A case-control study of autism and mumps-measles-rubella vaccination using the general practice research database: design and methodology

BACKGROUND: An association between mumps-measles-rubella (MMR) vaccination and the onset of symptoms typical of autism has recently been suggested. This has led to considerable concern about the safety of the vaccine. METHODS: A matched case-control study using data derived form the United Kingdom General Practice Research Database. Children with a possible diagnosis of autism will be identified from their electronic health records. All diagnoses will be validated by a detailed review of hospital letters and by using information derived from a parental questionnaire. Ten controls per case will be selected from the database. Conditional logistic regression will be used to assess the association between MMR vaccination and autism. In addition case series analyses will be undertaken to estimate the relative incidence of onset of autism in defined time intervals after vaccination. The study is funded by the United Kingdom Medical Research Council. DISCUSSION: Electronic health databases offer tremendous opportunities for evaluating the adverse effects of vaccines. However there is much scope for bias and confounding. The rigorous validation of all diagnoses and the collection of additional information by parental questionnaire in this study are essential to minimise the possibility of misleading results

Prevalence of Autism Spectrum Disorders in Guanajuato, Mexico: The Leon survey

There are no epidemiological data on autism for Mexico. This study was conducted to generate a first estimate of ASD prevalence in Mexico. We surveyed children age eight in Leon (Guanajuato). The sample was stratified in two strata: (1) children having special education and medical records (SEMR; N = 432) and (2) children attending regular schools (GSS; N = 11,684). GSS children were screened with the SRS and those with the highest scores were invited to a diagnostic evaluation. The final sample comprised 36 children (80.6 % male) who had confirmed ASD. A third had intellectual disability, 25 % were non-verbal, 69 % had co-occurring behavioral problems. The prevalence overall was 0.87 % (95 % CI 0.62, 1.1 %). This survey provides an estimate for ASD prevalence in Mexico that is consistent with recent studies

Rate of first recorded diagnosis of autism and other pervasive developmental disorders in United Kingdom general practice, 1988 to 2001.

BACKGROUND: There has been concern that the incidence of autism and other pervasive developmental disorders (PDDs) is increasing. Previous studies have been smaller, restricted to autism (excluding other pervasive developmental disorders such as Asperger's syndrome), included boys only, or have not been based on a national sample. We investigated time trends in the rates of diagnosis of pervasive developmental disorders. METHODS: We analysed the rates of first diagnosis of pervasive developmental disorders among people registered with a practice contributing to the United Kingdom General Practice Research Database during the period 1988 to 2001. We included 1410 cases from over 14 million person-years of observation. The main outcome measures were rates of diagnosis of pervasive developmental disorders by year of diagnosis, year of birth, gender and geographical region. RESULTS: The rate increased progressively from 0.40/10,000 person-years (95% CI 0.30 to 0.54) in 1991 to 2.98/10,000 (95% CI 2.56 to 3.47) in 2001. A similar change occurred in the age standardised incidence ratios, from 35 (95% CI: 26-47) in 1991 to 365 (95% CI: 314-425) in 2001. The temporal increase was not limited to children born during specific years nor to children diagnosed in a specific time period. The rate of diagnosis of PDDs other than autism rose from zero for the period 1988-1992 to 1.06/10,000 person-years in 2001. The rate of diagnosis of autism also increased but to a lesser extent. There was marked geographical variation in rates, with standardised incidence ratios varying from 66 for Wales to 141 for the South East of England. CONCLUSIONS: Better ascertainment of diagnosis is likely to have contributed to the observed temporal increase in rates of diagnosis of PDD, but we cannot exclude a real increase

Telehealth Family Navigation for Early Autism Services Access: The Autism ALERT Project

