1. Mouti A, Reddihough D, Marraffa C, Hazell P, Wray J, Lee K, Kohn M. {{Fluoxetine for Autistic Behaviors (FAB trial): study protocol for a randomized controlled trial in children and adolescents with autism}}. {Trials};2014 (Jun 16);15(1):230.
BACKGROUND: Serotonin reuptake inhibitors (SSRIs) are commonly prescribed off-label for children with autism. To date, clinical trials examining the use of SSRIs in autism have been limited by small sample sizes and inconclusive results. The efficacy and safety of SSRIs for moderating autistic behaviors is yet to be adequately examined to provide evidence to support current clinical practice. The aim of the Fluoxetine for Autistic Behaviors (FAB) study is to determine the efficacy and safety of low dose fluoxetine compared with placebo, for reducing the frequency and severity of repetitive stereotypic behaviors in children and adolescents with an autism spectrum disorder (ASD). The relationship between the effectiveness of fluoxetine treatment and serotonin transporter genotype will also be explored. METHODS: The FAB study is a multicenter, double-blinded, randomized controlled trial, funded by the Australian Government’s National Health and Medical Research Council (NHMRC) grant. Participants will be aged between 7.5 and 17 years with a confirmed diagnosis of ASD. Eligible participants will be randomized to either placebo or fluoxetine for a 16-week period. Medication will be titrated over the first four weeks. Reponses to medication will be monitored fortnightly using the Clinical Global Impressions Scale (CGI). The primary outcome measure is the Children’s Yale-Brown Obsessive Compulsive Scale-Modified for Pervasive Developmental Disorders (CYBOCS-PDD), administered at baseline and 16 weeks. Secondary outcome measures include the Aberrant Behaviour Scale (ABC), the Spence Children’s Anxiety Scale Parent Report (SCAS-P), and the Repetitive Behaviors Scale (RBS-R), measured at baseline and 16 weeks. Participants will be invited to undergo genetic testing for SLC6A4 allele variants using a cheek swab. Continuous outcomes, including the primary outcome will be compared between the active and placebo groups using unadjusted linear regression. Binary outcomes will be compared using unadjusted logistic regression. DISCUSSION: The FAB study is a large clinical trial to specifically investigate the efficacy of low dose fluoxetine for restricted, repetitive, and stereotyped behaviors in ASD. The outcomes of this study will contribute to evidence-based interventions used in clinical practice to assist children with ASD.Trial registration: Australian and New Zealand Clinical Trials Registry ACTRN12608000173392; registered on 9 April, 2008.
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2. Meguid NA, Ismail MF, El-Mahdy RS, Barakat MA, El-Awady MK. {{Simple molecular diagnostic method for Fragile X syndrome in Egyptian patients: Pilot study}}. {Acta Biochim Pol};2014 (Jun 16)
Background: Poor knowledge about Fragile X syndrome (FXS) may be a major barrier to early diagnosis that could improve quality of life and prognosis especially in the developing countries. Aim: The aim of this study was to evaluate simple and reproducible method for premutation detection in females of fragile X families for the first time in Egypt. Subjects and Methods: We have developed a rapid modified polymerase chain reaction (PCR)-based screening tool for expanded Fragile X mental retardation 1 (FMR1) alleles. This method utilizes betaine as additive to facilitate FMR 1 gene amplification. We screened fifty three males, thirty two first-degree females; twenty normal healthy controls in addition to six reference samples. Results: Simple PCR method showed 16 males with abnormal CGG repeats, where 10 of their mothers and four sisters had FMR 1 premutation. Consanguineous marriage was present in 66.6% percent of the studied families. Studying the correlation between genotype and clinical manifestations showed premature ovarian failure in 40% and learning disability in 50% of the studied female carriers. Conclusion: FXS has to be ruled out in families with consanguineous parents, before assuming that familial mental retardation is due to autosomal recessive gene defects. Early carrier detection may reduce the number of affected children. In conclusion, more studies are still needed of much larger sample size with known allele sizes in order to guarantee the accuracy of the method used.
