1. {{UNC scientists receive Simons Foundation grant for autism research}}. {J Investig Med};2011 (Jun);59(5):744.
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2. Funabiki Y, Murai T, Toichi M. {{Cortical activation during attention to sound in autism spectrum disorders}}. {Res Dev Disabil};2011 (Nov 23);33(2):518-524.
Individuals with autism spectrum disorders (ASDs) can demonstrate hypersensitivity to sounds as well as a lack of awareness of them. Several functional imaging studies have suggested an abnormal response in the auditory cortex of such subjects, but it is not known whether these subjects have dysfunction in the auditory cortex or are simply not listening. We measured changes in blood oxygenated hemoglobin (OxyHb) in the prefrontal and temporal cortices using near-infrared spectroscopy during various listening and ignoring tasks in 11 ASD and 12 control subjects. Here we show that the auditory cortex in ASD subjects responds to sounds fully during attention. OxyHb in the auditory cortex increased with intentional listening but not with ignoring of the same auditory stimulus in a similar fashion in both groups. Cortical responses differed not in the auditory but in the prefrontal region between the ASD and control groups. Thus, unawareness to sounds in ASD could be interpreted as due to inattention rather than dysfunction of the auditory cortex. Difficulties in attention control may account for the contrary behaviors of hypersensitivity and unawareness to sound in ASD.
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3. Goffin D, Allen M, Zhang L, Amorim M, Wang IT, Reyes AR, Mercado-Berton A, Ong C, Cohen S, Hu L, Blendy JA, Carlson GC, Siegel SJ, Greenberg ME, Zhou Z. {{Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses}}. {Nat Neurosci};2011 (Nov 27)
Mutations in the MECP2 gene cause the autism spectrum disorder Rett syndrome (RTT). One of the most common MeCP2 mutations associated with RTT occurs at threonine 158, converting it to methionine (T158M) or alanine (T158A). To understand the role of T158 mutations in the pathogenesis of RTT, we generated knockin mice that recapitulate the MeCP2 T158A mutation. We found a causal role for T158A mutation in the development of RTT-like phenotypes, including developmental regression, motor dysfunction, and learning and memory deficits. These phenotypes resemble those present in Mecp2 null mice and manifest through a reduction in MeCP2 binding to methylated DNA and a decrease in MeCP2 protein stability. The age-dependent development of event-related neuronal responses was disrupted by MeCP2 mutation, suggesting that impaired neuronal circuitry underlies the pathogenesis of RTT and that assessment of event-related potentials (ERPs) may serve as a biomarker for RTT and treatment evaluation.
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4. Kaluzna-Czaplinska J, Michalska M, Rynkowski J. {{Vitamin supplementation reduces the level of homocysteine in the urine of autistic children}}. {Nutr Res};2011 (Nov);31(11):874.
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5. Kasari C, Rotheram-Fuller E, Locke J, Gulsrud A. {{Making the connection: randomized controlled trial of social skills at school for children with autism spectrum disorders}}. {J Child Psychol Psychiatry};2011 (Nov 26)
Background: This study compared two interventions for improving the social skills of high functioning children with autism spectrum disorders in general education classrooms. One intervention involved a peer-mediated approach (PEER) and the other involved a child-assisted approach (CHILD). Method: The two interventions were crossed in a 2 x 2 factorial design yielding control, PEER, CHILD, and both PEER and CHILD conditions. Sixty children participated from 56 classrooms in 30 schools. Interventions involved 12 sessions over 6 weeks, with a 3-month follow-up. Outcome measures included self, peer and teacher reports of social skills and independent weekly observations of children on their school playground over the course of the intervention. Results: Significant improvements were found in social network salience, number of friendship nominations, teacher report of social skills in the classroom, and decreased isolation on the playground for children who received PEER interventions. Changes obtained at the end of the treatment persisted to the 3-month follow-up. Conclusions: These data suggest that significant improvements can be made in peer social connections for children with autism spectrum disorders in general education classrooms with a brief intervention, and that these gains persist over time.
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6. Kummer A, Harsanyi E. {{Comments on « Vitamin supplementation reduces the level of homocysteine in the urine of autistic children »}}. {Nutr Res};2011 (Nov);31(11):873.
