1. Akshoomoff N, Mattson SN, Grossfeld PD. {{Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q}}. {Genet Med};2014 (Jul 24)
Purpose:Jacobsen syndrome, also called the 11q terminal deletion disorder, is a contiguous gene disorder caused by the deletion of the end of the long arm of chromosome 11. Intellectual skills range from low average to severe/profound intellectual disability and usually correlate with deletion size. Comprehensive genotype/phenotype evaluations are limited, and little is known about specific behavioral characteristics associated with 11q terminal deletion disorder.Methods:In this prospective study, 17 patients with 11q terminal deletion disorder underwent cognitive and behavioral assessments. Deletion sizes were determined by array comparative genomic hybridization.Results:Deletion sizes ranged from 8.7 to 14.5 Mb across the patients. We found that 8 of 17 patients (47%) exhibited behavioral characteristics consistent with an autism spectrum disorder diagnosis. There was no correlation between deletion size and the presence of autism spectrum disorder, implicating at least one predisposing gene in the distal 8.7 Mb of 11q. The findings from three additional patients with autistic features and « atypical » distal 11q deletions led to the identification of an autism « critical region » in distal 11q containing four annotated genes including ARHGAP32 (also known as RICS), a gene encoding rho GTPase activating protein.Conclusion:Results from this study support early autism spectrum disorder screening for patients with 11q terminal deletion disorder and provide further molecular insights into the pathogenesis of autism spectrum disorder.Genet Med advance online publication 24 July 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.86.
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2. Eljamel MS. {{Brain PDD and PDT unlocking the mystery of malignant gliomas}}. {Photodiagnosis Photodyn Ther};2004 (Dec);1(4):303-310.
Malignant brain tumours (MBTs) have one of the worst outcomes of human cancers today and their incidence is on the increase. Current treatment failure is usually due to local recurrence of the tumour rather than distant metastasis. In the last three decades we have seen many novel and potentially effective treatment strategies rise rapidly to the rescue. Sadly, however, the majority of these approaches were not good enough to withstand the harsh reality of the sceptical gaze of the scientific eye or the stringent health economics of this millennium. PDD and PDT, however, is one of the few therapies fighting back and still standing today. The results of its randomised controlled trials are eagerly awaited. To date the literature suggests that both PDD and PDT significantly prolong the time to tumour progression, reduce local recurrence, increase radical resection and prolong overall survival of MBTs. PDD and PDT are well tolerated by patients and worthwhile pursuing.
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3. Gonzales HK, O’Reilly M, Lang R, Sigafoos J, Lancioni G, Kajian M, Kuhn M, Longino D, Rojeski L, Watkins L. {{Research involving anxiety in non-human primates has potential implications for the assessment and treatment of anxiety in autism spectrum disorder: A translational literature review}}. {Dev Neurorehabil};2014 (Jul 24):1-18.
Abstract Objective: The purpose of this translational review (i.e. moving from basic primate research toward possible human applications) was to summarize non-human primate literature on anxiety to inform the development of future assessments of anxiety in non-verbal individuals with autism spectrum disorder (ASD). Methods: Systematic searches of databases identified 67 studies that met inclusion criteria. Each study was analysed and summarised in terms of (a) strategies used to evoke anxiety, (b) non-verbal behavioural indicators of anxiety and (c) physiological indicators of anxiety. Results: Eighteen strategies were used to evoke anxiety, 48 non-verbal behavioural indicators and 17 physiological indicators of anxiety were measured. Conclusions: A number of the strategies used with non-human primates, if modified carefully, could be considered in the ongoing effort to study anxiety in individuals with ASD. Potential applications to the assessment of anxiety in humans with ASD are discussed.
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4. Halepoto DM, Al-Ayadhi LY, AA AS. {{Therapeutic use of hyperbaric oxygen therapy for children with autism spectrum disorder}}. {J Coll Physicians Surg Pak};2014 (Jul);24(7):508-514.
