1. {{Autism}}. {Nurs Stand};2014 (Mar 12);28(28):19.
Essential facts Autism is a lifelong developmental disability that affects how individuals communicate with and relate to other people and the world around them. Autism is known as a spectrum condition because the symptoms vary from person to person and range from mild to severe. According to the National Autistic Society, autism affects around one in 100 people.
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2. Becker JA, Clesse D, Spiegelhalter C, Schwab Y, Le Merrer J, Kieffer BL. {{Autistic-Like Syndrome in mu Opioid Receptor Null Mice is Relieved by Facilitated mGluR4 Activity}}. {Neuropsychopharmacology};2014 (Mar 12)
The etiology of Autism Spectrum Disorders (ASDs) remains largely unknown. Identifying vulnerability genes for autism represents a major challenge in the field, and allows the development of animal models for translational research. Mice lacking the mu opioid receptor gene (Oprm1-/-) were recently proposed as a monogenic mouse model of autism, based on severe deficits in social behavior and communication skills. We confirm this hypothesis by showing that adult Oprm1-/- animals recapitulate core and multiple comorbid behavioral symptoms of autism, and also display anatomical, neurochemical and genetic landmarks of the disease. Chronic facilitation of mGluR4 signaling, which we identified as a novel pharmacological target in ASDs in these mice, was more efficient in alleviating behavioral deficits than the reference molecule risperidone. Altogether, our data provide first evidence that disrupted mu opioid receptor signalling is sufficient to trigger a comprehensive autistic syndrome, maybe through blunted social reward processes, and this mouse model opens promising avenues for therapeutic innovation.Neuropsychopharmacology accepted article preview online, 12 March 2014; doi:10.1038/npp.2014.59.
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3. Carson AM, Salowitz NM, Scheidt RA, Dolan BK, Van Hecke AV. {{Electroencephalogram Coherence in Children With and Without Autism Spectrum Disorders: Decreased Interhemispheric Connectivity in Autism}}. {Autism Res};2014 (Mar 12)
Electroencephalogram coherence was measured in children with autism spectrum disorders (ASD) and control children at baseline and while watching videos of a familiar and unfamiliar person reading a story. Coherence was measured between the left and right hemispheres of the frontal, parietal, and temporal-parietal lobes (interhemispheric) and between the frontal and parietal lobes in each hemisphere (intrahemispheric). A data-reduction technique was employed to identify the frequency (alpha) that yielded significant differences in video conditions. Children with ASD displayed reduced coherence at the alpha frequency between the left and right temporal-parietal lobes in all conditions and reduced coherence at the alpha frequency between left and right frontal lobes during baseline. No group differences in intrahemispheric coherence at the alpha frequency emerged at the chosen statistical threshold. Results suggest decreased interhemispheric connectivity in frontal and temporal-parietal regions in children with ASD compared to controls. Autism Res 2014, : -. (c) 2014 International Society for Autism Research, Wiley Periodicals, Inc.
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4. Han DH, Yoo HJ, Kim BN, McMahon W, Renshaw PF. {{Brain activity of adolescents with high functioning autism in response to emotional words and facial emoticons}}. {PLoS One};2014;9(3):e91214.
Studies of social dysfunction in patients with autism spectrum disorder (ASD) have generally focused on the perception of emotional words and facial affect. Brain imaging studies have suggested that the fusiform gyrus is associated with both the comprehension of language and face recognition. We hypothesized that patients with ASD would have decreased ability to recognize affect via emotional words and facial emoticons, relative to healthy comparison subjects. In addition, we expected that this decreased ability would be associated with altered activity of the fusiform gyrus in patients with ASD. Ten male adolescents with ASDs and ten age and sex matched healthy comparison subjects were enrolled in this case-control study. The diagnosis of autism was further evaluated with the Autism Diagnostic Observation Schedule. Brain activity was assessed using functional magnetic resonance imaging (fMRI) in response to emotional words and facial emoticon presentation. Sixty emotional words (45 pleasant words +15 unpleasant words) were extracted from a report on Korean emotional terms and their underlying dimensions. Sixty emoticon faces (45 pleasant faces +15 unpleasant faces) were extracted and modified from on-line sites. Relative to healthy comparison subjects, patients with ASD have increased activation of fusiform gyrus in response to emotional aspects of words. In contrast, patients with ASD have decreased activation of fusiform gyrus in response to facial emoticons, relative to healthy comparison subjects. We suggest that patients with ASD are more familiar with word descriptions than facial expression as depictions of emotion.
