1. Benvenuto A, Manzi B, Alessandrelli R, Galasso C, Curatolo P. {{Recent advances in the pathogenesis of syndromic autisms}}. {Int J Pediatr};2009;2009:198736.

Background. Current advances in genetic technology continue to expand the list of medical conditions associated with autism. Clinicians have to identify specific autistic-related syndromes, and to provide tailored counseling. The aim of this study is to elucidate recent advances in autism research that offer important clues into pathogenetic mechanisms of syndromic autism and relevant implications for clinical practice. Data Sources. The PubMed database was searched with the keywords « autism » and « chromosomal abnormalities, » « metabolic diseases, » « susceptibility loci. » Results. Defined mutations, genetic syndromes, and metabolic diseases account for up to 20% of autistic patients. Metabolic and mitochondrial defects may have toxic effects on the brain cells, causing neuronal loss and altered modulation of neurotransmission systems. Alterations of the neocortical excitatory/inhibitory balance and perturbations of interneurons’ development represent the most probable pathogenetic mechanisms underlying the autistic phenotype in Fragile X-Syndrome and Tuberous Sclerosis Complex. Chromosomal abnormalities and potential candidate genes are strongly implicated in the disruption of neural connections, brain growth, and synaptic/dendritic morphology. Conclusion. Metabolic testing may be appropriate if specific symptoms are present. High-resolution chromosome analysis may be recommended if a specific diagnosis is suspected because of obvious dysmorphisms. Identifying cryptic chromosomal abnormalities by whole genome microarray analysis can increase the understanding of the neurobiological pathways to autism.

2. Brun CC, Nicolson R, Lepore N, Chou YY, Vidal CN, DeVito TJ, Drost DJ, Williamson PC, Rajakumar N, Toga AW, Thompson PM. {{Mapping brain abnormalities in boys with autism}}. {Hum Brain Mapp};2009 (Dec);30(12):3887-3900.

Children with autism spectrum disorder (ASD) exhibit characteristic cognitive and behavioral differences, but no systematic pattern of neuroanatomical differences has been consistently found. Recent neurodevelopmental models posit an abnormal early surge in subcortical white matter growth in at least some autistic children, perhaps normalizing by adulthood, but other studies report subcortical white matter deficits. To investigate the profile of these alterations in 3D, we mapped brain volumetric differences using a relatively new method, tensor-based morphometry. 3D T1-weighted brain MRIs of 24 male children with ASD (age: 9.5 years +/- 3.2 SD) and 26 age-matched healthy controls (age: 10.3 +/- 2.4 SD) were fluidly registered to match a common anatomical template. Autistic children had significantly enlarged frontal lobes (by 3.6% on the left and 5.1% on the right), and all other lobes of the brain were enlarged significantly, or at trend level. By analyzing the applied deformations statistically point-by-point, we detected significant gray matter volume deficits in bilateral parietal, left temporal and left occipital lobes (P = 0.038, corrected), trend-level cerebral white matter volume excesses, and volume deficits in the cerebellar vermis, adjacent to volume excesses in other cerebellar regions. This profile of excesses and deficits in adjacent regions may (1) indicate impaired neuronal connectivity, resulting from aberrant myelination and/or an inflammatory process, and (2) help to understand inconsistent findings of regional brain tissue excesses and deficits in autism.

3. Cook J, Saygin AP, Swain R, Blakemore SJ. {{Reduced sensitivity to minimum-jerk biological motion in autism spectrum conditions}}. {Neuropsychologia};2009 (Dec);47(14):3275-3278.

We compared psychophysical thresholds for biological and non-biological motion detection in adults with autism spectrum conditions (ASCs) and controls. Participants watched animations of a biological stimulus (a moving hand) or a non-biological stimulus (a falling tennis ball). The velocity profile of the movement was varied between 100% natural motion (minimum-jerk (MJ) for the hand; gravitational (G) for the ball) and 100% constant velocity (CV). Participants were asked to judge which animation was ‘less natural’ in a two-interval forced-choice paradigm and thresholds were estimated adaptively. There was a significant interaction between group and condition. Thresholds in the MJ condition were lower than in the G condition for the NC group whereas there was no difference between the thresholds in the two conditions for the ASC group. Thus, unlike the controls, the ASC group did not show an increased sensitivity for perturbation to biological over non-biological velocity profiles.

4. Coury D, Jones NE, Klatka K, Winklosky B, Perrin JM. {{Healthcare for children with autism: the Autism Treatment Network}}. {Curr Opin Pediatr};2009 (Dec);21(6):828-832.

