1. {{[Catecholamines and their metabolites in children with Asperger and Kanner syndromes]}}. {Biomed Khim};2011 (Sep-Oct);57(5):562-570.
Children with Asperger and Kanner syndromes in the stable state demonstrate similar decrease in plasma norepinephrine. In the aggravated state, these changes become more expressed and are characterized by a decrease in plasma tyrosine, norepinephrine, normetanephrine and by an increase in dopamine and homovanylic acid and a decrease in excretion of norepinephrine and an increase in excretion of homovanylic acid, epinephrine and MHPG. Only in children with Kanner syndrome in the aggravated state plasma MHPG increases, excretion of tyrosine decreases and excretion of normetanephrine increases. The observed imbalance in dopamine and epinephrine/norepinephrine systems justifies combined analysis of changes in catecholamines and their metabolites levels as the most informative approach in the study of the effect of autistic disorders.
2. Alesi V, Bertoli M, Barrano G, Torres B, Pusceddu S, Pastorino M, Perria C, Nardone AM, Novelli A, Serra G. {{335,4 kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features}}. {Gene};2012 (May 24)
About 10% of causative mutations for mental retardation in male patients involves X chromosome (X-linked mental retardation, XLMR). We describe a case of a 3-year-old boy presenting with developmental delay, autistic features and growth and speech delay. Array-CGH analysis detected a microduplication on the X chromosome (Xp11.2p11.3), spanning 335,4kb and including 3 known genes (ZNF81, ZNF182 and SPACA5). Genome-wide association studies show that approximately 30% of mutations causing XLMR are located in Xp11.2p11.3, where few pathogenic genes have been identified to date (such as ZNF41, PQB1 and ZNF81). ZNF81 codifies a zinc finger protein and mutations (non-sense mutations, deletions and structural rearrangements) involving this gene have already been described in association with mental retardation. Larger duplications in the same region have also been observed in association with mental retardation, and, in one case, the over-expression of ZNF81 has also been verified by mRNA quantification. No duplications of the single gene have been identified. To our knowledge, the microduplication found in our patient is the smallest ever described in Xp11.2p11.3. This suggests that the over-expression of ZNF81 could have pathological effects.
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3. Anderson CJ, Colombo J, Unruh KE. {{Pupil and salivary indicators of autonomic dysfunction in autism spectrum disorder}}. {Dev Psychobiol};2012 (May 29)
Dysregulated tonic pupil size has been reported in autism spectrum disorder (ASD). Among the possible sources of this dysregulation are disruptions in the feedback loop between norepinephrine (NE) and hypothalamic systems. In the current study, we examined afternoon levels of salivary alpha-amylase (sAA, a putative correlate of NE) and cortisol (used to assess stress-based responses) in two independent samples of children with ASD. We found a larger pupil size and lower sAA levels in ASD, compared to typical and clinical age-matched controls. This was substantiated at the individual level, as sAA levels were strongly correlated with tonic pupil size. Relatively little diurnal variation in sAA taken in the home environment in the ASD group was also observed, while typical controls showed a significant linear increase throughout the day. Results are discussed in terms of potential early biomarkers and the elucidation of underlying neural dysfunction in ASD. (c) 2012 Wiley Periodicals, Inc. Dev Psychobiol.
