1. {{Might diet play a role in autism?}}. {Am J Med Genet A};2013 (Feb);161(2):vii-viii.

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2. Adams JB, Audhya T, McDonough-Means S, Rubin RA, Quig D, Geis E, Gehn E, Loresto M, Mitchell J, Atwood S, Barnhouse S, Lee W. {{Toxicological Status of Children with Autism vs. Neurotypical Children and the Association with Autism Severity}}. {Biol Trace Elem Res};2013 (Feb);151(2):171-180.

This study investigates both the level of toxic metals in children with autism and the possible association of those toxic metals with autism severity. This study involved 55 children with autism ages 5-16 years compared to 44 controls with similar age and gender. The study included measurements of toxic metals in whole blood, red blood cells (RBC), and urine. The autism group had higher levels of lead in RBC (+41 %, p = 0.002) and higher urinary levels of lead (+74 %, p = 0.02), thallium (+77 %, p = 0.0001), tin (+115 %, p = 0.01), and tungsten (+44 %, p = 0.00005). However, the autism group had slightly lower levels of cadmium in whole blood (-19 %, p = 0.003). A stepwise, multiple linear regression analysis found a strong association of levels of toxic metals with variation in the degree of severity of autism for all the severity scales (adjusted R (2) of 0.38-0.47, p < 0.0003). Cadmium (whole blood) and mercury (whole blood and RBC) were the most consistently significant variables. Overall, children with autism have higher average levels of several toxic metals, and levels of several toxic metals are strongly associated with variations in the severity of autism for all three of the autism severity scales investigated.

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3. Al-Farsi YM, Waly MI, Al-Sharbati MM, Al-Shafaee MA, Al-Farsi OA, Al-Khaduri MM, Gupta I, Ouhtit A, Al-Adawi S, Al-Said MF, Deth RC. {{Levels of heavy metals and essential minerals in hair samples of children with autism in oman: a case-control study}}. {Biol Trace Elem Res};2013 (Feb);151(2):181-186.

Toxic levels of heavy metals and low levels of essential minerals have been suggested to play a critical role in the pathogenesis of autism spectrum disorders (ASD). This study documents the levels of heavy metals and essential minerals in hair samples of children with ASD in Muscat, the urbanized capital of Oman, Muscat. The study included 27 children with ASD and 27 matched non-ASD controls. Parental interviews were held and dietary intake questionnaires completed in conjunction with the collection of hair samples. Analysis of heavy metals and essential minerals was carried out by inductively coupled plasma mass spectrometry. Chi-square analysis and non-parametric Fisher’s exact tests were used to assess statistical significance. Children with ASD had significantly higher levels of all 11 analyzed heavy metals in their hair samples (P < 0.05), ranging from 150 to 365 % of control levels. ASD children also had significantly higher levels of essential minerals sulfur, sodium, magnesium, potassium, zinc, and iron, but lower levels of calcium and copper in their hair samples. This study corroborates data from previous studies in different parts of the world indicating the presence of elevated levels of heavy metals and selective depletion of essential minerals in the hair of children with ASD.

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4. Allen R, Davis R, Hill E. {{The effects of autism and alexithymia on physiological and verbal responsiveness to music}}. {J Autism Dev Disord};2013 (Feb);43(2):432-444.

It has been suggested that individuals with autism will be less responsive to the emotional content of music than typical individuals. With the aim of testing this hypothesis, a group of high-functioning adults on the autism spectrum was compared with a group of matched controls on two measures of emotional responsiveness to music, comprising physiological and verbal measures. Impairment in participants ability to verbalize their emotions (type-II alexithymia) was also assessed. The groups did not differ significantly on physiological responsiveness, but the autism group was significantly lower on the verbal measure. However, inclusion of the alexithymia score as a mediator variable nullified this group difference, suggesting that the difference was due not to absence of underlying emotional responsiveness to music in autism, but to a reduced ability to articulate it.

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5. Bailey DB, Jr., Lewis MA, Harris SL, Grant T, Bann C, Bishop E, Roche M, Guarda S, Barnum L, Powell C, Therrell BL, Jr. {{Design and evaluation of a decision aid for inviting parents to participate in a fragile x newborn screening pilot study}}. {J Genet Couns};2013 (Feb);22(1):108-117.

The major objectives of this project were to develop and evaluate a brochure to help parents make an informed decision about participation in a fragile X newborn screening study. We used an iterative development process that drew on principles of Informed Decision Making (IDM), stakeholder input, design expertise, and expert evaluation. A simulation study with 118 women examined response to the brochure. An independent review rated the brochure high on informational content, guidance, and values. Mothers took an average of 6.5 min to read it and scored an average of 91.1 % correct on a knowledge test. Most women rated the brochure as high quality and trustworthy. When asked to make a hypothetical decision about study participation, 61.9 % would agree to screening. Structural equation modeling showed that agreement to screening and decisional confidence were associated with perceived quality and trust in the brochure. Minority and white mothers did not differ in perceptions of quality or trust. We demonstrate the application of IDM in developing a study brochure. The brochure was highly rated by experts and consumers, met high standards for IDM, and achieved stated goals in a simulation study. The IDM provides a model for consent in research disclosing complicated genetic information of uncertain value.

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6. Benvenuto A, Battan B, Porfirio MC, Curatolo P. {{Pharmacotherapy of autism spectrum disorders}}. {Brain Dev};2013 (Feb);35(2):119-127.

Although no pharmacological or behavioral therapy has currently proven effective for treating all core symptoms of autism, many dysfunctional behaviors may be treated pharmacologically. Drug treatments should always be part of a comprehensive management plan that includes behavioral and educational interventions, and should be focused on specific targets. Several classes of psychotropic medications have been used to decrease the wide range of « maladaptive » or « interfering » behaviors and associated medical problems that can interfere with relationships and physical health and hinder the implementation of various non-pharmacological interventions. Atypical neuroleptics have been shown to be useful in the treatment of behavioral symptoms in autism. Attention deficit and hyperactivity disorder medications may be effective for counteracting the additional features of hyperactivity and short attention span. Antiepileptic drugs and selective serotonin reuptake inhibitors have shown promising results, but there are no specific indications for them as of yet. With respect to potential drug targets, some clinical features are caused by a dysfunction in neurochemical signaling systems, and thus may improve with selective pharmacological interventions acting on specific abnormal neurobiological pathways. Recent animal studies can be useful models for understanding the common pathogenic pathways leading to autism spectrum disorders (ASDs), and have the potential to offer new biologically focused treatment options.

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7. Bergstrom-Isacsson M, Lagerkvist B, Holck U, Gold C. {{How facial expressions in a Rett syndrome population are recognised and interpreted by those around them as conveying emotions}}. {Res Dev Disabil};2013 (Feb);34(2):788-794.

Rett syndrome (RTT) is a neurodevelopmental disorder, including autonomic nervous system dysfunctions and severe communication impairment with an extremely limited ability to use verbal language. These individuals are therefore dependent on the capacity of caregivers to observe and interpret communicative signals, including emotional expressions. People in general, including therapists tend to focus on changes in facial expressions to interpret a person’s emotional state or choices, but with this population it is difficult to know if the interpretations are correct. The aims of this study were to investigate if the Facial Action Coding System (FACS) could be used to identify facial expressions, and differentiate between those that expressed emotions and those that were elicited by abnormal brainstem activation in RTT. The sample comprised 29 participants with RTT and 11 children with a normal developmental pattern, exposed to six different musical stimuli during non-invasive registration of autonomic brainstem functions. The results indicate that FACS makes it possible both to identify facial expressions and to differentiate between those that stem from emotions and those caused by abnormal brainstem activation. This knowledge may be a great help to an uninitiated observer, who otherwise might incorrectly interpret the latter as an expression of emotion.

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8. Berryer MH, Hamdan FF, Klitten LL, Moller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot-Cerioli M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G. {{Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency}}. {Hum Mutat};2013 (Feb);34(2):385-394.

De novo mutations in SYNGAP1, which codes for a RAS/RAP GTP-activating protein, cause nonsyndromic intellectual disability (NSID). All disease-causing point mutations identified until now in SYNGAP1 are truncating, raising the possibility of an association between this type of mutations and NSID. Here, we report the identification of the first pathogenic missense mutations (c.1084T>C [p.W362R], c.1685C>T [p.P562L]) and three novel truncating mutations (c.283dupC [p.H95PfsX5], c.2212_2213del [p.S738X], and (c.2184del [p.N729TfsX31]) in SYNGAP1 in patients with NSID. A subset of these patients also showed ataxia, autism, and a specific form of generalized epilepsy that can be refractory to treatment. All of these mutations occurred de novo, except c.283dupC, which was inherited from a father who is a mosaic. Biolistic transfection of wild-type SYNGAP1 in pyramidal cells from cortical organotypic cultures significantly reduced activity-dependent phosphorylated extracellular signal-regulated kinase (pERK) levels. In contrast, constructs expressing p.W362R, p.P562L, or the previously described p.R579X had no significant effect on pERK levels. These experiments suggest that the de novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYNGAP1 result in a loss of its function. Moreover, our study confirms the involvement of SYNGAP1 in autism while providing novel insight into the epileptic manifestations associated with its disruption.

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9. Bowling FG, Heussler HS, McWhinney A, Dawson PA. {{Plasma and urinary sulfate determination in a cohort with autism}}. {Biochem Genet};2013 (Feb);51(1-2):147-153.

Sulfate is important for mammalian development but is not routinely measured in clinical settings. The renal NaS1 sulfate transporter maintains circulating sulfate levels and is linked to renal sulfate wasting in mice. Some autistic individuals exhibit renal sulfate wasting, but the etiology is yet unknown. We measured plasma and urinary sulfate levels, calculated the fractional excretion index (FEI) of sulfate, and screened for two loss-of-function NaS1 sequence variants (R12X and N174S) in 23 autistic individuals. The FEI sulfate values ranged from 0.13 to 0.50. NaS1 variants were detected in 18 of the 23 individuals (11 heterozygous N174S, four homozygous N174S, two heterozygous R12X, and one individual carried both R12X and N174S). Those individuals with neither sequence variant had FEI sulfate </= 0.34, whereas FEI sulfate >/= 0.35 was found in about 60 % (11 of 18) of individuals that had R12X and/or N174S. This study links renal sulfate wasting with loss-of-function NaS1 sequence variants in humans.

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10. Brundage SB, Whelan CJ, Burgess CM. {{Brief report: treating stuttering in an adult with autism spectrum disorder}}. {J Autism Dev Disord};2013 (Feb);43(2):483-489.

Stuttering and autism can co-occur and when they do it presents a significant communication challenge. This study examined the effectiveness of a modified version of the fluency rules program (FRP; Runyan and Runyan, Stuttering and related disorders of fluency, in 2007) to reduce stuttering frequency in a man with autism spectrum disorder (ASD). The participant’s percentage of stuttered words (%SW) was calculated during conversational interactions with multiple conversation partners both within and outside of the clinic treatment sessions. Visual inspection methods revealed a reduction in %SW from an average of 14.5 %SW during baseline to 2.07 %SW during the withdrawal phase. The mean baseline reduction in %SW from baseline to the second treatment phase was 91.8 %. The FRP holds promise for reducing %SW in persons with ASD who stutter.

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11. Buon M, Dupoux E, Jacob P, Chaste P, Leboyer M, Zalla T. {{The role of causal and intentional judgments in moral reasoning in individuals with high functioning autism}}. {J Autism Dev Disord};2013 (Feb);43(2):458-470.

In the present study, we investigated the ability to assign moral responsibility and punishment in adults with high functioning autism or Asperger Syndrome (HFA/AS), using non-verbal cartoons depicting an aggression, an accidental harm or a mere coincidence. Participants were asked to evaluate the agent’s causal and intentional roles, his responsibility and the punishment he deserves for his action. Adults with HFA/AS did not differ in judgments of suffering and causality from adults with typical development. However, subtle difficulties with judgments of intentional action and moral judgments were observed in participants with HFA/AS. These results are discussed in the light of emerging studies that deal with integrity of moral reasoning in individuals with autism spectrum disorders.

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12. Cashin A, Browne G, Bradbury J, Mulder A. {{The effectiveness of narrative therapy with young people with autism}}. {J Child Adolesc Psychiatr Nurs};2013 (Feb);26(1):32-41.

