1. Belinchon Carmona M, Boada Munoz L, Garcia de Andres E, Fuentes Biggi J, Posada de la Paz M. {{[Trends in studies on autism in Spain: Publications and authorship networks (1974-2007).]}}. {Psicothema} (May);22(2):242-249.
All the papers on autism published in journals by Spanish authors until 2007 were reviewed in order to identify changes and trends in studies, journals and authorship networks. A total of 567 works were analyzed. Results showed a continuous increase in the total number of publications and collaborative works (especially from 1999 onwards), as well as coincidence of the general framework of papers with the guidelines for research and treatment on autism that were published in the Anglo-Saxon arena for the same period. Some weak points were also identified, such as the low proportion of empirical and funded studies, low impact of the journals, and low author continuity, which have also been noted for other domains of research in Spain. We conclude that psychological and biomedical research on autism is currently a growing field in our country. However, important changes are needed, both in the way the authors conduct and communicate their studies, and in the commitment of some institutions (specially, universities and parent advocacy groups). Lastly, some proposals are suggested to improve the scientific quality of future studies and their usefulness for people with autism.
2. Boso M, Comelli M, Emanuele E, Podavini F, Marini M, Mancini L, Ucelli di Nemi S, Barale F, Politi P. {{Seasonal fluctuations in problem behaviors among young adults with autism and intellectual disability}}. {Med Sci Monit} (Apr 28);16(5):CR213-216.
Background: Acute behavioral alterations have been frequently reported in patients with autism. However, the question as to whether behavioral problems undergo seasonal variations in autism remains to be addressed.<br /> Material/Methods: In a prospective observational study over 29 months, problem behaviors amongst 23 young adults with autism and intellectual disability living in a farm community center were assessed. Behavioral problems were recorded daily using the Rossago Behavioral Checklist. Data were collected on clinical characteristics, drug usage, changes in staff composition, daily schedule, rehabilitative activities, and food administration.<br /> Results: Problem behaviors showed significant seasonal fluctuations. The frequency of problem behaviors showed a maximum in mid-April and a minimum in mid-October (mean difference: 1.24 behaviors).<br /> Conclusions: Taken together, these data suggest the occurrence of significant seasonal fluctuations in problem behaviors amongst young adults with autism and intellectual disability. Further studies are needed to shed more light on the mechanisms underlying these fluctuations.<br />
3. Downs J, Geranton SM, Bebbington A, Jacoby P, Bahi-Buisson N, Ravine D, Leonard H. {{Linking MECP2 and pain sensitivity: the example of Rett syndrome}}. {Am J Med Genet A} (May);152A(5):1197-1205.
Recent animal studies suggest links between MeCP2 function and sensitivity to pain. This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations. Families enrolled in the Australian Rett Syndrome Database (ARSD) and InterRett database participated in this study. Cases with a known MECP2 pathogenic mutation, whose families had completed a questionnaire on registration and had answered questions on pain sensitivity were included (n = 646). Logistic regression was used to analyze relationships between the atypical pain responses and genotype. Descriptions of decreased pain sensitivity were content analyzed. The prevalence estimate of reporting an abnormal pain response was 75.2% and a decreased sensitivity to pain was 65.0% in the population-based ARSD. Families of ARSD and InterRett subjects with a C-terminal (OR 2.6; 95% CI 0.8-8.0), p.R168X (OR 2.1; 95% CI 0.7-6.1), or p.R306C (OR 2.7; 95% CI 0.8-9.6) mutation were more likely to report decreased sensitivity to pain. Parents and carers described decreased and delayed responses in situations judged likely to cause pain such as injections, falls, trauma, and burns. This study has provided the first precise estimate of the prevalence of abnormal sensitivity to pain in Rett syndrome but specific relationships with genotype are not yet clear. Clinical practice should include a low threshold for the clinical assessment of potential injuries in Rett syndrome.