Background: Delays in access to educational services for autism are common and more likely among children from families of color and/or with low income. In-person family navigation accelerates autism diagnosis; however, the effectiveness of telehealth autism diagnostic navigation is unknown. Objectives: To test preliminary feasibility and efficacy of a telehealth autism navigation program. Method: This was a site-randomized pilot trial of autism family navigation for Oregon children in 2021-2022. The intervention used layperson family resource specialists based at Oregon’s Help Me Grow program as navigators for families of children with autism symptoms. Pediatric clinics with \u3e30% Medicaid, located in 5 Oregon counties, were invited to enroll children in the study. 7 clinics (49 primary care providers [PCPs]) participated; 4 were randomized to the family navigation intervention and 3 to usual care. PCPs in both arms received training on autism screening and referral to medical/educational services. PCPs then referred any child age 1-55 months with a positive screen and/or provider autism concern to the study. For children in intervention arm clinics, the navigator called parents, providing information about autism and the autism diagnostic process, assistance with paperwork, social support, and appointment reminders. Control arm clinics/children received no calls. Study enrollment continued until 50 children (30 intervention, 20 control) enrolled. Child Early Intervention/Early Childhood Special Education (EI/ECSE) data were collected from Oregon’s state database 6 months after enrollment. Primary study outcomes compared intervention and control arms on: % of children receiving EI/ECSE referrals within 6 months, % receiving an evaluation in EI/ECSE within 6 months, time from enrollment to EI/ECSE evaluation, and % of evaluated children receiving an autism educational label within 6 months. Results: All clinics enrolled children; children were 40.8% (n=20) white, 26.5% (n=13) Latino, and 32.7% (n=9) multiracial and/or other race/ethnicity. 16% were female (n=8); median age was 2. Intervention families received a median of 12 navigator telehealth contacts. Overall, 70% (n=21) of intervention arm and 42% (n =8) of control arm families were successfully referred to EI/ECSE (p = 0.05). Of those referred, 86% (n=18) of intervention arm and 100% (n=8) of control arm children were evaluated in EI/ECSE (n.s.). Median time to EI/ECSE evaluation was 103 days in the intervention and 162 days in the control arm (p = 0.68; Figure 1). Overall, 40% of intervention arm (n = 12) and 21% (n = 4) of control arm children had an autism placement, with a trend toward autism as the primary placement type in the intervention arm (p = 0.12). Conclusion: Telehealth family navigation shows promise for improving access to autism services in EI/ECSE, especially for securing an early EI/ECSE evaluation, and increasing autism educational labels. A full-scale trial can investigate more distal outcomes including receipt of medical diagnosis and therapeutic services use

Bhatara, A., Quintin, E., Fombonne, E., Heaton, P. & Levitin, D. (2009).The Effects of Music on Social Attribution in Adolescents with Autism Spectrum Disorders. Child Neuropsychology, 13; 1 – 22.

High-functioning adolescents with ASD and matched controls were presented with animations that depicted varying levels of social interaction and were either accompanied by music or silent. Participants described the events of the animation, and we scored responses for intentionality, appropriateness, and length of description. Adolescents with ASD were less likely to make social attributions, especially for those animations with the most complex social interactions. When stimuli were accompanied by music, both groups were equally impaired in appropriateness and intentionality. We conclude that adolescents with ASD perceive and integrate musical soundtracks with visual displays equivalent to typically developing individuals

"The use of Arabic version of Social Communication Questionnaires (SCQ) in School Screening for Autism Spectrum Disorder (ASD) in Qatar"