PROBLEM: The aim of this pilot study was to be the first step toward empirically determining whether narrative therapy is effective in helping young people with autism who present with emotional and behavioral problems. Autism is increasingly being recognized in young people with average and above intelligence. Because of the nature of autism, these young people have difficulty navigating the challenges of school and adolescence. Narrative therapy can help them with their current difficulties and also help them develop skills to address future challenges. Narrative therapy involves working with a person to examine and edit the stories the person tells himself or herself about the world. It is designed to promote social adaptation while working on specific problems of living. METHOD: This pilot intervention study used a convenience sample of 10 young people with autism (10-16 years) to evaluate the effectiveness of five 1 hr sessions of narrative therapy conducted over 10 weeks. The study used the parent-rated Strengths and Difficulties Questionnaire (SDQ) as the primary outcome measure. Secondary outcome measures were the Kessler-10 Scale of Psychological Distress (K-10), the Beck Hopelessness Scale, and a stress biomarker, the salivary cortisol to dehydroepiandrosterone (DHEA) ratio. FINDINGS: Significant improvement in psychological distress identified through the K-10 was demonstrated. Significant improvement was identified on the Emotional Symptoms Scale of the SDQ. The cortisol:DHEA ratio was responsive and a power analysis indicated that further study is indicated with a larger sample. CONCLUSION: Narrative therapy has merit as an intervention with young people with autism. Further research is indicated.

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13. Chandler S, Carcani-Rathwell I, Charman T, Pickles A, Loucas T, Meldrum D, Simonoff E, Sullivan P, Baird G. {{Parent-Reported Gastro-intestinal Symptoms in Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Feb 1)

The objective of this study is to investigate whether parentally-reported gastro-intestinal (GI) symptoms are increased in a population-derived sample of children with autism spectrum disorders (ASD) compared to controls. Participants included 132 children with ASD and 81 with special educational needs (SEN) but no ASD, aged 10-14 years plus 82 typically developing (TD) children. Data were collected on GI symptoms, diet, cognitive abilities, and developmental histories. Nearly half (weighted rate 46.5 %) of children with ASD had at least one individual lifetime GI symptom compared with 21.8 % of TD children and 29.2 % of those with SEN. Children with ASD had more past and current GI symptoms than TD or SEN groups although fewer current symptoms were reported in all groups compared with the past. The ASD group had significantly increased past vomiting and diarrhoea compared with the TD group and more abdominal pain than the SEN group. The ASD group had more current constipation (when defined as bowel movement less than three times per week) and soiling than either the TD or SEN groups. No association was found between GI symptoms and intellectual ability, ASD severity, ASD regression or limited or faddy diet. Parents report more GI symptoms in children with ASD than children with either SEN or TD children but the frequency of reported symptoms is greater in the past than currently in all groups.

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14. Christakou A, Murphy CM, Chantiluke K, Cubillo AI, Smith AB, Giampietro V, Daly E, Ecker C, Robertson D, Murphy DG, Rubia K. {{Disorder-specific functional abnormalities during sustained attention in youth with Attention Deficit Hyperactivity Disorder (ADHD) and with Autism}}. {Mol Psychiatry};2013 (Feb);18(2):264.

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15. Christakou A, Murphy CM, Chantiluke K, Cubillo AI, Smith AB, Giampietro V, Daly E, Ecker C, Robertson D, Murphy DG, Rubia K. {{Disorder-specific functional abnormalities during sustained attention in youth with Attention Deficit Hyperactivity Disorder (ADHD) and with Autism}}. {Mol Psychiatry};2013 (Feb);18(2):236-244.

Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) are often comorbid and share behavioural-cognitive abnormalities in sustained attention. A key question is whether this shared cognitive phenotype is based on common or different underlying pathophysiologies. To elucidate this question, we compared 20 boys with ADHD to 20 age and IQ matched ASD and 20 healthy boys using functional magnetic resonance imaging (fMRI) during a parametrically modulated vigilance task with a progressively increasing load of sustained attention. ADHD and ASD boys had significantly reduced activation relative to controls in bilateral striato-thalamic regions, left dorsolateral prefrontal cortex (DLPFC) and superior parietal cortex. Both groups also displayed significantly increased precuneus activation relative to controls. Precuneus was negatively correlated with the DLPFC activation, and progressively more deactivated with increasing attention load in controls, but not patients, suggesting problems with deactivation of a task-related default mode network in both disorders. However, left DLPFC underactivation was significantly more pronounced in ADHD relative to ASD boys, which furthermore was associated with sustained performance measures that were only impaired in ADHD patients. ASD boys, on the other hand, had disorder-specific enhanced cerebellar activation relative to both ADHD and control boys, presumably reflecting compensation. The findings show that ADHD and ASD boys have both shared and disorder-specific abnormalities in brain function during sustained attention. Shared deficits were in fronto-striato-parietal activation and default mode suppression. Differences were a more severe DLPFC dysfunction in ADHD and a disorder-specific fronto-striato-cerebellar dysregulation in ASD.

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16. Christie L, Wotton T, Bennetts B, Wiley V, Wilcken B, Rogers C, Boyle J, Turner C, Hansen J, Hunter M, Goel H, Field M. {{Maternal attitudes to newborn screening for fragile X syndrome}}. {Am J Med Genet A};2013 (Feb);161(2):301-311.

Although fragile X syndrome (FXS) is the commonest cause of inherited intellectual disability the mean age of diagnosis in Australia is 5.5 years. Newborn screening for FXS can provide an early diagnosis, preventing the « diagnostic odyssey », allowing access to early interventions, and providing reproductive information for parents. Parents of affected children support newborn screening, but few clinical studies have evaluated community attitudes. A pilot study in 2009-2010 was performed in a tertiary hospital to explore feasibility and maternal attitudes. FXS testing of male and female newborns was offered to mothers in addition to routine newborn screening. Mothers were provided with information about FXS, inheritance pattern, carrier status, and associated adult-onset disorders. One thousand nine hundred seventy-one of 2,094 mothers (94%) consented to testing of 2,000 newborns. 86% completed the attitudinal survey and 10% provided written comments. Almost all parents (99%) elected to be informed of both premutation and full mutation status and there was little concern about identification of carrier status or associated adult-onset disorders. Most mothers (96%) were comfortable being approached in the postnatal period and supported testing because no extra blood test was required. Mothers considered an early diagnosis beneficial to help prepare for a child with additional needs (93%) and for reproductive planning (64%). Some were anxious about the potential test results (10%) and others felt their feelings towards their newborn may change if diagnosed with FXS (16%). High participation rates and maternal attitudes indicate a high level of maternal acceptance and voluntary support for newborn screening for FXS. (c) 2013 Wiley Periodicals, Inc.

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17. Coman D, Alessandri M, Gutierrez A, Novotny S, Boyd B, Hume K, Sperry L, Odom S. {{Commitment to classroom model philosophy and burnout symptoms among high fidelity teachers implementing preschool programs for children with autism spectrum disorders}}. {J Autism Dev Disord};2013 (Feb);43(2):345-360.

Teacher commitment to classroom model philosophy and burnout were explored in a sample of 53 teachers implementing three preschool models at high levels of fidelity for students with autism: Treatment and Education of Autistic and Related Communication Handicapped Children (TEACCH); Learning Experiences and Alternative Program for Preschoolers and Their Parents (LEAP); and high quality special education programs (HQSEP’s). Relative to the other groups, LEAP teachers reported significantly higher levels of commitment to LEAP philosophy while TEACCH teachers did not report significantly higher commitment levels to TEACCH philosophy. Teachers in HQSEP’s reported similar levels of commitment to TEACCH and LEAP. Burnout was also low to moderate in this sample relative to normative data. Implications for school districts and teachers are discussed.

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18. Constantino JN, Todorov A, Hilton C, Law P, Zhang Y, Molloy E, Fitzgerald R, Geschwind D. {{Autism recurrence in half siblings: strong support for genetic mechanisms of transmission in ASD}}. {Mol Psychiatry};2013 (Feb);18(2):137-138.

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19. Corsello CM, Akshoomoff N, Stahmer AC. {{Diagnosis of autism spectrum disorders in 2-year-olds: a study of community practice}}. {J Child Psychol Psychiatry};2013 (Feb);54(2):178-185.

Background: Longitudinal research studies have demonstrated that experienced clinicians using standardized assessment measures can make a reliable diagnosis of autism spectrum disorders (ASDs) in children under age 3. Limited data are available regarding the sensitivity and specificity of these measures in community settings. The aims of this study were to determine how well a standardized diagnostic observational measure (Autism Diagnostic Observation Schedule – ADOS) functions alone, and with a brief parent measure within a community setting when administered by community clinicians. Methods: Clinical records for 138 children between the ages of 24 and 36 months of age who were evaluated for possible ASD or social/language concerns at a hospital-based developmental evaluation clinic were examined. Evaluations were conducted by community-based clinical psychologists. Classification results obtained from standardized diagnostic measures were compared with case reviewer diagnosis, by reviewers blind to scores on diagnostic measures, using The Records-based Methodology for ASD Case Definition that was developed by the Metropolitan Atlanta Developmental Disabilities Surveillance Program. Results: When compared with case review diagnosis, the ADOS demonstrated strong sensitivity and specificity for both Autism versus Not Autism and ASD versus Nonspectrum (NS) diagnoses in this young sample. The Social Communication Questionnaire (SCQ), using the lower cutoff of >/=12, had adequate sensitivity when differentiating Autism from Not Autism, but weak sensitivity when differentiating ASD from NS, missing about 80% of the children with pervasive developmental disorder – not otherwise specified. Using either the Modified Checklist for Autism in Toddlers or the SCQ in combination with the ADOS did not result in improved specificity over the ADOS alone and led to a drop in sensitivity when differentiating ASD from NS disorders. Conclusions: These results demonstrate that following best practice guidelines, the ADOS can be successfully incorporated into clinical practice with relatively good sensitivity and specificity, and worked well with a referred sample of 2-year-olds. A parent questionnaire did not lead to any improvement in diagnostic classification above the ADOS used in isolation.

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20. Doi H, Fujisawa TX, Kanai C, Ohta H, Yokoi H, Iwanami A, Kato N, Shinohara K. {{Recognition of Facial Expressions and Prosodic Cues with Graded Emotional Intensities in Adults with Asperger Syndrome}}. {J Autism Dev Disord};2013 (Feb 1)

This study investigated the ability of adults with Asperger syndrome to recognize emotional categories of facial expressions and emotional prosodies with graded emotional intensities. The individuals with Asperger syndrome showed poorer recognition performance for angry and sad expressions from both facial and vocal information. The group difference in facial expression recognition was prominent for stimuli with low or intermediate emotional intensities. In contrast to this, the individuals with Asperger syndrome exhibited lower recognition accuracy than typically-developed controls mainly for emotional prosody with high emotional intensity. In facial expression recognition, Asperger and control groups showed an inversion effect for all categories. The magnitude of this effect was less in the Asperger group for angry and sad expressions, presumably attributable to reduced recruitment of the configural mode of face processing. The individuals with Asperger syndrome outperformed the control participants in recognizing inverted sad expressions, indicating enhanced processing of local facial information representing sad emotion. These results suggest that the adults with Asperger syndrome rely on modality-specific strategies in emotion recognition from facial expression and prosodic information.

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21. Dratsch T, Schwartz C, Yanev K, Schilbach L, Vogeley K, Bente G. {{Getting a Grip on Social Gaze: Control over Others’ Gaze Helps Gaze Detection in High-Functioning Autism}}. {J Autism Dev Disord};2013 (Feb);43(2):286-300.

We investigated the influence of control over a social stimulus on the ability to detect direct gaze in high-functioning autism (HFA). In a pilot study, 19 participants with and 19 without HFA were compared on a gaze detection and a gaze setting task. Participants with HFA were less accurate in detecting direct gaze in the detection task, but did not differ in their ability to establish direct gaze in the setting task. In the main experiment, the results of the pilot study were replicated with 37 participants with and 39 without HFA, suggesting that individuals with HFA have a specific deficit in the passive perception of social cues as opposed to the active control, which seems to be intact.

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22. Estes A, Olson E, Sullivan K, Greenson J, Winter J, Dawson G, Munson J. {{Parenting-related stress and psychological distress in mothers of toddlers with autism spectrum disorders}}. {Brain Dev};2013 (Feb);35(2):133-138.