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7. Lanovaz MJ, Sladeczek IE. {{Vocal Stereotypy in Individuals With Autism Spectrum Disorders: A Review of Behavioral Interventions}}. {Behav Modif};2011 (Nov 29)
Vocal stereotypy is a common problem behavior in individuals with autism spectrum disorders that may interfere considerably with learning and social inclusion. To assist clinicians in treating the behavior and to guide researchers in identifying gaps in the research literature, the authors provide an overview of research on vocal stereotypy in individuals with autism spectrum disorders. Specifically, the authors review the research literature on behavioral interventions to reduce engagement in vocal stereotypy with an emphasis on the applicability of the procedures in the natural environment and discuss the clinical implications and limitations of research conducted to date. Researchers have shown that several antecedent-based and consequence-based interventions may be effective at reducing vocal stereotypy. However, the review suggests that more research is needed to assist clinicians in initially selecting interventions most likely to produce desirable changes in vocal stereotypy and collateral behavior in specific circumstances.
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8. Lee MS, Choi TY, Shin BC, Ernst E. {{Acupuncture for Children with Autism Spectrum Disorders: A Systematic Review of Randomized Clinical Trials}}. {J Autism Dev Disord};2011 (Nov 29)
This study aimed to assess the effectiveness of acupuncture as a treatment for autism spectrum disorders (ASD). We searched the literature using 15 databases. Eleven randomized clinical trials (RCTs) met our inclusion criteria. Most had significant methodological weaknesses. The studies’ statistical and clinical heterogeneity prevented us from conducting a meta-analysis. Two RCTs found that acupuncture plus conventional language therapy was superior to sham acupuncture plus conventional therapy. Two other RCTs found that acupuncture produced significant effects compared with conventional language therapy or complex interventions. Three RCTs suggested that acupuncture plus conventional therapies had beneficial effects compared with conventional therapy alone. Four more RCTs reported that subjects who received acupuncture experienced significant effects compared with subjects who were waitlisted or received no treatment. The results of these studies provide mixed evidence of acupuncture’s effectiveness as a treatment for ASD symptoms.
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9. Marschik PB, Einspieler C, Sigafoos J. {{Contributing to the early detection of Rett syndrome: The potential role of auditory Gestalt perception}}. {Res Dev Disabil};2011 (Nov 22);33(2):461-466.
To assess whether there are qualitatively deviant characteristics in the early vocalizations of children with Rett syndrome, we had 400 native Austrian-German speakers listen to audio recordings of vocalizations from typically developing girls and girls with Rett syndrome. The audio recordings were rated as (a) inconspicuous, (b) conspicuous or (c) not able to decide between (a) and (b). The results showed that participants were accurate in differentiating the vocalizations of typically developing children compared to children with Rett syndrome. However, the accuracy for rating verbal behaviors was dependent on the type of vocalization with greater accuracy for canonical babbling compared to cooing vocalizations. The results suggest a potential role for the use of rating child vocalizations for early detection of Rett syndrome. This is important because clinical criteria related to speech and language development remain important for early identification of Rett syndrome.
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10. Meeus B, Verstraeten A, Crosiers D, Engelborghs S, Van den Broeck M, Mattheijssens M, Peeters K, Corsmit E, Elinck E, Pickut B, Vandenberghe R, Cras P, De Deyn PP, Van Broeckhoven C, Theuns J. {{DLB and PDD: a role for mutations in dementia and Parkinson disease genes?}}. {Neurobiol Aging};2011 (Nov 25)
Based on the substantial overlap in clinical and pathological characteristics of dementia with Lewy bodies (DLB) and Parkinson disease with dementia (PDD) with Alzheimer disease (AD) and Parkinson disease (PD) we hypothesized that these disorders might share underlying genetic factors. The contribution of both sequence and copy number variants (CNVs) in known AD and PD genes to the genetic etiology of DLB and PDD however is currently unclear. Therefore, we performed a gene-based mutation analysis of all major AD and PD genes in 99 DLB and 75 PDD patients, including familial and sporadic forms, from Flanders, Belgium. Also, copy number variants in APP, SNCA, and PARK2 were determined. In the AD genes we detected proven pathogenic missense mutations in PSEN1 and PSEN2, and 2 novel missense variants in PSEN2 and MAPT. In the PD genes we identified 1 SNCA duplication, the LRRK2 R1441C founder mutation and 4 novel heterozygous missense variants with unknown pathogenicity. Our results suggest a contribution of established AD and PD genes to the genetic etiology of DLB and PDD though to a limited extent. They do support the hypothesis of a genetic overlap between members of the Lewy body disease spectrum, but additional genes still have to exist.
