1. Bekele E, Crittendon JA, Swanson A, Sarkar N, Warren ZE. {{Pilot clinical application of an adaptive robotic system for young children with autism}}. {Autism}. 2013 Oct 8.
It has been argued that clinical applications of advanced technology may hold promise for addressing impairments associated with autism spectrum disorders. This pilot feasibility study evaluated the application of a novel adaptive robot-mediated system capable of both administering and automatically adjusting joint attention prompts to a small group of preschool children with autism spectrum disorders (n = 6) and a control group (n = 6). Children in both groups spent more time looking at the humanoid robot and were able to achieve a high level of accuracy across trials. However, across groups, children required higher levels of prompting to successfully orient within robot-administered trials. The results highlight both the potential benefits of closed-loop adaptive robotic systems as well as current limitations of existing humanoid-robotic platforms.
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2. Callenmark B, Kjellin L, Ronnqvist L, Bolte S. {{Explicit versus implicit social cognition testing in autism spectrum disorder}}. {Autism}. 2013 Oct 8.
Although autism spectrum disorder is defined by reciprocal social-communication impairments, several studies have found no evidence for altered social cognition test performance. This study examined explicit (i.e. prompted) and implicit (i.e. spontaneous) variants of social cognition testing in autism spectrum disorder. A sample of 19 adolescents with autism spectrum disorder and 19 carefully matched typically developing controls completed the Dewey Story Test. ‘Explicit’ (multiple-choice answering format) and ‘implicit’ (free interview) measures of social cognition were obtained. Autism spectrum disorder participants did not differ from controls regarding explicit social cognition performance. However, the autism spectrum disorder group performed more poorly than controls on implicit social cognition performance in terms of spontaneous perspective taking and social awareness. Findings suggest that social cognition alterations in autism spectrum disorder are primarily implicit in nature and that an apparent absence of social cognition difficulties on certain tests using rather explicit testing formats does not necessarily mean social cognition typicality in autism spectrum disorder.
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3. Cutress AL, Muncer SJ. {{Parents’ views of the National Autistic Society’s EarlyBird Plus Programme}}. {Autism}. 2013 Oct 8.
Parent training interventions are recommended for parents soon after their child’s autism spectrum condition diagnosis with the aim of improving parents’ psychological well-being and coping, as well as the child’s behaviour. This report explores parents’ views of the EarlyBird Plus Programme through data collected routinely in the post-programme questionnaire. Participants’ reported increased understanding of autism and improvements in their communication with their child and their ability to manage their child’s behaviour. Parents appeared to value the opportunity to meet with other parents, and the programme seemed acceptable to the majority of parents who attended.
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4. De Geyter C, M’Rabet N, De Geyter J, Zurcher S, Moffat R, Bosch N, Zhang H, Heinimann K. {{Similar prevalence of expanded CGG repeat lengths in the fragile X mental retardation I gene among infertile women and among women with proven fertility: a prospective study}}. {Genetics in medicine : official journal of the American College of Medical Genetics}. 2013 Oct 10.
Purpose:We sought to determine the usefulness of fragile X mental retardation 1 (FMR1) carrier testing among young infertile women with or without signs of ovarian insufficiency as compared with fertile women.Methods:Three cohorts of women were recruited to determine the cytosine-guanine-guanine (CGG) repeats trinucleotide repeat length in the 5′-untranslated region of the FMR1 gene in lymphocyte DNA. A total of 199 fertile women, who were reported to have conceived within 3 months, were recruited together with 372 infertile women with ongoing menstrual cycles and 48 infertile women with primary ovarian insufficiency. The various ranges of FMR1 CGG repeat lengths among infertile women were compared with those of fertile controls. In infertile women with ongoing menstrual cycles, the serum concentrations of follicle-stimulating hormone, anti-Muellerian hormone, and inhibin B were measured during the early follicular phase.Results:None of the three categories of FMR1 CGG repeat length expansions (premutation, intermediate range, and high normal range) were more prevalent among infertile women than among fertile women. The CGG repeat length was not correlated with any of the ovarian reserve parameters.Conclusion:In comparison with a generalized preconception screening strategy, infertility as a criterion, even together with reduced ovarian reserve, is not suitable for identifying a higher proportion of women with expanded FMR1 CGG repeat length.Genet Med advance online publication 10 October 2013Genetics in Medicine (2013); doi:10.1038/gim.2013.146.
