1. {{Prevalence of autism spectrum disorders – Autism and Developmental Disabilities Monitoring Network, United States, 2006}}. {MMWR Surveill Summ}. 2009 Dec 18;58(10):1-20.
PROBLEM/CONDITION: Autism spectrum disorders (ASDs) are a group of developmental disabilities characterized by atypical development in socialization, communication, and behavior. ASDs typically are apparent before age 3 years, with associated impairments affecting multiple areas of a person’s life. Because no biologic marker exists for ASDs, identification is made by professionals who evaluate a child’s developmental progress to identify the presence of developmental disorders. REPORTING PERIOD: 2006. METHODS: Earlier surveillance efforts indicated that age 8 years is a reasonable index age at which to monitor peak prevalence. The identified prevalence of ASDs in U.S. children aged 8 years was estimated through a systematic retrospective review of evaluation records in multiple sites participating in the Autism and Developmental Disabilities Monitoring (ADDM) Network. Data were collected from existing records in 11 ADDM Network sites (areas of Alabama, Arizona, Colorado, Florida, Georgia, Maryland, Missouri, North Carolina, Pennsylvania, South Carolina, and Wisconsin) for 2006. To analyze changes in identified ASD prevalence, CDC compared the 2006 data with data collected from 10 sites (all sites noted above except Florida) in 2002. Children aged 8 years with a notation of an ASD or descriptions consistent with an ASD were identified through screening and abstraction of existing health and education records containing professional assessments of the child’s developmental progress at health-care or education facilities. Children aged 8 years whose parent(s) or legal guardian(s) resided in the respective areas in 2006 met the case definition for an ASD if their records documented behaviors consistent with the Diagnostic and Statistical Manual of Mental Disorders, 4th edition, text revision (DSM-IV-TR) criteria for autistic disorder, pervasive developmental disorder–not otherwise specified (PDD NOS), or Asperger disorder. Presence of an identified ASD was determined through a review of data abstracted from developmental evaluation records by trained clinician reviewers. RESULTS: For the 2006 surveillance year, 2,757 (0.9%) of 307,790 children aged 8 years residing in the 11 ADDM sites were identified as having an ASD, indicating an overall average prevalence of 9.0 per 1,000 population (95% confidence interval [CI] = 8.6-9.3). ASD prevalence per 1,000 children aged 8 years ranged from 4.2 in Florida to 12.1 in Arizona and Missouri, with prevalence for the majority of sites ranging between 7.6 and 10.4. For 2006, ASD prevalence was significantly lower in Florida (p<0.001) and Alabama (p<0.05) and higher in Arizona and Missouri (p<0.05) than in all other sites. The ratio of males to females ranged from 3.2:1 in Alabama to 7.6:1 in Florida. ASD prevalence varied by type of ascertainment source, with higher average prevalence in sites with access to health and education records (10.0) compared with sites with health records only (7.5). Although parental or professional concerns regarding development before age 36 months were noted in the evaluation records of the majority of children who were identified as having an ASD, the median age of earliest documented ASD diagnosis was much later (range: 41 months [Florida]-60 months [Colorado]). Of 10 sites that collected data for both the 2002 and 2006 surveillance years, nine observed an increase in ASD prevalence (range: 27%-95% increase; p<0.01), with increases among males in all sites and among females in four of 11 sites, and variation among other subgroups. INTERPRETATION: In 2006, on average, approximately 1% or one child in every 110 in the 11 ADDM sites was classified as having an ASD (approximate range: 1:80-1:240 children [males: 1:70; females: 1:315]). The average prevalence of ASDs identified among children aged 8 years increased 57% in 10 sites from the 2002 to the 2006 ADDM surveillance year. Although improved ascertainment accounts for some of the prevalence increases documented in the ADDM sites, a true increase in the risk for children to develop ASD symptoms cannot be ruled out. On average, although delays in identification persisted, ASDs were being diagnosed by community professionals at earlier ages in 2006 than in 2002. PUBLIC HEALTH ACTIONS: These results indicate an increased prevalence of identified ASDs among U.S. children aged 8 years and underscore the need to regard ASDs as an urgent public health concern. Continued monitoring is needed to document and understand changes over time, including the multiple ascertainment and potential risk factors likely to be contributing. Research is needed to ascertain the factors that put certain persons at risk, and concerted efforts are essential to provide support for persons with ASDs, their families, and communities to improve long-term outcome.
2. Harada Y, Hayashida A, Hikita S, Imai J, Sasayama D, Masutani S, Tomita T, Saitoh K, Washizuka S, Amano N. {{Impact of behavioral/developmental disorders comorbid with conduct disorder}}. {Psychiatry Clin Neurosci}. 2009 Dec;63(6):762-8.
AIMS: The aim of the present study was to verify the comorbidity of conduct disorder (CD) and behavioral/developmental disorders in children and adolescents, and to examine the traits of CD comorbid with them. METHODS: Subjects were 64 children (60 boys, four girls) who were resident at three institutions for delinquent children or who were conduct-disordered outpatients of a university hospital aged under 18 years. A diagnostic interview was carried out by experienced child psychiatrists and the intelligence score and the Adverse Childhood Experiences score were measured by a licensed psychologist. RESULTS: A total of 57 children were diagnosed as having CD, of whom 26 (45.6%) were diagnosed with comorbid attention-deficit-hyperactivity disorder (ADHD), 12 were diagnosed with comorbid pervasive developmental disorder (PDD, 21,1%), and 19 (33.3%) had no comorbidity of either disorder. Six children (18.8% of CD comorbid with ADHD) met the criteria for both ADHD and PDD. The group with comorbid PDD was significantly younger at onset (F = 6.51, P = 0.003) and included unsocialized type more frequently (chi(2) = 6.66, P = 0.036) compared with the other two groups. CONCLUSIONS: Clinicians should be aware that not only ADHD but also PDD may be comorbid with CD. Establishment of the correct diagnosis is important because recognizing the presence of PDD will enable us to provide appropriate treatment and guidance, which may improve prognosis.
