1. {{What is fragile X syndrome? Fact sheet}}. {J Okla State Med Assoc};2012 (Aug);105(8):327.
2. Aoki Y, Abe O, Yahata N, Kuwabara H, Natsubori T, Iwashiro N, Takano Y, Inoue H, Kawakubo Y, Gonoi W, Sasaki H, Murakami M, Katsura M, Nippashi Y, Takao H, Kunimatsu A, Matsuzaki H, Tsuchiya KJ, Kato N, Kasai K, Yamasue H. {{Absence of age-related prefrontal NAA change in adults with autism spectrum disorders}}. {Transl Psychiatry};2012;2:e178.
Atypical trajectory of brain growth in autism spectrum disorders (ASDs) has been recognized as a potential etiology of an atypical course of behavioral development. Numerous neuroimaging studies have focused on childhood to investigate atypical age-related change of brain structure and function, because it is a period of neuron and synapse maturation. Recent studies, however, have shown that the atypical age-related structural change of autistic brain expands beyond childhood and constitutes neural underpinnings for lifelong difficulty to behavioral adaptation. Thus, we examined effects of aging on neurochemical aspects of brain maturation using 3-T proton magnetic resonance spectroscopy ((1)H-MRS) with single voxel in the medial prefrontal cortex (PFC) in 24 adult men with non-medicated high-functioning ASDs and 25 age-, IQ- and parental-socioeconomic-background-matched men with typical development (TD). Multivariate analyses of covariance demonstrated significantly high N-acetylaspartate (NAA) level in the ASD subjects compared with the TD subjects (F=4.83, P=0.033). The low NAA level showed a significant positive correlation with advanced age in the TD group (r=-0.618, P=0.001), but was not evident among the ASD individuals (r=0.258, P=0.223). Fisher’s r-to-z transformation showed a significant difference in the correlations between the ASD and TD groups (Z=-3.23, P=0.001), which indicated that the age-NAA relationship was significantly specific to people with TD. The current (1)H-MRS study provided new evidence that atypical age-related change of neurochemical aspects of brain maturation in ASD individuals expands beyond childhood and persists during adulthood.
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3. Bons D, van den Broek E, Scheepers F, Herpers P, Rommelse N, Buitelaaar JK. {{Motor, Emotional, and Cognitive Empathy in Children and Adolescents with Autism Spectrum Disorder and Conduct Disorder}}. {J Abnorm Child Psychol};2012 (Oct 25)
It is unclear which aspects of empathy are shared and which are uniquely affected in autism spectrum disorder (ASD) and conduct disorder (CD) as are the neurobiological correlates of these empathy impairments. The aim of this systematic review is to describe the overlap and specificity of motor, emotional, and cognitive aspects of empathy in children and adolescents with ASD or CD. Motor and cognitive empathy impairments are found in both ASD and CD, yet the specificity seems to differ. In ASD facial mimicry and emotion recognition may be impaired for all basic emotions, whereas in CD this is only the case for negative emotions. Emotional empathy and the role of attention to the eyes therein need further investigation. We hypothesize that impaired motor and cognitive empathy in both disorders are a consequence of lack of attention to the eyes. However, we hypothesize major differences in emotional empathy deficits between ASD and CD, probably due to emotional autonomic and amygdala hyper-responsivity in ASD versus hypo-responsivity in CD, both resulting in lack of attention to the eyes.
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4. Lai MC, Lombardo MV, Ruigrok AN, Chakrabarti B, Wheelwright SJ, Auyeung B, Allison C, Baron-Cohen S. {{Cognition in males and females with autism: similarities and differences}}. {PLoS One};2012;7(10):e47198.
The male bias in autism spectrum conditions (ASC) has led to females with ASC being under-researched. This lack of attention to females could hide variability due to sex that may explain some of the heterogeneity within ASC. In this study we investigate four key cognitive domains (mentalizing and emotion perception, executive function, perceptual attention to detail, and motor function) in ASC, to test for similarities and differences between males and females with and without ASC (n = 128 adults; n = 32 per group). In the mentalizing and facial emotion perception domain, males and females with ASC showed similar deficits compared to neurotypical controls. However, in attention to detail and dexterity involving executive function, although males with ASC showed poorer performance relative to neurotypical males, females with ASC performed comparably to neurotypical females. We conclude that performance in the social-cognitive domain is equally impaired in male and female adults with ASC. However, in specific non-social cognitive domains, performance within ASC depends on sex. This suggests that in specific domains, cognitive profiles in ASC are modulated by sex.