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5. Engelhardt CR, Mazurek MO. {{Video game access, parental rules, and problem behavior: A study of boys with autism spectrum disorder}}. {Autism}. 2013 Oct 8.
Environmental correlates of problem behavior among individuals with autism spectrum disorder remain relatively understudied. The current study examined the contribution of in-room (i.e. bedroom) access to a video game console as one potential correlate of problem behavior among a sample of 169 boys with autism spectrum disorder (ranging from 8 to 18 years of age). Parents of these children reported on (1) whether they had specific rules regulating their child’s video game use, (2) whether their child had in-room access to a variety of screen-based media devices (television, computer, and video game console), and (3) their child’s oppositional behaviors. Multivariate regression models showed that in-room access to a video game console predicted oppositional behavior while controlling for in-room access to other media devices (computer and television) and relevant variables (e.g. average number of video game hours played per day). Additionally, the association between in-room access to a video game console and oppositional behavior was particularly large when parents reported no rules on their child’s video game use. The current findings indicate that both access and parental rules regarding video games warrant future experimental and longitudinal research as they relate to problem behavior in boys with autism spectrum disorder.
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6. Frazier TW, Youngstrom EA, Embacher R, Hardan AY, Constantino JN, Law P, Findling RL, Eng C. {{Demographic and clinical correlates of autism symptom domains and autism spectrum diagnosis}}. {Autism}. 2013 Oct 8.
Demographic and clinical factors may influence assessment of autism symptoms. This study evaluated these correlates and also examined whether social communication and interaction and restricted/repetitive behavior provided unique prediction of autism spectrum disorder diagnosis. We analyzed data from 7352 siblings included in the Interactive Autism Network registry. Social communication and interaction and restricted/repetitive behavior symptoms were obtained using caregiver-reports on the Social Responsiveness Scale. Demographic and clinical correlates were covariates in regression models predicting social communication and interaction and restricted/repetitive behavior symptoms. Logistic regression and receiver operating characteristic curve analyses evaluated the incremental validity of social communication and interaction and restricted/repetitive behavior domains over and above global autism symptoms. Autism spectrum disorder diagnosis was the strongest correlate of caregiver-reported social communication and interaction and restricted/repetitive behavior symptoms. The presence of comorbid diagnoses also increased symptom levels. Social communication and interaction and restricted/repetitive behavior symptoms provided significant, but modest, incremental validity in predicting diagnosis beyond global autism symptoms. These findings suggest that autism spectrum disorder diagnosis is by far the largest determinant of quantitatively measured autism symptoms. Externalizing (attention deficit hyperactivity disorder) and internalizing (anxiety) behavior, low cognitive ability, and demographic factors may confound caregiver-report of autism symptoms, potentially necessitating a continuous norming approach to the revision of symptom measures. Social communication and interaction and restricted/repetitive behavior symptoms may provide incremental validity in the diagnosis of autism spectrum disorder.
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7. Freuler AC, Baranek GT, Tashjian C, Watson LR, Crais ER, Turner-Brown LM. {{Parent reflections of experiences of participating in a randomized controlled trial of a behavioral intervention for infants at risk of autism spectrum disorders}}. {Autism}. 2013 Oct 8.