Background:Parents of children with autism spectrum disorders (ASDs) are at risk for higher stress levels than parents of children with other developmental disabilities and typical development. Recent advances in early diagnosis have resulted in younger children being diagnosed with ASDs but factors associated with parent stress in this age group are not well understood. Aims: The present study examined parenting-related stress and psychological distress in mothers of toddlers with ASD, developmental delay without ASD (DD), and typical development. The impact of child problem behavior and daily living skills on parenting-stress and psychological distress were further investigated. Methods: Participants were part of a larger research study on early ASD intervention. Results: Parent self-report of parenting-related stress and psychological distress was utilized. Parents of toddlers with ASD demonstrated increased parenting-related stress compared with parents of toddlers with DD and typical development. However, psychological distress did not differ significantly between the groups. Child behavior problems, but not daily living skills emerged as a significant predictor of parenting-related stress and psychological distress. This was true for both mothers of children with ASD and DD. Conclusions: These finding suggest that parents’ abilities to manage and reduce behavior problems is a critical target for interventions for young children with ASD and DD in order to improve child functioning and decrease parenting-related stress.

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23. Fein D, Barton M, Eigsti IM, Kelley E, Naigles L, Schultz RT, Stevens M, Helt M, Orinstein A, Rosenthal M, Troyb E, Tyson K. {{Optimal outcome in individuals with a history of autism}}. {J Child Psychol Psychiatry};2013 (Feb);54(2):195-205.

Background: Although autism spectrum disorders (ASDs) are generally considered lifelong disabilities, literature suggests that a minority of individuals with an ASD will lose the diagnosis. However, the existence of this phenomenon, as well as its frequency and interpretation, is still controversial: were they misdiagnosed initially, is this a rare event, did they lose the full diagnosis, but still suffer significant social and communication impairments or did they lose all symptoms of ASD and function socially within the normal range? Methods: The present study documents a group of these optimal outcome individuals (OO group, n = 34) by comparing their functioning on standardized measures to age, sex, and nonverbal IQ matched individuals with high-functioning autism (HFA group, n = 44) or typical development (TD group, n = 34). For this study, ‘optimal outcome’ requires losing all symptoms of ASD in addition to the diagnosis, and functioning within the nonautistic range of social interaction and communication. Domains explored include language, face recognition, socialization, communication, and autism symptoms. Results: Optimal outcome and TD groups’ mean scores did not differ on socialization, communication, face recognition, or most language subscales, although three OO individuals showed below-average scores on face recognition. Early in their development, the OO group displayed milder symptoms than the HFA group in the social domain, but had equally severe difficulties with communication and repetitive behaviors. Conclusions: Although possible deficits in more subtle aspects of social interaction or cognition are not ruled out, the results substantiate the possibility of OO from autism spectrum disorders and demonstrate an overall level of functioning within normal limits for this group.

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24. Felce D, Kerr M. {{Investigating low adaptive behaviour and presence of the triad of impairments characteristic of autistic spectrum disorder as indicators of risk for challenging behaviour among adults with intellectual disabilities}}. {J Intellect Disabil Res};2013 (Feb);57(2):128-138.

Background Identification of possible personal indicators of risk for challenging behaviour has generally been through association in cross-sectional prevalence studies, but few analyses have controlled for intercorrelation between potential risk factors. The aim was to investigate the extent to which gender, age, presence of the triad of impairments characteristic of autism and level of adaptive behaviour were independently associated with level of challenging behaviour among adults with intellectual disabilities. Methods Five datasets were merged to produce information on challenging behaviour, adaptive behaviour, presence of the triad of impairments, gender and age of 818 adults. Variables were entered into a multivariate linear regression, which also tested the interaction between the presence of the triad of impairments and level of adaptive behaviour. Results Presence of the triad of impairments, level of adaptive behaviour, their interaction, and age, but not gender, significantly and independently contributed to the prediction of challenging behaviour. Presence/absence of the triad of impairments moderated the effect of adaptive behaviour on challenging behaviour. The inverse relationship found in the absence of the triad of impairments was virtually removed when present. Conclusions This study has shown that it is necessary to control for intercorrelation between potential risk factors for challenging behaviour and to explore how interaction between them might moderate associations.

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25. Feliciano P. {{Hotspots in autism}}. {Nat Genet};2013 (Feb);45(2):123.

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26. Garg S, Lehtonen A, Huson SM, Emsley R, Trump D, Evans DG, Green J. {{Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study}}. {Dev Med Child Neurol};2013 (Feb);55(2):139-145.

Aim To investigate psychopathology in children with neurofibromatosis type 1 (NF1), particularly the prevalence of autism spectrum disorder (ASD) and attention-deficit-hyperactivity disorder (ADHD) symptomatology, using a population-based sampling approach. Method Standard questionnaire screen reports were analysed for ASD (Social Responsiveness Scale, SRS), ADHD (Conners’ Parent Rating Scale- Revised, CPRS-R), and other psychiatric morbidity (Strengths and Difficulties Questionnaire, SDQ) from parents and teachers of children aged from 4 to 16 years (112 females, 95 males) on the UK North West Regional Genetic Service register for NF1. Results Parental response rate was 52.7% (109/207 children; 59 females, 50 males, mean age 9y 11mo, SD 3y 3mo). The SRS showed that in 29.4% (32/109) of children, autism was in the severe, clinical range (T-score>75) and in 26.6% (29/109) in the mild to moderate range (T-score 60-75). CPRS-R scores showed that in 53.8% (57/106) of children autism was in the clinical ADHD range (ADHD index T-score>65). Based on their scores on the SDQ total difficulties scale, 41.5% (44/106) of children were in the abnormal range and 14.2% (15/106) were in the borderline range. Twenty-five per cent (26/104) of children met criteria for both clinical autism and ADHD. Interpretation This representative population-based sample of children with NF1 indicates a high prevalence of ASD symptoms associated with NF1 as well as substantial co-occurrence with ADHD symptoms. The findings clarify the psychopathology of NF1 and show the disorder as a potentially important single-gene cause for autism symptoms.

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27. Georgiades S, Szatmari P, Boyle M, Hanna S, Duku E, Zwaigenbaum L, Bryson S, Fombonne E, Volden J, Mirenda P, Smith I, Roberts W, Vaillancourt T, Waddell C, Bennett T, Thompson A. {{Investigating phenotypic heterogeneity in children with autism spectrum disorder: a factor mixture modeling approach}}. {J Child Psychol Psychiatry};2013 (Feb);54(2):206-215.

Background: Autism spectrum disorder (ASD) is characterized by notable phenotypic heterogeneity, which is often viewed as an obstacle to the study of its etiology, diagnosis, treatment, and prognosis. On the basis of empirical evidence, instead of three binary categories, the upcoming edition of the DSM 5 will use two dimensions – social communication deficits (SCD) and fixated interests and repetitive behaviors (FIRB) – for the ASD diagnostic criteria. Building on this proposed DSM 5 model, it would be useful to consider whether empirical data on the SCD and FIRB dimensions can be used within the novel methodological framework of Factor Mixture Modeling (FMM) to stratify children with ASD into more homogeneous subgroups. Methods: The study sample consisted of 391 newly diagnosed children (mean age 38.3 months; 330 males) with ASD. To derive subgroups, data from the Autism Diagnostic Interview-Revised indexing SCD and FIRB were used in FMM; FMM allows the examination of continuous dimensions and latent classes (i.e., categories) using both factor analysis (FA) and latent class analysis (LCA) as part of a single analytic framework. Results: Competing LCA, FA, and FMM models were fit to the data. On the basis of a set of goodness-of-fit criteria, a ‘two-factor/three-class’ factor mixture model provided the overall best fit to the data. This model describes ASD using three subgroups/classes (Class 1: 34%, Class 2: 10%, Class 3: 56% of the sample) based on differential severity gradients on the SCD and FIRB symptom dimensions. In addition to having different symptom severity levels, children from these subgroups were diagnosed at different ages and were functioning at different adaptive, language, and cognitive levels. Conclusions: Study findings suggest that the two symptom dimensions of SCD and FIRB proposed for the DSM 5 can be used in FMM to stratify children with ASD empirically into three relatively homogeneous subgroups.

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28. Gomez-Duran EL, Martin-Fumado C, Litvan L, Campillo M, Taylor PJ. {{Matricide by failure to act in autism}}. {J Autism Dev Disord};2013 (Feb);43(2):495-497.

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29. Gowen E, Hamilton A. {{Motor abilities in autism: a review using a computational context}}. {J Autism Dev Disord};2013 (Feb);43(2):323-344.

Altered motor behaviour is commonly reported in Autism Spectrum Disorder, but the aetiology remains unclear. Here, we have taken a computational approach in order to break down motor control into different components and review the functioning of each process. Our findings suggest abnormalities in two areas-poor integration of information for efficient motor planning, and increased variability in basic sensory inputs and motor outputs. In contrast, motor learning processes are relatively intact and there is inconsistent evidence for deficits in predictive control. We suggest future work on motor abilities in autism should focus on sensorimotor noise and on higher level motor planning, as these seem to have a significant role in causing motor difficulties for autistic individuals.

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30. Hagerman RJ. {{Epilepsy drives autism in neurodevelopmental disorders}}. {Dev Med Child Neurol};2013 (Feb);55(2):101-102.

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31. Honda H. {{How can epidemiological studies contribute to understanding autism spectrum disorders?}}. {Brain Dev};2013 (Feb);35(2):102-105.

More and more studies on the frequency of autism spectrum disorders (ASD) have been published recently, most of which show the increase in prevalence data. In this review, the author pointed out factors and parameters to be considered in analyzing frequency data, i.e., the enlargement of the concept of autism, prevalence and incidence, accuracy and precision in the initial screening, and the effect of the « vaccine debate ». The proportion of high-functioning ASD has been growing higher and higher due to better recognition in the last few years, and the apparent increase might still be the tip of an iceberg. Future epidemiological studies should include themes on diversity of the longitudinal course and re-conceptualization of ASD by dimensional diagnosis.

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32. Hua X, Thompson PM, Leow AD, Madsen SK, Caplan R, Alger JR, O’Neill J, Joshi K, Smalley SL, Toga AW, Levitt JG. {{Brain growth rate abnormalities visualized in adolescents with autism}}. {Hum Brain Mapp};2013 (Feb);34(2):425-436.

Autism spectrum disorder is a heterogeneous disorder of brain development with wide ranging cognitive deficits. Typically diagnosed before age 3, autism spectrum disorder is behaviorally defined but patients are thought to have protracted alterations in brain maturation. With longitudinal magnetic resonance imaging (MRI), we mapped an anomalous developmental trajectory of the brains of autistic compared with those of typically developing children and adolescents. Using tensor-based morphometry, we created 3D maps visualizing regional tissue growth rates based on longitudinal brain MRI scans of 13 autistic and seven typically developing boys (mean age/interscan interval: autism 12.0 +/- 2.3 years/2.9 +/- 0.9 years; control 12.3 +/- 2.4/2.8 +/- 0.8). The typically developing boys demonstrated strong whole brain white matter growth during this period, but the autistic boys showed abnormally slowed white matter development (P = 0.03, corrected), especially in the parietal (P = 0.008), temporal (P = 0.03), and occipital lobes (P = 0.02). We also visualized abnormal overgrowth in autism in gray matter structures such as the putamen and anterior cingulate cortex. Our findings reveal aberrant growth rates in brain regions implicated in social impairment, communication deficits and repetitive behaviors in autism, suggesting that growth rate abnormalities persist into adolescence. Tensor-based morphometry revealed persisting growth rate anomalies long after diagnosis, which has implications for evaluation of therapeutic effects. Hum Brain Mapp, 2013. (c) 2011 Wiley Periodicals, Inc.

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33. Hus V, Lord C. {{Effects of Child Characteristics on the Autism Diagnostic Interview-Revised: Implications for Use of Scores as a Measure of ASD Severity}}. {J Autism Dev Disord};2013 (Feb);43(2):371-381.

The Autism Diagnostic Interview-Revised (ADI-R) is commonly used to inform diagnoses of autism spectrum disorders (ASD). Considering the time dedicated to using the ADI-R, it is of interest to expand the ways in which information obtained from this interview is used. The current study examines how algorithm totals reflecting past (ADI-Diagnostic) and current (ADI-Current) behaviors are influenced by child characteristics, such as demographics, behavioral problems and developmental level. Children with less language at the time of the interview had higher ADI-Diagnostic and ADI-Current. ADI-Diagnostic totals were also associated with age; parents of older children reported more severe past behaviors. Recommendations are provided regarding the use of the ADI-R as a measure of ASD severity, taking language and age into account.