PURPOSE OF REVIEW: Autism spectrum disorders (ASDs) are a group of a neurodevelopmental disorders affecting social, communicative, and behavioral functioning. ASD is a heterogeneous group of disorders, often accompanied by associated medical issues. Thus, the development of effective treatments is a complex task requiring consideration of diverse etiologic and phenotypic characteristics. Recent attention to the diagnosis and treatment of medical conditions in ASD children has led to the formation of a new international collaboration to improve autism care, the Autism Treatment Network (ATN). RECENT FINDINGS: Numerous studies have highlighted the high prevalence of gastrointestinal and sleep disorders among ASD children. Problems in communication – including being nonverbal – make the diagnosis and treatment of these conditions more difficult. Although a number of studies suggest links between neurologic impairments and gastrointestinal dysfunction and disordered sleep, these relationships remain unproven. Recent work by the ATN has begun the development of clinical guidelines in these areas, based on clinical consensus, adapting the model developed by the Cystic Fibrosis Foundation. New funding has also supported the network’s development of a robust clinical research program focused on improving the physical health and care of children with ASD. These efforts promise more systematic and consistent approaches to diagnosis and treatment of these conditions. SUMMARY: Improved understanding of the underlying pathology of ASD and associated conditions, and the development of a common purpose across multiple treating sites, can improve the consistent and coordinated healthcare of children with autism.

5. Giunco CT, de Oliveira AB, Carvalho-Salles AB, Souza DS, Silva AE, da Rocha SS, Fett-Conte AC. {{Association between APOE polymorphisms and predisposition for autism}}. {Psychiatr Genet};2009 (Dec);19(6):338.

6. Guhathakurta S, Singh AS, Sinha S, Chatterjee A, Ahmed S, Ghosh S, Usha R. {{Analysis of serotonin receptor 2A gene (HTR2A): association study with autism spectrum disorder in the Indian population and investigation of the gene expression in peripheral blood leukocytes}}. {Neurochem Int};2009 (Dec);55(8):754-759.

Several studies suggest involvement of serotoninergic system in the pathophysiology of Autism Spectrum Disorder (ASD). The 5-HT receptor binding studies using (3)H-lysergic acid diethylamide ((3)H-LSD) and linkage analysis provided evidences to consider HTR2A as a potential candidate gene for ASD. The three SNPs, -1438A/G (rs6311), 102T/C (rs6313) and 1354C/T (rs6314) of HTR2A have been well studied in the etiology of various neuropsychiatric disorders. But studies on association of this gene with ASD are limited to two reports from American and Korean populations. Additionally there are reports, which demonstrated paternal imprinting of HTR2A with expression from only one allele. So far no reports are available on HTR2A and its association with any neuropsychiatric disorders from Indian population. Therefore, the present study investigates association of the above mentioned three markers of HTR2A with ASD in Indian population using population and family-based approaches. The study also deals with allelic expression pattern of HTR2A in Peripheral Blood Leukocytes (PBLs) to understand the parental imprinting status. The genotyping analyses were carried out for probands, parents and controls. The subsequent association analyses did not show association of these markers with ASD. So, HTR2A is unlikely to be a genetic marker for ASD in Indian population. The expression analyses showed absence of monoallelic expression, suggesting lack of parental imprinting of HTR2A gene. However, we noticed methylation of the CpG sites at -1438A/G and 102T/C loci of HTR2A gene. Further bioinformatics analysis revealed absence of CpG islands in the promoter of the gene supporting biallelic expression pattern of HTR2A in PBLs.

7. Hendren RL, Bertoglio K, Ashwood P, Sharp F. {{Mechanistic biomarkers for autism treatment}}. {Med Hypotheses};2009 (Dec);73(6):950-954.

OBJECTIVE: Autism is a syndrome with a number of etiologies with differing mechanisms that lead to abnormal development. This review highlights the need to identify autism subgroups as they each might require unique approaches for prevention or treatment. METHODS: Targeting treatments to specific mechanisms and utilizing biomarkers can more rapidly advance our understanding of how to classify and treat autism subgroups based on translational mechanisms. We illustrate this approach using mechanisms that may influence the course of autism and provide rationale for selected biomarkers that could guide treatments targeted anywhere from DNA to symptom expression. CONCLUSIONS: The use of potential biomarkers that point to specific mechanisms of disordered neurodevelopment will help identify meaningful subtypes of autism and will help tailor treatment or prevention strategies for each mechanism rather than solely to a symptom category.