Background:Despite the mounting evidence of efficacy of early intervention for children with autism spectrum disorders, there is little research that considers the various perceptions and resources with which parents respond to the pressures and opportunities associated with participation in early intervention. Research is particularly lacking surrounding experiences of parents with infants who are at risk of autism spectrum disorders but do not (yet) have a diagnosed condition.Objectives:This qualitative study aimed to explore the experiences of caregivers following their participation in a randomized controlled trial of Adapted Responsive Teaching, a parent-infant relationship-focused intervention for infants at risk of autism spectrum disorders in a community sample. Parents were randomized into either the treatment group, in which they participated in the Adapted Responsive Teaching intervention, or the community services group, in which they were provided with information regarding local early intervention services and were encouraged, but not required to, seek community services as part of their inclusion in the randomized controlled trial.Methods:Semistructured interviews were conducted with families following the completion of the randomized controlled trial. Participants consisted of 13 mothers and 4 fathers. Five dyads were interviewed together for a total of 14 families. Child ages ranged from 39 to 46 months at the time of interview. Analysis was conducted on 14 interviews from 10 families who were randomized into the treatment group and 4 families randomized into the community services group. Analysis was informed by a thematic analysis approach, which involved a systematic process of coding and theme identification both across and within groups.Results:Themes that emerged across groups included Working against all odds, Value of the personal relationship, Getting the ball rolling, and Getting dad on board. One broad theme represented the data within the groups: Win-win (Adapted Responsive Teaching group) and Navigating amidst ambiguity (community services group).Conclusions:This study illuminates the personal experiences and contextual influences affecting families who are participating in the randomized controlled trial through early identification of « risk » status for autism spectrum disorders in their infants. Insights gained from these interviews may serve to refine and enhance intervention models and to enhance early intervention services for families.
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8. Leezenbaum NB, Campbell SB, Butler D, Iverson JM. {{Maternal verbal responses to communication of infants at low and heightened risk of autism}}. {Autism}. 2013 Oct 10.
This study investigates mothers’ responses to infant communication among infants at heightened genetic risk (high risk) of autism spectrum disorder compared to infants with no such risk (low risk). A total of 26 infants, 12 of whom had an older sibling with autism spectrum disorder, were observed during naturalistic in-home interaction and semistructured play with their mothers at 13 and 18 months of age. Results indicate that overall, mothers of low-risk and high-risk infants were highly and similarly responsive to their infants’ communicative behaviors. However, examination of infant vocal and gestural communication development together with maternal verbal responses and translations (i.e. verbally labeling a gesture referent) suggests that delays in early communication development observed among high-risk infants may alter the input that these infants receive; this in turn may have cascading effects on the subsequent development of communication and language.
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9. Levitt ES, Hunnicutt BJ, Knopp SJ, Williams JT, Bissonnette JM. {{A selective 5-HT 1a receptor agonist improves respiration in a mouse model of Rett syndrome}}. {Journal of applied physiology (Bethesda, Md : 1985)}. 2013 Oct 10.
Rett syndrome is a neurological disorder caused by loss of function mutations in the gene that encodes the DNA binding protein methyl-CpG-binding protein 2 (Mecp2). A prominent feature of the syndrome is disturbances in respiration characterized by frequent apnea and an irregular inter-breath cycle. 8-Hydroxy-2-dipropylaminotetralin (8-OH-DPAT) has been shown to positively modulate these disturbances (Abdala et al, PNAS 107:18208, 2010) but the mode of action is not understood. Here we show that the selective 5-HT1a biased agonist 3-chloro-4-fluorophenyl-(4-fluoro-4-{[(5-methylpyrimidin-2-ylmethyl)-amino]-methy l}-piperidin-1-yl)-methanone (F15599) decreases apnea and corrects irregularity. In whole-cell voltage-clamp recordings from dorsal raphe neurons, F15599 potently induced an outward current which reversed at the potassium equilibrium potential and was antagonized by the 5-HT1a antagonist WAY100135. This is consistent with somatodendritic 5-HT1a receptor-mediated activation of G protein-coupled inwardly rectifying potassium channels (GIRK) In contrast, F15599 did not activate 5-HT 1b/d receptors that mediate inhibition of glutamate release from terminals in the nucleus accumbens by a presynaptic mechanism. Thus, F15599 activated somatodendritic 5-HT1a autoreceptors, but not axonal 5-HT 1b/d receptors. In unanaesthetized methyl-CpG-binding protein 2 (Mecp2) deficient heterozygous female mice F15599 reduced apnea in a dose dependent manner with maximal effect of 74.5 +/- 6.9 % at 0.1 mg/Kg and improved irregularity. Similarly in Mecp2 null male mice apnea was reduced by 62 +/- 6.6 % at 0.25 mg/Kg and breathing became more regular. The results indicate respiration is improved with a 5-HT1a agonist that activates GIRK channels without affecting neurotransmitter release.
