1. Howlin P, Savage S, Moss P, Tempier A, Rutter M. {{Cognitive and language skills in adults with autism: a 40-year follow-up}}. {J Child Psychol Psychiatry}. 2013 Jul 15.
BACKGROUND: It is well established that very few individuals with autism spectrum disorders (ASD) and an IQ below 70 are able to live independently as adults. However, even amongst children with an IQ in the normal range, outcome is very variable. Childhood factors that predict later stability, improvement or decline in cognitive functioning remain uncertain and, in particular, very little is known about trajectories in later adulthood. METHOD: Changes in cognitive and language ability from childhood to adulthood were assessed in 60 individuals with autism, all of whom had an IQ in the average range as children. Mean age in childhood = 6 years (range 2-13 years); mean age in adulthood = 44 years (range 29-64 years). Trajectories of change and factors related to current cognitive abilities were explored. RESULTS: For the majority of participants (N = 45, 75%), who were testable both as children and adults, IQ remained very stable and language also improved over time. However, 15 individuals could not be assessed on standard tests as adults and their developmental level could be estimated only on the Vineland Adaptive Behavior Scales. Almost all these adults (apart from one who had suffered a major stroke) showed severe aggressive or self-injurious behaviours; none had ever developed language above a 3-year level, and seven had developed epilepsy. CONCLUSIONS: For most individuals with autism who had an IQ in the average range (i.e. >/=70) as children, childhood IQ proved a reliable predictor of cognitive functioning well into mid- to- later adulthood. However, a significant minority was no longer testable on standard tests as adults. Their current very low levels of functional ability were generally associated with severe behavioural disturbance and persisting and severe language impairment; 50% of these individuals had also developed epilepsy, pointing to the role of organic brain dysfunction. Implications for early intervention are discussed.
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2. Jiang YH, Yuen RK, Jin X, Wang M, Chen N, Wu X, Ju J, Mei J, Shi Y, He M, Wang G, Liang J, Wang Z, Cao D, Carter MT, Chrysler C, Drmic IE, Howe JL, Lau L, Marshall CR, Merico D, Nalpathamkalam T, Thiruvahindrapuram B, Thompson A, Uddin M, Walker S, Luo J, Anagnostou E, Zwaigenbaum L, Ring RH, Wang J, Lajonchere C, Wang J, Shih A, Szatmari P, Yang H, Dawson G, Li Y, Scherer SW. {{Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing}}. {Am J Hum Genet}. 2013 Jul 10.
Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet the genetic causes remain only partially understood as a result of extensive clinical and genomic heterogeneity. Whole-genome sequencing (WGS) shows promise as a tool for identifying ASD risk genes as well as unreported mutations in known loci, but an assessment of its full utility in an ASD group has not been performed. We used WGS to examine 32 families with ASD to detect de novo or rare inherited genetic variants predicted to be deleterious (loss-of-function and damaging missense mutations). Among ASD probands, we identified deleterious de novo mutations in six of 32 (19%) families and X-linked or autosomal inherited alterations in ten of 32 (31%) families (some had combinations of mutations). The proportion of families identified with such putative mutations was larger than has been previously reported; this yield was in part due to the comprehensive and uniform coverage afforded by WGS. Deleterious variants were found in four unrecognized, nine known, and eight candidate ASD risk genes. Examples include CAPRIN1 and AFF2 (both linked to FMR1, which is involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome. Taken together, these results suggest that WGS and thorough bioinformatic analyses for de novo and rare inherited mutations will improve the detection of genetic variants likely to be associated with ASD or its accompanying clinical symptoms.
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3. Li J, Liang SC, Zhang R. {{[Research progress of abnormal amygdala in autistic patients’ social impairments]}}. {Sheng Li Ke Xue Jin Zhan}. 2013 Apr;44(2):121-4.
4. Lo YC, Chou TL, Fan LY, Gau SS, Chiu YN, Tseng WY. {{Altered Structure-Function Relations of Semantic Processing in Youths with High-Functioning Autism: A Combined Diffusion and Functional MRI Study}}. {Autism Res}. 2013 Jul 12.
Deficits in language and communication are among the core symptoms of autism, a common neurodevelopmental disorder with long-term impairment. Despite the striking nature of the autistic language impairment, knowledge about its corresponding alterations in the brain is still evolving. We hypothesized that the dual stream language network is altered in autism, and that this alteration could be revealed by changes in the relationships between microstructural integrity and functional activation. The study recruited 20 right-handed male youths with autism and 20 carefully matched individually, typically developing (TD) youths. Microstructural integrity of the left dorsal and left ventral pathways responsible for language processing and the functional activation of the connected brain regions were investigated by using diffusion spectrum imaging and functional magnetic resonance imaging of a semantic task, respectively. Youths with autism had significantly poorer language function, and lower functional activation in left dorsal and left ventral regions of the language network, compared with TD youths. The TD group showed a significant correlation of the functional activation of the left dorsal region with microstructural integrity of the left ventral pathway, whereas the autism group showed a significant correlation of the functional activation of the left ventral region with microstructural integrity of the left dorsal pathway, and moreover verbal comprehension index was correlated with microstructural integrity of the left ventral pathway. These altered structure-function relationships in autism suggest possible involvement of the dual pathways in supporting deficient semantic processing. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
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5. Moses L, Katz N, Weizman A. {{Metabolic profiles in adults with autism spectrum disorder and intellectual disabilities}}. {European psychiatry : the journal of the Association of European Psychiatrists}. 2013 Jul 9.
