any of the previously-published AQ factor solutions. Subscales of this new AQ-Chinese model were statistically and semantically coherent, namely: Socialness, Mindreading, Patterns, Attention to Details and Attention Switching. The psychometric properties of the AQ-Chinese did not change between clinic-based and community-based data suggesting good fitting for a continuum of autistic expression. Furthermore, the considerable overlap between the AQ-Chinese and the AQ factor structures derived previously using student samples indicated consistency in the manifestation of the autistic profile across different cultures and age groups. Group differences in the AQ-Chinese scores were in line with previous studies, i.e. males generally scored radically higher than females except in Attention to Details. Interestingly, mothers of ASD children reported lower total AQ scores than community mothers yet no significant group difference for the fathers. Important research and clinical implications pertinent to parents with children with ASD and the utility of the AQ were drawn.

A review of healthcare service and education provision of Autism Spectrum Condition in mainland China.

Little is known about the current situation regarding Autism Spectrum Conditions in mainland China. Electronic databases and bibliographies were searched to identify literature on service provision for ASC in both English and Chinese databases. 14 studies and 6 reports were reviewed. The findings of identified papers on service provision were summarized according to four settings for ASC including healthcare, mainstream education, private special education, and state-run special education. The literature on the situation of the healthcare system and educational services for children with ASC in China was profoundly limited. There were great financial problems faced by the parents of autistic children which were partly due to the under-developed healthcare and educational system for ASC.

Prevalence and incidence of autism spectrum disorder in an Israeli population.

The prevalence of autism spectrum disorders has been steadily rising. In most parts of the world, rates as high as 1 % are reported, including in the United States. In Israel, previously reported prevalence rates have been in the 0.2 % range, and were based on parental reporting of diagnosis. In this study, records from one of the largest Israeli Health Maintenance organizations were used to calculate both incidence and prevalence of autism spectrum disorder (ASD) in Israel. Israeli prevalence of ASD was calculated at 0.48 % for 1-12 years olds and 0.65 % for 8 year old children in 2010, higher than previous Israeli reports, but still lower than prevalence estimates for the US. Incidence calculations ranged from 0.65 to 0.84 per 1,000 children for children 1-12 year olds. Reasons for these differences are suggested and discussed.

Issues in bilingualism and heritage language maintenance: perspectives of minority-language mothers of children with autism spectrum disorders.

PURPOSE: The author investigated the language practices of 10 bilingual, Chinese/English-speaking, immigrant mothers with their children with autism spectrum disorders. The aim was to understand (a) the nature of the language practices, (b) their constraints, and (c) their impact. METHOD: The author employed in-depth phenomenological interviews with thematic and narrative analyses to yield themes. RESULTS: Interviewees reported that they adopted language practices perceived to be advantageous to intervention access and wellness. They valued Chinese language but did not pursue its use if it was believed to hinder the children's overall development of English acquisition. All of the mothers believed that bilingualism made learning more challenging. Many believed that it caused confusion or exacerbated disabilities. These deficit views of bilingualism were commonly reinforced by professionals. All of the mothers were motivated to help their children learn English but had no assistance to do so. Practices were sustainable only when they were aligned with families' preferred communication patterns. CONCLUSIONS: There is an urgent need for practitioners to be better informed about issues related to intergenerational language practices in minority-language families. Language use between parents and children is a complex matter that is unique to each family. Parents need to be supported to make language use decisions that are self-enhancing and congruent with their families' needs.