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10. Locke J, Rotheram-Fuller E, Xie M, Harker C, Mandell D. {{Correlation of cognitive and social outcomes among children with autism spectrum disorder in a randomized trial of behavioral intervention}}. {Autism}. 2013 Oct 8.
Although social impairments are considered the hallmark deficit of autism, many behavioral intervention studies rely on cognitive functioning as a primary outcome. Fewer studies have examined whether changes in cognition are associated with changes in social functioning. This study examined whether cognitive gains among 192 students from 47 kindergarten-through-second-grade autism support classrooms participating in a year-long behavioral intervention study were associated with gains in social functioning. Children’s gains in cognitive ability were modestly associated with independent assessors’ and teachers’ evaluations of social functioning but were not associated with changes in parent ratings. Observed social gains were not commensurate with gains in cognition, suggesting the need both for interventions that directly target social functioning and relevant field measures of social functioning.
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11. Mandy W, Charman T, Puura K, Skuse D. {{Investigating the cross-cultural validity of DSM-5 autism spectrum disorder: Evidence from Finnish and UK samples}}. {Autism}. 2013 Oct 10.
The recent Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5) reformulation of autism spectrum disorder has received empirical support from North American and UK samples. Autism spectrum disorder is an increasingly global diagnosis, and research is needed to discover how well it generalises beyond North America and the United Kingdom. We tested the applicability of the DSM-5 model to a sample of Finnish young people with autism spectrum disorder (n = 130) or the broader autism phenotype (n = 110). Confirmatory factor analysis tested the DSM-5 model in Finland and compared the fit of this model between Finnish and UK participants (autism spectrum disorder, n = 488; broader autism phenotype, n = 220). In both countries, autistic symptoms were measured using the Developmental, Diagnostic and Dimensional Interview. Replicating findings from English-speaking samples, the DSM-5 model fitted well in Finnish autism spectrum disorder participants, outperforming a Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition (DSM-IV) model. The DSM-5 model fitted equally well in Finnish and UK autism spectrum disorder samples. Among broader autism phenotype participants, this model fitted well in the United Kingdom but poorly in Finland, suggesting that cross-cultural variability may be greatest for milder autistic characteristics. We encourage researchers with data from other cultures to emulate our methodological approach, to map any cultural variability in the manifestation of autism spectrum disorder and the broader autism phenotype. This would be especially valuable given the ongoing revision of the International Classification of Diseases-11th Edition, the most global of the diagnostic manuals.
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12. Marrus N, Veenstra-Vanderweele J, Hellings JA, Stigler KA, Szymanski L, King BH, Carlisle LL, Cook EH, Jr., The American Academy of Child Adolescent Psychiatry A, Intellectual Disability C, Pruett JR, Jr. {{Training of child and adolescent psychiatry fellows in autism and intellectual disability}}. {Autism}. 2013 Oct 10.
Patients with autism spectrum disorders and intellectual disability can be clinically complex and often have limited access to psychiatric care. Because little is known about post-graduate clinical education in autism spectrum disorder and intellectual disability, we surveyed training directors of child and adolescent psychiatry fellowship programs. On average, child and adolescent psychiatry directors reported lectures of 3 and 4 h per year in autism spectrum disorder and intellectual disability, respectively. Training directors commonly reported that trainees see 1-5 patients with autism spectrum disorder or intellectual disability per year for outpatient pharmacological management and inpatient treatment. Overall, 43% of directors endorsed the need for additional resources for training in autism spectrum disorder and intellectual disability, which, coupled with low didactic and clinical exposure, suggests that current training is inadequate.
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13. May T, Cornish K, Rinehart N. {{Does Gender Matter? A One Year Follow-up of Autistic, Attention and Anxiety Symptoms in High-Functioning Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2013 Oct 9.
Gender differences in autism spectrum disorder (ASD) symptoms and associated problem behaviours over development may provide clues regarding why more males than females are diagnosed with ASD. Fifty-six high-functioning children with ASD, and 44 typically developing controls, half of the participants female, were assessed at baseline (aged 7-12 years) and one-year later, collecting measures of autism, attention and anxiety symptoms, school placement and support information. Findings indicated no gender differences in autistic symptoms. Males were more hyperactive and received more integration-aide support in mainstream schools, and females were more socially anxious. Overall, similar gender profiles were present across two time points. Lower hyperactivity levels in females might contribute to their under-identification. Implications are discussed using a biopsychosocial model of gender difference.