4. Senju A, Southgate V, Miura Y, Matsui T, Hasegawa T, Tojo Y, Osanai H, Csibra G. {{Absence of spontaneous action anticipation by false belief attribution in children with autism spectrum disorder}}. {Dev Psychopathol} (May);22(2):353-360.
Recently, a series of studies demonstrated false belief understanding in young children through completely nonverbal measures. These studies have revealed that children younger than 3 years of age, who consistently fail the standard verbal false belief test, can anticipate others’ actions based on their attributed false beliefs. The current study examined whether children with autism spectrum disorder (ASD), who are known to have difficulties in the verbal false belief test, may also show such action anticipation in a nonverbal false belief test. We presented video stimuli of an actor watching an object being hidden in a box. The object was then displaced while the actor was looking away. We recorded children’s eye movements and coded whether they spontaneously anticipated the actor’s subsequent behavior, which could only have been predicted if they had attributed a false belief to her. Although typically developing children correctly anticipated the action, children with ASD failed to show such action anticipation. The results suggest that children with ASD have an impairment in false belief attribution, which is independent of their verbal ability.
5. Shaw W. {{Increased urinary excretion of a 3-(3-hydroxyphenyl)-3-hydroxypropionic acid (HPHPA), an abnormal phenylalanine metabolite of Clostridia spp. in the gastrointestinal tract, in urine samples from patients with autism and schizophrenia}}. {Nutr Neurosci} (Jun);13(3):135-143.
A compound identified as 3-(3-hydroxyphenyl)-3-hydroxypropionic acid (HPHPA) was found in higher concentrations in urine samples of children with autism compared to age and sex appropriate controls and in an adult with recurrent diarrhea due to Clostridium difficile infections. The highest value measured in urine samples was 7500 mmol/mol creatinine, a value 300 times the median normal adult value, in a patient with acute schizophrenia during an acute psychotic episode. The psychosis remitted after treatment with oral vancomycin with a concomitant marked decrease in HPHPA. The source of this compound appears to be multiple species of anaerobic bacteria of the Clostridium genus. The significance of this compound is that it is a probable metabolite of m-tyrosine (3-hydroxyphenylalanine), a tyrosine analog which depletes brain catecholamines and causes symptoms of autism (stereotypical behavior, hyperactivity, and hyper-reactivity) in experimental animals.
6. Vazna A, Musova Z, Vlckova M, Novotna D, Dvorakova L, Hrdlicka M, Havlovicova M, Sedlacek Z. {{FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism}}. {Am J Med Genet A} (May);152A(5):1273-1277.
We describe a girl with mild facial anomalies, mild mental retardation, and atypical autism with a remarkable behavioral phenotype of persistent anger, aggression, and dysphoria. The occurrence of late-onset tremor and premature ovarian failure in the maternal branch of the family pointed to a possible defect in the FMR1 gene. Indeed, the patient carried a full FMR1 mutation. Unexpectedly, both alleles of the gene were almost completely methylated. Cytogenetic examination of the patient revealed in addition a large de novo deletion in band Xp22 on one of her X chromosomes. The deletion was fine mapped using oligonucleotide array CGH, and its breakpoints were localized using sequencing. The size of the deletion was about 17.4 Mb, and it contained more than 90 protein-coding genes. Microsatellite analysis indicated paternal origin of the aberrant chromosome. The large rearrangement was the most probable cause of the X-inactivation skewing, thus explaining the methylation of not only the expanded (maternal) but also the normal (paternal) FMR1 alleles. This pattern of skewed X-inactivation was confirmed using the analysis of methylation at the AR locus. The relatively mild phenotype of the patient resulted most likely from unmasking of the FMR1 defect. Although the deleted region contained many important genes, the phenotypic contribution of the rearranged X chromosome was probably limited by its almost complete inactivation. However, reduced dose of several genes escaping X-inactivation might also play a role in the phenotype of the patient.
