1. Ecker C, Spooren W, Murphy D. {{Developing new pharmacotherapies for autism}}. {J Intern Med};2013 (Jul 19)
Developing new pharmacotherapies for autism spectrum disorder (ASD) is a challenge. ASD has a complex genetic architecture, several neurobiological phenotypes and multiple symptom domains. However new opportunities are emerging that could lead to the development of ‘targeted’ and individualized pharmacological interventions. Here, first we review these important new insights into the aetiology and neurobiology of ASD with particular focus on (i) genetic variants mediating synaptic structure and functioning and (ii) differences in brain anatomy, chemistry and connectivity in this condition. The characterization of the genotypic and phenotypic differences underlying ASD may in the future be invaluable for stratifying the large range of different individuals on the autism spectrum into genetically and/or biologically homogeneous subgroups that may respond to similar targeted interventions. Secondly, we propose a strategic framework for the development of targeted pharmacotherapies for ASD, which comprises several different stages in which research findings are translated into clinical applications. The establishment of animal models and cellular assays is important for developing and testing new pharmacological targets before initiating large-scale clinical trials. Finally, we present the European Autism Interventions – A Multicentre Study for Developing New Medications (EU-AIMS) Initiative, which was set up in the context of the EU Innovative Medicines Initiative as the first European platform for integrated translational research in ASD. The EU-AIMS Initiative consists of academic and industrial partners working in collaboration to deliver a more ‘personalized’ approach to diagnosing and treating ASD in the future. This article is protected by copyright. All rights reserved.
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2. Farach A, Farach LS, Paulino AC. {{Therapeutic challenges in treating patients with fragile X syndrome and neoplasia}}. {Pediatr Blood Cancer};2013 (Jul 20)
The administration of cytotoxic therapy to patients with fragile X syndrome (FXS) presents several unique therapeutic challenges. The existence of fragile sites poses a theoretical risk of tumorigenesis and potentially increased treatment associated toxicity, however, controversy exists. We review the 42 previously reported cases of neoplasia in patients with FXS and report two novel neoplasms in patients treated with radiation therapy or combined chemoradiation. Our experience suggests that radiation therapy can be delivered safely in these patients without an expectation for increased acute/sub-acute normal tissue toxicity; however, treatment requires specialized facilities with the resources to deliver this care safely. Pediatr Blood Cancer (c) 2013 Wiley Periodicals, Inc.
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3. Mulligan CK, Trauner DA. {{Incidence and Behavioral Correlates of Epileptiform Abnormalities in Autism Spectrum Disorders}}. {J Autism Dev Disord};2013 (Jul 20)
Autism spectrum disorders (ASD) are associated with an increased incidence of epilepsy and of epileptiform discharges on electroencephalograms. It is unknown whether epileptiform discharges correlate with symptoms of ASD. We completed a retrospective chart review of 101 patients with ASD who had overnight electroencephalograms. We looked for a relationship between epileptiform abnormalities and diagnosis, history of regression, communication skills, and other features associated with ASD. There was a higher incidence of epileptiform activity in children with stereotypies and aggressive behavior. The incidence of epileptiform abnormalities was significantly lower in Asperger’s compared with more severe forms of autism. Results suggest that increasing severity of autistic symptoms may be associated with higher likelihood of epileptiform abnormalities. Whether treatment alters outcome is unknown.
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4. Ritvo ER. {{Smiling Response, Stranger Anxiety, and Autistic Disorder}}. {J Autism Dev Disord};2013 (Jul 20)
