We evaluated the rate of autism spectrum disorder (ASD) in a group invited to a screening program compared to the rates in two groups who received usual care. The population eligible for screening ...was all children in Iceland registered for their 30-month well-child visits at primary healthcare centers (PHCs) from March 1, 2016, to October 31, 2017 (N = 7173). The PHCs in the capital area of Reykjavik were the units of cluster randomization. Nine PHCs were selected for intervention (invited group), while eight PHCs received usual care (control group 1). PHCs outside the capital area were without randomization (control group 2). An interdisciplinary team, including a pediatrician contributing with physical and neurological examination, a psychologist evaluating autism symptoms using a diagnostic instrument, and a social worker interviewing the parents, reached a consensus on the clinical diagnosis of ASD according to the ICD-10 diagnostic system. Children in the population were followed up for at least two years and 119 cases were identified. The overall cumulative incidence of ASD was 1.66 (95% confidence interval (CI): 1.37, 1.99). In the invited group the incidence rate was 2.13 (95% CI: 1.60, 2.78); in control group 1, the rate was 1.83 (95% CI: 1.31, 2.50); and in control group 2, the rate was 1.02 (95% CI: 0.66, 1.50). Although the rate of ASD was higher in the invited group than in the control groups, the wide confidence intervals prevented us from concluding definitively that the screening detected ASD more readily than usual care.
The Modified Checklist for Autism in Toddlers, Revised with Follow-up was validated on a population sample in Reykjavik, Iceland. The participants (
N
= 1585) were screened in well-child care at age ...30 months and followed up for at least 2 years to identify autism cases. The sensitivity, specificity, positive and negative predictive values were 0.62, 0.99, 0.72, and 0.99, respectively. True-positive children were diagnosed 10 months earlier than false-negative children. Autism symptom severity and the proportions of children with verbal and performance IQs/DQs < 70 were similar between groups. Although the sensitivity was suboptimal, the screening contributed to lowering the age at diagnosis for many children. Adding autism-specific screening to the well-child care program should be considered.
Autism spectrum disorder is a heritable developmental disorder in which chromosomal abnormalities are thought to play a role.
As a first component of a genomewide association study of families from ...the Autism Genetic Resource Exchange (AGRE), we used two novel algorithms to search for recurrent copy-number variations in genotype data from 751 multiplex families with autism. Specific recurrent de novo events were further evaluated in clinical-testing data from Children's Hospital Boston and in a large population study in Iceland.
Among the AGRE families, we observed five instances of a de novo deletion of 593 kb on chromosome 16p11.2. Using comparative genomic hybridization, we observed the identical deletion in 5 of 512 children referred to Children's Hospital Boston for developmental delay, mental retardation, or suspected autism spectrum disorder, as well as in 3 of 299 persons with autism in an Icelandic population; the deletion was also carried by 2 of 18,834 unscreened Icelandic control subjects. The reciprocal duplication of this region occurred in 7 affected persons in AGRE families and 4 of the 512 children from Children's Hospital Boston. The duplication also appeared to be a high-penetrance risk factor.
We have identified a novel, recurrent microdeletion and a reciprocal microduplication that carry substantial susceptibility to autism and appear to account for approximately 1% of cases. We did not identify other regions with similar aggregations of large de novo mutations.
Research providing an evidence-base for autistic adult services is sparse. The Autism Spectrum Disorders in the European Union (ASDEU) network implemented an on-line survey to determine gaps in ...autistic adult diagnostic evaluation and post-diagnostic support services. More than 55% in all groups experienced most of the recommended features for diagnostic evaluation for autistic adults. In contrast, < 2% of adults or carers, and < 21% of professionals experienced each of the recommended features for post-diagnostic support. In contrast to 61% of professionals, only about 30% of autistic adults and carers had knowledge of good local services models for autism diagnosis in adulthood. There are major differences between good practice guidelines for diagnostic and post-diagnostic care for autistic adults, and what is actually experienced by services users and professionals.