8. Hsu WS, Ho MH. {{Ritual behaviours of children with autism spectrum disorders in Taiwan}}. {J Intellect Dev Disabil};2009 (Dec);34(4):290-295.

BACKGROUND: Ritual behaviour, while often considered as nonpurposeful or problematic, can also be regarded as functional behaviour for individuals with autism spectrum disorders (ASD). This study investigated the types and characteristics of ritual behaviour in children with ASD in a Taiwan context. METHODS: Sixty-four primary school teachers, who taught 71 students with ASD, were surveyed. In addition, observations with five children with ASD were conducted, and their parents were interviewed. Two control groups of students with intellectual disability and children without a disability were included in the study. RESULTS: Ritual behaviour occurred in the majority of children with ASD, and across all levels of ability. Prevalence was much higher in the ASD group as compared to the two control groups. These behaviours could be categorised into seven types, and ritual behaviour was strongly associated with sensory sensitivity. CONCLUSIONS: Although ritual behaviours were diverse in nature and were common among children with ASD in Taiwan, their frequency may be associated with cultural context.

9. Hughes JR. U{{pdate on autism: a review of 1300 reports published in 2008}}. {Epilepsy Behav};2009 (Dec);16(4):569-589.

This publication, by reviewing 1300 studies published on autism in 2008, represents an update on this topic. Results include possible parental influences, maternal conditions, and studies on genes and chromosomes. Possible etiological factors involve the « extreme male brain, » defects in the mirror neuron system, vaccines, underconnectivity, disorders of central coherence, and many other more specific etiologies. Assessments or tests for autism are also reviewed. Characteristics of autistic individuals include repetitive behavior, language disorders, sleep disturbances, social problems, joint attention disorders, seizures, allergic reactions, and various behavioral changes. Cognitive changes involve IQ, reasoning, and verbal and language disorders. The savant syndrome is a fascinating phenomenon, at times seen in autistic individuals. Neurophysiological and neuroanatomical changes are also reviewed, as are comorbid conditions. Finally, treatment involves various medications including risperidone, ziprasidone, and antipsychotic drugs, as well as different procedures such as magnetic stimulation, acupuncture, and hyperbaric oxygen therapy. As mentioned in the 2007 survey, nearly every conceivable problem that a child can have may be found in these unfortunate children and nearly every conceivable etiology has been mentioned to account for this serious disorder.

10. Jacob FD, Ramaswamy V, Andersen J, Bolduc FV. {{Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature}}. {Eur J Hum Genet};2009 (Dec);17(12):1577-1581.

Rett syndrome is a severe neurodegenerative disorder characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical hand movements. Mutations in methyl CpG binding protein 2 (MECP2) are identified in most patients with classic Rett syndrome. Genetic studies in patients with a Rett variant have expanded the spectrum of underlying genetic etiologies. Recently, a deletion encompassing several genes in the long arm of chromosome 14 has been associated with the congenital Rett-syndrome phenotype. Using array-based comparative genomic hybridization, we identified a 3-year-old female with a Rett-like syndrome carrying a de novo single-gene deletion of FOXG1. Her presentation included intellectual disability, epilepsy and a Rett-like phenotype. The variant features included microcephaly at birth and prominent synophrys. Our results confirm that congenital Rett syndrome can be caused by copy-number variation in FOXG1 and expand the clinical phenotypic spectrum of FOXG1 defect in humans.

11. Lepisto T, Kuitunen A, Sussman E, Saalasti S, Jansson-Verkasalo E, Nieminen-von Wendt T, Kujala T. {{Auditory stream segregation in children with Asperger syndrome}}. {Biol Psychol};2009 (Dec);82(3):301-307.

Individuals with Asperger syndrome (AS) often have difficulties in perceiving speech in noisy environments. The present study investigated whether this might be explained by deficient auditory stream segregation ability, that is, by a more basic difficulty in separating simultaneous sound sources from each other. To this end, auditory event-related brain potentials were recorded from a group of school-aged children with AS and a group of age-matched controls using a paradigm specifically developed for studying stream segregation. Differences in the amplitudes of ERP components were found between groups only in the stream segregation conditions and not for simple feature discrimination. The results indicated that children with AS have difficulties in segregating concurrent sound streams, which ultimately may contribute to the difficulties in speech-in-noise perception.