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14. Mazefsky CA, Schreiber DR, Olino TM, Minshew NJ. {{The association between emotional and behavioral problems and gastrointestinal symptoms among children with high-functioning autism}}. {Autism}. 2013 Oct 8.
This study investigated the association between gastrointestinal symptoms and a broad set of emotional and behavioral concerns in 95 children with high-functioning autism and IQ scores >/= 80. Gastrointestinal symptoms were assessed via the Autism Treatment Network’s Gastrointestinal Symptom Inventory, and data were gathered on autism symptom severity, adaptive behavior, and multiple internalizing and externalizing problems. The majority (61%) of children had at least one reported gastrointestinal symptom. Emotional and behavioral problems were also common but with a high degree of variability. Children with and without gastrointestinal problems did not differ in autism symptom severity, adaptive behavior, or total internalizing or externalizing problem scores. However, participants with gastrointestinal problems had significantly higher levels of affective problems. This finding is consistent with a small body of research noting a relationship between gastrointestinal problems, irritability, and mood problems in autism spectrum disorder. More research to identify the mechanisms underlying this relationship in autism spectrum disorder is warranted. Future research should include a medical assessment of gastrointestinal concerns, longitudinal design, and participants with a range of autism spectrum disorder severity in order to clarify the directionality of this relationship and to identify factors that may impact heterogeneity in the behavioral manifestation of gastrointestinal concerns.
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15. McStay RL, Dissanayake C, Scheeren A, Koot HM, Begeer S. {{Parenting stress and autism: The role of age, autism severity, quality of life and problem behaviour of children and adolescents with autism}}. {Autism}. 2013 Oct 8.
While stress is a common experience for parents caring for a child with a developmental disability, current measures fail to distinguish between general stress in parents and the demands of parenting and perceptions of parenting skills (parenting stress). This study examined differences in ‘parenting stress’ reported by parents of children with autism and typically developing children. This study examined the role of child characteristics (age, autism severity, child quality of life and problem behaviour) on parenting stress in 150 parents of cognitively able children and adolescents with autism. The results revealed that child hyperactivity was the only factor significantly related to parenting stress in parents of children with autism, overruling measures of autism severity and child quality of life. This finding indicates the significant influence of problematic behaviours on parenting demands and perceptions of parenting skills in parents of children with autism, over other child characteristics conceived as within the parent’s control. Study implications for future research are discussed.
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16. Meyer RR. {{A review of the serotonin transporter and prenatal cortisol in the development of autism spectrum disorders}}. {Molecular autism}. 2013 Oct 8;4(1):37.
The diagnosis of autism spectrum disorder (ASD) during early childhood has a profound effect not only on young children but on their families. Aside from the physical and behavioural issues that need to be dealt with, there are significant emotional and financial costs associated with living with someone diagnosed with ASD. Understanding how autism occurs will assist in preparing families to deal with ASD, if not preventing or lessening its occurrence.Serotonin plays a vital role in the development of the brain during the prenatal and postnatal periods, yet very little is known about the serotonergic systems that affect children with ASD. This review seeks to provide an understanding of the biochemistry and physiological actions of serotonin and its termination of action through the serotonin reuptake transporter (SERT). Epidemiological studies investigating prenatal conditions that can increase the risk of ASD describe a number of factors which elevate plasma cortisol levels causing such symptoms during pregnancy such as hypertension, gestational diabetes and depression. Because cortisol plays an important role in driving dysregulation of serotonergic signalling through elevating SERT production in the developing brain, it is also necessary to investigate the physiological functions of cortisol, its action during gestation and metabolic syndromes.
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17. Must A, Phillips SM, Curtin C, Anderson SE, Maslin M, Lividini K, Bandini LG. {{Comparison of sedentary behaviors between children with autism spectrum disorders and typically developing children}}. {Autism}. 2013 Oct 10.
