1. Begeer S, Gevers C, Clifford P, Verhoeve M, Kat K, Hoddenbach E, Boer F. {{Theory of Mind Training in Children with Autism: A Randomized Controlled Trial}}. {J Autism Dev Disord} (Oct 26)
Many children with Autism Spectrum Disorders (ASD) participate in social skills or Theory of Mind (ToM) treatments. However, few studies have shown evidence for their effectiveness. The current study used a randomized controlled design to test the effectiveness of a 16-week ToM treatment in 8-13 year old children with ASD and normal IQs (n = 40). The results showed that, compared to controls, the treated children with ASD improved in their conceptual ToM skills, but their elementary understanding, self reported empathic skills or parent reported social behaviour did not improve. Despite the effects on conceptual understanding, the current study does not indicate strong evidence for the effectiveness of a ToM treatment on the daily life mindreading skills.
2. Brown CM, Austin DW. {{Autistic disorder and phospholipids: A review}}. {Prostaglandins Leukot Essent Fatty Acids} (Oct 21)
Dysregulated phospholipid metabolism has been proposed as an underlying biological component of neurodevelopmental disorders such as autistic disorder (AD) and attention-deficit/hyperactivity disorder (ADHD). This review provides an overview of fatty acid and phospholipid metabolism and evidence for phospholipid dysregulation with reference to the membrane hypothesis of schizophrenia. While there is evidence that phospholipid metabolism is at least impaired in individuals with AD, it has not been established whether phospholipid metabolism is implicated in causal, mechanistic or epiphenomenological models. More research is needed to ascertain whether breastfeeding, and specifically, the administration of colostrum or an adequate substitute can play a preventative role by supplying the neonate with essential fatty acids (EFAs) at a critical juncture in their development. Regarding treatment, further clinical trials of EFA supplementation are essential to determine the efficacy of EFAs in reducing AD symptomatology and whether supplementation can serve as a cost-effective and readily available intervention.
3. D’Auria JP. {{Autism on the web: « oh, the places you’ll go! »}}. {J Pediatr Health Care} (Nov-Dec);24(6):e11-15.
4. Murphy DG, Beecham J, Craig M, Ecker C. {{Autism in adults. New biologicial findings and their translational implications to the cost of clinical services}}. {Brain Res} (Oct 19)
There is increasing evidence that children with autism spectrum disorder (ASD) have differences in brain growth trajectory. However, the neurobiological basis of ASD in adults is poorly understood.
5. Pagnamenta AT, Khan H, Walker S, Gerrelli D, Wing K, Bonaglia MC, Giorda R, Berney T, Mani E, Molteni M, Pinto D, Le Couteur A, Hallmayer J, Sutcliffe JS, Szatmari P, Paterson AD, Scherer SW, Vieland VJ, Monaco AP. {{Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability}}. {J Med Genet} (Oct 23)
Background Autism spectrum disorder (ASD) is characterised by impairments in social communication and by a pattern of repetitive behaviours, with learning disability (LD) typically seen in up to 70% of cases. A recent study using the PPL statistical framework identified a novel region of genetic linkage on chromosome 16q21 that is limited to ASD families with LD. Methods In this study, two families with autism and/or LD are described which harbour rare >1.6 Mb microdeletions located within this linkage region. The deletion breakpoints are mapped at base-pair resolution and segregation analysis is performed using a combination of 1M single nucleotide polymorphism (SNP) technology, array comparative genomic hybridisation (CGH), long-range PCR, and Sanger sequencing. The frequency of similar genomic variants in control subjects is determined through analysis of published SNP array data. Expression of CDH8, the only gene disrupted by these microdeletions, is assessed using reverse transcriptase PCR and in situ hybridisation analysis of 9 week human embryos. Results The deletion of chr16: 60 025 584-61 667 839 was transmitted to three of three boys with autism and LD and none of four unaffected siblings, from their unaffected mother. In a second family, an overlapping deletion of chr16: 58 724 527-60 547 472 was transmitted to an individual with severe LD from his father with moderate LD. No copy number variations (CNVs) disrupting CDH8 were observed in 5023 controls. Expression analysis indicates that the two CDH8 isoforms are present in the developing human cortex. Conclusion Rare familial 16q21 microdeletions and expression analysis implicate CDH8 in susceptibility to autism and LD.
