1. Barnes JL, Baron-Cohen S. {{The Big Picture: Storytelling Ability in Adults with Autism Spectrum Conditions}}. {J Autism Dev Disord};2011 (Nov 1)
Previous work on story-telling ability in autism spectrum conditions (ASC) has found a pattern of relatively intact use of story grammar in ASC narratives; however, prior analysis has concentrated primarily on whether specific story components are included, rather than how they are included. The present study analyzes an existing narrative dataset, concentrating on the kind of information that individuals with and without high functioning autism or Asperger syndrome include about story elements such as setting, character, conflict, and resolution. This analysis showed that individuals with ASC are biased toward providing local over global details about each element, regardless of whether the element involved mental content. These results are discussed in terms of the Weak Central Coherence and Hyper-Systemizing theories.
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2. Barrett B, Byford S, Sharac J, Hudry K, Leadbitter K, Temple K, Aldred C, Slonims V, Green J. {{Service and Wider Societal Costs of Very Young Children with Autism in the UK}}. {J Autism Dev Disord};2011 (Nov 1)
Autism spectrum disorders are associated with a substantial economic burden, but there is little evidence of the costs in the early years; the period in which children are increasingly likely to be diagnosed. We describe the services used by 152 children aged 24-60 months with autism, report family out-of-pocket expenses and productivity losses, and explore the relationship between family characteristics and costs. Children received a wide range of hospital and community services including relatively high levels of contact with speech and language therapists and paediatricians. Total service costs varied greatly (mean pound430 per month; range pound53- pound1,116), with some families receiving little statutory support. Higher costs were associated with increasing age and symptom severity.
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3. Campbell M, Reynolds L, Cunningham J, Minnis H, Gillberg CG. {{Autism in Glasgow: cumulative incidence and the effects of referral age, deprivation and geographical location}}. {Child Care Health Dev};2011 (Nov 1)
Background Referrals to the Greater Glasgow Community Autism Team (CAT) made before the child’s sixth birthday were analysed to obtain an estimation of the proportion of children in Greater Glasgow with childhood autism and investigate whether there were any variations in diagnosis rates, or in age at referral and diagnosis, depending on deprivation or geographical location. Methods An analysis was made of the database recording referrals to Greater Glasgow CAT, between 2004 and 2007 inclusive, of children referred by age 6 years, comprising 584 cases. Cumulative incidence was calculated for childhood autism. Ages at referral and diagnosis were also analysed. Results For this subset of children, there were 246 diagnosed cases of childhood autism, a cumulative incidence from 2004 until 2007 of 11.1 per year per 10 000 children aged 0-6 years. Of children with an eventual diagnosis of autism by age 6, 72% were referred by the age of 4 years. Deprivation was found to have an association with referral and diagnostic rates, with higher rates seen in the most deprived. There was geographical variation in the cumulative incidence of autism. Conclusion Given that the populations were not known to differ in any manner that would lead to a true variation, the geographical variation in the cumulative incidence of autism in children up to 6 years in Greater Glasgow observed in this study is likely to represent differences in the care pathway between areas. Such differences may also explain the observed association with deprivation. Reasons for the variation are being explored.