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4. Attermann J, Obel C, Bilenberg N, Nordenbaek CM, Skytthe A, Olsen J. {{Traits of ADHD and autism in girls with a twin brother: a Mendelian randomization study}}. {Eur Child Adolesc Psychiatry};2012 (May 29)
It has been hypothesized that prenatal exposure to testosterone may be associated with traits of attention-deficit/hyperactivity disorder (ADHD) or autism spectrum disorder (ASD). We conducted a population-based study of dizygotic female twins to elucidate this hypothesis, assuming that the sex of the co-twin influences the level of prenatal exposure to testosterone. We invited parents of 24,552 3- to 15-year-old twins to answer questionnaires on traits of ADHD and ASD. We analysed the data using a proportional odds model with sex of the co-twin as an instrumental variable for prenatal exposure to testosterone of female twins. We received responses for 6,339 girls from dizygotic twin pairs. Odds ratios for male versus female co-twin were 0.71 (95 % confidence interval 0.61-0.81) for ADHD traits and 0.74 (0.66-0.83) for ASD traits, indicating that a twin brother reduces traits of ADHD and ASD in females. In conclusion, we found that female twins with a twin brother scored significantly lower in parent-reported traits of ADHD and ASD than those with a twin sister. The reason for this may be parental reporting bias, or confounding by unmeasured variables, or a causal effect of an intrauterine environment modified by the sex of the co-twin in the opposite direction of what we expected.
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5. Chambers H, Becker RE, Hoffman MT, Hartley-McAndrew M, Stein MT. {{Managing Behavior for a Child With Autism in a Body Cast}}. {J Dev Behav Pediatr};2012 (May 24)
CASE:: Elisa is a 6 (1/2)-year-old white female who has a follow-up appointment in the Developmental Clinic where she is seen for autism, developmental delay, and significant behavioral problems. Her grandparents, who are her legal guardians, request an opinion on a proposed surgery for developmental dysplasia of the hip that will require several months in a whole body cast. Reconstruction of the hip was recommended by 2 pediatric orthopedic surgeons to prevent later disability and pain.Elisa was born following a 41-week gestation. She sat without support at 7 months, but she did not walk until 23 months of age. An evaluation at the Developmental Clinic at 28 months of age documented gross and fine motor delays, cognitive impairment, and autism. A karyotype, fragile X, and microarray were normal. Elisa has a brother with autism and a maternal cousin with mental retardation. After her mother’s death from meningitis 2 years ago, her maternal grandparents became her legal guardian.Behavior problems include significant hyperactivity, impulsivity, and aggressive behaviors. She seldom sits still. She also has frequent stereotypies, such as jumping and arm flapping when she is excited or upset. Methylphenidate was associated with increased hyperactivity and irritability.Physical examination demonstrates that she can walk with a very wide gait and swings her right foot out. A magnetic resonance imaging of her brain, acoustic brain response audiometry, and metabolic studies are normal. Other medical issues include gastroesophageal reflux, recurrent pneumonia, and ear infections. Radiographs of the hip reveal a steep acetabulum and a hip that easily dislocates. A magnetic resonance imaging of the hip shows early formation of a pseudoarthrosis. Her grandparents and pediatrician are concerned about managing her behavior after the surgery when she will be in a body cast.
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6. Clopper CG, Rohrbeck KL, Wagner L. {{Perception of Talker Age by Young Adults with High-Functioning Autism}}. {J Autism Dev Disord};2012 (May 26)
People with high-functioning Autism (HFA) can accurately identify social categories from speech, but they have more difficulty connecting linguistic variation in the speech signal to social stereotypes associated with those categories. In the current study, the perception and evaluation of talker age by young adults with HFA was examined. The participants with HFA performed similarly to a typically-developing comparison group in age classification and estimation tasks. Moreover, the participants with HFA were able to differentiate among talkers of different ages in a language attitudes task and rated older talkers as more intelligent than younger talkers. These results suggest that people with HFA are able to make reasonable social judgments about talkers based on their speech, at least for familiar social categories and personally relevant social attitudes.
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7. Daly EM, Deeley Q, Ecker C, Craig M, Hallahan B, Murphy C, Johnston P, Spain D, Gillan N, Brammer M, Giampietro V, Lamar M, Page L, Toal F, Cleare A, Surguladze S, Murphy DG. {{Serotonin and the Neural Processing of Facial Emotions in Adults With Autism: An fMRI Study Using Acute Tryptophan DepletionFacial Emotion Processing in Adults With Autism}}. {Arch Gen Psychiatry};2012 (Jun 4):1-11.
