1. Hadjikhani N. {{Serotonin, pregnancy and increased autism prevalence: Is there a link?}}. {Med Hypotheses}. 2009 Dec 15.
The prevalence of autism, a neurodevelopmental condition resulting from genetic and environmental causes, has increased dramatically during the last decade. Among the potential environmental factors, hyperserotonemia during pregnancy and its effect on brain development could be playing a role in this prevalence raise. In the rodent model developed by Whitaker-Azmitia and colleagues, hyperserotonemia during fetal development results in a dysfunction of the hypothalamo-pituitary axis, affecting the amygdala as well as pro-social hormone oxytocin regulation. Dysfunction of the amygdala and abnormal oxytocin levels may underlie many clinical features of ASD. Selective serotonin reuptake inhibitors (SSRI) are the most widely used class of antidepressants drugs, and they are not contraindicated during pregnancy. In this paper, we hypothesize that increased serotonemia during pregnancy, including due to SSRI intake, could be one of the causes of the raising prevalence in autism. If our hypothesis is confirmed, it will not only shed light on one of the possible reason for autism prevalence, but also offer new preventive and treatment options.
2. Hippler K, Viding E, Klicpera C, Happe F. {{Brief Report: No Increase in Criminal Convictions in Hans Asperger’s Original Cohort}}. {J Autism Dev Disord}. 2009 Dec 19.
Hans Asperger originally used the term « autistic psychopathy » to describe his patients on the autism spectrum, leading to a possible confusion with psychopathic disorder and delinquent behaviour. We conducted a penal register search for 177 former patients of Asperger’s clinic with a childhood diagnosis of « autistic psychopathy » or features of the disorder in Austria. The mean percentage of registered convictions was similar to that in the general male population of Austria over the studied time period. A qualitative assessment of offence types in Asperger’s former patients suggests that the nature of offences does not differ from that in the general population. In this original cohort of Asperger’s patients, convictions were no more common than in the general male population.
3. Kumar A, Sundaram SK, Sivaswamy L, Behen ME, Makki MI, Ager J, Janisse J, Chugani HT, Chugani DC. {{Alterations in Frontal Lobe Tracts and Corpus Callosum in Young Children with Autism Spectrum Disorder}}. {Cereb Cortex}. 2009 Dec 17.
Major frontal lobe tracts and corpus callosum (CC) were investigated in 32 children with autism spectrum disorder (ASD, mean age: 5 years), 12 nonautistic developmentally impaired children (DI, mean age: 4.6 years), and 16 typically developing children (TD, mean age: 5.5 years) using diffusion tensor imaging tractography and tract-based spatial statistics. Various diffusion and geometric properties were calculated for uncinate fasciculus (UF), inferior fronto-occipital fasciculus (IFO), arcuate fasciculus (AF), cingulum (Cg), CC, and corticospinal tract. Fractional anisotropy was lower in the right UF, right Cg and CC in ASD and DI children; in right AF in ASD children; and in bilateral IFO in DI children, compared with TD children. Apparent diffusion coefficient was increased in right AF in both ASD and DI children. The ASD group showed shorter length of left UF and increased length, volume, and density of right UF; increased length and density of CC; and higher density of left Cg, compared with the TD group. Compared with DI group, ASD group had increased length, volume, and density of right UF; higher volume of left UF; and increased length of right AF and CC. Volume of bilateral UF and right AF and fiber density of left UF were positively associated with autistic features.
4. Lo-Castro A, Galasso C, Cerminara C, El-Malhany N, Benedetti S, Nardone AM, Curatolo P. {{Association of syndromic mental retardation and autism with 22q11.2 duplication}}. {Neuropediatrics}. 2009 Jun;40(3):137-40.
We describe a 5.3-year-old girl with autism, mental retardation, hypotonia, marked speech delay, and mild dysmorphic features with a 22q11.2 duplication. Her mother carries the same duplication and presents cleft palate, and normal intelligence. The clinical and behavioural phenotype of this relatively new syndrome is very heterogeneous, with high variability also in the familiar cases. Up till now, about 50 cases of 22q11.2 duplication have been reported, but only three of them are associated with autistic disorders. We propose that in addition to 22q13.3 deletion syndrome, also 22q11.2 duplication should be suspected in a patient with unspecified dysmorphisms, mental retardation, autism, hypotonia, and severe speech delay.
5. Marshall V, Long BC. {{Coping processes as revealed in the stories of mothers of children with autism}}. {Qual Health Res}. Jan;20(1):105-16.
Copious research evidence identifies the many stressors faced by mothers of children with autism. The aim of this study was to examine the ways in which coping is revealed in the content and structure of stories told by five mothers of children with autism. Narrative data were analyzed using both holistic-form and categorical-content approaches. Manifestations of coping were revealed in the macrostructures of stories. Cognitive coping strategies were particularly apparent in the life stories, which tended to focus on the emotional and cognitive journeys of the storytellers. Stories of discrete coping episodes added information about behavioral coping strategies employed in specific situations. Analysis of form, particularly of the structure of the life stories, yielded strategies the mothers employed to make meaning of autism in their lives.
