1. Bagasra O, Golkar Z, Garcia M, Rice LN, Pace DG. {{Role of perfumes in pathogenesis of Autism}}. {Med Hypotheses};2013 (Apr 8)
Autism spectrum disorders (ASDs) are developmental conditions characterized by deficits in social interaction, verbal and nonverbal communication, and obsessive/stereotyped patterns of behavior. Although there is no reliable neurophysiological marker associated with ASDs, dysfunction of the parieto-frontal mirror neuron system and underdeveloped olfactory bulb (OB) has been associated with the disorder. It has been reported that the number of children who have ASD has increased considerably since the early 1990s. In developed countries, it is now reported that 1-1.5% of children have ASD, and in the US it is estimated that one in 88 children suffer from ASD. Currently, there is no known cause for ASD. During the last three decades, the most commonly accepted paradigm about autism is that it is a genetically inherited disease. The recent trio analyses, in which both biological parents and the autistic child’s exomes are sequenced, do not support this paradigm. On the other hand, the environmental factors that may induce genetic mutations in vitro have not been clearly identified, and there is little irrefutable evidence that pesticides, water born chemicals, or food preservatives play critical roles in inducing the genetic mutations associated with known intellectual deficiencies that have been linked to autism spectrum disorder (ASD). Here, we hypothesize and provide scientific evidence that ASD is the result of exposure to perfumes and cosmetics. The highly mutagenic, neurotoxic, and neuromodulatory chemicals found in perfumes are often overlooked and ignored as a result of a giant loophole in the Federal Fair Packaging and Labeling Act of 1973, which explicitly exempts fragrance producers from having to disclose perfume ingredients on product labels. We hypothesize that perfumes and cosmetics may be important factors in the pathogenesis of ASD. Synthetic perfumes have gained global utility not only as perfumes but also as essential chemicals in detergents, cosmetics, soap, and a wide variety of commonly used items, even in food flavoring to enhance product taste. Here we provide evidence that a majority of perfumes are highly mutagenic at femtomolar concentrations, and cause significant neuromodulations in human neuroblastoma cells at extremely low levels of concentration, levels that are expected to reach a developing fetal brain if the pregnant mothers are exposed to these chemicals.
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2. Demurie E, Roeyers H, Baeyens D, Sonuga-Barke E. {{Domain-general and domain-specific aspects of temporal discounting in children with ADHD and autism spectrum disorders (ASD): A proof of concept study}}. {Res Dev Disabil};2013 (Apr 8);34(6):1870-1880.
It has been shown that delayed consumable rewards are discounted to a higher degree than money, which has been referred to as the « domain effect ». Until now the effects of reward type on temporal discounting (TD) have mainly been studied in adults. Although there is evidence that children with attention-deficit/hyperactivity disorder (ADHD) tend to show steeper TD of money than typically developing peers or children with autism spectrum disorders (ASD), it remains untested whether the domain effect is also seen in children with ADHD and ASD. To explore this we compared TD of children (8-16 year) with ADHD, ASD and typically developing controls with five different reward types. Seventy-two participants with ADHD, 69 with ASD and 130 controls performed two hypothetical TD-tasks: a monetary TD-task and a TD-task with one of four alternative rewards (material rewards, rewarding activities, food, social rewards). TD was seen for all reward types, but the rate of discounting was steeper for food, praise and rewarding activities compared to money, and for food and praise compared to material rewards. For the ADHD and control groups, but not the ASD group, money and material rewards were equally highly discounted. High correlations between TD of money and of activities, food and material rewards were found. In conclusion, a domain effect was observed in typically developing children, as well as in children with ADHD or ASD, although the pattern was somewhat different for ASD children. Despite this domain effect, there is also evidence for a domain-general aspect in TD.
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3. Erickson LC, Scott-Van Zeeland AA, Hamilton G, Lincoln A, Golomb BA. {{Erratum to: Brief Report: Approaches to P-MRS in Awake, Non-Sedated Children With and Without Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Apr 13)
We piloted a suite of approaches aimed to facilitate a successful series of up to four brain and muscle 31phosphorus-magnetic resonance spectroscopy scans performed in one session in 12 awake, non-sedated subjects (ages 6-18), 6 with autism spectrum disorders (ASD) and 6 controls. We targeted advance preparation, parental input, physical comfort, short scan protocols, allocation of extra time, and subject emotional support. One hundred percent of subjects completed at least one brain scan and one leg muscle scan: 42 of 46 attempted scans were completed (91 %), with failures dominated by exercise muscle scans (completed in 6/6 controls but 3/6 cases). One completed scan lacked usable data unrelated to subject/scan procedure (orthodonture affected a frontal brain scan). As a group, these methods provide a foundation for conduct and enhancement of future MR studies in pediatric subjects with ASD.