Introduction: The prevalence rate of Autism Spectrum Disorder (ASD) in Qatar is uncertain, obtaining a reliable estimate is important in shedding the light on the magnitude of the problem, and help in better planning for providing the health care facilities needed for early detection and management of this disorder, since early intensive rehabilitation can improve the outcome of those affected tremendously. Aims of the study: To estimate the prevalence rate of ASD among children age 5-12 years residing in Qatar. Methodology: The research plan is to identify children with possible ASD among children attending ordinary primary schools as a "Low Probability Group", through using the Social Communication Questionnaires (SCQ), and those who score above the cut-off point will be further diagnosed using the Autism Diagnostic Interview-Revised (ADI-R) and/or the Autism Diagnostic Observation Schedule-2 (ADOS-2). Results: We worked on translating the English version of SCQ to Arabic, and we worked to validate this version through a pilot screening study that involved 35 cases of ASD and 778 controls from the schools. The pilot sample includes 813 (35 cases of ASD and 778 control children). The control children were selected in 8 schools, 3 for girls, 3 for boys and 2 mixed, between 14/6/2015 and 28/6/2015. The ASD children surveyed with the SCQ were selected from the Shafalla Center (N = 35). The boy: girl ratio was 4.0:1 (61/41; 80% male) in the ASD group. In the control group, the corresponding values were 0.59:1 (287/488; 35.9% male). The mean SCQ total score was significantly higher in cases as compared to controls (18.06 (SD = 7.2) vs 7.31 (SD = 5.2); p < .0001); as expected, the variability was larger in cases than in controls as illustrated by the standard deviations. Figure 1 shows the distribution of the SCQ scores in the total sample, and the distribution separately for cases and controls. A total of 93 children (22 cases, 71 controls) had scores equal or above the cut-off of 15; the remaining 13 cases (37.1% of the cases) had scores below the cut-off. Conclusions: The analysis to examine the overall performance of the SCQ showed excellent discrimination between cases and controls. An examination of the performance for each possible cut point on the SCQ showed that the sensitivity and specificity were optimal for the cut-offs of 10, compared to the published cut-off of the SCQ (15).qscienc

Common Genetic Variants, Acting Additively, Are a Major Source of Risk for Autism

Background: Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While rare and especially de novo genetic variation are known to affect liability, whether common genetic polymorphism plays a substantial role is an open question and the relative contribution of genes and environment is contentious. It is probable that the relative contributions of rare and common variation, as well as environment, differs between ASD families having only a single affected individual (simplex) versus multiplex families who have two or more affected individuals. Methods: By using quantitative genetics techniques and the contrast of ASD subjects to controls, we estimate what portion of liability can be explained by additive genetic effects, known as narrow-sense heritability. We evaluate relatives of ASD subjects using the same methods to evaluate the assumptions of the additive model and partition families by simplex/multiplex status to determine how heritability changes with status. Results: By analyzing common variation throughout the genome, we show that common genetic polymorphism exerts substantial additive genetic effects on ASD liability and that simplex/multiplex family status has an impact on the identified composition of that risk. As a fraction of the total variation in liability, the estimated narrow-sense heritability exceeds 60% for ASD individuals from multiplex families and is approximately 40% for simplex families. By analyzing parents, unaffected siblings and alleles not transmitted from parents to their affected children, we conclude that the data for simplex ASD families follow the expectation for additive models closely. The data from multiplex families deviate somewhat from an additive model, possibly due to parental assortative mating. Conclusions: Our results, when viewed in the context of results from genome-wide association studies, demonstrate that a myriad of common variants of very small effect impacts ASD liability

Common genetic variants, acting additively, are a major source of risk for autism

Abstract Background Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While rare and especially de novo genetic variation are known to affect liability, whether common genetic polymorphism plays a substantial role is an open question and the relative contribution of genes and environment is contentious. It is probable that the relative contributions of rare and common variation, as well as environment, differs between ASD families having only a single affected individual (simplex) versus multiplex families who have two or more affected individuals. Methods By using quantitative genetics techniques and the contrast of ASD subjects to controls, we estimate what portion of liability can be explained by additive genetic effects, known as narrow-sense heritability. We evaluate relatives of ASD subjects using the same methods to evaluate the assumptions of the additive model and partition families by simplex/multiplex status to determine how heritability changes with status. Results By analyzing common variation throughout the genome, we show that common genetic polymorphism exerts substantial additive genetic effects on ASD liability and that simplex/multiplex family status has an impact on the identified composition of that risk. As a fraction of the total variation in liability, the estimated narrow-sense heritability exceeds 60% for ASD individuals from multiplex families and is approximately 40% for simplex families. By analyzing parents, unaffected siblings and alleles not transmitted from parents to their affected children, we conclude that the data for simplex ASD families follow the expectation for additive models closely. The data from multiplex families deviate somewhat from an additive model, possibly due to parental assortative mating. Conclusions Our results, when viewed in the context of results from genome-wide association studies, demonstrate that a myriad of common variants of very small effect impacts ASD liability.http://deepblue.lib.umich.edu/bitstream/2027.42/112370/1/13229_2012_Article_55.pd