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4. Davidovic L, Navratil V, Bonaccorso CM, Catania MV, Bardoni B, Dumas ME. {{A metabolomic and systems biology perspective on the brain of the Fragile X syndrome mouse model}}. {Genome Res};2011 (Nov 2)
Fragile X syndrome (FXS) is the first cause of inherited intellectual disability, due to the silencing of the X-linked Fragile X Mental Retardation 1 gene encoding the RNA-binding protein FMRP. While extensive studies have focused on the cellular and molecular basis of FXS, neither human Fragile X patients nor the mouse model of FXS-the Fmr1-null mouse-have been profiled systematically at the metabolic and neurochemical level to provide a complementary perspective on the current, yet scattered, knowledge of FXS. Using proton high-resolution magic angle spinning nuclear magnetic resonance ((1)H HR-MAS NMR)-based metabolic profiling, we have identified a metabolic signature and biomarkers associated with FXS in various brain regions of Fmr1-deficient mice. Our study highlights for the first time that Fmr1 gene inactivation has profound, albeit coordinated consequences in brain metabolism leading to alterations in: (1) neurotransmitter levels, (2) osmoregulation, (3) energy metabolism, and (4) oxidative stress response. To functionally connect Fmr1-deficiency to its metabolic biomarkers, we derived a functional interaction network based on the existing knowledge (literature and databases) and show that the FXS metabolic response is initiated by distinct mRNA targets and proteins interacting with FMRP, and then relayed by numerous regulatory proteins. This novel « integrated metabolome and interactome mapping » (iMIM) approach advantageously unifies novel metabolic findings with previously unrelated knowledge and highlights the contribution of novel cellular pathways to the pathophysiology of FXS. These metabolomic and integrative systems biology strategies will contribute to the development of potential drug targets and novel therapeutic interventions, which will eventually benefit FXS patients.
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5. de Theije CG, Wu J, da Silva SL, Kamphuis PJ, Garssen J, Korte SM, Kraneveld AD. {{Pathways underlying the gut-to-brain connection in autism spectrum disorders as future targets for disease management}}. {Eur J Pharmacol};2011 (Sep);668 Suppl 1:S70-80.
Autism spectrum disorders (ASDs) are pervasive neurodevelopmental disorders, characterized by impairments in social interaction and communication and the presence of limited, repetitive and stereotyped interests and behavior. Bowel symptoms are frequently reported in children with ASD and a potential role for gastrointestinal disturbances in ASD has been suggested. This review focuses on the importance of (allergic) gastrointestinal problems in ASD. We provide an overview of the possible gut-to-brain pathways and discuss opportunities for pharmaceutical and/or nutritional approaches for therapy.
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6. Felce D, Perry J. {{Diagnostic grouping among adults with intellectual disabilities and autistic spectrum disorders in staffed housing}}. {J Intellect Disabil Res};2011 (Nov 2)
Background There is little evidence to guide the commissioning of residential provision for adults with autistic spectrum disorder (ASD) in the UK. We aim to explore the degree and impact of diagnostic congregation among adults with intellectual disabilities (ID) and ASD living in staffed housing. Methods One hundred and fifty-seven adults with intellectual disabilities from a sample of 424 in staffed housing were assessed as having the triad of impairments characteristic of ASD. They lived in 88 houses: 26 were non-congregate (40% or fewer residents had the triad) and 50 congregate (60% or more had the triad); 12 with intermediate groupings were eliminated. Non-congregate and congregate groups were compared on age, gender, adaptive and challenging behaviour, house size, staff per resident and various measures of quality of care and quality of outcome. Comparisons were repeated for Adaptive Behavior Scale (ABS)-matched, congregate and non-congregate subsamples. Results Non-congregate settings were larger, had lower staff per resident and more individualised social milieus. Groups were similar in age and gender but the non-congregate group had non-significantly higher ABS scores. The non-congregate group did more social, community and household activities. After matching for ABS, these outcome differences ceased to be significant. Non-congregate settings were significantly larger and had significantly more organised working methods. Conclusions The findings are consistent with other research that finds few advantages to diagnostic grouping.
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7. Finestack LH, Palmer M, Abbeduto L. {{Macrostructural Narrative Language of Adolescents and Young Adults with Down Syndrome or Fragile X Syndrome}}. {Am J Speech Lang Pathol};2011 (Nov 2)
PURPOSE: To gain a better understanding of language abilities, the expressive macrostructural narrative language abilities of verbally expressive adolescents and young adults with Down syndrome (DS) and those with fragile X syndrome (FXS) were examined. METHOD: The authors evaluated 24 adolescents and young adults with DS, 12 male adolescents and young adults with FXS, and 21 younger children with typical development (TD). Narrative samples were assessed at the macrostructural level using the Narrative Scoring Scheme (NSS; Heilmann, Miller, Nockerts, & Dunaway, 2010). Three group comparisons were made using: (a) the full sample matched on nonverbal mental age, (b) a subset of the participants individually matched on nonverbal mental age, and (c) a subset of participants individually matched on mean length of utterance. RESULTS: Study analyses revealed that the DS and FXS groups significantly outperformed the TD group on a limited number of NSS measures. No significant differences emerged between the DS and FXS groups. CONCLUSIONS: Study results suggest that some aspects of macrostructural narrative language may be relative strengths for adolescents and young adults with DS and those with FXS. These results can be used to create a more nuanced and informed approach to assessment and intervention for these populations.