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34. Jones KL, Will MJ, Hecht PM, Parker CL, Beversdorf DQ. {{Maternal diet rich in omega-6 polyunsaturated fatty acids during gestation and lactation produces autistic-like sociability deficits in adult offspring}}. {Behav Brain Res};2013 (Feb 1);238:193-199.

Multiple studies have reported prenatal stress as a potential risk factor for the development of autism spectrum disorder (ASD). In rodents, a significant reduction in sociability is seen in prenatally stressed offspring of genetically stress-susceptible dams. Certain dietary factors that contribute to stress reactivity may, therefore, exacerbate prenatal stress-mediated behavioral changes in adult offspring. Adults with a diet rich in omega-6 polyunsaturated fatty acids (PUFAs) display increased stress reactivity. In the current study, the effects of prenatal diet and prenatal stress on social behavior in adult offspring mice were examined. Pregnant C57BL/6J dams received either chronic variable stress or no stress, and were also placed on a control diet or a diet rich in omega-6 PUFAs, in a 2×2 design. We subsequently tested the adult offspring for sociability, anxiety, and locomotor behaviors using a 3-chambered social approach task, an elevated-plus maze, an open field task and a rotarod task. Results indicated that a maternal diet rich in omega-6 PUFAs during gestation and lactation produce changes in sociability consistent with those observed in ASD. Additionally, offspring exposed to a diet rich in omega-6 PUFAs during gestation and lactation had increased levels of anxiety in the elevated-plus maze. Prenatal stress had no effect on offspring behavior. These findings provide evidence for a possible environmental risk factor that contributes to the production of autistic-like behavior in mice.

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35. Kaga M. {{Exploring autism research collaboration between Japan and United States Joint Academic Conference on Autism Spectrum Disorders, December, 2011}}. {Brain Dev};2013 (Feb);35(2):95.

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36. Kang S, O’Reilly M, Rojeski L, Blenden K, Xu Z, Davis T, Sigafoos J, Lancioni G. {{Effects of tangible and social reinforcers on skill acquisition, stereotyped behavior, and task engagement in three children with autism spectrum disorders}}. {Res Dev Disabil};2013 (Feb);34(2):739-744.

Children with autism spectrum disorders (ASDs) are more likely to engage in inappropriate play (e.g., stereotypy, repetitive behavior) with their preferred items given as reinforcers. Considering the stereotyped behavior is a core characteristic of ASD aimed to reduce, it is necessary to identify alternative reinforcers that does not encourage problematic behavior as well as is still effective. In this respect, the present study evaluates a possible alternative reinforcer: social interaction. The study compared the effects of preferred tangible and social reinforcers on skill acquisition, stereotyped behavior, and task engagement during the instruction period in three children, 3-8 years of age, with ASDs. This study had two phases: in the first phase, preference assessments and reinforcer assessments were conducted to identify the most highly preferred items and relative preferred type of reinforcers. In the second phase, teachers taught the target skills using two different reinforcers and the three dependent variables were compared between two reinforcer conditions. The results suggest that the reinforcers were equally effective; however tangible reinforcers resulted in high levels of stereotyped behavior. The results indicate that social reinforcers can be efficient reinforcers for the population. The study discussed making an efficient reinforcement decision for individuals with ASD.

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37. Kataoka S, Takuma K, Hara Y, Maeda Y, Ago Y, Matsuda T. {{Autism-like behaviours with transient histone hyperacetylation in mice treated prenatally with valproic acid}}. {Int J Neuropsychopharmacol};2013 (Feb);16(1):91-103.

Maternal use of valproic acid (VPA) during pregnancy has been implicated in the aetiology of autism spectrum disorders in children, and rodents prenatally exposed to VPA showed behavioural alterations similar to those observed in humans with autism. However, the exact mechanism for VPA-induced behavioural alterations is not known. To study this point, we examined the effects of prenatal exposure to VPA and valpromide, a VPA analog lacking histone deacetylase inhibition activity, on behaviours, cortical pathology and histone acetylation levels in mice. Mice exposed to VPA at embryonic day 12.5 (E12.5), but not at E9 and E14.5, displayed social interaction deficits, anxiety-like behaviour and memory deficits at age 4-8 wk. In contrast to male mice, the social interaction deficits (a decrease in sniffing behaviour) were not observed in female mice at age 8 wk. The exposure to VPA at E12.5 decreased the number of Nissl-positive cells in the middle and lower layers of the prefrontal cortex and in the lower layers of the somatosensory cortex at age 8 wk. Furthermore, VPA exposure caused a transient increase in acetylated histone levels in the embryonic brain, followed by an increase in apoptotic cell death in the neocortex and a decrease in cell proliferation in the ganglionic eminence. In contrast, prenatal exposure to valpromide at E12.5 did not affect the behavioural, biochemical and histological parameters. Furthermore, these findings suggest that VPA-induced histone hyperacetylation plays a key role in cortical pathology and abnormal autism-like behaviours in mice.

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38. Khanna R, Jariwala K, West-Strum D. {{Use and cost of psychotropic drugs among recipients with autism in a state Medicaid fee-for-service programme}}. {J Intellect Disabil Res};2013 (Feb);57(2):161-171.

Background There has been a significant increase in the prevalence of autism in the USA in the past few decades. The purpose of this study was to provide recent estimates of psychotropic drug use and costs among individuals with autism enrolled in Medicaid programme. Method A cross-sectional analysis of 2007 Mississippi (MS) Medicaid fee-for-service (FFS) programme administrative-claims data was performed. Study sample included recipients (<65 years) who had a medical services claim with a diagnosis of autism in 2007. Psychotropic drug patterns of use and costs were studied. Factors predicting the use of psychotropic drugs were identified using logistic regression analyses. Average number and cost of psychotropic drug claims per recipient were reported. Costs were reported from the perspective of MS Medicaid. Results In 2007, there were 1330 recipients with a diagnosis of autism in MS Medicaid FFS programme. Among these recipients, 66.32% had a claim for psychotropic drug during the year. Roughly 39% of recipients with autism had a claim for antipsychotics, 31.58% for stimulants, 19.55% for antidepressants, 19.40% for other psychotropics and 14.81% for anxiolytics/hypnotics/sedatives. Results from regression analyses highlighted variation in psychotropic drug use by demographic and co-morbid factors. There were a total of 12 618 claims for psychotropic drugs filled by recipients with autism in 2007, at an average of 14 (+/-12) claims per recipient. The total cost of these claims paid for by MS Medicaid FFS programme was approximately $2 million. Antipsychotics accounted for more than half ( approximately 58%) of the total costs, and had the highest average cost per claim ($291 +/- 205). Conclusions The results of this study indicate a high use of psychotropic drugs among individuals with autism enrolled in a state Medicaid programme. There is an urgent need to study the risk-benefit profile of these drugs in this growing population. Psychotropic drug use was found to vary by demographic and co-morbid factors. Among the different classes of psychotropic drugs, antipsychotics were the most commonly used and had the highest cost per claim.

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39. Kliemann K. {{Commentary on « Long-term Cognitive and Behavioral Therapies, Combined with Augmentative Communication are Related to Uncinate Fasciculus Integrity in Autism » Pardini, M., Elia, M., Garaci, R., Guida, S., Coniglione, F., Krueger, F., Benassi, F., & Gialloreti, E. (2011)}}. {J Autism Dev Disord};2013 (Feb);43(2):491-492.

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40. Laugeson EA. {{Review: social skills groups may improve social competence in children and adolescents with autism spectrum disorder}}. {Evid Based Ment Health};2013 (Feb);16(1):11.

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41. Leavey A, Zwaigenbaum L, Heavner K, Burstyn I. {{Gestational age at birth and risk of autism spectrum disorders in alberta, Canada}}. {J Pediatr};2013 (Feb);162(2):361-368.

OBJECTIVE: To examine the association between autism spectrum disorders (ASD) and each completed week of gestation using a graphical method of presenting results at all possible categorizations of gestational age (GA). STUDY DESIGN: The risk of ASD in a total of 218 110 singleton live births with complete data from Alberta, Canada between 1998 and 2004 was examined through linkage to health insurance records. The relative risk of developing ASD according to the 21 dichotomizations of shorter gestation (GA </=23 weeks vs >23 weeks to </=43 weeks vs >43 weeks, in 1-week increments) was calculated using log-binomial regression and adjusted for fetal sex, socioeconomic status, and birth year. RESULTS: We observed a gradual increased risk of ASD with shorter gestation. Cutoffs only between 29 and 40 weeks clearly denoted an elevated risk of developing ASD compared with longer gestation, and the risk increased with earlier GA cutoff. The results were not affected by sex or measures of fetal growth. CONCLUSION: Our data confirm the role of shortened gestation in ASD risk. We warn against the use of prespecified or a data-driven GA cutoff, however; instead, we recommend systematically examining all plausible cutoffs for GA to avoid overstating the homogeneity of risk in children on either side of a given cutoff, as well as to increase the comparability of studies.

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42. Lee AR, Hong SW, Ju SJ. {{[Development of a scale to measure life transition process in parents of children with autism]}}. {J Korean Acad Nurs};2012 (Dec);42(6):861-869.

PURPOSE: The purpose of this research was to develop a scale to measure the life transition process of parents of children with autism, against the backdrop of a lack of research on this topic. METHODS: Seventy preliminary items were drawn from previous qualitative research, and content validity was tested by three professors as well as three parents of children with autism. A questionnaire survey was also done between August 2011 and February 2012. Data were collected from 207 parents of children with autism and analyzed using descriptive statistics, item analysis, Cronbach’s alpha, Pearson correlation coefficients, and factor analysis with the SPSS Win 15.0 program. RESULTS: Twenty-nine items were selected to constitute the appropriate measuring scale and categorized into 5 factors explaining 63.2% of the total variance. The 5 factors were named; stages of denial (5 items), wandering (6 items), devotion (7 items), frustration (3 items), and finally acceptance (8 items). Cronbach’s alpha for the 29 items was .80. CONCLUSION: The results of this study not only suggest assessment criteria for the life transition process of parents who have children with autism but also provide basic directions for program development to provide differentiated support and care at each stage.

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43. Lim F, Downs J, Li J, Bao XH, Leonard H. {{Caring for a child with severe intellectual disability in China: The example of Rett syndrome}}. {Disabil Rehabil};2013 (Feb);35(4):343-351.

Purpose: Rett syndrome is one of several genetic disorders known to cause severe intellectual and physical disability, mostly in girls. Girls affected by Rett syndrome appear to develop normally in the first 6 months of life, after which the usual clinical presentation comprises regression of communication and hand skills, the appearance of hand stereotypies and impaired gait. Intellectual disability affects more than 1.5% of the population of children in developing countries yet we know little about the daily lives and support services available for them and their caregivers. Method: This qualitative study explored the daily experiences of 14 mothers and one grandmother caring for a child with Rett syndrome in China via telephone interviews. Results: Participants reported a lack of education, rehabilitation and support services available to them. Limited access to information reduced families’ capacity to adequately meet the needs of their child. These gaps were further exacerbated by discrimination and perceived stigma from some members of the community. Conclusions: Additional support services and educational programs at the governmental level can improve the quality of life of persons with an intellectual disability and their families and programs involving community participation in the care of people with disabilities may help to address discrimination. [Box: see text].

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44. Lu AT, Yoon J, Geschwind DH, Cantor RM. {{QTL replication and targeted association highlight the nerve growth factor gene for nonverbal communication deficits in autism spectrum disorders}}. {Mol Psychiatry};2013 (Feb);18(2):226-235.

Autism Spectrum Disorder (ASD) has a heterogeneous etiology that is genetically complex. It is defined by deficits in communication and social skills and the presence of restricted and repetitive behaviors. Genetic analyses of heritable quantitative traits that correlate with ASD may reduce heterogeneity. With this in mind, deficits in nonverbal communication (NVC) were quantified based on items from the Autism Diagnostic Interview Revised. Our previous analysis of 228 families from the Autism Genetics Research Exchange (AGRE) repository reported 5 potential quantitative trait loci (QTL). Here we report an NVC QTL replication study in an independent sample of 213 AGRE families. One QTL was replicated (P<0.0004). It was investigated using a targeted-association analysis of 476 haplotype blocks with 708 AGRE families using the Family Based Association Test (FBAT). Blocks in two QTL genes were associated with NVC with a P-value of 0.001. Three associated haplotype blocks were intronic to the Nerve Growth Factor (NGF) gene (P=0.001, 0.001, 0.002), and one was intronic to KCND3 (P=0.001). Individual haplotypes within the associated blocks drove the associations (0.003, 0.0004 and 0.0002) for NGF and 0.0001 for KCND3. Using the same methods, these genes were tested for association with NVC in an independent sample of 1517 families from an Autism Genome Project (AGP). NVC was associated with a haplotype in an adjacent NGF block (P=0.0005) and one 46 kb away from the associated block in KCND3 (0.008). These analyses illustrate the value of QTL and targeted association studies for genetically complex disorders such as ASD. NGF is a promising risk gene for NVC deficits.