CONTEXT People with autism spectrum disorders (ASDs) have lifelong deficits in social behavior and differences in behavioral as well as neural responses to facial expressions of emotion. The biological basis to this is incompletely understood, but it may include differences in the role of neurotransmitters such as serotonin, which modulate facial emotion processing in health. While some individuals with ASD have significant differences in the serotonin system, to our knowledge, no one has investigated its role during facial emotion processing in adults with ASD and control subjects using acute tryptophan depletion (ATD) and functional magnetic resonance imaging. OBJECTIVE To compare the effects of ATD on brain responses to primary facial expressions of emotion in men with ASD and healthy control subjects. DESIGN Double-blind, placebo-controlled, crossover trial of ATD and functional magnetic resonance imaging to measure brain activity during incidental processing of disgust, fearful, happy, and sad facial expressions. SETTING Institute of Psychiatry, King’s College London, and South London and Maudsley National Health Service Foundation Trust, England. PARTICIPANTS Fourteen men of normal intelligence with autism and 14 control subjects who did not significantly differ in sex, age, or overall intelligence. MAIN OUTCOME MEASURES Blood oxygenation level-dependent response to facial expressions of emotion. RESULTS Brain activation was differentially modulated by ATD depending on diagnostic group and emotion type within regions of the social brain network. For example, processing of disgust faces was associated with interactions in medial frontal and lingual gyri, whereas processing of happy faces was associated with interactions in middle frontal gyrus and putamen. CONCLUSIONS Modulation of the processing of facial expressions of emotion by serotonin significantly differs in people with ASD compared with control subjects. The differences vary with emotion type and occur in social brain regions that have been shown to be associated with group differences in serotonin synthesis/receptor or transporter density.
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8. Elison JT, Sasson NJ, Turner-Brown LM, Dichter G, Bodfish JW. {{Age Trends in Visual Exploration of Social and Nonsocial Information in Children with Autism}}. {Res Autism Spectr Disord};2012 (Apr);6(2):842-851.
Because previous studies of attention in autism spectrum disorders (ASD) have been restricted in age range examined, little is known about how these processes develop over the course of childhood. In this study we examined cross-sectional age effects on patterns of visual attention to social and nonsocial information in 43 typically developing children and 51 children with ASD ranging in age from 2 to 18. Results indicated a sharp increase in visual exploration with age and a decrease in perseverative and detail-focused attention for both groups of children. However, increased age was associated with greater increases in visual exploration for typically developing children than for those children with ASD. The developmental differences were most pronounced for attention to certain nonsocial stimuli as children with ASD demonstrated a disproportionate attentional bias for these stimuli from very early in life. Disproportionate visual attention to certain nonsocial objects relative to social stimuli in ASD spanned from early to late childhood, and thus may represent both an early and a persistent characteristic of the disorder.
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9. Giesbers S, Didden R, Radstaake M, Korzilius H, von Gontard A, Lang R, Smeets E, Curfs LM. {{Incontinence in Individuals with Rett Syndrome: A Comparative Study}}. {J Dev Phys Disabil};2012 (Jun);24(3):287-300.
Frequency and type of incontinence and its association with other variables were assessed in females with Rett Syndrome (RS) (n = 63), using an adapted Dutch version of the ‘Parental Questionnaire: Enuresis/Urinary Incontinence’ (Beetz et al. 1994). Also, incontinence in RS was compared to a control group consisting of females with non-specific (mixed) intellectual disability (n = 26). Urinary incontinence (UI) (i.e., daytime incontinence and nocturnal enuresis) and faecal incontinence (FI) were found to be common problems among females with RS that occur in a high frequency of days/nights. UI and FI were mostly primary in nature and occur independent of participants’ age and level of adaptive functioning. Solid stool, lower urinary tract symptoms and urinary tract infections (UTI’s) were also common problems in females with RS. No differences in incontinence between RS and the control group were found, except for solid stool that was more common in RS than in the control group. It is concluded that incontinence is not part of the behavioural phenotype of RS, but that there is an increased risk for solid stool in females with RS.