Time spent in sedentary behavior is largely due to time spent engaged with electronic screen media. Little is known about the extent to which sedentary behaviors for children with autism spectrum disorder differ from typically developing children. We used parental report to assess and compare time spent in sedentary behaviors for 53 children with autism spectrum disorder and 58 typically developing children aged 3-11 years. We also determined how sedentary behavior was related to child weight status (body mass index z-score). Overall, children with autism spectrum disorder spent an hour more in sedentary behaviors on weekdays compared to typically developing children (5.2 vs 4.2 h, p = 0.03), and most of this difference was due to screen time. The age- and sex-adjusted estimate of weekday total daily screen time was 1.6 h (typically developing) compared to 2.5 h (autism spectrum disorder, p = 0.004 for difference). A significant relationship between BMI z-score and total sedentary behavior time on weekend days was observed among young children with ASD, but not among TD children. The modest association between weekend sedentary behaviour time and BMI z-score among children with ASD suggests that sedentary behaiour is linked to relative weight status in these children. Further research is needed to confirm these findings and identify causal pathways.
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18. Panerai S, Tasca D, Lanuzza B, Trubia G, Ferri R, Musso S, Alagona G, Di Guardo G, Barone C, Gaglione MP, Elia M. {{Effects of repetitive transcranial magnetic stimulation in performing eye-hand integration tasks: Four preliminary studies with children showing low-functioning autism}}. {Autism}. 2013 Oct 10.
This report, based on four studies with children with low-functioning autism, aimed at evaluating the effects of repetitive transcranial magnetic stimulation delivered on the left and right premotor cortices on eye-hand integration tasks; defining the long-lasting effects of high-frequency repetitive transcranial magnetic stimulation; and investigating the real efficacy of high-frequency repetitive transcranial magnetic stimulation by comparing three kinds of treatments (high-frequency repetitive transcranial magnetic stimulation, a traditional eye-hand integration training, and both treatments combined). Results showed a significant increase in eye-hand performances only when high-frequency repetitive transcranial magnetic stimulation was delivered on the left premotor cortex; a persistent improvement up to 1 h after the end of the stimulation; better outcomes in the treatment combining high-frequency repetitive transcranial magnetic stimulation and eye-hand integration training. Based on these preliminary findings, further evaluations on the usefulness of high-frequency repetitive transcranial magnetic stimulation in rehabilitation of children with autism are strongly recommended.
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19. Patankar JV. {{Cholesterol metabolism is a potential therapeutic target for Rett syndrome}}. {Clinical genetics}. 2013 Sep 18.
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20. Patterson SY, Elder L, Gulsrud A, Kasari C. {{The association between parental interaction style and children’s joint engagement in families with toddlers with autism}}. {Autism}. 2013 Oct 8.
Purpose:This study examines the relationship between parental interaction style (responsive vs directive) and child-initiated joint engagement within caregiver-child interactions with toddlers diagnosed with autism spectrum disorders.Method:Videotaped interactions of 85 toddler-caregiver dyads were coded for child engagement and both parental responsiveness and directiveness.Results:Altogether, children spent less than one-third of the interaction jointly engaged. After controlling for child characteristics, parental style was associated with the initiator (child or parent) of joint engagement. Specifically, responsiveness predicted total time in child-initiated joint engagement, while directiveness predicted total time in parent-initiated joint engagement. Children’s social behaviours were associated with child-initiated joint engagement.Discussion:Social initiations are a key target for children with autism spectrum disorders. Results demonstrate that child initiations and global social behaviour ratings are associated with parental responsivity. Responsivity may be a critical factor to facilitate children’s initiations.
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21. Rangasamy S, D’Mello SR, Narayanan V. {{Epigenetics, Autism Spectrum, and Neurodevelopmental Disorders}}. {Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics}. 2013 Oct 9.
Epigenetic marks are modifications of DNA and histones. They are considered to be permanent within a single cell during development, and are heritable across cell division. Programming of neurons through epigenetic mechanisms is believed to be critical in neural development. Disruption or alteration in this process causes an array of neurodevelopmental disorders, including autism spectrum disorders (ASDs). Recent studies have provided evidence for an altered epigenetic landscape in ASDs and demonstrated the central role of epigenetic mechanisms in their pathogenesis. Many of the genes linked to the ASDs encode proteins that are involved in transcriptional regulation and chromatin remodeling. In this review we highlight selected neurodevelopmental disorders in which epigenetic dysregulation plays an important role. These include Rett syndrome, fragile X syndrome, Prader-Willi syndrome, Angelman syndrome, and Kabuki syndrome. For each of these disorders, we discuss how advances in our understanding of epigenetic mechanisms may lead to novel therapeutic approaches.
