1. Alaghband-Rad J, Nikvarz N, Tehrani-Doost M, Ghaeli P. {{Memantine induced speech problem in two patients with autistic disorder}}. {Daru};2013 (Jul 2);21(1):54.
Stuttering is a complex speech disorder. There are two forms of stuttering: developmental stuttering and acquired stuttering. Developmental stuttering is a disorder of early childhood but acquired stuttering can develop at any age. Some medications can induce or deteriorate stuttering as an adverse effect. There are several reports of stuttering due to psychotropic drugs. Memantine, a glutamate antagonist used in the treatment of Alzheimer’s disease, has also been studied for the treatment of autism spectrum disorders. This report presents deterioration of stuttering and speech problem due to consumption of memantine in two children with autistic disorder. Based on our knowledge, this is the first time these adverse drug reactions have been attributed to memantine. In conclusion clinicians should consider that deterioration of stuttering or speech problem may be a side effect of memantine especially in children.
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2. Bellani M, Calderoni S, Muratori F, Brambilla P. {{Brain anatomy of autism spectrum disorders II. Focus on amygdala}}. {Epidemiol Psychiatr Sci};2013 (Jul 2):1-4.
This brief review encompasses the key findings of structural Magnetic Resonance Imaging (sMRI) research on amygdala volume in autism spectrum disorders (ASD). We also highlight the possible correlation between the autistic behavioural phenotype and amygdala alteration.
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3. Jolly LA, Homan C, Jacob R, Barry S, Gecz J. {{The UPF3B Gene, Implicated in Intellectual Disability, Autism, ADHD and Childhood Onset Schizophrenia Regulates Neural Progenitor Cell Behaviour and Neuronal Outgrowth}}. {Hum Mol Genet};2013 (Jul 2)
Loss of function mutations in UPF3B result in variable clinical presentations including intellectual disability (ID, syndromic and non-syndromic), autism, childhood onset schizophrenia and attention deficit hyperactivity disorder. UPF3B is a core member of the nonsense mediated mRNA decay (NMD) pathway that functions to rapidly degrade transcripts with premature termination codons (PTCs). Traditionally identified in thousands of human diseases, PTCs were recently also found to be part of ‘normal’ genetic variation in human populations. Furthermore, many human transcripts have naturally occurring regulatory features compatible with ‘endogenous’ PTCs strongly suggesting roles of NMD beyond PTC mRNA control. In this study, we investigated the role of Upf3b and NMD in neural cells. We provide evidence that suggests Upf3b dependent NMD (Upf3b-NMD) is regulated at multiple levels during development including regulation of expression and sub-cellular localisation of Upf3b. Furthermore complementary expression of Upf3b, Upf3a and Stau1 stratify the developing dorsal telencephalon, suggesting that alternative NMD, and the related Staufen1 mediated mRNA decay (SMD) pathways are differentially employed. Loss of Upf3b-NMD in neural progenitor cells resulted in the expansion of cell numbers at the expense of their differentiation. In primary hippocampal neurons loss of Upf3b-NMD resulted in subtle neurite growth effects. Our data suggest that the cellular consequences of loss of Upf3b-NMD can be explained in-part by changes in expression of key NMD-feature containing transcripts which are commonly deregulated also in patients with UPF3B mutations. Our research identifies novel pathological mechanisms of UPF3B mutations and at least partly explains the clinical phenotype of UPF3B patients.