12. Limperopoulos C. {{Autism Spectrum Disorders in Survivors of Extreme Prematurity}}. {Clin Perinatol};2009 (Dec);36(4):791-805.

Recent studies in survivors of extreme prematurity point to an increased prevalence of a previously underrecognized atypical social-behavioral profile strongly suggestive of an autism spectrum disorder. Prospective studies that incorporate early autism screening and autism diagnostic testing are needed to better delineate the sensitivity and specificity of early signs of autism in ex-premature children. Advances in neonatal MRI techniques capable of quantitative structural and functional measurements will also provide important insights into the effects of prematurity itself, and prematurity-related brain injury on the genesis of autism spectrum disorders in this population. Available evidence linking prematurity and autism spectrum disorders is reviewed in this article.

13. Murphy P, Brady N, Fitzgerald M, Troje NF. {{No evidence for impaired perception of biological motion in adults with autistic spectrum disorders}}. {Neuropsychologia};2009 (Dec);47(14):3225-3235.

A central feature of autistic spectrum disorders (ASDs) is a difficulty in identifying and reading human expressions, including those present in the moving human form. One previous study, by Blake et al. (2003), reports decreased sensitivity for perceiving biological motion in children with autism, suggesting that perceptual anomalies underlie problems in social cognition. We revisited this issue using a novel psychophysical task. 16 adults with ASDs and 16 controls were asked to detect the direction of movement of human point-light walkers which were presented in both normal and spatially scrambled forms in a background of noise. Unlike convention direction discrimination tasks, in which walkers walk ‘on the spot’ while facing left or right, we added translatory motion to the stimulus so that the walkers physically moved across the screen. Therefore, while a cue of coherent, translatory motion was available in both the normal and scrambled walker forms, the normal walker alone contained information about the configuration and kinematics of the human body. There was a significant effect of walker type, with reduced response times and error when the normal walker was present. Most importantly, these improvements were the same for both participant groups, suggesting that people with ASDs do not have difficulty integrating local visual information into a global percept of the moving human form. The discrepancy between these and previous findings of impaired biological motion perception in ASDs are discussed with reference to differences in the age and diagnosis of the participants, and the nature of the task.

14. Niederhofer H. {{Arbohydrate-deficient transferrin does not seem to be associated with ADHD and autism}}. {Psychiatr Danub};2009 (Dec);21(4):517.

15. O’Hare A. {{Autism spectrum disorder: diagnosis and management}}. {Arch Dis Child Educ Pract Ed};2009 (Dec);94(6):161-168.

Autism spectrum disorders are of high prevalence and have a potentially complex range of presentations within the core impaired domains of social communication, reciprocal social interaction, imaginary thought and restricted and repetitive behaviours. Paediatricians need to recognise the possibility of these conditions among the high-risk populations of children with whom they work. This includes those presenting in the preschool years to child development clinics with delayed acquisition of language or general development delay or those presenting in the school years with coordination, academic, peer interaction and behavioural difficulties. In addition, paediatricians are essential members of the multidisciplinary teams charged with specialist assessment and their clinical history and examination can direct investigations for aetiology. This is a fast moving field with a challenging range of « grey evidence » causes and interventions. The approaches to managing these areas of work are discussed with an emphasis on recognition, important features in the history and clinical examination to aid differential diagnosis and investigations, interpreting the « grey evidence » and understanding intervention and prognosis.

16. Richdale AL, Schreck KA. {{Sleep problems in autism spectrum disorders: prevalence, nature, and possible biopsychosocial aetiologies}}. {Sleep Med Rev};2009 (Dec);13(6):403-411.

As considerably more people are diagnosed with an autism spectrum disorder (ASD), interest in the associated behaviours, including sleep problems has increased. This has resulted in a subsequent increase in the research related to the sleep problems occurring in people with an ASD. This article summarizes and evaluates the current literature related to a) the higher prevalence of a sleep problem compared to typically developing children, b) the specific types of sleep problems for people with an ASD, and c) the possible aetiology of sleep problems in the ASDs within a biopsychosocial framework. It is concluded that recent studies confirm that the majority of this population are likely to experience sleep difficulties, with settling issues in children with an ASD the most commonly reported. However, exploration of the types of sleep difficulties and associated aetiological factors in the ASDs is still in its infancy.

17. Robinson S, Goddard L, Dritschel B, Wisley M, Howlin P. {{Executive functions in children with autism spectrum disorders}}. {Brain Cogn};2009 (Dec);71(3):362-368.