Autism spectrum disorder (ASD) is neurodevelopment disorder, characterized by impairment in social interaction, verbal and non-verbal communication and the presence of restricted and repetitive stereotyped behaviors. The condition manifests within the first 3 years of life and persists till adulthood. At present, the etiology of ASD is largely unknown, but genetic, environmental, immunological, and neurological factors are thought to play a role in the development of ASD. The prevalence of ASD has increased dramatically in the past few decades. According to current estimates from the United States Centers for Disease Control and Prevention (CDC) as many as 1 in 91 children have ASD in USA. Studies from the Middle East on this topic are limited. Autism in Saudi Arabia is slightly higher than reported in the developed countries. Hyperbaric oxygen therapy (HBOT) has been growing in popularity for the treatment of ASD over recent years. However, few studies of its effectiveness have been reported. This article reviews important publications regarding the physiologic and clinical influence of HBO on ASD. Several case series and randomized trials have all proposed that low pressure/ low oxygen concentration hyperbaric treatment can improve the clinical manifestations of autism.
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5. Key AP, Ibanez LV, Henderson HA, Warren Z, Messinger DS, Stone WL. {{Positive Affect Processing and Joint Attention in Infants at High Risk for Autism: An Exploratory Study}}. {J Autism Dev Disord};2014 (Jul 24)
Few behavioral indices of risk for autism spectrum disorders (ASD) are present before 12 months, and potential biomarkers remain largely unexamined. This prospective study of infant siblings of children with ASD (n = 16) and low-risk comparison infants (n = 15) examined group differences in event-related potentials (ERPs) indexing processing of facial positive affect (N290/P400, Nc) at 9 months and their relation to joint attention at 15 months. Group differences were most pronounced for subtle facial expressions, in that the low-risk group exhibited relatively longer processing (P400 latency) and greater attention resource allocation (Nc amplitude). Exploratory analyses found associations between ERP responses and later joint attention, suggesting that attention to positive affect cues may support the development of other social competencies.
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6. LaGasse AB. {{Effects of a Music Therapy Group Intervention on Enhancing Social Skills in Children with Autism}}. {J Music Ther};2014 (Jul 22)
BACKGROUND: Research indicates that music therapy can improve social behaviors and joint attention in children with Autism Spectrum Disorder (ASD); however, more research on the use of music therapy interventions for social skills is needed to determine the impact of group music therapy. OBJECTIVE: To examine the effects of a music therapy group intervention on eye gaze, joint attention, and communication in children with ASD. METHOD: Seventeen children, ages 6 to 9, with a diagnosis of ASD were randomly assigned to the music therapy group (MTG) or the no-music social skills group (SSG). Children participated in ten 50-minute group sessions over a period of 5 weeks. All group sessions were designed to target social skills. The Social Responsiveness Scale (SRS), the Autism Treatment Evaluation Checklist (ATEC), and video analysis of sessions were used to evaluate changes in social behavior. RESULTS: There were significant between-group differences for joint attention with peers and eye gaze towards persons, with participants in the MTG demonstrating greater gains. There were no significant between-group differences for initiation of communication, response to communication, or social withdraw/behaviors. There was a significant interaction between time and group for SRS scores, with improvements for the MTG but not the SSG. Scores on the ATEC did not differ over time between the MTG and SSG. CONCLUSIONS: The results of this study support further research on the use of music therapy group interventions for social skills in children with ASD. Statistical results demonstrate initial support for the use of music therapy social groups to develop joint attention.
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7. Lin SC, Margolis B, Yu SM, Adirim TA. {{The Role of Medical Home in Emergency Department Use for Children With Developmental Disabilities in the United States}}. {Pediatr Emerg Care};2014 (Jul 24)
OBJECTIVE: Children with developmental disabilities (DDs) have higher rates of emergency department use (EDU) than their typically developing peers do. This study sought to elucidate the relationship between EDU frequency and access to a comprehensive medical home for children with DD. METHODS: This study conducted multivariate logistic regression analysis on data from the 2005-2006 National Survey of Children with Special Health Care Needs to explore the association between EDU frequency among children with DD and medical home. RESULTS: Compared with children with DD reporting zero EDU, children with 3 or more EDU were less likely to report access to usual health care source (adjusted odds ratio [AOR], 0.63; 95% confidence interval [CI], 0.45-0.88). Moreover, children with DD who had 3 or more EDU were less likely to have clinicians who listen to parental concerns (AOR, 0.58; 95% CI, 0.45-0.76), demonstrate sensitivity toward family values and customs (AOR = 0.60, 95% CI = 0.46, 0.78), and build meaningful family partnerships (AOR, 0.69; 95% CI, 0.53-0.89). CONCLUSIONS: The study suggests that children with DD reporting 3 or more EDU per year would likely reduce their EDU by having access to usual source of primary care services and to clinicians with skills in building meaningful partnership with the parents. The inclusion of these medical home attributes in the adoption of patient-centered medical homes with the implementation of the Affordable Care Act presents a mechanism to improve care at lower cost as well as facilitate chronic disease management and coordination between emergency medicine and primary care physicians that may lead to reductions in EDU and unnecessary hospitalization.