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10. Hillbrand M, Sondik T. {{Commentary: treatment and violence risk mitigation in high-functioning autism spectrum individuals}}. {J Am Acad Psychiatry Law};2012;40(2):191-192.
The article by Lerner and colleagues will allow forensic clinicians to gain more understanding of how the specific cognitive deficits in persons with high-functioning autism spectrum disorder (HFASD) relate to the propensity of these individuals to engage in cognitive distortions associated with violence. These deficits are relevant to a variety of forensic evaluations of matters such as criminal responsibility. We argue that they also have implications for the treatment and risk mitigation of individuals with HFASD who have engaged in violent behavior.
11. Karvat G, Kimchi T. {{Systematic autistic-like behavioral phenotyping of 4 mouse strains using a novel wheel-running assay}}. {Behav Brain Res};2012 (May 23)
Three core symptoms of autistic spectrum disorders are stereotypic movements, resistance to change in routines and deficits in social interaction. In order to understand their neuronal mechanisms, there is a dire need for behavioral paradigms to assess those symptoms in rodents. Here we present a novel method which is based on positive reward in a customized wheel-running apparatus to assess these symptoms. As a proof of concept, 4 mouse strains were tested in the new behavioral paradigm; 2 control lines (C57BL/6 and ICR) and 2 mouse-models of autism (BTBR and Nlgn3(tm1Sud)). We found that the C57BL/6, ICR and Nlgn3(tm1Sud) mice showed a significant reduction in stereotypical behavior in the presence of the running wheel, ability to forfeit the running habit when the running-wheel was jammed, and preference of interacting with a social stimulus over the jammed running-wheel. No difference was found between genotypes of the Nlgn3(tm1Sud) mice. On the other hand, the BTBR T+ tf/J mice exhibited persistent, elevated levels of stereotypical behavior. In addition, they presented a deficit in their ability to adjust to a changing environment, as manifested in persistence to interact with the wheel even when it was jammed. Lastly, the BTBR T+ tf/J mice exhibited no significant preference to interact with the stranger mouse over the jammed running-wheel. These results were validated by a set of commonly used behavioral tests. Overall, our novel behavioral paradigm detects multiple components of autistic-like phenotypes, including cognitive rigidity, stereotypic behavior and social deficiency.
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12. Lerner MD, Haque OS, Northrup EC, Lawer L, Bursztajn HJ. {{Emerging perspectives on adolescents and young adults with high-functioning autism spectrum disorders, violence, and criminal law}}. {J Am Acad Psychiatry Law};2012;40(2):177-190.
As the prevalence of autism spectrum disorders (ASDs) has increased, attention has shifted toward consideration of ASDs in adolescence and adulthood, as well as public health repercussions for this population. Since the social and emotional deficits within ASDs may be salient during incidents of unintended criminal or violent behavior, one area of focus is involvement of adolescents and young adults with ASD in the criminal justice system. Without a thorough understanding of how and why individuals with ASDs may exhibit criminal behavior, judicial and legislative state systems have begun to develop policies lacking a substantial evidence base. In this article, we attempt to synthesize the literature on one type of ASD (high functioning) and criminal behavior. Three specific deficits characteristic of individuals with ASDs (theory of mind, emotion regulation, and moral reasoning) are examined as potential confluent forces leading to criminal behavior among individuals with ASDs. Legal and policy recommendations are presented.
13. Mazefsky CA, Pelphrey KA, Dahl RE. {{The Need for a Broader Approach to Emotion Regulation Research in Autism}}. {Child Dev Perspect};2012 (Mar 1);6(1):92-97.