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4. Fitzpatrick P, Diorio R, Richardson MJ, Schmidt RC. {{Dynamical methods for evaluating the time-dependent unfolding of social coordination in children with autism}}. {Front Integr Neurosci};2013;7:21.
Children with Autism Spectrum Disorder (ASD) suffer from numerous impairments in social interaction that affect both their mental and bodily coordination with others. We explored here whether interpersonal motor coordination may be an important key for understanding the profound social problems of children with ASD. We employed a set of experimental techniques to evaluate not only traditional cognitive measures of social competence but also the dynamical structure of social coordination by using dynamical measures of social motor coordination and analyzing the time series records of behavior. Preliminary findings suggest that children with ASD were equivalent to typically developing children on many social performance outcome measures. However, significant relationships were found between cognitive social measures (e.g., intentionality) and dynamical social motor measures. In addition, we found that more perceptually-based measures of social coordination were not associated with social motor coordination. These findings suggest that social coordination may not be a unitary construct and point to the promise of this multi-method and process-oriented approach to analyzing social coordination as an important pathway for understanding ASD-specific social deficits.
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5. Harfterkamp M, Buitelaar JK, Minderaa RB, van de Loo-Neus G, van der Gaag RJ, Hoekstra PJ. {{Long-Term Treatment with Atomoxetine for Attention-Deficit/Hyperactivity Disorder Symptoms in Children and Adolescents with Autism Spectrum Disorder: An Open-Label Extension Study}}. {J Child Adolesc Psychopharmacol};2013 (Apr 11)
Abstract Objective: The efficacy and tolerability of long-term treatment with atomoxetine for symptoms of attention-deficit/hyperactivity disorder (ADHD) in children with autism spectrum disorder (ASD) has not been established. Methods: In this study, 88 patients 6-17 years of age, with ADHD and ASD, were treated with 1.2 mg/kg/day atomoxetine for 20 weeks as follow-up of an 8 week double-blind placebo-controlled period. Primary endpoint was the ADHD Rating Scale (ADHD-RS). Results: After 8 weeks of initial treatment, the mean total, inattention, and hyperactivity-impulsivity ADHD-RS further decreased significantly from 34.9 to 27.0 for the total ADHD-RS, from 18.3 to 14.5 for the ADHD-RS inattention subscale, and from 16.5 to 12.6 for the hyperactivity-impulsivity subscale. Adverse events were mild and tended to diminish over time during continued treatment, especially regarding nausea and fatigue. There were no serious adverse events. Conclusions: The results of the present analysis suggest that continued treatment with atomoxetine up to 28 weeks further improve ADHD symptoms in children and adolescents with ASD, while adverse events tend to subside. Future studies investigating the long-term efficacy of atomoxetine in children and adolescents with ASD should be randomized and placebo controlled. This study has been registered in ClinicalTrials.gov ( www.clinicaltrials.gov ) under registration number NCT00380692.
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6. Jallot N, Lemonnier E, Grandgeorge M. {{Autism spectrum disorders: Head circumference and body length at birth are both relative}}. {Acta Paediatr};2013 (Apr 13)
AIM: Although the body length and weight of an infant are related to head circumference, little research on ASDs has examined these factors. Our study compared the head circumferences of neonates who were later diagnosed with ASD with a control group. Additional comparisons on morphological disproportions at birth included the head circumference-to-height and head circumference-to-weight ratios. METHODS: We recruited 422 children with ASD and 153 typically developing children. Head circumference, body length and weight at birth were collected and standardized as percentile scores according to gestational age and gender. RESULTS: Our results revealed that genuine macrocephaly was significantly higher in children with other pervasive developmental disorders compared with the control group. This difference was not observed with regard to genuine microcephaly. Relative macrocephaly and relative microcephaly were significantly more frequent in children with autism disorder compared to the control group with regard to body length. CONCLUSIONS: The differences in relative macrocephaly and microcephaly, as well as in other parameters, between diagnostic subgroups, suggest that the presence of several neurological mechanisms plays a role in the later expression of different phenotypes. An increased head circumference-to-body length ratio in newborns may be a factor to follow that could be related to ASD. This article is protected by copyright. All rights reserved.