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11. Memari AH, Ziaee V, Beygi S, Moshayedi P, Mirfazeli FS. {{Overuse of psychotropic medications among children and adolescents with autism spectrum disorders: Perspective from a developing country}}. {Res Dev Disabil};2011 (Nov 24);33(2):563-569.
Psychopharmacotherapy can be an effective part of the treatment for individuals with autism spectrum disorders (ASDs). However debate continues over the potential benefits and costs of these treatments; additionally little is known about the pattern of psychotropic medication use in developing countries. We aimed to survey the use of psychotropic medication, their subcategories and its associations among a representative local sample of 345 Iranian pupils with ASDs. All required information about demographics as well as clinical and medication history of children was collected through interviews with the families. Overall, 80% of participants were currently using at least one psychotropic medication while, and up to 97% of the sample had at least one psychotropic medication claim during the last year. Antipsychotics were the most frequent medications (57.4%) while antidepressants were used by only a small proportion of participants (8.7%). Further analysis revealed no significant association between any psychotropic medication use on one hand and clinical and demographic characteristics on the other hand. Time differences, cross cultural variations, and also cost and availability of treatment options in developing countries are discussed as possible explanations for different patterns and more than expected rate of psychotropic medication use in pupils with ASD.
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12. Poon KK. {{Challenging behaviors among children with autism spectrum disorders and multiple disabilities attending special schools in Singapore}}. {Res Dev Disabil};2011 (Nov 25);33(2):578-582.
This study sought to understand the profile of and the factors which impact upon challenging behaviors among children with autism spectrum disorders (ASD) and multiple disabilities (MD). Teachers of 322 and 132 children with ASD and MD, respectively, attending special schools in Singapore, completed the Developmental Behavior Checklist, Teacher Version (DBC-T; Einfeld & Tonge, 1995). The findings suggest that children with ASD exhibit elevated levels of challenging behavior in all areas, relative to children with MD. Multiple regression analyses also indicate that diagnostic category was associated with all aspects of challenging behavior measured by the DBC-T. In addition, age was associated with only disruptive/antisocial behaviors in this study. Theoretical and practical implications were discussed.
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13. Schieve LA, Gonzalez V, Boulet SL, Visser SN, Rice CE, Braun KV, Boyle CA. {{Concurrent medical conditions and health care use and needs among children with learning and behavioral developmental disabilities, National Health Interview Survey, 2006-2010}}. {Res Dev Disabil};2011 (Nov 22);33(2):467-476.
Studies document various associated health risks for children with developmental disabilities (DDs). Further study is needed by disability type. Using the 2006-2010 National Health Interview Surveys, we assessed the prevalence of numerous medical conditions (e.g. asthma, frequent diarrhea/colitis, seizures), health care use measures (e.g. seeing a medical specialist and >9 office visits in past year), health impact measures (e.g. needing help with personal care), and selected indicators of unmet health needs (e.g. unable to afford needed prescription medications) among a nationally representative sample of children ages 3-17 years, with and without DDs. Children in four mutually exclusive developmental disability groups: autism (N=375), intellectual disability (ID) without autism (N=238); attention-deficit/hyperactivity disorder (ADHD) without autism or ID (N=2901); and learning disability (LD) or other developmental delay without ADHD, autism, or ID (N=1955); were compared to children without DDs (N=35,775) on each condition or health care measure of interest. Adjusted odds ratios (aORs) were calculated from weighted logistic regression models that accounted for the complex sample design. Prevalence estimates for most medical conditions examined were moderately to markedly higher for children in all four DD groups than children without DDs. Most differences were statistically significant after adjustment for child sex, age, race/ethnicity, and maternal education. Children in all DD groups also had significantly higher estimates for health care use, impact, and unmet needs measures than children without DDs. This study provides empirical evidence that children with DDs require increased pediatric and specialist services, both for their core functional deficits and concurrent medical conditions.
