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. Cedars MI. {{In vitro fertilization and risk of autistic disorder and mental retardation}}. {JAMA};2013 (Jul 3);310(1):42-43.
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3. Del Rosario M, Gillespie-Lynch K, Johnson S, Sigman M, Hutman T. {{Parent-Reported Temperament Trajectories Among Infant Siblings of Children with Autism}}. {J Autism Dev Disord};2013 (Jul 3)
Temperament atypicalities have been documented in infancy and early development in children who develop autism spectrum disorders (ASD). The current study investigates whether there are differences in developmental trajectories of temperament between infants and toddlers with and without ASD. Parents of infant siblings of children with autism completed the Carey Temperament Scales about their child at 6, 12, 18, 24, and 36 months of age. Temperament trajectories of children with ASD reflected increases over time in activity level, and decreasing adaptability and approach behaviors relative to high-risk typically developing (TD) children. This study is the first to compare temperament trajectories between high-risk TD infants and infants subsequently diagnosed with ASD in the developmental window when overt symptoms of ASD first emerge.
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4. Flight MH. {{Neurological disorders: Loss of MECP2 bridge in Rett}}. {Nat Rev Neurosci};2013 (Jul 3)
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5. Ghaleiha A, Mohammadi E, Mohammadi MR, Farokhnia M, Modabbernia A, Yekehtaz H, Ashrafi M, Hassanzadeh E, Akhondzadeh S. {{Riluzole as an Adjunctive Therapy to Risperidone for the Treatment of Irritability in Children with Autistic Disorder: A Double-Blind, Placebo-Controlled, Randomized Trial}}. {Paediatr Drugs};2013 (Jul 3)
BACKGROUND: A hyperglutamatergic state has been shown to play a possible role in the pathophysiology of autistic disorders. Riluzole is a glutamate-modulating agent with neuroprotective properties, which has been shown to have positive effects in many neuropsychiatric disorders. OBJECTIVE: The aim of this study was to assess the efficacy and tolerability of riluzole as an adjunctive to risperidone in the treatment of irritability in autistic children who were not optimally responding to previous medications. STUDY DESIGN: This was a 10-week, randomized, double-blind, parallel-group, placebo-controlled trial. PARTICIPANTS: The study enrolled male and female outpatients aged 5-12 years with a diagnosis of autistic disorder based on the DSM-IV-TR criteria and a score of >/=12 on the Aberrant Behavior Checklist-Community (ABC-C) irritability subscale who had discontinued other medications because of a lack of efficacy. INTERVENTIONS: Subjects received riluzole (titrated to 50 or 100 mg/day based on bodyweight) or placebo in addition to risperidone (titrated up to 2 or 3 mg/day based on bodyweight) for 10 weeks. OUTCOME: Patients were assessed at baseline, week 5, and week 10. The primary outcome measure was the difference in the change in the ABC-C irritability subscale score from baseline to week 10 between the two groups. We also compared changes in other ABC-C subscale scores and Clinical Global Impressions-Improvement (CGI-I) scale scores between the two groups. RESULTS: Forty-nine patients were enrolled in the study, and forty children completed the trial (dropouts: placebo = 4, riluzole = 5). A significantly greater improvement in the study primary outcome (the ABC-C irritability subscale score) was achieved by the riluzole-treated children compared with the placebo group (P = 0.03). Patients in the riluzole group also showed significantly greater improvement on the lethargy/social withdrawal (P = 0.02), stereotypic behavior (P = 0.03), and hyperactivity/non-compliance subscales (P = 0.005), but not on the inappropriate speech subscale (P = 0.20) than patients in the placebo group. Eleven patients in the riluzole group and five patients in the placebo group were classified as responders based on their CGI-I scores [chi2(1) = 3.750, P = 0.05]. Children in the riluzole group experienced significantly more increases in their appetite and bodyweight than children in the placebo group by the end of the study. CONCLUSION: Riluzole add-on therapy shows several therapeutic outcomes, particularly for improving irritability, in children with autism. However, its add-on to risperidone also results in significantly increased appetite and weight gain.
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6. 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.
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7. Patriquin MA, Lorenzi J, Scarpa A. {{Relationship Between Respiratory Sinus Arrhythmia, Heart Period, and Caregiver-Reported Language and Cognitive Delays in Children with Autism Spectrum Disorders}}. {Appl Psychophysiol Biofeedback};2013 (Jul 3)
The present study examines the relationship between autonomic activity and cognitive/language delays in children with autism spectrum disorder (ASD). Baseline levels of respiratory sinus arrhythmia (RSA) and heart period (HP) were assessed in 23 4-7-year old children diagnosed with ASD. The relationship between RSA, HP, and ASD behavioral symptoms was examined. Similar to prior studies on typically developing children, lower basal RSA was related to more caregiver-reported language and cognitive delays, and to the lack of language.
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8. Sandin S, Nygren KG, Iliadou A, Hultman CM, Reichenberg A. {{Autism and mental retardation among offspring born after in vitro fertilization}}. {JAMA};2013 (Jul 3);310(1):75-84.
