1. Chan LG, Saluja B. {{Sexual offending and improvement in autistic characteristics after acquired brain injury: a case report}}. {Aust N Z J Psychiatry};2011 (Jun 30)
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2. Guenole F, Baleyte JM. {{Melatonin for sleep-disturbed children with autism spectrum disorders: can we really speak of a substitution treatment?}}. {Eur Child Adolesc Psychiatry};2011 (Jun 29)
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3. Johnson HM, Gaitanis J, Morrow EM. {{Genetics in autism diagnosis: adding molecular subtypes to neurobehavioral diagnoses}}. {Med Health R I};2011 (May);94(5):124-126.
4. Julie G, Hamdan FF, Rouleau GA. {{A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia}}. {J Vis Exp};2011 (52)
There are several lines of evidence supporting the role of de novo mutations as a mechanism for common disorders, such as autism and schizophrenia. First, the de novo mutation rate in humans is relatively high, so new mutations are generated at a high frequency in the population. However, de novo mutations have not been reported in most common diseases. Mutations in genes leading to severe diseases where there is a strong negative selection against the phenotype, such as lethality in embryonic stages or reduced reproductive fitness, will not be transmitted to multiple family members, and therefore will not be detected by linkage gene mapping or association studies. The observation of very high concordance in monozygotic twins and very low concordance in dizygotic twins also strongly supports the hypothesis that a significant fraction of cases may result from new mutations. Such is the case for diseases such as autism and schizophrenia. Second, despite reduced reproductive fitness(1) and extremely variable environmental factors, the incidence of some diseases is maintained worldwide at a relatively high and constant rate. This is the case for autism and schizophrenia, with an incidence of approximately 1% worldwide. Mutational load can be thought of as a balance between selection for or against a deleterious mutation and its production by de novo mutation. Lower rates of reproduction constitute a negative selection factor that should reduce the number of mutant alleles in the population, ultimately leading to decreased disease prevalence. These selective pressures tend to be of different intensity in different environments. Nonetheless, these severe mental disorders have been maintained at a constant relatively high prevalence in the worldwide population across a wide range of cultures and countries despite a strong negative selection against them(2). This is not what one would predict in diseases with reduced reproductive fitness, unless there was a high new mutation rate. Finally, the effects of paternal age: there is a significantly increased risk of the disease with increasing paternal age, which could result from the age related increase in paternal de novo mutations. This is the case for autism and schizophrenia(3). The male-to-female ratio of mutation rate is estimated at about 4-6:1, presumably due to a higher number of germ-cell divisions with age in males. Therefore, one would predict that de novo mutations would more frequently come from males, particularly older males(4). A high rate of new mutations may in part explain why genetic studies have so far failed to identify many genes predisposing to complexes diseases genes, such as autism and schizophrenia, and why diseases have been identified for a mere 3% of genes in the human genome. Identification for de novo mutations as a cause of a disease requires a targeted molecular approach, which includes studying parents and affected subjects. The process for determining if the genetic basis of a disease may result in part from de novo mutations and the molecular approach to establish this link will be illustrated, using autism and schizophrenia as examples.
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5. Kimura F, Wada M, Kudo T, Hashimoto H, Ishihara H, Hirota K. {{[A case of Rett syndrome monitored with BIS and neuromuscular monitor during total intravenous anesthesia]}}. {Masui};2011 (Jun);60(6):700-702.
We describe a case of 8-year-old female patient with Rett syndrome undergoing bilateral tonsillectomy and adenotomy. She was monitored with BIS and neuromuscular monitor using TOF during total intravenous anesthesia (TIVA) with propofol, remifentanil, ketamine and rocuronium. A relatively high infusion rate of propofol (10 mg x kg x hr(-1)) was maintained to keep BIS between 60 and 70 during the surgical procedure, and rocuronium 10 mg IV was administered for tracheal intubation without its further administration during the surgical procedure. Although prolonged effects of anesthetics, analgesics and neuromuscular blockade were reported frequently, she took uneventful course during anesthesia and surgery. Her recovery from anesthesia and neuromuscular blockade was also smooth associated with satisfactory sedated states. BIS and neuromuscular monitor may be useful in TIVA for a patient with Rett syndrome.
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6. Mordre M, Groholt B, Knudsen AK, Sponheim E, Mykletun A, Myhre AM. {{Is Long-Term Prognosis for Pervasive Developmental Disorder Not Otherwise Specified Different from Prognosis for Autistic Disorder? Findings from a 30-Year Follow-Up Study}}. {J Autism Dev Disord};2011 (Jun 29)
We followed 74 children with autistic disorder (AD) and 39 children with pervasive developmental disorder not otherwise specified (PDD NOS) for 17-38 years in a record linkage study. Rates of disability pension award, marital status, criminality and mortality were compared between groups. Disability pension award was the only outcome measure that differed significantly between the AD and PDD NOS groups (89% vs. 72%, p < 0.05). The lower rate of disability pension award in the PDD NOS group was predicted by better psychosocial functioning. The lack of substantial differences in prognosis between the groups supports a dimensional description of autism spectrum disorder, in line with proposed DSM-V revision.