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5. Khwaja OS, Ho E, Barnes KV, O’Leary HM, Pereira LM, Finkelstein Y, Nelson CA, 3rd, Vogel-Farley V, Degregorio G, Holm IA, Khatwa U, Kapur K, Alexander ME, Finnegan DM, Cantwell NG, Walco AC, Rappaport L, Gregas M, Fichorova RN, Shannon MW, Sur M, Kaufmann WE. {{Safety, pharmacokinetics, and preliminary assessment of efficacy of mecasermin (recombinant human IGF-1) for the treatment of Rett syndrome}}. {Proc Natl Acad Sci U S A};2014 (Mar 12)
Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder mainly affecting females and is associated with mutations in MECP2, the gene encoding methyl CpG-binding protein 2. Mouse models suggest that recombinant human insulin-like growth factor 1 (IGF-1) (rhIGF1) (mecasermin) may improve many clinical features. We evaluated the safety, tolerability, and pharmacokinetic profiles of IGF-1 in 12 girls with MECP2 mutations (9 with RTT). In addition, we performed a preliminary assessment of efficacy using automated cardiorespiratory measures, EEG, a set of RTT-oriented clinical assessments, and two standardized behavioral questionnaires. This phase 1 trial included a 4-wk multiple ascending dose (MAD) (40-120 mug/kg twice daily) period and a 20-wk open-label extension (OLE) at the maximum dose. Twelve subjects completed the MAD and 10 the entire study, without evidence of hypoglycemia or serious adverse events. Mecasermin reached the CNS compartment as evidenced by the increase in cerebrospinal fluid IGF-1 levels at the end of the MAD. The drug followed nonlinear kinetics, with greater distribution in the peripheral compartment. Cardiorespiratory measures showed that apnea improved during the OLE. Some neurobehavioral parameters, specifically measures of anxiety and mood also improved during the OLE. These improvements in mood and anxiety scores were supported by reversal of right frontal alpha band asymmetry on EEG, an index of anxiety and depression. Our data indicate that IGF-1 is safe and well tolerated in girls with RTT and, as demonstrated in preclinical studies, ameliorates certain breathing and behavioral abnormalities.
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6. Koehler AD, Fagnano M, Montes G, Halterman JS. {{Elevated Burden for Caregivers of Children with Persistent Asthma and a Developmental Disability}}. {Matern Child Health J};2014 (Mar 12)
To evaluate how having a child with both persistent asthma and a developmental disability (DD) affects caregiver burden and quality of life (QOL). 3-10 year old children with persistent asthma in urban Rochester, NY. Cross-sectional baseline survey (2006-2009). Parent report of autism spectrum disorder or other behavioral disorder requiring medication. Caregiver burden and QOL as measured by scores on previously validated depression, parenting confidence, and asthma-related QOL scales as well as an assessment of competing demands on the caregiver. Bivariate and multivariate regression analyses controlling for caregiver age, education, marital status, race, ethnicity, and child asthma symptom severity. We enrolled 530 children as part of a larger study (response rate: 74; 63 % Black, 73 % Medicaid). Of this sample, 70 children (13 %) were defined as having a DD. There were no differences in asthma symptom severity between children with and without a DD diagnosis. However, even after adjusting for potential confounders, caregivers of children with a DD reported worse scores on the depression (p = .003), parenting confidence (p < .001), and competing demands (p = .013) scales and worse asthma-related QOL (p = .035) compared to caregivers of typically developing children with asthma. Despite having similar asthma symptom severity, caregivers of children with both persistent asthma and a DD diagnosis report more burden and lower QOL compared to that of caregivers of typically developing children and persistent asthma. Further attention to this subgroup is needed to promote optimal support for caregivers.
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7. Stagg SD, Linnell KJ, Heaton P. {{Investigating eye movement patterns, language, and social ability in children with autism spectrum disorder}}. {Dev Psychopathol};2014 (Mar 12):1-9.
Although all intellectually high-functioning children with autism spectrum disorder (ASD) display core social and communication deficits, some develop language within a normative timescale and others experience significant delays and subsequent language impairment. Early attention to social stimuli plays an important role in the emergence of language, and reduced attention to faces has been documented in infants later diagnosed with ASD. We investigated the extent to which patterns of attention to social stimuli would differentiate early and late language onset groups. Children with ASD (mean age = 10 years) differing on language onset timing (late/normal) and a typically developing comparison group completed a task in which visual attention to interacting and noninteracting human figures was mapped using eye tracking. Correlations on visual attention data and results from tests measuring current social and language ability were conducted. Patterns of visual attention did not distinguish typically developing children and ASD children with normal language onset. Children with ASD and late language onset showed significantly reduced attention to salient social stimuli. Associations between current language ability and social attention were observed. Delay in language onset is associated with current language skills as well as with specific eye-tracking patterns.