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8. Guo W, Murthy AC, Zhang L, Johnson EB, Schaller EG, Allan AM, Zhao X. {{Inhibition of GSK3beta improves hippocampus-dependent learning and rescues neurogenesis in a mouse model of fragile X syndrome}}. {Hum Mol Genet};2011 (Nov 2)
Fragile X syndrome (FXS), a common inherited form of intellectual disability with learning deficits, results from a loss of fragile X mental retardation protein (FMRP). Despite extensive research, treatment options for FXS remain limited. Since FMRP is known to play an important role in adult hippocampal neurogenesis and hippocampus-dependent learning and FMRP regulates adult neural stem cell fate through translational regulation of GSK3beta, we investigated the effects of a GSK3beta inhibitor, SB216763, on FMRP mutant mice (Fmr1 KO). We found that inhibition of GSK3beta could reverse the hippocampus-dependent learning deficits and rescue adult hippocampal neurogenesis at multiple stages in Fmr1 KO mice. Our results point to GSK3beta inhibition as a potential treatment for the learning deficits seen in FXS.
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9. Kim SH, Lord C. {{Erratum to: New Autism Diagnostic Interview-Revised Algorithms for Toddlers and Young Preschoolers from 12 to 47 Months of Age}}. {J Autism Dev Disord};2011 (Nov 1)
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10. Koegel RL, Bharoocha AA, Ribnick CB, Ribnick RC, Bucio MO, Fredeen RM, Koegel LK. {{Using Individualized Reinforcers and Hierarchical Exposure to Increase Food Flexibility in Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2011 (Nov 1)
Inflexibility is a major characteristic of autism. In the present study we addressed inflexible mealtime behaviors and collected longitudinal data across 48 foods for 3 children, ages 6.4-7.8 years, diagnosed with autism spectrum disorder, for up to 22 weeks. Participants exhibited severe challenges with adherence to an extremely restricted repertoire of foods. We employed clinical replication and multiple baseline designs across participants to assess the effects of individualized reinforcement and hierarchical exposure to increase flexibility. Results showed that following intervention, all participants expanded their food repertoire and spontaneously requested new foods during follow up/generalization. Implications for clinical practice and directions for further research are discussed.
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11. Kowalski JL, Wink LK, Blankenship K, Habenicht CD, Erickson CA, Stigler KA, McDougle CJ. {{Paliperidone palmitate in a child with autistic disorder}}. {J Child Adolesc Psychopharmacol};2011 (Oct);21(5):491-493.
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12. McDonald NM, Messinger DS. {{Empathic Responding in Toddlers at Risk for an Autism Spectrum Disorder}}. {J Autism Dev Disord};2011 (Nov 1)
Empathy deficits represent an important social impairment in autism spectrum disorders (ASD), but little is known about the early development of empathy prior to diagnosis. This study examined empathic responding to parental distress in toddlers at risk for an ASD. Children later diagnosed with an ASD engaged in less empathic responding at 24 and 30 months than children with no later diagnosis. Lower empathic responding was associated with higher autism symptomatology at 30 months. This is the first study to examine empathy deficits in response to parental distress in toddlers prior to ASD diagnosis. Early empathic responding may represent a unique developing social skill that indexes the overall severity of later ASD symptomatology in at-risk children.
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13. McLennan Y, Polussa J, Tassone F, Hagerman R. {{Fragile x syndrome}}. {Curr Genomics};2011 (May);12(3):216-224.