3. Logan SL, Carpenter L, Leslie RS, Hunt KS, Garrett-Mayer E, Charles J, Nicholas JS. {{Rates and Predictors of Adherence to Psychotropic Medications in Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2014 (Jun 15)
Medication adherence in children is poor, particularly among those with chronic or mental health disorders. However, adherence has not been fully assessed in autism spectrum disorders (ASDs). The validated proportion of days covered method was used to quantify adherence to psychotropic medication in Medicaid-eligible children who met diagnostic criteria for ASD between 2000 and 2008 (N = 628). Among children prescribed attention deficit hyperactivity disorder (ADHD) medications, antidepressants, or antipsychotics, 44, 40 and 52 % were adherent respectively. Aggressive behaviors and abnormalities in eating, drinking, and/or sleeping, co-occurring ADHD, and the Medication Regimen Complexity Index were the most significant predictors of adherence rather than demographics or core deficits of ASD. Identifying barriers to adherence in ASD may ultimately lead to improved treatment outcomes.
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4. Konst MJ, Matson JL, Goldin R, Rieske R. {{How does ASD symptomology correlate with ADHD presentations?}}. {Res Dev Disabil};2014 (Jun 11);35(9):2252-2259.
Elevated rates of attention deficit/hyperactivity disorder (ADHD) symptoms have been documented in the autism spectrum disorder (ASD) population. However, the recent restructuring of the ASD diagnostic category and its respective symptom structure has elicited concern about how these changes may impact prevalence rates, the deliverance of services, and the rates of comorbid psychopathology. At present, few researchers have investigated the prevalence rates of specific ADHD presentations within ASD populations. As we seek to increase our understanding of ADHD symptom manifestation in ASD populations it is important to establish base rates of attention and hyperactive symptoms. The current manuscript sought to investigate the prevalence of inattention and impulsive symptoms in 1722 infants and toddlers. Individuals were separated into three diagnostic groups for analyses, a DSM-5 ASD group, an atypically developing group, and a DSM-IV-TR ASD group. Initial analysis extended previous research by demonstrating significantly elevated rates of inattention/impulsive symptoms in toddlers meeting DSM-5 criteria for ASD when compared to the DSM-IV-TR ASD and atypically developing groups. Additional analysis demonstrated that ASD symptom severity was positively correlated with inattention/impulsive symptoms regardless of primary diagnosis. Lastly, analyses examined the exhibition of inattention and impulsive symptoms separately within diagnostic groups. Results suggest that the expression of impulsive and inattentive symptoms did not significantly differ within diagnostic groups.
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5. Gandhi RP, Klein U. {{Autism spectrum disorders: an update on oral health management}}. {J Evid Based Dent Pract};2014 (Jun);14 Suppl:115-126.
Dental professionals caring for patients with a diagnosis of autism spectrum disorder (ASD) will need to provide oral health care based on a family-centered approach that involves a comprehensive understanding of parental concerns and preferences, as well as the unique medical management, behaviors, and needs of the individual patient. BACKGROUND: With the rising prevalence of autism spectrum disorders (ASD), oral health providers will find themselves increasingly likely to care for these patients in their daily practice. The purpose of this article is to provide a comprehensive update on the medical and oral health management of patients with autism spectrum disorders. METHODS: The authors conducted a literature review by searching for relevant articles written in English in the PubMed database pertaining to the medical and oral health management of autism, including caries status, preventive, behavioral, trauma, and restorative considerations. CONCLUSIONS: A detailed family centered approach based on parental preferences and concerns, the patient’s challenging behaviors, and related comorbidities can serve to improve the treatment planning and oral health management of dental patients with ASD.
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6. Chantiluke K, Christakou A, Murphy CM, Giampietro V, Daly EM, Ecker C, Brammer M, Murphy DG, Rubia K. {{Disorder-specific functional abnormalities during temporal discounting in youth with Attention Deficit Hyperactivity Disorder (ADHD), Autism and comorbid ADHD and Autism}}. {Psychiatry Res};2014 (Apr 19)
Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorder (ASD) are often comorbid and share cognitive abnormalities in temporal foresight. A key question is whether shared cognitive phenotypes are based on common or different underlying pathophysiologies and whether comorbid patients have additive neurofunctional deficits, resemble one of the disorders or have a different pathophysiology. We compared age- and IQ-matched boys with non-comorbid ADHD (18), non-comorbid ASD (15), comorbid ADHD and ASD (13) and healthy controls (18) using functional magnetic resonance imaging (fMRI) during a temporal discounting task. Only the ASD and the comorbid groups discounted delayed rewards more steeply. The fMRI data showed both shared and disorder-specific abnormalities in the three groups relative to controls in their brain-behaviour associations. The comorbid group showed both unique and more severe brain-discounting associations than controls and the non-comorbid patient groups in temporal discounting areas of ventromedial and lateral prefrontal cortex, ventral striatum and anterior cingulate, suggesting that comorbidity is neither an endophenocopy of the two pure disorders nor an additive pathology.