Maladaptive emotional reactions are common among individuals diagnosed with an autism spectrum disorder (ASD) and often impair functioning. Most research on emotional processes in ASD has focused on the recognition of emotion in others. This article argues for a broader approach to affective research in ASD, one that includes investigations into emotional reactivity and regulation. For example, research has typically looked at perseveration in ASD from a cognitive or perceptual perspective, yet perseveration also appears to have emotional aspects. This article discusses examples of emotion regulation research in other populations to illustrate how this approach could inform understanding of perseveration in ASD, particularly related to affective interference with cognitive control. More broadly, it highlights the potential contributions of emotion regulation research in ASD in relation to improving treatment specificity, increasing understanding of individual differences and diagnostic conceptualizations, and, potentially, contributing to a deeper understanding the neurobehavioral underpinnings of ASD.
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14. Neal D, Matson JL, Belva BC. {{Discriminant analysis of the autism spectrum disorder observation for children}}. {Dev Neurorehabil};2012 (May 25)
Purpose: To run a discriminant analysis on the individual items and the total scale of the ASD-OC to determine if they significantly discriminated between ASD and atypical groups. Method: The measure was administered to 78 children as part of an outpatient evaluation. Results: The DA revealed that all of the items, excluding five, were significant predictors by themselves. Additionally, Wilks’ lambda was significant, lambda = 0.16, chi(2 )= 115.91, p < 0.001 for the function, indicating that all of the items together significantly discriminated between groups. The DA was run again excluding those items mentioned above and the variability accounted for by all of the items and prediction of group membership decreased. Therefore, all 45 items were retained for inclusion in the final version of the ASD-OC. Conclusion: The ASD-OC is able to discriminate between ASD and atypical groups.
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15. Smith LE, Maenner MJ, Seltzer MM. {{Developmental trajectories in adolescents and adults with autism: the case of daily living skills}}. {J Am Acad Child Adolesc Psychiatry};2012 (Jun);51(6):622-631.
OBJECTIVE: This study aimed to investigate the longitudinal course of daily living skills in a large, community-based sample of adolescents and adults with autism spectrum disorders (ASD) over a 10-year period. METHOD: Adolescents and adults with ASD (n = 397) were drawn from an ongoing, longitudinal study of individuals with ASD and their families. A comparison group of 167 individuals with Down syndrome (DS) were drawn from a linked longitudinal study. The Waisman Activities of Daily Living Scale was administered four times over a 10-year period. RESULTS: We used latent growth curve modeling to examine change in daily living skills. Daily living skills improved for the individuals with ASD during adolescence and their early 20s, but plateaued during their late 20s. Having an intellectual disability was associated with lower initial levels of daily living skills and a slower change over time. Individuals with DS likewise gained daily living skills over time, but there was no significant curvature in the change. CONCLUSIONS: Future research should explore what environmental factors and interventions may be associated with continued gains in daily living skills for adults with ASD.
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16. Wong JD, Seltzer MM, Greenberg JS, Hong J, Almeida DM, Coe CL. {{Stressful life events and daily stressors affect awakening cortisol level in midlife mothers of individuals with autism spectrum disorders}}. {Aging Ment Health};2012 (May 29)
Objectives: The current study examines the awakening cortisol level in midlife mothers (M = 51.4 years old, SD = 8.4) of individuals (M = 22.1 years old, SD = 7.1) with autism spectrum disorders (ASD) under stressful conditions that are not specific to their son or daughter’s ASD symptoms. Methods: In addition to completing a set of questionnaires and in-home interviews, 82 mothers from the Adolescents and Adults with Autism Study (AAA) participated in a Daily Diary Study. Results: Findings from the multilevel models indicated that mothers who previously were exposed to no negative life events in the previous period had an increased awakening cortisol level on days following a greater number and more severe stressors, a normative stress response. In contrast, we observed a flatter cortisol level of daily stressors in mothers who experienced a greater number of negative life events in the previous period. Conclusion: These findings highlight the sustained toll that global and everyday stressors have on awakening cortisol level of midlife and aging mothers of individuals with ASD.
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17. Wu ZT, Zhang W, Zhang SQ, Yu JG, Lei H, Wang WZ, Liu XH. {{Lack of Association between Parental ABO Blood Type and Autism Spectrum Disorders}}. {CNS Neurosci Ther};2012 (May 28)