3. Hippler K, Viding E, Klicpera C, Happe F. {{Brief Report: No Increase in Criminal Convictions in Hans Asperger’s Original Cohort}}. {J Autism Dev Disord}. 2009 Dec 19.
Hans Asperger originally used the term « autistic psychopathy » to describe his patients on the autism spectrum, leading to a possible confusion with psychopathic disorder and delinquent behaviour. We conducted a penal register search for 177 former patients of Asperger’s clinic with a childhood diagnosis of « autistic psychopathy » or features of the disorder in Austria. The mean percentage of registered convictions was similar to that in the general male population of Austria over the studied time period. A qualitative assessment of offence types in Asperger’s former patients suggests that the nature of offences does not differ from that in the general population. In this original cohort of Asperger’s patients, convictions were no more common than in the general male population.
4. James WH. {{A potential cause of the reported increase in rates of autism}}. {Int J Epidemiol}. 2009 Dec 18.
5. Kenworthy L, Case L, Harms MB, Martin A, Wallace GL. {{Erratum to: Adaptive Behavior Ratings Correlate With Symptomatology and IQ Among Individuals With High-Functioning Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2009 Dec 22.
6. Raymaekers R, Wiersema JR, Roeyers H. {{EEG study of the mirror neuron system in children with high functioning autism}}. {Brain Res}. 2009 Dec 22;1304:113-21.
Individuals with Autism Spectrum Disorder (ASD) are characterised by an impaired imitation, thought to be critical for early affective, social and communicative development. One neurological system proposed to underlie this function is the mirror neuron system (MNS) and previous research has suggested a dysfunctional MNS in ASD. The EEG mu frequency, more precisely the reduction of the mu power, is considered to be an index for mirror neuron functioning. In this work, EEG registrations are used to evaluate the mirror neuron functioning of twenty children with high functioning autism (HFA) between 8 and 13 years. Their mu suppression to self-executed and observed movement is compared to typically developing peers and related to age, intelligence and symptom severity. Both groups show significant mu suppression to both self and observed hand movements. No group differences are found in either condition. These results do not support the hypothesis that HFA is associated with a dysfunctional MNS. The discrepancy with previous research is discussed in light of the heterogeneity of the ASD population.
7. van der Zwaag B, Staal WG, Hochstenbach R, Poot M, Spierenburg HA, de Jonge MV, Verbeek NE, van ‘t Slot R, van Es MA, Staal FJ, Freitag CM, Buizer-Voskamp JE, Nelen MR, van den Berg LH, van Amstel HK, van Engeland H, Burbach JP. {{A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder}}. {Am J Med Genet B Neuropsychiatr Genet}. 2009 Dec 22.
High resolution genomic copy-number analysis has shown that inherited and de novo copy-number variations contribute significantly to autism pathology, and that identification of small chromosomal aberrations related to autism will expedite the discovery of risk genes involved. Here, we report a microduplication of chromosome 15q11.2, spanning only four genes, co-segregating with autism in a Dutch pedigree, identified by SNP microarray analysis, and independently confirmed by FISH and MLPA analysis. Quantitative RT-PCR analysis revealed over 70% increase in peripheral blood mRNA levels for the four genes present in the duplicated region in patients, and RNA in situ hybridization on mouse embryonic and adult brain sections revealed that two of the four genes, CYFIP1 and NIPA1, were highly expressed in the developing mouse brain. These findings point towards a contribution of microduplications at chromosome 15q11.2 to autism, and highlight CYFIP1 and NIPA1 as autism risk genes functioning in axonogenesis and synaptogenesis. Thereby, these findings further implicate defects in dosage-sensitive molecular control of neuronal connectivity in autism. However, the prevalence of this microduplication in patient samples was statistically not significantly different from control samples (0.94% in patients vs. 0.42% controls, P = 0.247), which suggests that our findings should be interpreted with caution and indicates the need for studies that include large numbers of control subjects to ascertain the impact of these changes on a population scale. (c) 2009 Wiley-Liss, Inc.
8. Wu DJ, Wang NJ, Driscoll J, Dorrani N, Liu D, Sigman M, Schanen NC. {{Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report}}. {Mol Cytogenet}. 2009 Dec 18;2(1):27.
ABSTRACT: Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15. Here we describe a boy with a chromosome 15 duplication arising from a 3:1 segregation error of a paternally derived translocation between chromosome 15q13.2 and chromosome 9q34.12, which led to trisomy of chromosome 15pter-q13.2 and 9q34.12-qter.Using array comparative genome hybridization, we localized the breakpoints on both chromosomes and sequence homology suggests that the translocation arose from non-allelic homologous recombination involving the low copy repeats on chromosome 15. The child manifests many characteristics of the maternally-derived duplication chromosome 15 phenotype including developmental delays with cognitive impairment, autism, hypotonia and facial dysmorphisms with nominal overlap of the most general symptoms found in duplications of chromosome 9q34.This case suggests that biallelically expressed genes on proximal 15q contribute to the idic(15) autism phenotype.