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45. Lugnegard T, Unenge Hallerback M, Hjarthag F, Gillberg C. {{Social cognition impairments in Asperger syndrome and schizophrenia}}. {Schizophr Res};2013 (Feb);143(2-3):277-284.

Social cognition impairments are well described in both autism spectrum disorders, including Asperger syndrome (AS), and in schizophrenia spectrum disorders. However, little is known about whether there are differences between the two groups of disorders regarding this ability. The aim of this study was to compare social cognition abilities in AS and schizophrenia. Fifty-three individuals (26 men, 27 women) with a clinical diagnosis of AS, 36 (22 men, 14 women) with a clinical diagnosis of schizophrenic psychosis, and 50 non-clinical controls (19 men, 31 women) participated in the study. Clinical diagnoses were confirmed either by Structured Clinical Interview on DSM-IV diagnosis or the Diagnostic Interview for Social and Communication Disorders. Verbal ability was assessed using the Vocabulary subtest of the WAIS-III. Two social cognition instruments were used: Reading the Mind in the Eyes Test (Eyes Test) and the Animations Task. On the Eyes Test, patients with schizophrenia showed poorer results compared to non-clinical controls; however, no other group differences were seen. Both clinical groups scored significantly lower than the comparison group on the Animations Task. The AS group performed somewhat better than the schizophrenia group. Some differences were accounted for by gender effects. Implicit social cognition impairments appear to be at least as severe in schizophrenia as they are in AS. Possible gender differences have to be taken into account in future research on this topic.

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46. Miyajima T, Kumada T, Saito K, Fujii T. {{Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy}}. {Brain Dev};2013 (Feb);35(2):155-157.

In 1999, Hirose et al. reported a Japanese family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) associated with a neuronal nicotinic acetylcholine receptor alpha4 subunit mutation (S252L). We followed the siblings of this family, and found that the elder brother had Asperger’s disorder without mental retardation (MR) and the younger brother had autistic disorder with profound MR. The clinical epileptic features of the siblings were very similar, and both had deficits in socialization, but their cognitive development differed markedly. It thus seems that epilepsy is the direct phenotype of the S252L mutation, whereas other various factors modulate the cognitive and social development. No patients with ADNFLE have previously been reported to have autism spectrum disorder or profound MR.

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47. Mori K, Toda Y, Ito H, Mori T, Goji A, Fujii E, Miyazaki M, Harada M, Kagami S. {{A proton magnetic resonance spectroscopic study in autism spectrum disorders: Amygdala and orbito-frontal cortex}}. {Brain Dev};2013 (Feb);35(2):139-145.

We previously reported neural dysfunction in the anterior cingulate cortex and dorsolateral prefrontal cortex in autistic patients using proton magnetic resonance spectroscopy ((1)H-MRS). In this investigation, we measured chemical metabolites in the left amygdala and the bilateral orbito-frontal cortex (OFC), which are the main components of the social brain. We also examined the association between these metabolic findings and social abilities in subjects with autism. The study group included 77 autistic patients (3-6years old; mean age 4.1; 57 boys and 20 girls). The control subjects were 31 children (3-6years old; mean age 4.0; 23 boys and 8 girls). Conventional proton MR spectra were obtained using the STEAM sequence with parameters of TR=5 sec and TE=15 msec by a 1.5-tesla clinical MRI system. We analyzed the concentrations of N-acetylaspartate (NAA), creatine/phosphocreatine (Cr), and choline-containing compounds (Cho) using LCModel (Ver. 6.1). The concentrations of NAA in the left amygdala and the bilateral OFC in autistic patients were significantly decreased compared to those in the control group. In the autistic patients, the NAA concentrations in these regions correlated with their social quotient. These findings suggest the presence of neuronal dysfunction in the amygdala and OFC in autism. Dysfunction in the amygdala and OFC may contribute to the pathogenesis of autism.

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48. Mulle JG, Sharp WG, Cubells JF. {{The gut microbiome: a new frontier in autism research}}. {Curr Psychiatry Rep};2013 (Feb);15(2):337.

The human gut harbors a complex community of microbes that profoundly influence many aspects of growth and development, including development of the nervous system. Advances in high-throughput DNA sequencing methods have led to rapidly expanding knowledge about this gut microbiome. Here, we review fundamental emerging data on the human gut microbiome, with a focus on potential interactions between the microbiome and autism spectrum disorders (ASD) and consider research on atypical patterns of feeding and nutrition in ASD and how they might interact with the microbiome. Finally we selectively survey results from studies in rodents on the impact of the microbiome on neurobehavioral development. The evidence reviewed here suggests that a deeper understanding of the gut microbiome could open up new avenues of research on ASD, including potential novel treatment strategies.

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49. Murray MJ. {{Children of migrant parents may be at greater risk of low-functioning autism spectrum disorder, but lower risk of high-functioning autism spectrum disorder}}. {Evid Based Ment Health};2013 (Feb);16(1):24.

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50. Novogrodsky R. {{Subject pronoun use by children with autism spectrum disorders (ASD)}}. {Clin Linguist Phon};2013 (Feb);27(2):85-93.

In the current study, storytelling and story retelling by children with autism spectrum disorder (ASD) were analyzed to explore ambiguous third-person pronoun use in narratives. Twenty-three children diagnosed with ASD aged 6;1 to 14;3 and 17 typically-developing (TD) children aged 5;11 to 14;4 participated in the study. In the retelling task, no significant difference between the groups was found, suggesting that in less challenging tasks, children with ASD produce third-person subject pronouns appropriately. In the storytelling task, children with ASD produced more ambiguous third-person subject pronouns than did the TD children. The findings suggest a model in which children with ASD show deficits in the pragmatic domain of producing narratives.

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51. Orlandi S, Manfredi C, Bocchi L, Scattoni ML. {{Automatic newborn cry analysis: A Non-invasive tool to help autism early diagnosis}}. {Conf Proc IEEE Eng Med Biol Soc};2012 (Aug);2012:2953-2956.

Autism Spectrum Disorders (ASD) are complex developmental disabilities that cause problems with social interaction and communication. ASD are associated with motor development problems, more or less blurred, and with perceptual and sensory brain areas. Crying is the infant’s earliest form of communication and recent studies connect this original « language » form with autism disturbs. Being completely non-invasive, cry analysis is an appealing approach for early ASD diagnosis to improve rehabilitation. To this aim, we have developed an automatic system to record newborn cry and movements, during the first six months of life with a specific recording protocol. In this work we present first results of acoustic cry analysis in newborns classified as high-risk subjects being siblings of children already diagnosed as autistics. The work aims at finding possible early ASD signs in high-risk subjects as compared to a group of control subjects based on the fundamental frequency and the vocal tract resonance frequencies. Also, voiced and unvoiced parts of signal and cry-episodes duration are analyzed.

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52. Ozonoff S. {{Editorial: Recovery from autism spectrum disorder (ASD) and the science of hope}}. {J Child Psychol Psychiatry};2013 (Feb);54(2):113-114.

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53. Paul R, Campbell D, Gilbert K, Tsiouri I. {{Comparing spoken language treatments for minimally verbal preschoolers with autism spectrum disorders}}. {J Autism Dev Disord};2013 (Feb);43(2):418-431.

Preschoolers with severe autism and minimal speech were assigned either a discrete trial or a naturalistic language treatment, and parents of all participants also received parent responsiveness training. After 12 weeks, both groups showed comparable improvement in number of spoken words produced, on average. Approximately half the children in each group achieved benchmarks for the first stage of functional spoken language development, as defined by Tager-Flusberg et al. (J Speech Lang Hear Res, 52: 643-652, 2009). Analyses of moderators of treatment suggest that joint attention moderates response to both treatments, and children with better receptive language pre-treatment do better with the naturalistic method, while those with lower receptive language show better response to the discrete trial treatment. The implications of these findings are discussed.

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54. Payne JM. {{Autism spectrum disorder symptomatology in children with neurofibromatosis type 1}}. {Dev Med Child Neurol};2013 (Feb);55(2):100-101.

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55. Pecorelli A, Leoncini S, De Felice C, Signorini C, Cerrone C, Valacchi G, Ciccoli L, Hayek J. {{Non-protein-bound iron and 4-hydroxynonenal protein adducts in classic autism}}. {Brain Dev};2013 (Feb);35(2):146-154.

A link between oxidative stress and autism spectrum disorders (ASDs) remains controversial with opposing views on its role in the pathogenesis of the disease. We investigated for the first time the levels of non-protein-bound iron (NPBI), a pro-oxidant factor, and 4-hydroxynonenal protein adducts (4-HNE PAs), as a marker of lipid peroxidation-induced protein damage, in classic autism. Patients with classic autism (n=20, mean age 12.0+/-6.2years) and healthy controls (n=18, mean age 11.7+/-6.5years) were examined. Intraerythrocyte and plasma NPBI were measured by high performance liquid chromatography (HPLC), and 4-HNE PAs in erythrocyte membranes and plasma were detected by Western blotting. The antioxidant defences were evaluated as erythrocyte glutathione (GSH) levels using a spectrophotometric assay. Intraerythrocyte and plasma NPBI levels were significantly increased (1.98- and 3.56-folds) in autistic patients, as compared to controls (p=0.0019 and p<0.0001, respectively); likewise, 4-HNE PAs were significantly higher in erythrocyte membranes and in plasma (1.58- and 1.6-folds, respectively) from autistic patients than controls (p=0.0043 and p=0.0001, respectively). Erythrocyte GSH was slightly decreased (-10.34%) in patients compared to controls (p=0.0215). Our findings indicate an impairment of the redox status in classic autism patients, with a consequent imbalance between oxidative stress and antioxidant defences. Increased levels of NPBI could contribute to lipid peroxidation and, consequently, to increased plasma and erythrocyte membranes 4-HNE PAs thus amplifying the oxidative damage, potentially contributing to the autistic phenotype.

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56. Pfeifer JH, Merchant JS, Colich NL, Hernandez LM, Rudie JD, Dapretto M. {{Neural and behavioral responses during self-evaluative processes differ in youth with and without autism}}. {J Autism Dev Disord};2013 (Feb);43(2):272-285.

This fMRI study investigated neural responses while making appraisals of self and other, across the social and academic domains, in children and adolescents with and without autism spectrum disorders (ASD). Compared to neurotypical youth, those with ASD exhibited hypoactivation of ventromedial prefrontal cortex during self-appraisals. Responses in middle cingulate cortex (MCC) and anterior insula (AI) also distinguished between groups. Stronger activity in MCC and AI during self-appraisals was associated with better social functioning in the ASD group. Although self-appraisals were significantly more positive in the neurotypical group, positivity was unrelated to brain activity in these regions. Together, these results suggest that multiple brain regions support making self-appraisals in neurotypical development, and function atypically in youth with ASD.

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57. Ploog BO, Scharf A, Nelson D, Brooks PJ. {{Use of Computer-Assisted Technologies (CAT) to Enhance Social, Communicative, and Language Development in Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Feb);43(2):301-322.

Major advances in multimedia computer technology over the past decades have made sophisticated computer games readily available to the public. This, combined with the observation that most children, including those with autism spectrum disorders (ASD), show an affinity to computers, has led researchers to recognize the potential of computer technology as an effective and efficient tool in research and treatment. This paper reviews the use of computer-assisted technology (CAT), excluding strictly internet-based approaches, to enhance social, communicative, and language development in individuals with ASD by dividing the vast literature into four main areas: language, emotion recognition, theory of mind, and social skills. Although many studies illustrate the tremendous promise of CAT to enhance skills of individuals with ASD, most lack rigorous, scientific assessment of efficacy relative to non-CAT approaches.

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58. Potvin MC, Snider L, Prelock P, Kehayia E, Wood-Dauphinee S. {{Recreational participation of children with high functioning autism}}. {J Autism Dev Disord};2013 (Feb);43(2):445-457.