6. Pieras JI, Munoz-Cabello B, Borrego S, Marcos I, Sanchez J, Madruga M, Antinolo G. {{Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male}}. {Brain Dev} (Oct 21)
Rett Syndrome (RS; MIM_312750) is a severe and progressive neurodevelopmental disorder affecting principally females. Mutations in X-Linked MECP2 gene (methyl CpG-binding protein 2; MIM_300005) have been reported as being the major cause of RS. Mutations in this gene have been described as cause of wide spectrum of neurological disorders and mental retardation in males. In some cases, mutations in MECP2 in males produce clinical picture similar to RS. Here we report the identification of the novel truncating mutation Y120X in a 4-year-old child with atypical RS phenotype. Chromosome analysis showed a normal karyotype, and blood DNA and tissue DNA analysis reveal a mosaic for the mutation. Patient’s mother DNA analysis showed that this is a de novo mutation, that has never been described before in any female or male case of RS.
7. Shriberg LD, Paul R, Black LM, van Santen JP. {{The Hypothesis of Apraxia of Speech in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord} (Oct 23)
In a sample of 46 children aged 4-7 years with Autism Spectrum Disorder (ASD) and intelligible speech, there was no statistical support for the hypothesis of concomitant Childhood Apraxia of Speech (CAS). Perceptual and acoustic measures of participants’ speech, prosody, and voice were compared with data from 40 typically-developing children, 13 preschool children with Speech Delay, and 15 participants aged 5-49 years with CAS in neurogenetic disorders. Speech Delay and Speech Errors, respectively, were modestly and substantially more prevalent in participants with ASD than reported population estimates. Double dissociations in speech, prosody, and voice impairments in ASD were interpreted as consistent with a speech attunement framework, rather than with the motor speech impairments that define CAS.
8. Wang L, Leslie DL. {{Health care expenditures for children with autism spectrum disorders in Medicaid}}. {J Am Acad Child Adolesc Psychiatry} (Nov);49(11):1165-1171.
OBJECTIVE: To study trends in health care expenditures associated with autism spectrum disorders (ASDs) in state Medicaid programs. METHOD: Using Medicaid data from 42 states from 2000 to 2003, patients aged 17 years and under who were continuously enrolled in fee-for-service Medicaid were studied. Patients with claims related to autistic disorder (autism) were identified, as were patients with claims for any ASD other than autism. Total expenditures per treated patient consisted of Medicaid reimbursements from inpatient, outpatient, and long-term care and prescription drugs. Inflation-adjusted expenditures were compared over time and with expenditures associated with other mental health disorders. RESULTS: A total of 2,184,677 children were diagnosed with some type of mental disorder during the study period. Of these children, 69,542 had an ASD, with 49,921 having autism and the rest having another ASD. Mean total health care expenditures per child with ASD were $22,079 in 2000 (in 2003 US dollars), and rose by 3.1% to $22,772 in 2003. The treated prevalence of autism per 10,000 covered lives rose by 32.2% from 40.6 to 53.6, the highest rate of increase among all mental disorders. Total health care expenditures for ASDs per 10,000 covered lives grew by 32.8% from $1,270,435 in 2000 (in 2003 dollars) to $1,686,938 in 2003. CONCLUSIONS: Medicaid-reimbursed health care expenditures for ASD were quite substantial. Although the per patient expenditures grew slightly over time, the large increase in treated prevalence caused a considerable rise in total ASD-associated health care expenditures.
9. Wilson CE, Brock J, Palermo R. {{Attention to social stimuli and facial identity recognition skills in autism spectrum disorder}}. {J Intellect Disabil Res} (Oct 26)
Background Previous research suggests that individuals with autism spectrum disorder (ASD) have a reduced preference for viewing social stimuli in the environment and impaired facial identity recognition. Methods Here, we directly tested a link between these two phenomena in 13 ASD children and 13 age-matched typically developing (TD) controls. Eye movements were recorded while participants passively viewed visual scenes containing people and objects. Participants also completed independent matching tasks for faces and objects. Results and Conclusions Behavioural data showed that participants with ASD were impaired on both face- and object-matching tasks relative to TD controls. Eye-tracking data revealed that both groups showed a strong bias to orient towards people. TD children spent proportionally more time looking at people than objects; however, there was no difference in viewing times between people and objects in the ASD group. In the ASD group, an individual’s preference for looking first at the people in scenes was associated with level of face recognition ability. Further research is required to determine whether a causal relationship exists between these factors.
