1. Jones RM, Wheelwright S, Farrell K, Martin E, Green R, Di Ceglie D, Baron-Cohen S. {{Brief Report: Female-To-Male Transsexual People and Autistic Traits}}. {J Autism Dev Disord};2011 (Mar 30)
The ‘extreme male brain’ theory suggests females with Autism Spectrum Conditions are hyper-masculinized in certain aspects of behavior. We predicted that females with Gender Identity Disorder (who are masculinized) would have elevated Autism Spectrum Quotient (AQ) scores. AQ scores from five groups were compared: (1) n = 61 transmen (female-to-male transsexual people); (2) n = 198 transwomen (male-to-female transsexual people); (3) n = 76 typical males; (4) n = 98 typical females; and (5) n = 125 individuals with Asperger Syndrome (AS). Transmen had a higher mean AQ than typical females, typical males and transwomen, but lower than individuals with AS. Transmen have more autistic traits and may have had difficulty socializing with female peers and thus found it easier to identify with male peer groups.
2. Nakamura K, Iwata Y, Anitha A, Miyachi T, Toyota T, Yamada S, Tsujii M, Tsuchiya KJ, Iwayama Y, Yamada K, Hattori E, Matsuzaki H, Matsumoto K, Suzuki K, Suda S, Takebayashi K, Takei N, Ichikawa H, Sugiyama T, Yoshikawa T, Mori N. {{Replication study of Japanese cohorts supports the role of STX1A in autism susceptibility}}. {Prog Neuropsychopharmacol Biol Psychiatry};2011 (Mar 30);35(2):454-458.
Autism is a pervasive developmental disorder diagnosed in early childhood. Abnormalities of serotonergic neurotransmission have been reported in autism. Serotonin transporter (5-HTT), which modulates serotonin levels, is a major therapeutic target in autism. Therefore, factors that regulate 5-HTT expression might be implicated in autism. One candidate 5-HTT-regulatory protein is the presynaptic protein, syntaxin 1A (STX1A). We examined the association of STX1A with autism in a trio association study using DNA samples from Japanese trios with autistic probands. In TDT analysis, rs69510130 (p=0.027) showed nominal associations with autism; modest haplotype association was also observed. We further compared STX1A mRNA expression between the autistic and control groups in the postmortem brain. In the anterior cingulate gyrus region, STX1A expression in the autism group was found to be significantly lower than that of the control group. Thus, we suggest a possible role of STX1A in the pathogenesis of autism.
3. Nord AS, Roeb W, Dickel DE, Walsh T, Kusenda M, O’Connor KL, Malhotra D, McCarthy SE, Stray SM, Taylor SM, Sebat J, King B, King MC, McClellan JM. {{Reduced transcript expression of genes affected by inherited and de novo CNVs in autism}}. {Eur J Hum Genet};2011 (Mar 30)
Individuals with autism are more likely to carry rare inherited and de novo copy number variants (CNVs). However, further research is needed to establish which CNVs are causal and the mechanisms by which these CNVs influence autism. We examined genomic DNA of children with autism (N=41) and healthy controls (N=367) for rare CNVs using a high-resolution array comparative genomic hybridization platform. We show that individuals with autism are more likely to harbor rare CNVs as small as approximately 10 kb, a threshold not previously detectable, and that CNVs in cases disproportionately affect genes involved in transcription, nervous system development, and receptor activity. We also show that a subset of genes that have known or suspected allele-specific or imprinting effects and are within rare-case CNVs may undergo loss of transcript expression. In particular, expression of CNTNAP2 and ZNF214 are decreased in probands compared with their unaffected transmitting parents. Furthermore, expression of PRODH and ARID1B, two genes affected by de novo CNVs, are decreased in probands compared with controls. These results suggest that for some genes affected by CNVs in autism, reduced transcript expression may be a mechanism of pathogenesis during neurodevelopment.European Journal of Human Genetics advance online publication, 30 March 2011; doi:10.1038/ejhg.2011.24.
4. Sihvonen J. {{[Neuropsychiatric coaching of an adult with Asperger syndrome]}}. {Duodecim};2011;127(2):118-125.
Asperger syndrome is a lifelong neurodevelopmental condition. The major features of the syndrome include problems in social interaction and communication, narrow interests and stereotyped behaviour. Cognitive abilities are usually within normal. The syndrome potentially leads to a diminished level of life management in adulthood. Neuropsychiatric coaching is a solution-focused and practically oriented process of interventions for clients with neurodevelopmental problems. The methods include forms of evaluation and self reflection, structuring, guidance and visualization aids. Coaching does not exclude simultaneous therapeutic elements. The effectiveness has not yet been established by research, but the experiences reported have been encouraging. Neuropsychiatric coaching is recommended for adults with Asperger syndrome to rehabilitate life management skills.
5. Wiggins LD, Robins DL, Adamson LB, Bakeman R, Henrich CC. {{Support for a Dimensional View of Autism Spectrum Disorders in Toddlers}}. {J Autism Dev Disord};2011 (Mar 30)
We examined whether clinically distinct subgroups can be derived from a sample of toddlers (n = 186) who failed the Modified Checklist for Autism in Toddlers, received a comprehensive clinical evaluation, and were diagnosed with an autism spectrum disorder (ASD). Three subgroups emerged from cluster analysis distinguished by (a) social, communication, and intellectual skills and (b) the rate and intensity of repetitive behaviors and abnormal sensory response. Preoccupations, compulsions, and rituals did not distinguish resultant subgroups. These results support a dimensional diagnostic view of ASDs in toddlers since subgroup differences were based on symptom severity rather than different symptom profiles. Results also identify specific types and levels of behavioral deficit relevant to toddler populations. Implications for early diagnosis are discussed.