Executive dysfunction is a characteristic impairment of individuals with Autism Spectrum Disorders (ASD). However whether such deficits are related to autism per se, or to associated intellectual disability is unclear. This paper examines executive functions in a group of children with ASD (N=54, all IQ > or = 70) in relation to a typically developing control group individually matched on the basis of age, gender, IQ and vocabulary. Significant impairments in the inhibition of prepotent responses (Stroop, Junior Hayling Test) and planning (Tower of London) were reported for children with ASD, with preserved performance for mental flexibility (Wisconsin Card Sorting Task) and generativity (Verbal Fluency). Atypical age-related patterns of performance were reported on tasks tapping response inhibition and self-monitoring for children with ASD compared to controls. The disparity between these and previous research findings are discussed. A multidimensional notion of executive functions is proposed, with difficulties in planning, the inhibition of prepotent responses and self-monitoring reflecting characteristic features of ASD that are independent of IQ and verbal ability, and relatively stable across the childhood years.

18. Soulieres I, Dawson M, Samson F, Barbeau EB, Sahyoun CP, Strangman GE, Zeffiro TA, Mottron L. {{Enhanced visual processing contributes to matrix reasoning in autism}}. {Hum Brain Mapp};2009 (Dec);30(12):4082-4107.

Recent behavioral investigations have revealed that autistics perform more proficiently on Raven’s Standard Progressive Matrices (RSPM) than would be predicted by their Wechsler intelligence scores. A widely-used test of fluid reasoning and intelligence, the RSPM assays abilities to flexibly infer rules, manage goal hierarchies, and perform high-level abstractions. The neural substrates for these abilities are known to encompass a large frontoparietal network, with different processing models placing variable emphasis on the specific roles of the prefrontal or posterior regions. We used functional magnetic resonance imaging to explore the neural bases of autistics’ RSPM problem solving. Fifteen autistic and eighteen non-autistic participants, matched on age, sex, manual preference and Wechsler IQ, completed 60 self-paced randomly-ordered RSPM items along with a visually similar 60-item pattern matching comparison task. Accuracy and response times did not differ between groups in the pattern matching task. In the RSPM task, autistics performed with similar accuracy, but with shorter response times, compared to their non-autistic controls. In both the entire sample and a subsample of participants additionally matched on RSPM performance to control for potential response time confounds, neural activity was similar in both groups for the pattern matching task. However, for the RSPM task, autistics displayed relatively increased task-related activity in extrastriate areas (BA18), and decreased activity in the lateral prefrontal cortex (BA9) and the medial posterior parietal cortex (BA7). Visual processing mechanisms may therefore play a more prominent role in reasoning in autistics.

19. Strunk JA. {{School nurses’ knowledge of autism spectrum disorders}}. {J Sch Nurs};2009 (Dec);25(6):445-452.

The purpose of this study was to determine school nurses’ working knowledge of autism spectrum disorders (ASDs). The current knowledge of school nurses was investigated by means of a mixed-method exploratory descriptive pilot study. Instrumentation included a scale that measured the knowledge of school nurses in regard to ASD, including medication usage and side effects, communication skills, safety issues, collaboration skills, and community resources. Survey results indicated that the majority of school nurses are knowledgeable about ASD, including symptomology and related medications. Results also suggested that school nurses are not as knowledgeable concerning communication skills, behavioral therapies, and safety issues. This study confirms a need for school nurses to enhance their knowledge of ASD, to familiarize themselves with the policy and health care networks that they collaborate with, and to communicate effectively with students, parents, educators, and community members in dealing with ASD.

20. Waldman HB, Perlman SP. {{Mega numbers, lobbying and providing care for individuals with autism}}. {J Okla Dent Assoc};2009 (Oct);100(7):16, 18-20.

Lobbying is a competitive effort directed to reaching legislators who are attempting to balance the demands of individuals, organized groups, political parties, and the complex economic realities of our times. Unfortunately, the use of all-inclusive « mega numbers » (whether it is the millions of individuals with disabilities or the billions of dollars for needed services) is difficult for any person to place in proper perspective. As a result, the estimated 1.5 million children and adults with autism spectrum disorders and their families in the United States become just « numbers » – not actual people. The need is to somehow personalize these numbers if we are to bring increased attention to these individuals with special needs. Centers for Disease Control and Prevention and private research foundation data are used to illustrate an approach to better personalize the information for individual politicians and health practitioners.