The recreation of children with High Functioning Autism (HFA) is not well understood. The objective of this cross-sectional study was to compare the recreational engagement of children with HFA and their typically developing peers. Children with HFA (n = 30) and peers (n = 31) were similar on key characteristics that may impact recreation except those related to the HFA attributes. Children with HFA differed from peers in terms of diversity (p = .002), social aspects (p = .006) and locations (p < .001) of recreation. The two groups were not statistically different in personal intensity (p = .684), enjoyment (p = .239) or preferences (p = .788) of recreation. A recreational profile was developed to benefit parents and clinicians in supporting the recreation of these children.

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59. Qiao Y, Tyson C, Hrynchak M, Lopez-Rangel E, Hildebrand J, Martell S, Fawcett C, Kasmara L, Calli K, Harvard C, Liu X, Holden J, Lewis S, Rajcan-Separovic E. {{Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability}}. {Clin Genet};2013 (Feb);83(2):145-154.

Qiao Y, Tyson C, Hrynchak M, Lopez-Rangel E, Hildebrand J, Martell S, Fawcett C, Kasmara L, Calli K, Harvard C, Liu X, Holden JJA, Lewis SME, Rajcan-Separovic E. Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability. Higher resolution whole-genome arrays facilitate the identification of smaller copy number variations (CNVs) and their integral genes contributing to autism and/or intellectual disability (ASD/ID). Our study describes the use of one of the highest resolution arrays, the Affymetrix((R)) Cytogenetics 2.7M array, coupled with quantitative multiplex polymerase chain reaction (PCR) of short fluorescent fragments (QMPSF) for detection and validation of small CNVs. We studied 82 subjects with ASD and ID in total (30 in the validation and 52 in the application cohort) and detected putatively pathogenic CNVs in 6/52 cases from the application cohort. This included a 130-kb maternal duplication spanning exons 64-79 of the DMD gene which was found in a 3-year-old boy manifesting autism and mild neuromotor delays. Other pathogenic CNVs involved 4p14, 12q24.31, 14q32.31, 15q13.2-13.3, and 17p13.3. We established the optimal experimental conditions which, when applied to select small CNVs for QMPSF confirmation, reduced the false positive rate from 60% to 25%. Our work suggests that selection of small CNVs based on the function of integral genes, followed by review of array experimental parameters resulting in highest confirmation rate using multiplex PCR, may enhance the usefulness of higher resolution platforms for ASD and ID gene discovery.

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60. Radulescu E, Ganeshan B, Minati L, Beacher FD, Gray MA, Chatwin C, Young RC, Harrison NA, Critchley HD. {{Gray matter textural heterogeneity as a potential in-vivo biomarker of fine structural abnormalities in Asperger syndrome}}. {Pharmacogenomics J};2013 (Feb);13(1):70-79.

Brain imaging studies contribute to the neurobiological understanding of Autism Spectrum Conditions (ASC). Herein, we tested the prediction that distributed neurodevelopmental abnormalities in brain development impact on the homogeneity of brain tissue measured using texture analysis (TA; a morphological method for surface pattern characterization). TA was applied to structural magnetic resonance brain scans of 54 adult participants (24 with Asperger syndrome (AS) and 30 controls). Measures of mean gray-level intensity, entropy and uniformity were extracted from gray matter images at fine, medium and coarse textures. Comparisons between AS and controls identified higher entropy and lower uniformity across textures in the AS group. Data reduction of texture parameters revealed three orthogonal principal components. These were used as regressors-of-interest in a voxel-based morphometry analysis that explored the relationship between surface texture variations and regional gray matter volume. Across the AS but not control group, measures of entropy and uniformity were related to the volume of the caudate nuclei, whereas mean gray-level was related to the size of the cerebellar vermis. Similar to neuropathological studies, our study provides evidence for distributed abnormalities in the structural integrity of gray matter in adults with ASC, in particular within corticostriatal and corticocerebellar networks. Additionally, this in-vivo technique may be more sensitive to fine microstructural organization than other more traditional magnetic resonance approaches and serves as a future testable biomarker in AS and other neurodevelopmental disorders.

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61. Rapela J, Lin TY, Westerfield M, Jung TP, Townsend J. {{Assisting autistic children with wireless EOG technology}}. {Conf Proc IEEE Eng Med Biol Soc};2012 (Aug);2012:3504-3506.

We propose a novel intervention to train the speed and accuracy of attention orienting and eye movements in Autism Spectrum Disorder (ASD). Training eye movements and attention could not only affect those important functions directly, but could also result in broader improvement of social communication skills. To this end we describe a system that would allow ASD children to improve their fixation skills while playing a computer game controlled by an eye tracker. Because this intervention will probably be time consuming, this system should be designed to be used at homes. To make this possible, we propose an implementation based on wireless and dry electrooculography (EOG) technology. If successful, this system would develop an approach to therapy that would improve clinical and behavioral function in children and adults with ASD. As our initial steps in this direction, here we describe the design of a computer game to be used in this system, and the predictions of gaze position from EOG data recorded while a subject played this game.

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62. Reed P, Osborne LA. {{The role of parenting stress in discrepancies between parent and teacher ratings of behavior problems in young children with autism spectrum disorder}}. {J Autism Dev Disord};2013 (Feb);43(2):471-477.

The study assessed whether teacher and parent ratings of child behavior problems were similar for children with autism spectrum disorders. Two informants rated child behaviors in the same home environment, and the degree to which parenting stress impacted the similarity of the ratings was assessed. Overall behavior problem ratings did not differ between groups, but there was poor correspondence between the ratings for individual children, stress did not impact markedly on the discrepancies. Parent-teacher discrepancies in behavior ratings cannot be attributed entirely to differences in the assessment-environment, and there was little evidence of widespread impacts of parenting stress on these discrepant ratings. It was suggested that attention is needed in terms of the teacher characteristics when explaining such results.

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63. Salcedo-Marin MD, Moreno-Granados JM, Ruiz-Veguilla M, Ferrin M. {{Evaluation of planning dysfunction in attention deficit hyperactivity disorder and autistic spectrum disorders using the zoo map task}}. {Child Psychiatry Hum Dev};2013 (Feb);44(1):166-185.

Attention-Deficit-Hyperactivity-Disorders (ADHD) and Autistic-Spectrum-Disorders (ASD) share overlapping clinical and cognitive features that may confuse the diagnosis. Evaluation of executive problems and planning dysfunction may aid the clinical diagnostic process and help disentangle the neurobiological process underlying these conditions. This study evaluates the planning function problems in 80 male children and adolescents diagnosed with ADHD and 23 male children and adolescents with ASD using the Zoo Map Task; both groups were comparable in terms of age and IQ. The relationship between planning function and other executive functions is also assessed. In comparison to the ADHD groups, ASD children presented more errors in the open-ended tasks; these planning function problems seem to be mediated by processing speed and motor coordination, however it does not seem to be mediated by other executive function problems, including attention, working memory or response inhibition. In the time for planning, an interaction between the specific subgroups and working memory components was observed. ADHD and ASD present with different patterns of planning function, even when other components of executive function are taken into account; clinical and educational implications are discussed.

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64. Schwartzman JS. {{The use of eye-gaze technology in girls with rett syndrome}}. {Pediatr Neurol};2013 (Feb);48(2):159.

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65. Senju A. {{Atypical development of spontaneous social cognition in autism spectrum disorders}}. {Brain Dev};2013 (Feb);35(2):96-101.

Individuals with autism spectrum disorders (ASD) have profound impairment in the development of social interaction and communication. However, it is also known that some ‘high-functioning’ individuals with ASD show apparently typical capacity to process social information in a controlled experimental settings, despite their difficulties in daily life. The current paper overviews the spontaneous social cognition, spontaneous processing of social information in the absence of explicit instruction or task demand, in individuals with ASD. Three areas of the researches, false belief attribution, imitation/mimicry, and eye gaze processing, have been reviewed. The literatures suggest that high-functioning individuals with ASD (a) do not spontaneously attribute false belief to others, even though they can easily do so when explicitly instructed, (b) can imitate others’ goal-directed actions under explicit instruction and show spontaneous mimicry of others’ actions when they attend to the action, but are less likely to show spontaneous mimicry without the task structure to navigate attention to others’ action and (c) can process others’ gaze direction and shift attention to others’ gaze directions, but fail to spontaneously attend to another person’s eyes in social and communicative context, and less likely to be prompted to respond in response to perceived eye contact. These results are consistent with the claim that individuals with ASD do not spontaneously attend to socially relevant information, even though they can easily process the same information when their attention is navigated towards it.

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66. Sharma JR, Arieff Z, Gameeldien H, Davids M, Kaur M, van der Merwe L. {{Association analysis of two single-nucleotide polymorphisms of the RELN gene with autism in the South african population}}. {Genet Test Mol Biomarkers};2013 (Feb);17(2):93-98.

Background: Autism (MIM209850) is a neurodevelopmental disorder characterized by a triad of impairments, namely impairment in social interaction, impaired communication skills, and restrictive and repetitive behavior. A number of family and twin studies have demonstrated that genetic factors play a pivotal role in the etiology of autistic disorder. Various reports of reduced levels of reelin protein in the brain and plasma in autistic patients highlighted the role of the reelin gene (RELN) in autism. There is no such published study on the South African (SA) population. Aims: The aim of the present study was to find the genetic association of intronic rs736707 and exonic rs362691 (single-nucleotide polymorphisms [SNPs] of the RELN gene) with autism in a SA population. Methods: Genomic DNA was isolated from cheek cell swabs from autistic (136) as well as control (208) subjects. The TaqMan((R)) Real-Time polymerase chain reaction and genotyping assay was utilized to determine the genotypes. Results: A significant association of SNP rs736707, but not for SNP rs362691, with autism in the SA population is observed. Conclusion: There might be a possible role of RELN in autism, especially for SA populations. The present study represents the first report on genetic association studies on the RELN gene in the SA population.

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67. Sharp WG, Berry RC, McCracken C, Nuhu NN, Marvel E, Saulnier CA, Klin A, Jones W, Jaquess DL. {{Feeding Problems and Nutrient Intake in Children with Autism Spectrum Disorders: A Meta-analysis and Comprehensive Review of the Literature}}. {J Autism Dev Disord};2013 (Feb 1)

We conducted a comprehensive review and meta-analysis of research regarding feeding problems and nutrient status among children with autism spectrum disorders (ASD). The systematic search yielded 17 prospective studies involving a comparison group. Using rigorous meta-analysis techniques, we calculated the standardized mean difference (SMD) with standard error and corresponding odds ratio (OR) with 95 % confidence intervals (CI). Results indicated children with ASD experienced significantly more feeding problems versus peers, with an overall SMD of 0.89 (0.08) and a corresponding OR of 5.11, 95 % CI 3.74-6.97. Nutrient analyses indicated significantly lower intake of calcium (SMD: -0.65 [0.29]; OR: 0.31, 95 % CI 0.11-0.85) and protein (SMD: -0.58 [0.25]; OR: 0.35, 95 % CI: 0.14-0.56) in ASD. Future research must address critical questions regarding the cause, long-term impact, and remediation of atypical feeding in this population.

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68. Simonoff E, Jones CR, Baird G, Pickles A, Happe F, Charman T. {{The persistence and stability of psychiatric problems in adolescents with autism spectrum disorders}}. {J Child Psychol Psychiatry};2013 (Feb);54(2):186-194.

Background: Psychiatric problems are common in autism spectrum disorders (ASDs), but the reasons are poorly understood. We use a longitudinal population-representative cohort to examine for the first time the persistence of psychiatric problems and to identify risk factors for their occurrence and stability. Methods: Eighty-one 16-year olds (75 male, six female), initially seen at 12 years, were re-assessed using the parent-report Strengths and Difficulties Questionnaire (SDQ). Child, family and contextual characteristics from age 12 were tested as risk factors for psychopathology. Results: Prevalence rates varied depending on whether general population or ASD-specific SDQ cut-offs were used. While the former suggested a decrease in psychiatric problems over time, the ASD-specific cut-offs showed no significant differences. With the exception of ADHD, the ASD-specific cut-offs identified a smaller proportion of individuals as ‘affected’ than did the general population cut-offs. There was longitudinal domain specificity, with parent correlations ranging from 0.50 to 0.58 and teacher SDQ reports at age 12 correlating 0.33-0.53 with parent reports at 16 years. In examining the role of risk factors, lower IQ and adaptive functioning predicted higher hyperactivity and total difficulties scores. Greater emotional problems at 16 were predicted by poorer maternal mental health, family-based deprivation and lower social class. Improvement from 12 to 16 years in conduct problems was predicted by greater neighbourhood deprivation and special school attendance. Conclusions: This is the first longitudinal study of other psychiatric symptoms in ASD. Additional psychiatric problems in ASD are persistent and domain-specific from childhood to adolescence. The finding that age-related reduction in SDQ symptoms does not apply when ASD-specific cut-offs are used requires further evaluation using diagnostic measures. Only a few of the expected risk factor-psychopathology predictions expected from general population studies were found, raising the possibility that the causes of psychopathology in ASD differ from those in the general population.