INTRODUCTION: Low levels of blood cholesterol have been found in some children with autism spectrum disorders (ASD). Psychotropic medications, commonly used by people with ASD and people with intellectual disabilities (ID) are frequently associated with altered metabolic profiles. PURPOSE: We aimed to compare metabolic features of adults with ASD or ID with those of a community-based population. SUBJECTS AND METHODS: Data on blood fasting glucose (FBG), lipid profile, liver enzyme profile, TSH, BMI, medications and diagnoses of 80 adults with ASD, 77 adults with ID and 828 control adults were drawn from medical charts/database. Candidates that used glucose or lipid lowering medications were not included. RESULTS: Total-cholesterol levels of people with ASD and ID were significantly lower than those of the controls (168.3+/-32.78, 168.2+/-32.91, 185.4+/-40.49mg/dL, respectively, P<0.001) but after adjusting for gender, age and BMI and using Bonferroni correction, the significance was lost. Compared to controls, ASD and ID had significantly lower FBG (by -14.45+/-1.81, -14.58+/-1.54mg/dl, respectively; P<0.001 for both) and liver enzymes, despite using psychotropic medications. DISCUSSION AND CONCLUSION: In contrast to other psychiatric patients receiving similar medications, people with ASD and ID have unaltered lipid profiles and lower glucose and liver enzyme levels compared to a community-based population.
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6. Petrinovic MM, Kunnecke B. {{Neuroimaging Endophenotypes in Animal Models of Autism Spectrum Disorders: Lost or Found in Translation?}}. {Psychopharmacology}. 2013 Jul 14.
RATIONALE: Autism spectrum disorder(s) (ASDs) is a neurodevelopmental disorder characterized by stereotyped behaviours and impairments in communication and social interactions. This heterogeneity has been a major obstacle in uncovering the aetiology and biomarkers of ASDs. Rodent models with genetic modifications or environmental insults have been created to study particular endophenotypes and bridge the gap between genetics and behavioural phenotypes. Translational neuroimaging modalities with their ability to screen the brain noninvasively and yield structural, biochemical and functional information provide a unique platform for discovery and evaluation of such endophenotypes in preclinical and clinical research. OBJECTIVES: We reviewed literature on translational neuroimaging in rodent models of ASDs. The most prominent models will be described and the respective neuroimaging endophenotypes will be discussed with reference to human data. A perspective on future directions of translational neuroimaging in animal models of ASDs will be given. RESULTS AND CONCLUSIONS: To date, we experience a proliferation of rodent models which recapitulate specific liabilities identified in ASDs patients. Translational neuroimaging in these models is emerging but is skewed towards magnetic resonance imaging (MRI) modalities. Volumetric and structural assessments of the brain are dominating and a host of endophenotypes have been reported that allude to findings in ASDs patients but with only few to converge among the models. Caveats of current studies are the diverging biological conditions related to genetic background and age of the animals. It is anticipated that longitudinal and functional assessments will gain much importance and will help elucidating mechanistic relationship between behavioural and structural endophenotypes.
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7. Ramirez PL, Barnhill K, Gutierrez A, Schutte C, Hewitson L. {{Improvements in Behavioral Symptoms following Antibiotic Therapy in a 14-Year-Old Male with Autism}}. {Case reports in psychiatry}. 2013;2013:239034.
This case report describes the benefits of antibiotic and antifungal therapy on behavior in a child with autism undergoing treatment for encopresis. Over the course of treatment, the child exhibited a reduction in aberrant behaviors, increased gastrointestinal function, and improved quality of life.
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8. Volaki K, Pampanos A, Kitsiou-Tzeli S, Vrettou C, Oikonomakis V, Sofocleous C, Kanavakis E. {{Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism}}. {Psychiatric genetics}. 2013 Jul 10.
Molecular and neurobiological evidence for the involvement of neuroligins (particularly NLGN3 and NLGN4X genes) in autistic disorder is accumulating. However, previous mutation screening studies on these two genes have yielded controversial results. The present study explores, for the first time, the contribution of NLGN3 and NLGN4X genetic variants in Greek patients with autistic disorder. We analyzed the full exonic sequence of NLGN3 and NLGN4X genes in 40 patients strictly fulfilling the Diagnostic and Statistical Manual of Mental Disorders, 4th ed. criteria for autistic disorder. We identified nine nucleotide changes in NLGN4X – one probable causative mutation (p.K378R) previously reported by our research group, one novel variant (c.-206G>C), one nonvalidated single nucleotide polymorphism (SNP, rs111953947), and six known human SNPs reported in the SNP database – and one known human SNP in NLGN3 also reported in the SNP database. The variants identified are expected to be benign. However, they should be investigated in the context of variants in interacting cellular pathways to assess their contribution to the etiology of autism.
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9. Yoo HJ. {{Recent Increase in Autism and ADHD: True or Inflated?}}. {Journal of Korean medical science}. 2013 Jul;28(7):974-5.