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14. Schwenck C, Mergenthaler J, Keller K, Zech J, Salehi S, Taurines R, Romanos M, Schecklmann M, Schneider W, Warnke A, Freitag CM. {{Empathy in children with autism and conduct disorder: group-specific profiles and developmental aspects}}. {J Child Psychol Psychiatry};2011 (Nov 26)
Background: A deficit in empathy is discussed to underlie difficulties in social interaction of children with autism spectrum disorder (ASD) and conduct disorder (CD). To date, no study has compared children with ASD and different subtypes of CD to describe disorder-specific empathy profiles in clinical samples. Furthermore, little is known about age influences on the development of empathic skills. The aim of the current study was to compare cognitive and emotional empathy in different age groups of children with ASD, CD with elevated or low callous-unemotional-traits (CU+ vs. CU-) and a matched control group (CG). Methods: Fifty-five boys with ASD, 36 boys with CD-CU+, 34 boys with CD-CU- and 67 controls were included. The study implemented three tasks on emotion recognition, perspective taking and emotional affection induced by another person’s situation. Multivariate Analysis of variance with the factors group and age (median split) including their interaction term was performed to describe disorder-specific profiles. Results: Empathy profiles showed differential impairment in children with ASD and CD-CU+. Boys with ASD were impaired in cognitive empathy while participants with CD-CU+ were impaired in emotional empathy. Children with CD-CU- did not differ from the CG. However, boys with CD-CU- were less emotionally reactive in response to film stimuli than children with ASD. Furthermore, we found strong age effects indicating an increase in cognitive and affective empathic skills beyond early infancy in all groups. Conclusions: In this study, distinct empathic profiles in children with ASD and CD-CU+ were found. Furthermore, the work demonstrates improvement of empathic skills throughout childhood and adolescence, which is comparable for individuals with psychiatric disorders and control children. These results yield implications for further research as well as for therapeutic interventions.
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15. Shih CH, Chang ML, Mohua Z. {{A three-dimensional object orientation detector assisting people with developmental disabilities to control their environmental stimulation through simple occupational activities with a Nintendo Wii Remote Controller}}. {Res Dev Disabil};2011 (Nov 23);33(2):484-489.
This study evaluated whether two people with developmental disabilities would be able to actively perform simple occupational activities to control their preferred environmental stimulation using a Nintendo Wii Remote Controller with a newly developed three-dimensional object orientation detection program (TDOODP, i.e. a new software program, which turns a Wii Remote Controller into a three-dimensional object orientation detector). An ABAB design, in which A represented the baseline and B represented intervention phases, was adopted in this study. The data shows that the performance of both participants has significantly increased (i.e. they perform more simple occupational activities to activate the control system to produce environmental stimulation) during the intervention phases. The practical and developmental implications of the findings are discussed.
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16. Spence S. {{Autism. Editorial}}. {Autism};2011 (Sep);15(5):523-525.
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17. Venuti P, de Falco S, Esposito G, Zaninelli M, Bornstein MH. {{Maternal functional speech to children: A comparison of autism spectrum disorder, Down syndrome, and typical development}}. {Res Dev Disabil};2011 (Nov 23);33(2):506-517.
Children with developmental disabilities benefit from their language environment as much as, or even more than, typically developing (TD) children, but maternal language directed to developmentally delayed children is an underinvestigated topic. The purposes of the present study were to compare maternal functional language directed to children with two developmental disabilities – autism spectrum disorder (ASD) and Down syndrome (DS) – with TD children and to investigate relations of maternal functional language with child language skills. Participants were 60 mothers and their children with TD (n=20), DS (n=20), or ASD (n=20). Children’s mean developmental age was 24.77 months (SD=8.47) and did not differ across the groups. Mother and child speech were studied during naturalistic play. We found (a) similarities in maternal functional language directed to the two groups of children with developmental disabilities compared to that directed to TD children and (b) a positive association between subcategories of information-salient speech and child mean length of utterance in TD dyads only. The clinical and developmental implications of these findings are discussed.