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69. Stewart SL, Baiden P, Theall-Honey L. {{Factors associated with the use of intrusive measures at a tertiary care facility for children and youth with mental health and developmental disabilities}}. {Int J Ment Health Nurs};2013 (Feb);22(1):56-68.

This study seeks to identify some of the explanatory factors associated with the use of intrusive measures among children with mental health and developmental disabilities in psychiatric facilities. Intrusive intervention data were collected using an organizational database that was developed internally at a tertiary care facility. The sample was composed of 338 children/youth aged between 6 and 18 years (mean = 12.33, standard deviation = 2.70) admitted within a 2-year period. Logistic regression was used to examine the relationship between chemical restraint, physical restraint and secure isolation, and programme type after controlling for demographic and other relevant client characteristics. The study found that the number of chemical restraints and secure isolations was higher for clients with developmental disabilities than for clients with mental health, whereas the number of physical restraints was lower for clients with developmental disabilities than clients with mental health issues. Demographic variables also predicted specific types of intrusive measures. The results of this study outline the differential factors associated with specific types of intrusive measures to control aggressive and self-harm behaviours. The paper also outlines cultural change initiatives, organizational interventions, and policy implications for best practice services for children/youth in psychiatric facilities to further reduce intrusive measures.

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70. Storch EA, Arnold EB, Lewin AB, Nadeau JM, Jones AM, De Nadai AS, Jane Mutch P, Selles RR, Ung D, Murphy TK. {{The effect of cognitive-behavioral therapy versus treatment as usual for anxiety in children with autism spectrum disorders: a randomized, controlled trial}}. {J Am Acad Child Adolesc Psychiatry};2013 (Feb);52(2):132-142 e132.

OBJECTIVE: To examine the efficacy of a modular cognitive-behavioral therapy (CBT) protocol relative to treatment as usual (TAU) among children with high-functioning autism spectrum disorders (ASD) and clinically significant anxiety. METHOD: A total of 45 children (7-11 years of age) with high-functioning ASD and clinically significant anxiety were randomized to receive 16 sessions of weekly CBT or TAU for an equivalent duration. After screening, assessments were conducted at baseline, post-treatment, and 3-month follow-up. Raters were blind to treatment condition. RESULTS: Youth receiving CBT showed substantial improvement relative to TAU on primary anxiety outcomes. Of 24 children randomized to the CBT arm, 18 (75%) were treatment responders, versus only 3 of 21 children (14%) in the TAU arm. Gains were generally maintained at 3-month follow-up for CBT responders. CONCLUSIONS: Relative to usual care, CBT adapted for anxious youth with high-functioning ASD demonstrates large effects in reducing anxiety symptoms. This study contributes to the growing literature supporting adapted CBT approaches for treating anxiety in youth with ASD. Clinical trial registration information-Cognitive-Behavioral Treatment for Anxiety Disorders in Children With Autism Spectrum Disorders; http://clinicaltrials.gov; NCT01178385.

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71. Strid K, Heimann M, Tjus T. {{Pretend play, deferred imitation and parent-child interaction in speaking and non-speaking children with autism}}. {Scand J Psychol};2013 (Feb);54(1):26-32.

Strid, K., Heimann, M. & Tjus T. (2013). Pretend play, deferred imitation and parent-child interaction in speaking and non-speaking children with autism. Scandinavian Journal of Psychology 54, 26-32. This study investigates spontaneous pretend play during a parent-child free play observation, and deferred imitation observed in an experimental setting in speaking and non-speaking children with autism in comparison to children with typical development. Both groups of children with autism showed a reduced level of deferred imitation compared to the typically developing group, but only the non-speaking children with autism spent significantly less time in pretend play compared to children with typical development. Deferred imitation was related to parents’ verbal interaction in both groups. An analysis of the parent-child interaction revealed that parents of children with autism used less synchronized comments compared to parents of typically developing children. Parents of the speaking group with autism used more synchronized than unsynchronized comments, while parents of the non-speaking group used the same amount of synchronized and unsynchronized comments. These findings are discussed in terms of how the developmental level affects behavior and interaction in autism.

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72. Tchaconas A, Adesman A. {{Autism spectrum disorders: a pediatric overview and update}}. {Curr Opin Pediatr};2013 (Feb);25(1):130-144.

PURPOSE OF REVIEW: To provide an updated overview of autism spectrum disorders (ASDs), with particular attention to the pediatrician’s role in assessing and managing patients with ASDs. RECENT FINDINGS: Clinical perspectives on ASDs continue to evolve. The prevalence of ASDs in the United States continues to rise, and pediatricians are being tasked with the responsibility for universal screening. Further changes in its epidemiology will undoubtedly result from anticipated changes in the diagnostic criteria put forth in the upcoming revision to the Diagnostic and Statistical Manual (5th edition). Although there have been considerable advances in identifying a genetic cause in many more cases, the cause remains elusive in most cases. Recent studies of concordant twins suggest there is a stronger environmental component than previously believed. Research suggests earlier diagnosis may be feasible in some cases, and a new treatment approach has been shown to be effective in very young children. Although there have not been any large-scale advances in the medical treatment, some isolated successes have been reported and other promising therapies are now being investigated. SUMMARY: Clinical guidelines for ASDs are evolving, with updated diagnostic criteria expected and revised recommendations for evaluation also imminent. This article provides pediatricians with a clinical overview of ASD – with an emphasis on the clinical considerations relating to screening, evaluation, and management.

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73. Telias M, Segal M, Ben-Yosef D. {{Neural differentiation of fragile X human embryonic stem cells reveals abnormal patterns of development despite successful neurogenesis}}. {Dev Biol};2013 (Feb 1);374(1):32-45.

Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability, caused by developmentally regulated inactivation of FMR1, leading to the absence of its encoded protein FMRP. We have previously shown that undifferentiated Fragile X human Embryonic Stem Cells (FX-hESCs) express FMRP, despite the presence of the full FMR1 mutation (>200 CGG repeats). We describe here, for the first time, in-vitro differentiation of FX-hESCs into neurons progressively inactivating FMR1. Abnormal neurogenesis and aberrant gene expression were found already during early stages of differentiation, leading to poor neuronal maturation and high gliogenic development. Human FX neurons fired action potentials but displayed poor spontaneous synaptic activity and lacked reactivity to glutamate. Our dynamic FX-hESCs model can contribute to the understanding of the sequence of developmental events taking place during neurogenesis and how they are altered in FXS individuals, leading to intellectual disability. Furthermore, it may shed light over the striking phenotypic features characterizing FXS in human.

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74. Tonnsen BL, Malone PS, Hatton DD, Roberts JE. {{Early Negative Affect Predicts Anxiety, not Autism, in Preschool Boys with Fragile X Syndrome}}. {J Abnorm Child Psychol};2013 (Feb);41(2):267-280.

Children with fragile X syndrome (FXS) face high risk for anxiety disorders, yet no studies have explored FXS as a high-risk sample for investigating early manifestations of anxiety outcomes. Negative affect is one of the most salient predictors of problem behaviors and has been associated with both anxiety and autistic outcomes in clinical and non-clinical pediatric samples. In light of the high comorbidity between autism and anxiety within FXS, the present study investigates the relationship between longitudinal trajectories of negative affect (between 8 and 71 months) and severity of anxiety and autistic outcomes in young males with FXS (n = 25). Multilevel models indicated associations between elevated anxiety and higher fear and sadness, lower soothability, and steeper longitudinal increases in approach. Autistic outcomes were unrelated to negative affect. These findings suggest early negative affect differentially predicts anxiety, not autistic symptoms, within FXS. Future research is warranted to determine the specificity of the relationship between negative affect and anxiety, as well as to explore potential moderators. Characterizing the relationship between early negative affect and anxiety within FXS may inform etiology and treatment considerations specific to children with FXS, as well as lend insight into precursors of anxiety disorders in other clinical groups and community samples.

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75. Treasure J. {{Coherence and other autistic spectrum traits and eating disorders: Building from mechanism to treatment. The Birgit Olsson lecture}}. {Nord J Psychiatry};2013 (Feb);67(1):38-42.

Abstract Treasure J. Coherence and other autistic spectrum traits and eating disorders: Building from mechanism to treatment. The Birgit Olsson lecture. Nord J Psychiatry 2012; Early Online:1-5. Aim: To revisit Gillberg’s hypothesis proposed in 1992, which was that anorexia nervosa should be considered within the spectrum of autistic disorders. Method: A search was made of the literature relating to the behavioural traits, and cognitive, emotional and neuroanatomical intermediate phenotypes that are shared between autistic spectrum disorders (ASD) and anorexia nervosa. Results: People with eating disorders in the acute phase (less so after recovery) share some behavioural traits (social impairment and restricted and repetitive behaviours) and intermediate phenotypes (weak central coherence, and impaired set shifting and theory of mind) with people in the autistic spectrum. Conclusion: Behavioural and intermediate neuropsychological traits are shared between eating disorders and ASD. In part, these are familial but also they are accentuated by the illness state and may be secondary to starvation. These traits have implications for prognosis and treatment.

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76. Uchino S, Waga C. {{SHANK3 as an autism spectrum disorder-associated gene}}. {Brain Dev};2013 (Feb);35(2):106-110.

SHANK3 is a synaptic scaffolding protein enriched in the postsynaptic density of excitatory synapses, and plays important roles in the formation, maturation, and maintenance of synapses. Haploinsufficiency of the SHANK3 gene causes a developmental disorder, 22q13.3 deletion syndrome (known as Phelan-McDermid syndrome), that is characterized by severe expressive language and speech delay, hypotonia, global developmental delay, and autistic behavior. Since several SHANK3 mutations have been identified in a particular phenotypic group in patients with autism spectrum disorder (ASD), the SHANK3 is strongly suspected of being involved in the pathogenesis and neuropathology of ASD. Five CpG-islands have been identified in the SHANK3 gene, and tissue-specific expression of SHANK3 is regulated by DNA methylation in an epigenetic manner. Cumulative evidence has shown that several SHANK3 variants are expressed in the developing rodent brain and that their expression is regulated by DNA methylation of intragenic promoters. We identified novel SHANK3 transcripts whose transcription started at the vicinity of the CpG-island 2 in the mouse brain. Shank3 mutant mice exhibit autistic-like behaviors, including impaired social interaction and repetitive behaviors. In this article we review recent findings in regard to higher brain functions of SHANK3, epigenetic regulation of SHANK3 expression, and SHANK3-related ASD that were obtained from genetic analyses in ASD patients, molecular biological studies using developing mouse brains, and studies of Shank3 mutant mice.

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77. Van der Molen MJ, Van der Molen MW. {{Reduced alpha and exaggerated theta power during the resting-state EEG in fragile X syndrome}}. {Biol Psychol};2013 (Feb);92(2):216-219.

This study characterizes the resting-state EEG in males with fragile X syndrome to reveal abnormalities in oscillatory brain dynamics. Analyses of the eyes-closed EEG epochs showed that the resting-state EEG in FXS can be characterized by elevated relative theta power (4-8Hz) and reduced relative upper-alpha power (10-12Hz). Although preliminary, these findings suggest that the well-documented imbalance in excitatory/inhibitory cortical circuit activity in FXS can be revealed the level of oscillatory behavior at the scalp. A next step for future studies is linking the EEG resting-state indices to cognitive and behavioral measures.

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78. van Eeghen AM, Pulsifer MB, Merker VL, Neumeyer AM, van Eeghen EE, Thibert RL, Cole AJ, Leigh FA, Plotkin SR, Thiele EA. {{Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach}}. {Dev Med Child Neurol};2013 (Feb);55(2):146-153.

