1. Downs J, Torode I, Wong K, Ellaway C, Elliott EJ, Izatt MT, Askin GN, McPhee BI, Cundy P, Leonard H. {{Surgical fusion of early onset severe scoliosis increases survival in Rett syndrome: a cohort study}}. {Dev Med Child Neurol};2015 (Dec 11)
AIM: Scoliosis is a common comorbidity in Rett syndrome and spinal fusion may be recommended if severe. We investigated the impact of spinal fusion on survival and risk of severe lower respiratory tract infection in Rett syndrome. METHOD: Data were ascertained from hospital medical records, the Australian Rett Syndrome Database, a longitudinal and population-based registry, and from the Australian Institute of Health and Welfare National Death Index database. Cox regression and generalized estimating equation models were used to estimate the effects of spinal surgery on survival and severe respiratory infection respectively in 140 females who developed severe scoliosis (Cobb angle >/=45 degrees ) before adulthood. RESULTS: After adjusting for mutation type and age of scoliosis onset, the rate of death was lower in the surgery group (hazard ratio [HR] 0.30, 95% confidence interval [CI] 0.12-0.74; p=0.009) compared to those without surgery. Rate of death was particularly reduced for those with early onset scoliosis (HR 0.17, 95% CI 0.06-0.52; p=0.002). There was some evidence to suggest that spinal fusion was associated with a reduction in risk of severe respiratory infection among those with early onset scoliosis (risk ratio 0.41, 95% CI 0.16-1.03; p=0.06). INTERPRETATION: With appropriate cautions, spinal fusion confers an advantage to life expectancy in Rett syndrome.
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2. Elizur SE, Dratviman-Storobinsky O, Derech-Haim S, Lebovitz O, Dor J, Orvieto R, Cohen Y. {{FMR6 may play a role in the pathogenesis of fragile X-associated premature ovarian insufficiency}}. {Gynecol Endocrinol};2015 (Dec 11):1-4.
The aim of this study was to evaluate whether long noncoding RNA accumulation play a role in the pathophysiology of fragile X-associated premature ovarian insufficiency (FXPOI). The study population consisted of 22 consecutive fragile X mental retardation 1 (FMR1) premutation carriers (CGGn 55-199 repeats) undergoing in vitro fertilization and pre-implantation genetic diagnosis (IVF-PGD) treatment. The control group consists of 11 patients, with <55 CGG repeats, undergoing IVF-ICSI for male factor infertility, matched by age, treated in the same period. After oocyte retrieval, granulosa cells from follicular fluid were washed and stored at -80 degrees C. RNA was transcribed to generate cDNA and the RNA levels were measured using RT-PCR. Transcripts levels in granulosa cells of long noncoding RNA's FMR4 and FMR6 were measured. In FMR1 premutation carriers there was a significant nonlinear association between the number of CGG repeats and the levels of FMR6 (p = 0.03), but not FMR4. The highest level of FMR6 was seen in women with mid-size CGG repeats (80-120). In addition, a significant negative linear correlation was observed between the number of oocytes retrieved and the RNA levels in granulosa cells of FMR6 (r = -0.53, p = 0.01) but not FMR4. Our study supports previous findings suggesting RNA toxic gain-of-function as one of the possible pathophysiologic mechanisms underlying FXPOI. Lien vers le texte intégral (Open Access ou abonnement)
3. Heaton P. {{Age Related Differences in Response to Music-Evoked Emotion Among Children and Adolescents with Autism Spectrum Disorders}}. {J Autism Dev Disord};2015 (Dec 11)
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4. Hiniker A, Rosenberg-Lee M, Menon V. {{Distinctive Role of Symbolic Number Sense in Mediating the Mathematical Abilities of Children with Autism}}. {J Autism Dev Disord};2015 (Dec 11)
Despite reports of mathematical talent in autism spectrum disorders (ASD), little is known about basic number processing abilities in affected children. We investigated number sense, the ability to rapidly assess quantity information, in 36 children with ASD and 61 typically developing controls. Numerical acuity was assessed using symbolic (Arabic numerals) as well as non-symbolic (dot array) formats. We found significant impairments in non-symbolic acuity in children with ASD, but symbolic acuity was intact. Symbolic acuity mediated the relationship between non-symbolic acuity and mathematical abilities only in children with ASD, indicating a distinctive role for symbolic number sense in the acquisition of mathematical proficiency in this group. Our findings suggest that symbolic systems may help children with ASD organize imprecise information.
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5. Humphreys P. {{What are the reasons for improved survival following spine fusion for severe scoliosis in Rett syndrome?}}. {Dev Med Child Neurol};2015 (Dec 11)
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6. Kinnear SH, Link BG, Ballan MS, Fischbach RL. {{Understanding the Experience of Stigma for Parents of Children with Autism Spectrum Disorder and the Role Stigma Plays in Families’ Lives}}. {J Autism Dev Disord};2015 (Dec 11)
Stigma is widely perceived in the lives of families with autism spectrum disorder (ASD) yet large, systematic studies have not been undertaken. Following Link and Phelan’s (Ann Rev Sociol 27:363-385, 2001) model, this study of 502 Simons Simplex Collection families details how different factors contribute to stigma and how each appears to increase the overall difficulty of raising a child with ASD. The model begins with the child’s behavioral symptoms and then specifies stigma processes of stereotyping, rejection, and exclusion. Autism behaviors contribute both to the difficulty families experience raising a child with autism and to the stigma processes associated with those behaviors. Stigma also plays a significant role (.282, p < .001) in predicting how difficult life is overall for parents.
