1. Bailey DB, Jr., Bishop E, Raspa M, Skinner D. {{Caregiver opinions about fragile X population screening}}. {Genet Med}. 2011.
PURPOSE:: To determine caregiver perceptions about population screening for fragile X and to examine factors potentially associated with support for screening. METHOD:: We asked 1099 caregivers of a child with fragile X syndrome or a fragile X carrier to rate whether free, voluntary screening should be offered preconception, prenatally, neonatally, or when problems occur. Caregivers chose a preferred time for screening, reported whether screening would affect parent-child bonding, indicated preferences for carrier detection, and gave reasons for their choices. RESULTS:: Caregivers endorsed all forms of screening, but prenatal screening was less strongly endorsed than preconception or postnatal screening. Most (79%) preferred preconception carrier testing, allowing more options when making reproductive decisions. Most thought that screening should also disclose carrier status and believed a positive screen would not negatively affect parent-child bonding. Maternal education, caregiver depression, family impact, and severity of disability were not associated with screening opinions, but parents who only had carrier children were less likely to endorse prenatal screening. CONCLUSION:: Caregivers of children with fragile X widely endorse screening. However, because different parents will make different choices, screening may need to be offered at multiple times with careful consideration of consent and informed decision-making.
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2. Flaherty DK. {{The Vaccine-Autism Connection: A Public Health Crisis Caused by Unethical Medical Practices and Fraudulent Science (October)}}. {Ann Pharmacother}. 2011.
In 1998, Dr. Andrew Wakefield, a British gastroenterologist, described a new autism phenotype called the regressive autism-enterocolitis syndrome triggered by environmental factors such as measles, mumps, and rubella (MMR) vaccination. The speculative vaccination-autism connection decreased parental confidence in public health vaccination programs and created a public health crisis in England and questions about vaccine safety in North America. After 10 years of controversy and investigation, Dr. Wakefield was found guilty of ethical, medical, and scientific misconduct in the publication of the autism paper. Additional studies showed that the data presented were fraudulent. The alleged autism-vaccine connection is, perhaps, the most damaging medical hoax of the last 100 years.
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3. King G, Zwaigenbaum L, Bates A, Baxter D, Rosenbaum P. {{Parent views of the positive contributions of elementary and high school-aged children with autism spectrum disorders and Down syndrome}}. {Child Care Health Dev}. 2011.
Background Much is known about the hardships associated with parenting a child with a disability, but few studies have examined the broader contributions of the child to family life or society. Methods The study involved qualitative analysis of interviews with 16 families of children with autism spectrum disorder or Down syndrome at critical transition periods (entry to elementary or high school), targeting their perceptions of benefits. Results Parents discussed a wide range of benefits beyond the personal level, including parental, family and societal benefits. Exploratory group comparisons indicated that parents of high school-aged children were more likely to mention family-level and societal benefits. Conclusions The findings suggest that raising a child with a disability can trigger role-related decisions that lead to a series of resiliency-related processes and cascading benefits. The findings inform practitioners about the nature of potential positive experiences that can be shared with families starting out on their journey, allowing parents to recognize the positive dimensions of raising a child with a disability in addition to the hardships.
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4. Taurines R, Grunblatt E, Schecklmann M, Schwenck C, Albantakis L, Reefschlager L, Walitza S, Renner T, Gerlach M, Thome J, Romanos M. {{Altered mRNA expression of monoaminergic candidate genes in the blood of children with attention deficit hyperactivity disorder and autism spectrum disorder}}. {World J Biol Psychiatry}. 2011; 12 Suppl 1: 104-8.
Abstract Objectives. In absence of objective clinical characteristics the identification of peripheral biomarkers in neuropsychiatric disorders is highly relevant for the diagnostic process and an individualized therapy. We analyzed mRNA-expression of monoaminergic candidate genes (DRD4, DRD5, TPH1) in peripheral tissue of patients with attention deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASD), highly comorbid with ADHD, searching for possible molecular markers for these disorders. Methods. mRNA was obtained from children and adolescents with ADHD (n = 51) and ASD (n = 26), diagnosed according to ICD-10 criteria, as well as healthy controls (n = 39). mRNA expression was determined via quantitative realtime PCR (qRT-PCR) from whole blood cells. Results. The concentrations of DRD4-mRNA in the whole blood were significantly lower in ADHD and ASD children (19 of 26 comorbid with ADHD) compared to healthy controls. ASD patients revealed a significantly decreased DRD5 mRNA expression in comparison to the two other groups. Conclusions. Alterations in mRNA expression patterns provide further evidence for a relevant effect of the respective candidate genes in the pathophysiology of ADHD. Given their potential as biomarkers mRNA expression patterns may be useful tools in (differential-) diagnostic procedures of ADHD and ASD. Future studies may determine the sensitivity and specificity of these putative biomarkers in larger samples including further neuropsychiatric diagnoses.