Aim As relationships between autistic traits, epilepsy, and cognitive functioning remain poorly understood, these associations were explored in the biologically related disorders tuberous sclerosis complex (TSC), neurofibromatosis type 1 (NF1), and epilepsy. Method The Social Responsiveness Scale (SRS), a quantitative measure of autistic traits, was distributed to caregivers or companions of patients with TSC, NF1, and childhood-onset epilepsy of unknown cause (EUC), and these results were compared with SRS data from individuals with idiopathic autism spectrum disorders (ASDs) and their unaffected siblings. Scores and trait profiles of autistic features were compared with cognitive outcomes, epilepsy variables, and genotype. Results A total of 180 SRS questionnaires were completed in the TSC, NF1, and EUC outpatient clinics at the Massachusetts General Hospital (90 females, 90 males; mean age 21y, range 4-63y), and SRS data from 210 patients with ASD recruited from an autism research collaboration (167 males, 43 females; mean age 9y, range 4-22y) and 130 unaffected siblings were available. Regression models showed a significant association between SRS scores and intelligence outcomes (p<0.001) and various seizure variables (p<0.02), but not with a specific underlying disorder or genotype. The level of autistic features was strongly associated with intelligence outcomes in patients with TSC and epilepsy (p<0.01); in patients with NF1 these relationships were weaker (p=0.25). For all study groups, autistic trait subdomains covaried with neurocognitive comorbidity, with endophenotypes similar to that of idiopathic autism. Interpretation Our data show that in TSC and childhood-onset epilepsy, the severity and phenotype of autistic features are inextricably linked with intelligence and epilepsy outcomes. Such relationships were weaker for individuals with NF1. Findings suggest that ASDs are not specific in these conditions.

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79. van Steensel FJ, Bogels SM, Wood JJ. {{Autism spectrum traits in children with anxiety disorders}}. {J Autism Dev Disord};2013 (Feb);43(2):361-370.

The aim of this study was to examine ASD traits in children with clinical anxiety in early development, as well as current manifestations. Parents of 42 children with an anxiety disorder (but no known diagnosis of ASD) and 42 typically developing children were interviewed using the Autism Diagnostic Interview (ADI-R). They also completed questionnaires that assessed child anxiety (SCARED-71) and children’s ASD symptoms. Results revealed that children with anxiety disorders had higher scores than typically developing children, for both ASD traits in early development as well as current ASD symptoms. A specific association was found between symptoms of Social Anxiety Disorder and ASD traits early in life. Findings are considered in terms of clinical implications, and limitations are discussed.

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80. Walsh KS, Velez JI, Kardel PG, Imas DM, Muenke M, Packer RJ, Castellanos FX, Acosta MT. {{Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1}}. {Dev Med Child Neurol};2013 (Feb);55(2):131-138.

Aim Difficulties in neurocognition and social interaction are the most prominent causes of morbidity and long-term disability in children with neurofibromatosis type 1 (NF1). Symptoms of attention-deficit-hyperactivity disorder (ADHD) have also been extensively recognized in NF1. However, systematic evaluation of symptoms of autism spectrum disorder (ASD) in children with NF1 has been limited. Method We present a retrospective, cross-sectional study of the prevalence of symptoms of ASD and ADHD and their relationship in a consecutive series of 66 patients from our NF1 clinic. The Social Responsiveness Scale and the Vanderbilt ADHD Diagnostic Parent Rating Scale were used to assess symptoms of ASD and ADHD. Results Sixty-six participants (42 males, 24 females) were included in this study. Mean age at assessment was 10 years 11 months (SD 5y 4mo). Forty percent of our NF1 sample had raised symptom levels reaching clinical significance on the Social Responsiveness Scale (T >/= 60), and 14% reached levels consistent with those seen in children with ASDs (T >/= 75). These raised levels were not explained by NF1 disease severity or externalizing/internalizing behavioral disorders. There was a statistically significant relationship between symptoms of ADHD and ASD (chi(2) =9.11, df=1, p=0.003, phi=0.56). Particularly salient were the relationships between attention and hyperactivity deficits, with impairments in social awareness and social motivation. Interpretation We found that symptoms of ASD in our NF1 population were raised, consistent with previous reports. Further characterization of the specific ASD symptoms and their impact on daily function is fundamental to the development and implementation of effective interventions in this population, which will probably include a combination of medical and behavioral approaches.

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81. Ward KM, Atkinson JP, Smith CA, Windsor R. {{A friendships and dating program for adults with intellectual and developmental disabilities: a formative evaluation}}. {Intellect Dev Disabil};2013 (Feb);51(1):22-32.

Abstract Meaningful relationships with others are often elusive for people with intellectual and developmental disabilities, but no less desired for their full inclusion and participation in society. It is well documented that people with disabilities are victims of interpersonal violence at higher rates than peers without disabilities. This article presents a formative evaluation of the Friendships and Dating Program (FDP). The FDP was designed to teach the social skills needed to develop healthy, meaningful relationships and to prevent violence in dating and partnered relationships. Thirty-one adults were recruited by 5 community agencies in Alaska to participate. The results showed the size of the participants’ social networks increased and the number of incidents of interpersonal violence was reduced for participants who completed the FDP, and outcomes were maintained 10 weeks later.

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82. Ward SC, Whalon K, Rusnak K, Wendell K, Paschall N. {{The Association Between Therapeutic Horseback Riding and the Social Communication and Sensory Reactions of Children with Autism}}. {J Autism Dev Disord};2013 (Feb 1)

This study investigated the association between therapeutic riding (TR) and the social communication and sensory processing skills of 21 elementary students with autism attending TR as part of a school group. An interrupted treatment design was employed to determine whether children were able to maintain treatment effects following the removal of TR. Teacher ratings indicated that participating children with autism significantly increased their social interaction, improved their sensory processing, and decreased the severity of symptoms associated with autism spectrum disorders following TR. Gains were not maintained consistently after two 6-week breaks from TR, but were recovered once TR was reinstated. Potential explanations regarding the benefits of TR are discussed, and suggestions for future research provided.

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83. Westphal A, Schelinski S, Volkmar F, Pelphrey K. {{Revisiting Regression in Autism: Heller’s Dementia Infantilis : Includes A Translation of Uber Dementia Infantilis}}. {J Autism Dev Disord};2013 (Feb);43(2):265-271.

Theodor Heller first described a severe regression of adaptive function in normally developing children, something he termed dementia infantilis, over one 100 years ago. Dementia infantilis is most closely related to the modern diagnosis, childhood disintegrative disorder. We translate Heller’s paper, Uber Dementia Infantilis, and discuss similarities in presentation between Heller’s cases, and a group of children with childhood disintegrative disorder. In particular we discuss a prodromal period of affective dysregulation described by Heller, and also evident in our sample, but not previously described in any detail since the publication of Uber Dementia Infantilis.

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84. White SW, Ollendick T, Albano AM, Oswald D, Johnson C, Southam-Gerow MA, Kim I, Scahill L. {{Randomized controlled trial: multimodal anxiety and social skill intervention for adolescents with autism spectrum disorder}}. {J Autism Dev Disord};2013 (Feb);43(2):382-394.

Anxiety is common among adolescents with autism spectrum disorders (ASD) and may amplify the core social disability, thus necessitating combined treatment approaches. This pilot, randomized controlled trial evaluated the feasibility and preliminary outcomes of the Multimodal Anxiety and Social Skills Intervention (MASSI) program in a sample of 30 adolescents with ASD and anxiety symptoms of moderate or greater severity. The treatment was acceptable to families, subject adherence was high, and therapist fidelity was high. A 16 % improvement in ASD social impairment (within-group effect size = 1.18) was observed on a parent-reported scale. Although anxiety symptoms declined by 26 %, the change was not statistically significant. These findings suggest MASSI is a feasible treatment program and further evaluation is warranted.

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85. Williams D, Payne H, Marshall C. {{Non-word Repetition Impairment in Autism and Specific Language Impairment: Evidence for Distinct Underlying Cognitive Causes}}. {J Autism Dev Disord};2013 (Feb);43(2):404-417.

Language-impaired individuals with autism perform poorly on tests such as non-word repetition that are sensitive clinical markers of specific language impairment (SLI). This has fuelled the theory that language impairment in autism represents a co-morbid SLI. However, the underlying cause of these deficits may be different in each disorder. In a novel task, we manipulated non-word stimuli in three ways known to influence the repetition accuracy of children with SLI. Participants with SLI were affected differently by these manipulations to children with autism. Children with autism performed similarly to language-matched typical children in terms of levels and patterns of performance, and types of error made, suggesting that the underlying cognitive cause of non-word repetition deficits is different in each disorder.

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86. Xu D, Gilkerson J, Richards JA. {{Objective child behavior measurement with naturalistic daylong audio recording and its application to autism identification}}. {Conf Proc IEEE Eng Med Biol Soc};2012 (Aug);2012:3708-3711.

Child behavior in the natural environment is a subject that is relevant for many areas of social science and bio-behavioral research. However, its measurement is currently based mainly on subjective approaches such as parent questionnaires or clinical observation. This study demonstrates an objective and unobtrusive child vocal behavior measurement and monitoring approach using daylong audio recordings of children in the natural home environment. Our previous research has shown significant performance in childhood autism identification. However, there remains the question of why it works. In the previous study, the focus was more on the overall performance and data-driven modeling without regard to the meaning of underlying features. Even if a high risk of autism is predicted, specific information about child behavior that could contribute to the automated categorization was not further explored. This study attempts to clarify this issue by exploring the details of underlying features and uncovering additional behavioral information buried within the audio streams. It was found that much child vocal behavior can be measured automatically by applying signal processing and pattern recognition technologies to daylong audio recordings. By combining many such features, the model achieves an overall autism identification accuracy of 94% (N=226). Similar to many emerging non-invasive and telemonitoring technologies in health care, this approach is believed to have great potential in child development research, clinical practice and parenting.

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87. Yamasue H. {{Function and structure in social brain regions can link oxytocin-receptor genes with autistic social behavior}}. {Brain Dev};2013 (Feb);35(2):111-118.

Difficulties in appropriate social and communicative behaviors are the most prevalent and core symptoms of autism spectrum disorders (ASDs). Although recent intensive research has focused on the neurobiological background of these difficulties, many aspects of them were not yet elucidated. Recent studies have employed multimodal magnetic resonance imaging (MRI) indices as intermediate phenotypes of this behavioral phenotype to link candidate genes with the autistic social difficulty. As MRI indices, functional MRI (fMRI), structural MRI, and MR-spectroscopy have been examined in subjects with autism spectrum disorders. As candidate genes, this mini-review has much interest in oxytocin-receptor genes (OXTR), since recent studies have repeatedly reported their associations with normal variations in social cognition and behavior as well as with their extremes, autistic social dysfunction. Through previous increasing studies, medial prefrontal cortex, hypothalamus and amygdala have repeatedly been revealed as neural correlates of autistic social behavior by MRI multimodalities and their relationship to OXTR. For further development of this research area, this mini-review integrates recent accumulating evidence about human behavioral and neural correlates of OXTR.

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88. Yates D. {{Neurodevelopmental disorders: Overproducing autism}}. {Nat Rev Neurosci};2013 (Feb);14(2):79.

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89. Yim SV, Kim SK, Park HJ, Jeon HS, Jo BC, Kang WS, Lee SM, Kim JW, Chung JH. {{Assessment of the correlation between TIMP4 SNPs and schizophrenia and autism spectrum disorders}}. {Mol Med Report};2013 (Feb);7(2):489-494.

Tissue inhibitors of metalloproteinases (TIMPs) are involved in synaptic plasticity, neuronal cell differentiation and neuroprotection in the central nervous system. To investigate whether TIMP4 polymorphisms are associated with schizophrenia and autism spectrum disorders (ASDs), 480 patients (schizophrenia, n=287; ASDs, n=193) and 296 controls were enrolled. Clinical symptoms of schizophrenia and ASDs were assessed using the operation criteria checklist for psychotic illness (OPCRIT) and Childhood Autism Rating Scale (CARS), respectively. One promoter single nucleotide polymorphism (SNP; rs3755724, -55C/T) and one exonic SNP (rs17035945, 3′-untranslated region) were selected. SNPStats and SNPAnalyzer Pro programs were used to calculate odds ratios. Multiple logistic regression models were performed to analyze the genetic data. Based on the results, these two SNPs were not associated with schizophrenia and ASD. In the analysis of clinical features of schizophrenia, rs3755724 was nominally associated with schizophrenia with poor concentration (P=0.044 in the codominant2 model, P=0.041 in the log-additive model and P=0.043 in allele frequency). These results suggest that TIMP4 is not associated with the development of schizophrenia and ASD in the population studied.

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