1. Al-Ayadhi LY, Ben Bacha AG, Kotb M, El-Ansary AK. {{A novel study on amyloid beta peptide 40, 42 and 40/42 ratio in Saudi autistics}}. {Behavioral and brain functions : BBF}. 2012 Jan 13;8(1):4.
ABSTRACT: Objectives: We examined whether plasma concentrations of amyloid beta (Abeta) as protein derivatives play a central role in the etiology of autistic features. Design and Methods: Concentrations of human Abeta (1-42), Abeta (1-40), and Abeta (40/42) in the plasma of 52 autistic children (aged 3-16 years) and 36 age-matched control subjects were determined by using the ELISA technique and were compared. Results: Compared to control subjects, autistic children exhibited significantly lower concentrations of both Abeta (1-40) and Abeta (1-42) and lower Abeta (40/42) concentration ratio. Receiver operating characteristics curve (ROC) analysis showed that these measurements of Abeta peptides showed high specificity and sensitivity in distinguishing autistic children from control subjects. Conclusions: Lower concentrations of Abeta (1-42) and Abeta (1-40) were attributed to loss of Abeta equilibrium between the brain and blood, an imbalance that may lead to failure to draw Abeta from the brain and/or impairment of beta- and gamma- secretase’s concentration or kinetics as enzymes involving in Abeta production.
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2. Allely CS, Wilson P. {{Diagnosing autism spectrum disorders in primary care}}. {The Practitioner}. 2011 Nov;255(1745):27-30, 3.
Autism is a disorder of social communication, originally described as a triad of impaired social interaction, communication, and imagination, associated with a rigid, repetitive pattern of behaviour. More recently the core deficit has been described as a lack of social instinct. The term autism spectrum disorder (ASD) includes autism, atypical autism and Asperger’s syndrome. According to NICE, diagnostic assessment should start within three months of referral. The decision to refer should be made on the basis of signs or symptoms. Information from all sources (i.e. medical history, parental concerns, clinical judgement) should be used to diagnose ASD based on ICD-10 or DSM-IV criteria. Clinicians should not rely on any one autism-specific diagnostic tool alone to diagnose ASD. Diagnosis is based primarily on the recognition and interpretation of behavioural symptoms. CHAT or the modified version (M-CHAT) are simple checklists that can be used for the assessment of young children in primary care when ASD is suspected. They can identify clinical features indicative of increased risk but should not be used to rule out ASD.
3. Bailey DB, Jr., Bishop E, Raspa M, Skinner D. {{Caregiver opinions about fragile X population screening}}. {Genetics in medicine : official journal of the American College of Medical Genetics}. 2012 Jan;14(1):115-21.
Purpose:We sought to determine caregiver perceptions about population screening for fragile X and to examine factors potentially associated with support for screening.Methods:We asked 1,099 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.Genet Med 2012:14(1):115-121.
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4. Cottrell JE, Hartung J. {{Developmental disability in the young and postoperative cognitive dysfunction in the elderly after anesthesia and surgery: do data justify changing clinical practice?}}. {The Mount Sinai journal of medicine, New York}. 2012 Jan;79(1):75-94.
The assumption that anesthesia has no serious, long-term, adverse central nervous system consequences may be true for most patients between 6 months and 60 years of age. However, for patients younger than 6 months or older than 60 years, that status quo assumption is under challenge from a growing body of evidence. Fetuses and newborns appear to be at risk because systems that would enable them to fully recover from the effects of more than 2 hours of anesthesia are still in development. In distinction, the elderly appear to be at risk because systems that once enabled them to fully recover have ever-diminishing capacity. Even for those between the age of 6 months and 60 years, full recovery may require replacing apoptosed neurons and pruning overabundant dendritic spines … perhaps leaving patients not quite the same person that they were before they were anesthetized. Mt Sinai J Med 79:75-94, 2012. (c) 2012 Mount Sinai School of Medicine.
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5. Ho JD, Nystrom PC, Calvo DV, Berris MS, Norlin JF, Clinton JE. {{Prehospital Chemical Restraint of a Noncommunicative Autistic Minor by Law Enforcement}}. {Prehospital emergency care : official journal of the National Association of EMS Physicians and the National Association of State EMS Directors}. 2012 Jan 11.
Abstract When responders are dealing with an agitated patient in the field, safety for all involved may sometimes only be accomplished with physical or chemical restraints. While experiences using chemical restraint in the prehospital setting are found in the medical literature, the use of this by law enforcement as a first-response restraint has not previously been described. We report a case of successful law enforcement-administered sedation of a noncommunicative, autistic, and violent minor using intramuscular droperidol and diphenhydramine. Although this case has some unique characteristics that allowed chemical restraint to be given by the law enforcement agency, it calls attention to some specific prehospital issues that need to be addressed when dealing with autistic patients with extreme agitation.