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7. Nolin SL, Glicksman A, Ding X, Ersalesi N, Brown WT, Sherman SL, Dobkin C. {{Fragile X analysis of 1112 prenatal samples from 1991 to 2010}}. {Prenat Diagn};2011 (Jun 30)
OBJECTIVE: To determine risks of expansion for normal, intermediate, and premutation FMR1 CGG repeats. METHODS: PCR was used to compare the FMR1 alleles in prenatal (chorionic villi and amniocytes) and parental samples collected from 1991 to 2010. Prenatal diagnoses were confirmed by Southern analysis. RESULTS: Fragile X analysis of 1112 pregnancies identified 558 normal, 106 intermediate, 216 premutation, and 232 full mutation fetuses. Of 509 maternal, intermediate, and premutation alleles, 350 (68.7%) were unstable on transmission with expansions ranging from one repeat to the full mutation. The smallest premutation alleles expanding to the full mutation were in mothers with 65 and 66 repeats. Transmissions from women with or without a family history of fragile X suggested greater instability in women from families that included full mutation expansions. CONCLUSIONS: The maternal transmissions of alleles with 55 to 59 CGG repeats summarized here indicate that the risk for expansion to full mutation is substantially less than previous estimates for this size category. Most premutation alleles with no family history of fragile X exhibited less instability than those with a history of fragile X. Thus, lower risk estimates for full mutation expansion may be appropriate for women newly identified as premutation carriers through routine screening. Copyright (c) 2011 John Wiley & Sons, Ltd.
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8. Shur N, Gunn S, Feit L, Oh AK, Yatchmink Y, Abuelo D. {{The role of new genetic technology in investigating autism and developmental delay}}. {Med Health R I};2011 (May);94(5):131, 134-137.
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9. Tirouvanziam R, Obukhanych TV, Laval J, Aronov PA, Libove R, Banerjee AG, Parker KJ, O’Hara R, Herzenberg LA, Hardan AY. {{Distinct Plasma Profile of Polar Neutral Amino Acids, Leucine, and Glutamate in Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2011 (Jun 29)
The goal of this investigation was to examine plasma amino acid (AA) levels in children with Autism Spectrum Disorders (ASD, N = 27) and neuro-typically developing controls (N = 20). We observed reduced plasma levels of most polar neutral AA and leucine in children with ASD. This AA profile conferred significant post hoc power for discriminating children with ASD from healthy children. Furthermore, statistical correlations suggested the lack of a typical decrease of glutamate and aspartate with age, and a non-typical increase of isoleucine and lysine with age in the ASD group. Findings from this limited prospective study warrant further examination of plasma AA levels in larger cross-sectional and longitudinal cohorts to adequately assess for relationships with developmental and clinical features of ASD.
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10. Valenti M, Ciprietti T, Egidio CD, Gabrielli M, Masedu F, Tomassini AR, Sorge G. {{Adaptive Response of Children and Adolescents with Autism to the 2009 Earthquake in L’Aquila, Italy}}. {J Autism Dev Disord};2011 (Jun 30)
The literature offers no descriptions of the adaptive outcomes of people with autism spectrum disorder (ASD) after natural disasters. Aim of this study was to evaluate the adaptive behaviour of participants with ASD followed for 1 year after their exposure to the 2009 earthquake in L’Aquila (Italy) compared with an unexposed peer group with ASD, by administering the Italian form of the Vineland Adaptive Behaviour Scales (VABS) at baseline, 6 months and 1 year after the earthquake. Exposed participants declined dramatically in their adaptive behaviour during the first months after the earthquake (p < 0.01 for all VABS dimensions). However, immediate intensive post-disaster intervention allowed children and adolescents with autism showing a trend towards partial recovery of adaptive functioning.
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11. White SW, Bray BC, Ollendick TH. {{Examining Shared and Unique Aspects of Social Anxiety Disorder and Autism Spectrum Disorder Using Factor Analysis}}. {J Autism Dev Disord};2011 (Jun 29)
Social Anxiety Disorder (SAD) and Autism Spectrum Disorders (ASD) are fairly common psychiatric conditions that impair the functioning of otherwise healthy young adults. Given that the two conditions frequently co-occur, measurement of the characteristics unique to each condition is critical. This study evaluated the structure and construct overlap of two screening measures of SAD and ASD. Results from 623 young adults indicated that separable, though highly correlated, factors can be derived from the two measures related to social anxiety and social difficulties. The ASD screening measure also taps unique factors related to restricted interests and attention to details, theory of mind deficits, and a preference for routine. Recommendations are provided for accurate screening of symptoms of both SAD and ASD.