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7. Loebel A, Brams M, Goldman RS, Silva R, Hernandez D, Deng L, Mankoski R, Findling RL. {{Lurasidone for the Treatment of Irritability Associated with Autistic Disorder}}. {J Autism Dev Disord};2015 (Dec 11)
The aim of this study was to evaluate the short-term efficacy and safety of lurasidone in treating irritability associated with autistic disorder. In this multicenter trial, outpatients age 6-17 years who met DSM-IV-TR criteria for autistic disorder, and who demonstrated irritability, agitation, and/or self-injurious behaviors were randomized to 6 weeks of double-blind treatment with lurasidone 20 mg/day (N = 50), 60 mg/day (N = 49), or placebo (N = 51). Efficacy measures included the Aberrant Behavior Checklist Irritability subscale (ABC-I, the primary endpoint) and the Clinical Global Impressions, Improvement (CGI-I) scale, and were analyzed using a likelihood-based mixed model for repeated measures. Least squares (LS) mean (standard error [SE]) improvement from baseline to Week 6 in the ABC-I was not significantly different for lurasidone 20 mg/day (-8.8 [1.5]) and lurasidone 60 mg/day (-9.4 [1.4]) versus placebo (-7.5 [1.5]; p = 0.55 and 0.36, respectively). CGI-I scores showed significantly greater LS mean [SE] improvement at Week 6 for lurasidone 20 mg/day versus placebo (2.8 [0.2] vs. 3.4 [0.2]; p = 0.035) but not for lurasidone 60 mg/day (3.1 [0.2]; p = 0.27). Discontinuation rates due to adverse events were: lurasidone 20 mg/day, 4.1 %; 60 mg/day, 3.9 %; and placebo, 8.2 %. Adverse events with an incidence >/=10 % (lurasidone combined, placebo) included vomiting (18.0, 4.1 %) and somnolence (12.0, 4.1 %). Modest changes were observed in weight and selected metabolic parameters. In this study, once-daily, fixed doses of 20 and 60 mg/day of lurasidone were not demonstrated to be efficacious compared to placebo for the short-term treatment of children and adolescents with moderate-to-severe irritability associated with autistic disorder.
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8. Milosavljevic B, Carter Leno V, Simonoff E, Baird G, Pickles A, Jones CR, Erskine C, Charman T, Happe F. {{Alexithymia in Adolescents with Autism Spectrum Disorder: Its Relationship to Internalising Difficulties, Sensory Modulation and Social Cognition}}. {J Autism Dev Disord};2015 (Dec 11)
Alexithymia is a personality trait frequently found in adults with autism spectrum disorder (ASD), and has been linked to impairments in emotion recognition and empathy. The presentation of alexithymia within ASD at younger ages remains unexplored, and was examined in the present study. Alexithymia rates were significantly elevated in ASD (55 %; 31/56 scoring above cut-off) versus non-ASD adolescents (16 %; 5/32 scoring above cut-off). Within individuals with ASD, alexithymia was associated with increased self-reported anxiety, parent-reported emotional difficulties, self-reported sensory processing atypicalities, and poorer emotion recognition, but was not associated with theory of mind ability. Overall, our results suggest that alexithymia is highly prevalent, and has selective cognitive correlates in young people with ASD.
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9. Sengupta K, Lobo L, Krishnamurthy V. {{Educational and Behavioral Interventions in Management of Autism Spectrum Disorder}}. {Indian J Pediatr};2015 (Dec 11)
The increasing prevalence of autism spectrum disorder (ASD) makes early recognition, evaluation and management an important task for pediatricians, physicians and other professionals caring for children. Educational interventions form the mainstay of management for children with autism spectrum disorder. Such interventions focus on improving social interaction, communication and challenging behaviors, thereby promoting learning and independence in children. This article provides an overview of educational and behavioral interventions in autism spectrum disorder, with special reference to challenges and feasible solutions in the Indian context. Articles were retrieved from various databases including Google Scholar, Medscape, Cochrane, PubMed using the search terms ‘autism spectrum disorder OR autism AND educational interventions’; ‘autism spectrum disorder OR autism, educational interventions AND India’ and ‘autism spectrum disorder OR autism AND India’. Reference lists from retrieved articles as well as websites of organizations working in this space in India were also searched. Extracted manuscripts were analysed for content related to various aspects of educational and behavioral interventions in autism spectrum disorder. Intervention models for autism spectrum disorder are based on various theoretical orientations and target specific deficits associated with the disorder. In addition, evidence-based principles for effective intervention are highlighted. In developing countries like India, access to interventions is a challenge and resources are limited. In such settings, the pediatrician’s or physician’s role is vital in supporting families choose programs that are evidence-based, target individual needs and result in improved outcomes.