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22. Sarajlija A, Djuric M, Tepavcevic DK, Grkovic S, Djordjevic M. {{Vitamin D deficiency in Serbian patients with Rett syndrome}}. {The Journal of clinical endocrinology and metabolism}. 2013 Oct 8.
INTRODUCTION:Rett syndrome (RTT) is a severe neurodevelopmental disorder. Bone manifestations of RTT include osteopenia and fractures. Studies addressing serum vitamin D levels in RTT patients are scarce.GOALS:1. To determine prevalence of vitamin D deficiency in RTT patients, 2. To compare serum vitamin D levels between patients with RTT and other neurological diseases, 3. To explore correlation between demographic and clinical characteristics of RTT patients and vitamin D levels.METHODS:Demographic and clinical characteristics included age, BMI z-score, mutation status, Clinical Severity Score, presence of epilepsy, number of antiepileptic drugs (AEDs), history of fractures, scoliosis and ambulation ability. Laboratory parameters included serum 25(OH)D, PTH, calcium and alkaline phosphatase.RESULTS:The study included 35 RTT patients and 35 age-matched females with other neurological diseases. The median serum 25(OH)D in RTT group was 26.25 nmol/L, with values below 75 nmol/L in all participants. Severe deficiency (<25 nmol/L) was detected in 17/35 (48.6%) patients. Median 25(OH)D concentration was significantly lower in RTT patients than in controls. The risk for fracture by 12 years of age in RTT patients was 35.3%. Inverse correlation of 25(OH)D level to age and PTH level was detected. Patients receiving antiepileptic polytherapy had 3.3 times greater chance for severe vitamin D deficiency than patients with monotherapy.CONCLUSION:Prevalence of vitamin D deficiency in RTT patients is higher than in patients with other neurological diseases. High risk for vitamin D deficiency should be accounted for in the strategy of antiepileptic treatment in RTT, especially when polytherapy is considered.
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23. Tebartz van Elst L, Pick M, Biscaldi M, Fangmeier T, Riedel A. {{High-functioning autism spectrum disorder as a basic disorder in adult psychiatry and psychotherapy: psychopathological presentation, clinical relevance and therapeutic concepts}}. {European archives of psychiatry and clinical neuroscience}. 2013 Oct 9.
Autism spectrum disorder (ASD) is characterized by deficits in social cognition and competence, communication, highly circumscribed interests and a strong desire for routines. Besides, there are specific abnormalities in perception and language. Typical symptoms are already present in early childhood. Traditionally autism has been regarded as a severe form of neurodevelopmental disorder which goes along with overtly abnormal language, learning difficulties and low IQ in the majority of cases. However, over the last decades, it has become clear that there are also many patients with high-functioning variants of ASD. These are patients with normal language at a superficial level of description and normal and sometimes above average intelligence. In high-functioning variants of the disease, they may run unrecognized until late in adult life. High-functioning ASD is associated with a very high prevalence of comorbid classical psychiatric disorders such as depression, anxiety, ADHD, tics, psychotic symptoms or emotionally unstable syndromes. In many such cases, there is a causal relationship between ASD and the comorbid psychiatric conditions in that the specific ASD symptoms result in chronic conflicts, misunderstandings and failure in private and vocational relationships. These problems in turn often lead to depression, anxiety and sometimes psychosis-like stress reactions. In this constellation, ASD has to be regarded as a basic disorder with causal relevance for secondary psychiatric syndromes. In this paper, we summarize the classical presentation of high-functioning ASD in adult psychiatry and psychotherapy and suggest a nosological model to classify different ASD conditions instead. To conclude, we outline first treatment concepts in out- and in-patient settings.
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24. Trembath D, Iacono T, Lyon K, West D, Johnson H. {{Augmentative and alternative communication supports for adults with autism spectrum disorders}}. {Autism}. 2013 Oct 8.