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7. Le Sourn-Bissaoui S, Aguert M, Girard P, Chevreuil C, Laval V. {{Emotional speech comprehension in children and adolescents with autism spectrum disorders}}. {J Commun Disord};2013 (Mar 28)
We examined the understanding of emotional speech by children and adolescents with autism spectrum disorders (ASD). We predicted that they would have difficulty understanding emotional speech, not because of an emotional prosody processing impairment but because of problems drawing appropriate inferences, especially in multiple-cue environments. Twenty-six children and adolescents with ASD and 26 typically developing controls performed a computerized task featuring emotional prosody, either embedded in a discrepant context or without any context at all. They must identify the speaker’s feeling. When the prosody was the sole cue, participants with ASD performed just as well as controls, relying on this cue to infer the speaker’s intention. When the prosody was embedded in a discrepant context, both ASD and TD participants exhibited a contextual bias and a negativity bias. However ASD participants relied less on the emotional prosody than the controls when it was positive. We discuss these findings with respect to executive function and intermodal processing. Learning outcomes: After reading this article, the reader should be able to (1) describe the ASD participants pragmatic impairments, (2) explain why ASD participants did not have an emotional prosody processing impairment, and (3) explain why ASD participants had difficulty inferring the speaker’s intention from emotional prosody in a discrepant situation.
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8. Marsh L, Pearson A, Ropar D, Hamilton A. {{Children with autism do not overimitate}}. {Curr Biol};2013 (Apr 8);23(7):R266-268.
Copying the behaviour of others is important for forming social bonds with other people and for learning about the world [1]. After seeing an actor demonstrate actions on a novel object, typically developing (TD) children faithfully copy both necessary and visibly unnecessary actions [2]. This ‘overimitation’ is commonly described in terms of learning about the object, but may also reflect a social process such as the child’s motivation to affiliate with the demonstrator [3] or to conform to perceived norms [4]. Previous studies of overimitation do not separate object learning and social imitation because they use novel objects. Even though researchers consider these objects to be causally transparent in their mechanism, young children’s causal reasoning about novel objects is unclear [4]. The present study measures the social component of overimitation by using familiar objects, which preclude the learning component of the task. Here we report a significant reduction in overimitation in children with autism spectrum conditions (ASC). This is coherent with reports that these children have profound difficulties with social engagement [5] and do not spontaneously imitate action style [6] (see also [7]).
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9. Marshall J, Hill RJ, Dodrill P. {{A survey of practice for clinicians working with children with autism spectrum disorders and feeding difficulties}}. {Int J Speech Lang Pathol};2013 (Apr 12)
The aim of this study was to document information from allied health clinicians about children on their caseload with autism spectrum disorders and feeding difficulties. An electronic survey was disseminated to clinicians working with this group around Australia, where 150 responses were returned and 96 were able to be analysed. Variability in responses was observed for service delivery models, frequency of input, referral reasons, and intervention choices. The majority of respondents identified limited-to-average knowledge of feeding therapy options for this population. Clinician confidence was significantly correlated with perceived therapy success. Results of the survey suggest a need for clinical guidelines in the area to direct practice. Low levels of clinician confidence and perceived therapy success also highlight a need for ongoing research and training.