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5. Laugeson EA. {{Review: social skills groups may improve social competence in children and adolescents with autism spectrum disorder}}. {Evid Based Ment Health};2012 (Oct 23)
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6. Nava C, Lamari F, Heron D, Mignot C, Rastetter A, Keren B, Cohen D, Faudet A, Bouteiller D, Gilleron M, Jacquette A, Whalen S, Afenjar A, Perisse D, Laurent C, Dupuits C, Gautier C, Gerard M, Huguet G, Caillet S, Leheup B, Leboyer M, Gillberg C, Delorme R, Bourgeron T, Brice A, Depienne C. {{Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE}}. {Transl Psychiatry};2012;2:e179.
The striking excess of affected males in autism spectrum disorders (ASD) suggests that genes located on chromosome X contribute to the etiology of these disorders. To identify new X-linked genes associated with ASD, we analyzed the entire chromosome X exome by next-generation sequencing in 12 unrelated families with two affected males. Thirty-six possibly deleterious variants in 33 candidate genes were found, including PHF8 and HUWE1, previously implicated in intellectual disability (ID). A nonsense mutation in TMLHE, which encodes the varepsilon-N-trimethyllysine hydroxylase catalyzing the first step of carnitine biosynthesis, was identified in two brothers with autism and ID. By screening the TMLHE coding sequence in 501 male patients with ASD, we identified two additional missense substitutions not found in controls and not reported in databases. Functional analyses confirmed that the mutations were associated with a loss-of-function and led to an increase in trimethyllysine, the precursor of carnitine biosynthesis, in the plasma of patients. This study supports the hypothesis that rare variants on the X chromosome are involved in the etiology of ASD and contribute to the sex-ratio disequilibrium.
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7. Sharony R, Shtorch A, Amiel A, Guetta E, Peleg L, Pras E, Ries-Levavi L. {{Three peaks in the polymerase chain reaction fragile X analysis}}. {J Med Screen};2012;19(3):112-115.
OBJECTIVE: To report and discuss the observation of three fragments on polymerase chain reaction (PCR) in routine carrier screening for fragile X. METHODS: From 2005 through 2010, 34,500 women underwent prenatal screening for fragile X. PCR was carried out to amplify the repeat segment. The resulting fragments were scanned by a genetic analyser. RESULTS: Three PCR peaks representing three different-sized fragments were found in 25 of the 34,500 women (1:1380 or 0.072%). Karyotype analysis was performed in 16 subjects. Full triple X was found in three women, while two had triple X mosaicism. Of the 16 karyotyped women, five (31%) had a finding of XXX (full or mosaic). CONCLUSIONS: Triple X (full or mosaic) is the most frequently encountered mechanism responsible for three peaks on fragile X PCR testing.
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8. van Hulst K, Lindeboom R, van der Burg J, Jongerius P. {{Accurate assessment of drooling severity with the 5-minute drooling quotient in children with developmental disabilities}}. {Dev Med Child Neurol};2012 (Oct 25)
Aim The aims of this study were to examine whether objective measurements of the 10-minute drooling quotient (DQ10) and the 5-minute drooling quotient (DQ5) are interchangeable; to assess agreement between the measurements and their accuracy in classifying drooling severity; and to develop a time-efficient clinical assessment. Method The study cohort included 162 children (61 females, 101 males; mean age 11y 6mo, SD 4y 5mo, range 3y 9mo-22y 1mo) suffering from moderate to profuse drooling. One hundred and twenty-four had cerebral palsy and 38 had other developmental disabilities. Seventy-four of the participants were ambulant and 88 non-ambulant. The original DQ10 was recalculated into a 5-minute score (DQ5). Assessments were undertaken while the participants were in a rest situation (DQ(R) ) and while they were active (DQ(A) ). Agreement in scores was quantified using intraclass correlations and Bland-Altman plots. To classify drooling, area under the receiver operating characteristic curve analysis was used to compare accuracy of the DQ10 and DQ5 at rest and during activity. Results Agreement between DQ10A, and DQ5(A) , and between DQ10(R) and DQ5(R) was high (intraclass correlation coefficient >0.90). Moderate agreement existed between DQ(A) and DQ(R) . DQ(A) scores were more accurate in classifying children’s drooling behaviour. For DQ5(A) , a cut-off point of 18 or more (drooling episodes/observation time) might indicate ‘constant drooling’. Interpretation The DQ10 and DQ5 can be used interchangeably. DQ(A) is most discriminative for drooling severity. For evaluating treatment efficiency the cut-off point can be used. For clinical and research purposes, the DQ5 is time efficient and cost saving while validity, and intrarater and interrater reliability are preserved.