Many adults with autism spectrum disorders have complex communication needs and may benefit from the use of augmentative and alternative communication. However, there is a lack of research examining the specific communication needs of these adults, let alone the outcomes of interventions aimed at addressing them. The aim of this study was to explore the views and experiences of support workers and family members regarding the outcomes of providing low-technology communication aids to adults with autism spectrum disorders. The participants were six support workers and two family members of six men and women with autism spectrum disorders, who had received low-technology communication aids. Using semi-structured, in-depth interviews and following thematic analysis, the results revealed strong support for, and the potential benefits of, augmentative and alternative communication for both adults with autism spectrum disorders and their communication partners. The results also revealed inconsistencies in the actions taken to support the use of the prescribed augmentative and alternative communication systems, pointing to the clinical need to address common barriers to the provision of augmentative and alternative communication support. These barriers include organisational practices and limitations in the knowledge and skills of key stakeholders, as well as problematic attitudes.
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25. Warreyn P, Roeyers H. {{See what I see, do as I do: Promoting joint attention and imitation in preschoolers with autism spectrum disorder}}. {Autism}. 2013 Oct 8.
Since imitation and joint attention are both important abilities for young children and since children with autism spectrum disorder show a range of problems in these domains, imitation and joint attention are important targets for intervention. In this study, we examined the possibility of promoting imitation and joint attention by means of a training programme specifically designed for low-intensity, non-residential treatment. Two matched groups of 18 children each participated in the study. The experimental group, receiving the training programme, improved significantly more on joint attention than the group receiving only treatment as usual. Only the experimental group obtained a significantly higher imitation score during the post-test compared to the pre-test. This study shows that it is possible to promote joint attention with a low-intensity treatment programme. The results concerning imitation are more modest. Future replications should involve measures of stability and generalization.
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26. Yoshimura Y, Kikuchi M, Shitamichi K, Ueno S, Munesue T, Ono Y, Tsubokawa T, Haruta Y, Oi M, Niida Y, Remijn GB, Takahashi T, Suzuki M, Higashida H, Minabe Y. {{Atypical brain lateralisation in the auditory cortex and language performance in 3- to 7-year-old children with high-functioning autism spectrum disorder: a child-customised magnetoencephalography (MEG) study}}. {Molecular autism}. 2013 Oct 8;4(1):38.
BACKGROUND: Magnetoencephalography (MEG) is used to measure the auditory evoked magnetic field (AEF), which reflects language-related performance. In young children, however, the simultaneous quantification of the bilateral auditory-evoked response during binaural hearing is difficult using conventional adult-sized MEG systems. Recently, a child-customised MEG device has facilitated the acquisition of bi-hemispheric recordings, even in young children. Using the child-customised MEG device, we previously reported that language-related performance was reflected in the strength of the early component (P50m) of the auditory evoked magnetic field (AEF) in typically developing (TD) young children (2 to 5 years old) [Eur J Neurosci 2012, 35:644–650]. The aim of this study was to investigate how this neurophysiological index in each hemisphere is correlated with language performance in autism spectrum disorder (ASD) and TD children. METHODS: We used magnetoencephalography (MEG) to measure the auditory evoked magnetic field (AEF), which reflects language-related performance. We investigated the P50m that is evoked by voice stimuli (/ne/) bilaterally in 33 young children (3 to 7 years old) with ASD and in 30 young children who were typically developing (TD). The children were matched according to their age (in months) and gender. Most of the children with ASD were high-functioning subjects. RESULTS: The results showed that the children with ASD exhibited significantly less leftward lateralisation in their P50m intensity compared with the TD children. Furthermore, the results of a multiple regression analysis indicated that a shorter P50m latency in both hemispheres was specifically correlated with higher language-related performance in the TD children, whereas this latency was not correlated with non-verbal cognitive performance or chronological age. The children with ASD did not show any correlation between P50m latency and language-related performance; instead, increasing chronological age was a significant predictor of shorter P50m latency in the right hemisphere. CONCLUSIONS: Using a child-customised MEG device, we studied the P50m component that was evoked through binaural human voice stimuli in young ASD and TD children to examine differences in auditory cortex function that are associated with language development. Our results suggest that there is atypical brain function in the auditory cortex in young children with ASD, regardless of language development.