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8. Matsuzaki J, Kagitani-Shimono K, Sugata H, Hirata M, Hanaie R, Nagatani F, Tachibana M, Tominaga K, Mohri I, Taniike M. {{Progressively increased m50 responses to repeated sounds in autism spectrum disorder with auditory hypersensitivity: a magnetoencephalographic study}}. {PLoS One};2014;9(7):e102599.
The aim of this study was to investigate the differential time-course responses of the auditory cortex to repeated auditory stimuli in children with autism spectrum disorder (ASD) showing auditory hypersensitivity. Auditory-evoked field values were obtained from 21 boys with ASD (12 with and 9 without auditory hypersensitivity) and 15 age-matched typically developing controls. M50 dipole moments were significantly increased during the time-course study only in the ASD with auditory hypersensitivity compared with those for the other two groups. The boys having ASD with auditory hypersensitivity also showed more prolonged response duration than those in the other two groups. The response duration was significantly related to the severity of auditory hypersensitivity. We propose that auditory hypersensitivity is associated with decreased inhibitory processing, possibly resulting from an abnormal sensory gating system or dysfunction of inhibitory interneurons.
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9. O’Brien J, Spencer J, Girges C, Johnston A, Hill H. {{Impaired perception of facial motion in autism spectrum disorder}}. {PLoS One};2014;9(7):e102173.
Facial motion is a special type of biological motion that transmits cues for socio-emotional communication and enables the discrimination of properties such as gender and identity. We used animated average faces to examine the ability of adults with autism spectrum disorders (ASD) to perceive facial motion. Participants completed increasingly difficult tasks involving the discrimination of (1) sequences of facial motion, (2) the identity of individuals based on their facial motion and (3) the gender of individuals. Stimuli were presented in both upright and upside-down orientations to test for the difference in inversion effects often found when comparing ASD with controls in face perception. The ASD group’s performance was impaired relative to the control group in all three tasks and unlike the control group, the individuals with ASD failed to show an inversion effect. These results point to a deficit in facial biological motion processing in people with autism, which we suggest is linked to deficits in lower level motion processing we have previously reported.
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10. Rabaneda LG, Robles-Lanuza E, Nieto-Gonzalez JL, Scholl FG. {{Neurexin Dysfunction in Adult Neurons Results in Autistic-like Behavior in Mice}}. {Cell Rep};2014 (Jul 24);8(2):338-346.
Autism spectrum disorders (ASDs) comprise a group of clinical phenotypes characterized by repetitive behavior and social and communication deficits. Autism is generally viewed as a neurodevelopmental disorder where insults during embryonic or early postnatal periods result in aberrant wiring and function of neuronal circuits. Neurexins are synaptic proteins associated with autism. Here, we generated transgenic betaNrx1DeltaC mice in which neurexin function is selectively impaired during late postnatal stages. Whole-cell recordings in cortical neurons show an impairment of glutamatergic synaptic transmission in the betaNrx1DeltaC mice. Importantly, mutant mice exhibit autism-related symptoms, such as increased self-grooming, deficits in social interactions, and altered interaction for nonsocial olfactory cues. The autistic-like phenotype of betaNrx1DeltaC mice can be reversed after removing the mutant protein in aged animals. The defects resulting from disruption of neurexin function after the completion of embryonic and early postnatal development suggest that functional impairment of mature circuits can trigger autism-related phenotypes.
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11. Sieron A, Kawczyk-Krupka A, Adamek M, Cebula W, Zieleznik W, Niepsuj K, Niepsuj G, Pietrusa A, Szygula M, Biniszkiewicz T, Mazur S, Malyszek J, Romanczyk A, Ledwon A, Frankiewicz A, Zybura A, Koczy E, Birkner B. {{Photodynamic diagnosis (PDD) and photodynamic therapy (PDT) in dermatology: « How we do it »}}. {Photodiagnosis Photodyn Ther};2006 (Jun);3(2):132-133.
In dermatology PDT has been proven to be effective in the treatment of actinic keratoses, basal cell carcinomas (BCC), Bowen’s disease, superficial squamous cell carcinomas (SCC).