Recent data from a national survey highlighted a significant difference in obesity rates in young fragile X males (31%) compared to age matched controls (18%). Fragile X syndrome (FXS) is the most common cause of intellectual disability in males and the most common single gene cause of autism. This X-linked disorder is caused by an expansion of a trinucleotide CGG repeat (>200) on the promotor region of the fragile X mental retardation 1 gene (FMR1). As a result, the promotor region often becomes methylated which leads to a deficiency or absence of the FMR1 protein (FMRP). Common characteristics of FXS include mild to severe cognitive impairments in males but less severe cognitive impairment in females. Physical features of FXS include an elongated face, prominent ears, and post-pubertal macroorchidism. Severe obesity in full mutation males is often associated with the Prader-Willi phenotype (PWP) which includes hyperphagia, lack of satiation after meals, and hypogonadism or delayed puberty; however, there is no deletion at 15q11-q13 nor uniparental maternal disomy. Herein, we discuss the molecular mechanisms leading to FXS and the Prader-Willi phenotype with an emphasis on mouse FMR1 knockout studies that have shown the reversal of weight increase through mGluR antagonists. Finally, we review the current medications used in treatment of FXS including the atypical antipsychotics that can lead to weight gain and the research regarding the use of targeted treatments in FXS that will hopefully have a significantly beneficial effect on cognition and behavior without weight gain.
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14. Pascolo PB, Cattarinussi A. {{On the relationship between mouth opening and « broken mirror neurons » in autistic individuals}}. {J Electromyogr Kinesiol};2011 (Oct 29)
Electromyographies of the mylohyoid muscle (MH) during the execution of the goal-oriented action « grasping to eat » have been used to determine the time relationship between the opening of the mouth and the beginning of the movement. This has been used to distinguish the behaviour of typical developing (TD) children from that of highly functioning autistic (ASD) individuals. The results of previous studies appeared to provide evidence of a deficit in action chain organization in ASD subjects and prompted the hypothesis of a « broken » mirror neuron system (MNS) for these individuals. Our results show the MH activation timing is not reliable in discriminating between TD and ASD children and the distance between the food and the subject plays a key role on the MH activation timing and cannot be neglected when analysing these type of data. The preliminary investigation on the effects of external perturbations also shows that these might have an effect on the results and further investigations are warranted. It appears that there is not enough evidence to support a link between ASD and a broken mirror network system (MNS), and the experimental results must be carefully interpreted before developing therapeutic or rehabilitative protocols.
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15. Verhoeven JS, Rommel N, Prodi E, Leemans A, Zink I, Vandewalle E, Noens I, Wagemans J, Steyaert J, Boets B, Van de Winckel A, De Cock P, Lagae L, Sunaert S. {{Is There a Common Neuroanatomical Substrate of Language Deficit between Autism Spectrum Disorder and Specific Language Impairment?}}. {Cereb Cortex};2011 (Nov 2)
Discussion of an overlap between specific language impairment (SLI) and autism spectrum disorder (ASD) is on going. The most intriguing overlap between both phenotypes is the similarity in the observed language deficits described in SLI and a subgroup of ASD with co-occurring linguistic impairment, ASD-LI. Examining whether a similar neuroanatomical substrate underlies this phenotypical linguistic overlap, we studied the white matter microstructural properties of the superior longitudinal fascicle (SLF) of 19 ASD-LI adolescents (mean age 13.8 +/- 1.6 years) and 21 age-matched controls and compared them with 13 SLI children (mean age 10.1 +/- 0.4 years) and 12 age-matched controls. A linguistic profile assessment and a diffusion tensor imaging analysis of the SLF were performed. Linguistic testing revealed a mixed receptive-expressive disorder profile in both groups, confirming their overlap at phenotypical level. At neuroanatomical level, no significant differences in mean SLF fractional anisotropy (FA) and mean SLF apparent diffusion coefficient values between ASD-LI participants and controls were seen. By contrast, the mean SLF FA was significantly reduced in the SLI children as compared with their controls. The observation of structural SLF disturbances in SLI but not in ASD-LI suggests the existence of a different neuroanatomical substrate for the language deficits in both disorders.