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6. Holton A, Weberling B, Clarke CE, Smith MJ. {{The Blame Frame: Media Attribution of Culpability About the MMR-Autism Vaccination Scare}}. {Health communication}. 2012 Jan 11.
Scholars have examined how news media frame events, including responsibility for causing and fixing problems, and how these frames inform public judgment. This study analyzed 281 newspaper articles about a controversial medical study linking the measles, mumps, and rubella (MMR) vaccination with autism. Given criticism of the study and its potential negative impact on vaccination rates across multiple countries, the current study examined actors to whom news media attributed blame for the MMR-vaccine association, sources used to support those attributions, and what solutions (e.g., mobilizing information), if any, were offered. This study provides unique insight by examining the evolution of these attributions over the lifetime of the controversy. Findings emphasize how news media may attribute blame in health risk communication and how that ascription plays a potentially vital role in shaping public behavior. Theoretical and practical implications are discussed.
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7. Manor-Binyamini I, Abu-Ajaj O. {{Coping of siblings of children with developmental disabilities in the Bedouin community}}. {Res Dev Disabil}. 2012 Jan 9;33(3):825-31.
This is the first study that examines the coping of siblings of children with developmental disabilities in comparison with siblings of children without disabilities in the Bedouin community in Israel. For this purpose, the study examines the components of self-esteem, stress, and growth. Data were collected from 200 adolescents. The findings of this study show that siblings to children with developmental disabilities have a similar degree of self-esteem to those siblings to children without disabilities, whereas siblings to children with developmental disabilities have higher levels of stress perception and growth compared to siblings f children without developmental disabilities. In addition, a negative correlation was found between perception of stress and growth and a positive correlation between self-esteem and growth.
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8. Vaags AK, Lionel AC, Sato D, Goodenberger M, Stein QP, Curran S, Ogilvie C, Ahn JW, Drmic I, Senman L, Chrysler C, Thompson A, Russell C, Prasad A, Walker S, Pinto D, Marshall CR, Stavropoulos DJ, Zwaigenbaum L, Fernandez BA, Fombonne E, Bolton PF, Collier DA, Hodge JC, Roberts W, Szatmari P, Scherer SW. {{Rare deletions at the neurexin 3 locus in autism spectrum disorder}}. {American journal of human genetics}. 2012 Jan 13;90(1):133-41.
The three members of the human neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2), and neurexin 3 (NRXN3), encode neuronal adhesion proteins that have important roles in synapse development and function. In autism spectrum disorder (ASD), as well as in other neurodevelopmental conditions, rare exonic copy-number variants and/or point mutations have been identified in the NRXN1 and NRXN2 loci. We present clinical characterization of four index cases who have been diagnosed with ASD and who possess rare inherited or de novo microdeletions at 14q24.3-31.1, a region that overlaps exons of the alpha and/or beta isoforms of NRXN3. NRXN3 deletions were found in one father with subclinical autism and in a carrier mother and father without formal ASD diagnoses, indicating issues of penetrance and expressivity at this locus. Notwithstanding these clinical complexities, this report on ASD-affected individuals who harbor NRXN3 exonic deletions advances the understanding of the genetic etiology of autism, further enabling molecular diagnoses.
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9. Verloes A, Heron D, Billette de Villemeur T, Afenjar A, Baumann C, Bahi-Buisson N, Charles P, Faudet A, Jacquette A, Mignot C, Moutard ML, Passemard S, Rio M, Robel L, Rougeot C, Ville D, Burglen L, des Portes V, et le reseau D. {{Stratégie d’exploration d’une déficience intellectuelle inexpliquée}}. {Archives de pediatrie : organe officiel de la Societe francaise de pediatrie}. 2012 Jan 13.
Developmental disability/mental retardation is a major public health problem and a common cause of consultation in pediatrics, neuropediatrics, and genetics. Etiologies of mental retardation are highly heterogeneous. Diagnostic strategies have been explored in a small number of consensus publications, essentially from English-speaking countries. In these publications, the utility of the conventional karyotype, fragile X screening, metabolic workup, and brain imaging were discussed. Recently, investigations in mental disabilities have been dramatically modified by molecular cytogenetics and the emergence of new metabolic pathologies. Based on the published experiments, the Reference centers for rare disease network « mental deficiencies with rare causes » elaborated an updated protocol for the investigation of nonsyndromal mental disability that takes into account recent innovations in genetics and genomics. Whenever local facilities make it possible, we recommend array CGH investigation as the first step or, when CGH is not available, a combination of classic karyotype with systematic screening of telomeric and interstitial rearrangements by MLPA, fragile X screening in both sexes, and a reorientation of metabolic screening toward certain diseases that have recently been described: congenital disorders of glycosylation (CDG), thyroid hormone carrier deficiency, and creatine metabolism deficiency. We recommend MRI imaging only if head size is abnormal, if neurological examination is abnormal, or regression occurs if walking is not achieved by 2 years, or if development is o severely delayed.