IMPORTANCE: Between 1978 and 2010, approximately 5 million infants were born after in vitro fertilization (IVF) treatments. Yet limited information on neurodevelopment after IVF exists, especially after the first year of life. OBJECTIVE: To examine the association between use of any IVF and different IVF procedures and the risk of autistic disorder and mental retardation in the offspring. DESIGN, SETTING, AND PARTICIPANTS: A population-based, prospective cohort study using Swedish national health registers. Offspring born between 1982 and 2007 were followed up for a clinical diagnosis of autistic disorder or mental retardation until December 31, 2009. The exposure of interest was IVF, categorized according to whether intracytoplasmic sperm injection (ICSI) for male infertility was used and whether embryos were fresh or frozen. For ICSI, whether sperm were ejaculated or surgically extracted was also considered. MAIN OUTCOMES AND MEASURES: Relative risks (RRs) for autistic disorder and mental retardation and rates per 100,000 person-years, comparing spontaneously conceived offspring with those born after an IVF procedure and comparing 5 IVF procedures used in Sweden vs IVF without ICSI with fresh embryo transfer, the most common treatment. We also analyzed the subgroup restricted to singletons. RESULTS: Of the more than 2.5 million infants born, 30,959 (1.2%) were conceived by IVF and were followed up for a mean 10 (SD, 6) years. Overall, 103 of 6959 children (1.5%) with autistic disorder and 180 of 15,830 (1.1%) with mental retardation were conceived by IVF. The RR for autistic disorder after any procedure compared with spontaneous conception was 1.14 (95% CI, 0.94-1.39; 19.0 vs 15.6 per 100,000 person-years). The RR for mental retardation was 1.18 (95% CI, 1.01-1.36; 46.3 vs 39.8 per 100,000 person-years). For both outcomes, there was no statistically significant association when restricting analysis to singletons. Compared with IVF without ICSI with fresh embryo transfer, there were statistically significantly increased risks of autistic disorder following ICSI using surgically extracted sperm and fresh embryos (RR, 4.60 [95% CI, 2.14-9.88]; 135.7 vs 29.3 per 100,000 person-years); for mental retardation following ICSI using surgically extracted sperm and fresh embryos (RR, 2.35 [95% CI, 1.01-5.45]; 144.1 vs 60.8 per 100,000 person-years); and following ICSI using ejaculated sperm and fresh embryos (RR, 1.47 [95% CI, 1.03-2.09]; 90.6 vs 60.8 per 100,000 person-years). When restricting the analysis to singletons, the risks of autistic disorder associated with ICSI using surgically extracted sperm were not statistically significant, but the risks associated with ICSI using frozen embryos were significant for mental retardation (with frozen embryos, RR, 2.36 [95% CI, 1.04-5.36], 118.4 vs 50.6 per 100,000 person-years]; with fresh embryos, RR, 1.60 [95% CI, 1.00-2.57], 80.0 vs 50.6 per 100,000 person-years). CONCLUSIONS AND RELEVANCE: Compared with spontaneous conception, IVF treatment overall was not associated with autistic disorder but was associated with a small but statistically significantly increased risk of mental retardation. For specific procedures, IVF with ICSI for paternal infertility was associated with a small increase in the RR for autistic disorder and mental retardation compared with IVF without ICSI. The prevalence of these disorders was low, and the increase in absolute risk associated with IVF was small.
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9. Shimada S, Okamoto N, Nomura S, Fukui M, Shimakawa S, Sangu N, Shimojima K, Osawa M, Yamamoto T. {{Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism}}. {Am J Med Genet A};2013 (Jul 4)
We observed a patient with a Saethre-Chotzen-like phenotype with severe neurological features. Saethre-Chotzen syndrome (acrocephalosyndactyly type III; SCS; OMIM #101400) is an autosomal dominant craniosynostosis syndrome characterized by craniofacial and mild limb abnormalities. The phenotypic features of chromosomal microdeletions involving the 7p21.1, where the twist homolog 1 gene (TWIST1) responsible for SCS is located, are recognized as a contiguous gene deletion syndrome with SCS and other phenotypic manifestations. In this study, we identified microdeletions in 4q13.2 and 7p21.1 in a patient with SCS and severe neurological features including developmental delay and autistic behavior. In comparison to other SCS patients with intragenic mutations or small deletions in 7p21.1, neurological features seen in this patient were extremely severe, likely modified by a concurrent deletion of 4q13.2. Both microdeletions were de novo and paternal in origin. Further information on such concurrent chromosomal deletions should be accumulated for better understanding of the mechanism. (c) 2013 Wiley Periodicals, Inc.
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10. van Rijn S, Stockmann L, Borghgraef M, Bruining H, van Ravenswaaij-Arts C, Govaerts L, Hansson K, Swaab H. {{The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder}}. {J Autism Dev Disord};2013 (Jul 4)
The present study aimed to gain more insight in the social behavioral phenotype, and related autistic symptomatology, of children with an extra X chromosome in comparison to children with ASD. Participants included 60 children with an extra X chromosome (34 boys with Klinefelter syndrome and 26 girls with Trisomy X), 58 children with ASD and 106 controls, aged 9 to 18 years. We used the Autism Diagnostic Interview, Social Responsiveness Scale, Social Anxiety Scale and Social Skills Rating System. In the extra X group, levels of social dysfunction and autism symptoms were increased, being in between controls and ASD. In contrast to the ASD group, the extra X group showed increased social anxiety. The effects were similar for boys and girls with an extra X chromosome.