6. Owley T, Brune CW, Salt J, Walton L, Guter S, Ayuyao N, Gibbons RD, Leventhal BL, Cook EH. {{A pharmacogenetic study of escitalopram in autism spectrum disorders}}. {Autism Res}. 2009 Dec 17.
Objective: To determine the effect of serotonin transporter polymorphism promoter region (5-HTTPLR) genotypic variation (low, intermediate, and high expression groups) on response to escitalopram treatment of children and adolescents with autism spectrum disorders (ASDs). Method: The study used a forced titration, open label design, with genotype blind until study completion. Participants were children and adolescents aged 4-17 years of age with a confirmed ASD (autistic disorder, Asperger’s disorder, or pervasive developmental disorder, not otherwise specified). Results: There was an interaction between genotype group and time on the Aberrant Behavior Checklist (ABC) Irritability Subscale (primary outcome variable) (linear maximum marginal likelihood estimation=-4.84, Z=-2.89, SE=1.67, P=0.004). Examination of baseline to last visit revealed that a genotype grouping based on a previous study of platelet 5-HT uptake revealed less response in the genotype group that had S/S genotype for 5-HTTLPR and did not have a diplotype in intron 1 previously shown to be associated with increased platelet 5-HT uptake. Conclusion: This genotype-blind, prospective pharmacogenetic study found the group of subjects with associated with the lowest platelet 5-HT uptake from previous study had the smallest reduction in ABC-Irritability scores after open label treatment with escitalopram. Replication is necessary to confirm these findings.
7. Palmer RF, Walker T, Mandell D, Bayles B, Miller CS. {{Explaining Low Rates of Autism Among Hispanic Schoolchildren in Texas}}. {Am J Public Health}. 2009 Dec 17.
In data from the Texas Educational Agency and the Health Resources and Services Administration, we found fewer autism diagnoses in school districts with higher percentages of Hispanic children. Our results are consistent with previous reports of autism rates 2 to 3 times as high among non-Hispanic Whites as among Hispanics. Socioeconomic factors failed to explain lower autism prevalence among Hispanic schoolchildren in Texas. These findings raise questions: Is autism underdiagnosed among Hispanics? Are there protective factors associated with Hispanic ethnicity?
8. Pensiero S, Fabbro F, Michieletto P, Accardo A, Brambilla P. {{Saccadic characteristics in autistic children}}. {Funct Neurol}. 2009 Jul-Sep;24(3):153-8.
Some studies suggest that individuals with autism present abnormal saccadic eye movements due to an altered strategy for exploration of the surrounding environment. In this study, potential early abnormalities of saccadic movements were explored in 14 male children with autism (5- to 12-year-olds) and in 20 agematched normal males. Only one patient showed clear abnormalities of the « main sequence »; all the other patients, although showing slight changes in saccadic eye movements, did not present classic deficits. Therefore our results did not confirm the presence of saccadic movement alterations in the early stage of autism. Nonetheless, tracts of saccadic initiation failure, continuous changes in saccadic velocity profiles, and instability of fixation were often observed in the autistic population. These findings could be the expression of an early brainstem impairment in autism.
9. Wong VC, Kwan QK. {{Randomized Controlled Trial for Early Intervention for Autism: A Pilot Study of the Autism 1-2-3 Project}}. {J Autism Dev Disord}. 2009 Dec 18.
We piloted a 2-week « Autism-1-2-3 » early intervention for children with autism and their parents immediately after diagnosis that targeted at (1) eye contact, (2) gesture and (3) vocalization/words. Seventeen children were randomized into the Intervention (n = 9) and Control (n = 8) groups. Outcome measures included the Autism Diagnostic Observation Schedule, Ritvo-Freeman Real Life Rating Scale, Symbolic Play Test, and Parenting Stress Index. Children with autism improved in language/communication, reciprocal social interaction, and symbolic play. Parents perceived significant improvement in their children’s language, social interaction, and their own stress level. This intervention can serve as short-term training on communication and social interaction for children with autism, and reduce the stress of their parents during the long waiting time for public health services.
10. Zhang JJ, Bao XH. {{[Research progress of Rett syndrome causing gene MECP2–The structure, function and modulation of MECP2.]}}. {Beijing Da Xue Xue Bao}. 2009 Dec 18;41(6):712-5.
Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder characterized by regression of language, stereotype hand movement and loss of purposeful hand use, is primarily caused by mutation of menthyl-CpG-binding protein 2 (MECP2). The 76 kb human MECP2 is characterized by three salient features: a very large intron 2 (60 kb), an 8.5 kb 3′-UTR with highly conserved regions and different polyadenylation sites, and a 40 kb intergenic region separating MECP2 from the nearest upstream gene. There are two isoforms of MeCP2, MeCP2e1 and MeCP2e2. The differences between the two isoforms, the function of the 3′-UTR and the long-range cis-regulatory sequences in the intergenic region were extensively studied. In contrast to initial report, recent studies show that MeCP2 binds not only to methylated promoters and silence transcription, but also to the sites outside of genes containing only a few of CpG islands. Furthermore, MeCP2 can function as both an activator and a repressor of transcription.