The Autism Spectrum Disorders in the European Union (ASDEU) survey investigated local services’ use experiences of autistic adults, carers and professionals with interventions for autistic adults. ...The majority of the 697 participants experienced recommended considerations prior to deciding on intervention and during the intervention plan and implementation. Psychosocial interventions were the most commonly experienced interventions, while pharmacological interventions NOT recommended for core autistic symptoms were reported by fairly large proportions of participants. Family interventions were experienced slightly more commonly by carers than adults or professionals. Less than the 26% of autistic adult responders who had experienced challenging behaviors reported receiving an intervention to change them. These results provide insights for improving gaps in service provision of interventions among autistic adults.
The persistence of common, heritable psychiatric disorders that reduce reproductive fitness is an evolutionary paradox. Here, we investigate the selection pressures on sequence variants that ...predispose to schizophrenia, autism, bipolar disorder, major depression and attention deficit hyperactivity disorder (ADHD) using genomic data from 150,656 Icelanders, excluding those diagnosed with these psychiatric diseases. Polygenic risk of autism and ADHD is associated with number of children. Higher polygenic risk of autism is associated with fewer children and older age at first child whereas higher polygenic risk of ADHD is associated with having more children. We find no evidence for a selective advantage of a high polygenic risk of schizophrenia or bipolar disorder. Rare copy-number variants conferring moderate to high risk of psychiatric illness are associated with having fewer children and are under stronger negative selection pressure than common sequence variants.
The original version of this article unfortunately contained a mistake in one of the co-author’s family name. The correct name should be María Victoria Martín-Cilleros instead of María Victoria ...Cilleros-Martín.
Background: Studies on early intervention have reported significant gains for many children with autism. Knowledge on how these children fare in adulthood is limited.
Objective: To examine long-term ...outcome of children with autism who received different forms of early intervention.
Method: Participants were 15 young people who had all been diagnosed with ICD-10 childhood autism during the preschool years. Five received intervention based on the UCLA model for early intensive behavioral intervention, and 10 received eclectic treatment. Participants were followed from their first autism diagnosis during the preschool years (time 1) to the age of six years (time 2). The participants are now in their twenties (time 3), and at this point in time, information on autism symptoms, co-occurring disorders, quality of life, functioning, participation, adaptive behavior, and overall outcome was gathered from parents. Six of the participants answered questionnaires on quality of life, functioning, and participation.
Results: The groups were comparable on all measures at time 1. Reassessment at time 2 showed that the early intensive behavioral intervention group had made significant gains in IQ, and that autism symptoms had decreased significantly, whereas such changes were not found for the eclectic treatment group. At time 3, most participants had considerable autism symptoms. Approximately half of them had received diagnosis of a co-occurring condition. Their quality of life and adaptive behavior was less favorable than that of the general population, but only a third had “poor” overall outcome. However, at time 3, hardly any differences were found between the groups.
Conclusions: To maintain gains made during the preschool years, appropriate intervention and services may need to be extended into adulthood. These services should take into account the perceived needs of the individual, as expressed by himself/herself and his/her family.
Prevalence of Autism in Iceland MAGNUSSON, Pall; SAEMUNDSEN, Evald
Journal of autism and developmental disorders,
04/2001, Letnik:
31, Številka:
2
Journal Article
Recenzirano
This clinic-based study estimated the prevalence of autism in Iceland in two consecutive birth cohorts, subjects born in 1974-1983 and in 1984-1993. In the older cohort classification was based on ...the ICD-9 in 72% of cases while in the younger cohort 89% of cases were classified according to the ICD-10. Estimated prevalence rates for Infantile autism/Childhood autism were 3.8 per 10,000 in the older cohort and 8.6 per 10,000 in the younger cohort. The characteristics of the autistic groups are presented in terms of level of intelligence, male:female ratio, and age at diagnosis. For the younger cohort scores on the Autism Diagnostic Interview-Revised and the Childhood Autism Rating Scale are reported as well. Results are compared with a previous Icelandic study and recent population-based studies in other countries based on the ICD-10 classification system. Methodological issues are discussed as well as implications for future research and service delivery.
The agreement between the Autism Diagnostic Interview-Revised (ADI- R) and the Childhood Autism Rating Scale (CARS) was investigated in the diagnostic assessment of 54 children (ages 22-114 months) ...referred for possible autism. The observed agreement between the two systems was 66.7%. The CARS identified more cases of autism than the ADI-R. (Contains references.) (Author/CR)
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