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8. Strang JF, Kenworthy L, Dominska A, Sokoloff J, Kenealy LE, Berl M, Walsh K, Menvielle E, Slesaransky-Poe G, Kim KE, Luong-Tran C, Meagher H, Wallace GL. {{Increased Gender Variance in Autism Spectrum Disorders and Attention Deficit Hyperactivity Disorder}}. {Arch Sex Behav};2014 (Mar 12)
Evidence suggests over-representation of autism spectrum disorders (ASDs) and behavioral difficulties among people referred for gender issues, but rates of the wish to be the other gender (gender variance) among different neurodevelopmental disorders are unknown. This chart review study explored rates of gender variance as reported by parents on the Child Behavior Checklist (CBCL) in children with different neurodevelopmental disorders: ASD (N = 147, 24 females and 123 males), attention deficit hyperactivity disorder (ADHD; N = 126, 38 females and 88 males), or a medical neurodevelopmental disorder (N = 116, 57 females and 59 males), were compared with two non-referred groups [control sample (N = 165, 61 females and 104 males) and non-referred participants in the CBCL standardization sample (N = 1,605, 754 females and 851 males)]. Significantly greater proportions of participants with ASD (5.4 %) or ADHD (4.8 %) had parent reported gender variance than in the combined medical group (1.7 %) or non-referred comparison groups (0-0.7 %). As compared to non-referred comparisons, participants with ASD were 7.59 times more likely to express gender variance; participants with ADHD were 6.64 times more likely to express gender variance. The medical neurodevelopmental disorder group did not differ from non-referred samples in likelihood to express gender variance. Gender variance was related to elevated emotional symptoms in ADHD, but not in ASD. After accounting for sex ratio differences between the neurodevelopmental disorder and non-referred comparison groups, gender variance occurred equally in females and males.
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9. Takahashi H, Nakahachi T, Komatsu S, Ogino K, Iida Y, Kamio Y. {{Hyperreactivity to weak acoustic stimuli and prolonged acoustic startle latency in children with autism spectrum disorders}}. {Mol Autism};2014 (Mar 12);5(1):23.
BACKGROUND: People with autism spectrum disorders (ASD) are known to have enhanced auditory perception, however, acoustic startle response to weak stimuli has not been well documented in this population. The objectives of this study are to evaluate the basic profile of acoustic startle response, including peak startle latency and startle magnitude to weaker stimuli, in children with ASD and typical development (TD), and to evaluate their relationship to ASD characteristics. METHODS: We investigated acoustic startle response with weak and strong acoustic stimuli in 12 children with ASD and 28 children with TD, analyzing the relationship between startle measures and quantitative autistic traits assessed with the Social Responsiveness Scale (SRS). The electromyographic activity of the left orbicularis oculi muscle to acoustic stimuli of 65 to 115 dB sound pressure level (SPL), in increments of 5 dB, was measured to evaluate acoustic startle response. The average eyeblink magnitude for each acoustic stimuli intensity and the average peak startle latency of acoustic startle response were evaluated. RESULTS: The magnitude of the acoustic startle response to weak stimuli (85 dB or smaller) was greater in children with ASD. The peak startle latency was also prolonged in individuals with ASD. The average magnitude of the acoustic startle response for stimulus intensities greater than 85 dB was not significantly larger in the ASD group compared with the controls. Both greater startle magnitude in response to weak stimuli (particularly at 85 dB) and prolonged peak startle latency were significantly associated with total scores, as well as several subscales of the SRS in the whole sample. We also found a significant relationship between scores on the social cognition subscale of the SRS and the average magnitude of the acoustic startle response for stimulus intensities of 80 and 85 dB in the TD group. CONCLUSIONS: Children with ASD exhibited larger startle magnitude to weak stimuli and prolonged peak startle latency. These startle indices were related to several characteristics of ASD. A comprehensive investigation of acoustic startle response, including the magnitude of startle responses to weak stimuli and peak startle latency, might further our understanding of the neurophysiological impairments underlying ASD.
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10. Westmark CJ. {{Soy infant formula and seizures in children with autism: a retrospective study}}. {PLoS One};2014;9(3):e80488.
Seizures are a common phenotype in many neurodevelopmental disorders including fragile X syndrome, Down syndrome and autism. We hypothesized that phytoestrogens in soy-based infant formula were contributing to lower seizure threshold in these disorders. Herein, we evaluated the dependence of seizure incidence on infant formula in a population of autistic children. Medical record data were obtained on 1,949 autistic children from the SFARI Simplex Collection. An autism diagnosis was determined by scores on the ADI-R and ADOS exams. The database included data on infant formula use, seizure incidence, the specific type of seizure exhibited and IQ. Soy-based formula was utilized in 17.5% of the study population. Females comprised 13.4% of the subjects. There was a 2.6-fold higher rate of febrile seizures [4.2% versus 1.6%, OR = 2.6, 95% CI = 1.3-5.3], a 2.1-fold higher rate of epilepsy comorbidity [3.6% versus 1.7%, OR = 2.2, 95% CI = 1.1-4.7] and a 4-fold higher rate of simple partial seizures [1.2% versus 0.3%, OR = 4.8, 95% CI = 1.0-23] in the autistic children fed soy-based formula. No statistically significant associations were found with other outcomes including: IQ, age of seizure onset, infantile spasms and atonic, generalized tonic clonic, absence and complex partial seizures. Limitations of the study included: infant formula and seizure data were based on parental recall, there were significantly less female subjects, and there was lack of data regarding critical confounders such as the reasons the subjects used soy formula, age at which soy formula was initiated and the length of time on soy formula. Despite these limitations, our results suggest that the use of soy-based infant formula may be associated with febrile seizures in both genders and with a diagnosis of epilepsy in males in autistic children. Given the lack of data on critical confounders and the retrospective nature of the study, a prospective study is required to confirm the association.