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10. Pini G, Bigoni S, Engerstrom IW, Calabrese O, Felloni B, Scusa MF, Di Marco P, Borelli P, Bonuccelli U, Julu PO, Nielsen JB, Morin B, Hansen S, Gobbi G, Visconti P, Pintaudi M, Edvige V, Romanelli A, Bianchi F, Casarano M, Battini R, Cioni G, Ariani F, Renieri A, Benincasa A, Delamont RS, Zappella M. {{Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases}}. {Neuropediatrics};2013 (Apr 11)
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11. Siniscalco D, Sapone A, Giordano C, Cirillo A, de Magistris L, Rossi F, Fasano A, Bradstreet JJ, Maione S, Antonucci N. {{Cannabinoid Receptor Type 2, but not Type 1, is Up-Regulated in Peripheral Blood Mononuclear Cells of Children Affected by Autistic Disorders}}. {J Autism Dev Disord};2013 (Apr 13)
Autistic disorders (ADs) are heterogeneous neurodevelopmental disorders arised by the interaction of genes and environmental factors. Dysfunctions in social interaction and communication skills, repetitive and stereotypic verbal and non-verbal behaviours are common features of ADs. There are no defined mechanisms of pathogenesis, rendering curative therapy very difficult. Indeed, the treatments for autism presently available can be divided into behavioural, nutritional and medical approaches, although no defined standard approach exists. Autistic children display immune system dysregulation and show an altered immune response of peripheral blood mononuclear cells (PBMCs). In this study, we investigated the involvement of cannabinoid system in PBMCs from autistic children compared to age-matched normal healthy developing controls (age ranging 3-9 years; mean age: 6.06 +/- 1.52 vs. 6.14 +/- 1.39 in autistic children and healthy subjects, respectively). The mRNA level for cannabinoid receptor type 2 (CB2) was significantly increased in AD-PBMCs as compared to healthy subjects (mean +/- SE of arbitrary units: 0.34 +/- 0.03 vs. 0.23 +/- 0.02 in autistic children and healthy subjects, respectively), whereas CB1 and fatty acid amide hydrolase mRNA levels were unchanged. mRNA levels of N-acylphosphatidylethanolamine-hydrolyzing phospholipase D gene were slightly decreased. Protein levels of CB-2 were also significantly increased in autistic children (mean +/- SE of arbitrary units: 33.5 +/- 1.32 vs. 6.70 +/- 1.25 in autistic children and healthy subjects, respectively). Our data indicate CB2 receptor as potential therapeutic target for the pharmacological management of the autism care.
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12. Talbott MR, Nelson CA, Tager-Flusberg H. {{Maternal Gesture Use and Language Development in Infant Siblings of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Apr 13)
Impairments in language and communication are an early-appearing feature of autism spectrum disorders (ASD), with delays in language and gesture evident as early as the first year of life. Research with typically developing populations highlights the importance of both infant and maternal gesture use in infants’ early language development. The current study explores the gesture production of infants at risk for autism and their mothers at 12 months of age, and the association between these early maternal and infant gestures and between these early gestures and infants’ language at 18 months. Gestures were scored from both a caregiver-infant interaction (both infants and mothers) and from a semi-structured task (infants only). Mothers of non-diagnosed high risk infant siblings gestured more frequently than mothers of low risk infants. Infant and maternal gesture use at 12 months was associated with infants’ language scores at 18 months in both low risk and non-diagnosed high risk infants. These results demonstrate the impact of risk status on maternal behavior and the importance of considering the role of social and contextual factors on the language development of infants at risk for autism. Results from the subset of infants who meet preliminary criteria for ASD are also discussed.
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13. Thabet EM, Zaghloul HS. {{Auditory profile and high resolution CT scan in autism spectrum disorders children with auditory hypersensitivity}}. {Eur Arch Otorhinolaryngol};2013 (Apr 12)
Autism is the third most common developmental disorder, following mental retardationand cerebral palsy. ASD children have been described more often as beingpreoccupied with or agitated by noise. The aim of this study was to evaluate theprevalence and clinical significance of semicircular canal dehiscence detected on CTimages in ASD children with intolerance to loud sounds in an attempt to find ananatomical correlate with hyperacusis.14 ASD children with auditory hypersensitivity and 15 ASD children without auditoryhypersensitivity as control group age and gender matched were submitted to historytaking, otological examination, tympanometry and acoustic reflex thresholdmeasurement. ABR was done to validate normal peripheral hearing and integrity ofauditory brain stem pathway. High resolution CT scan petrous and temporal boneimaging was performed to all participated children. All participants had normal hearingsensitivity in ABR testing. Absolute ABR peak waves of I and III showed no statisticallysignificant difference between the two groups, while absolute wave V peak andinterpeak latencies I-V and III-V were shorter in duration in study group whencompared to the control group. CT scans revealed SSCD in 4 out of 14 of the studygroup (29 %), the dehiscence was bilateral in one patient and unilateral in threepatients. None of control group showed SSCD. In conclusion, we have reportedevidence that apparent hypersensitivity to auditory stimuli (short conduction time in ABR) despite the normal physiological measures in ASD children with auditoryhypersensitivity can provide a clinical clue of a possible SSCD.
