1. Dansie LE, Phommahaxay K, Okusanya AG, Uwadia J, Huang M, Rotschafer SE, Razak KA, Ethell DW, Ethell IM. {{Long-lasting Effects of Minocycline on Behavior in Young but not Adult Fragile X Mice}}. {Neuroscience};2013 (May 6)
Fragile X Syndrome (FXS) is the most common single-gene inherited form of intellectual disability with behaviors characteristic of autism. People with FXS display childhood seizures, hyperactivity, anxiety, developmental delay, attention deficits, and visual-spatial memory impairment, as well as a propensity for obsessive-compulsive disorder (OCD). Several of these aberrant behaviors and FXS-associated synaptic irregularities also occur in « fragile X mental retardation gene » knock-out (Fmr1 KO) mice. We previously reported that minocycline promotes the maturation of dendritic spines – postsynaptic sites for excitatory synapses – in the developing hippocampus of Fmr1 KO mice, which may underlie the beneficial effects of minocycline on anxiolytic behavior in young Fmr1 KO mice. In this study, we compared the effectiveness of minocycline treatment in young and adult Fmr1 KO mice, and determined the dependence of behavioral improvements on short-term versus long-term minocycline administration. We found that 4 and 8 week long treatments significantly reduced locomotor activity in both young and adult Fmr1 KO mice. Some behavioral improvements persisted in young mice post-treatment, but in adults the beneficial effects were lost soon after minocycline treatment was stopped. We also show, for the first time, that minocycline treatment partially attenuates the number and severity of audiogenic seizures in Fmr1 KO mice. This report provides further evidence that minocycline treatment has immediate and long-lasting benefits on FXS-associated behaviors in the Fmr1 KO mouse model.
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2. Kirkendall AM, Waldrop D. {{Staff Perspectives on the Provision of End-of-Life Care in a Community Residence for Older Adults with Developmental Disabilities}}. {J Palliat Med};2013 (May 9)
Abstract Objective: The purpose of the study was to describe the perceptions of community residence (CR) staff who have cared for older adults with developmental disabilities (ADDs) that are at the end of life. Design: This exploratory, descriptive study utilized qualitative methods that involved semistructured interviews with CR staff members. Setting: The setting was a CR that was also an intermediate care facility (ICF) that provided 24-hour residential treatment for medical and/or behavioral needs. At least one registered nurse was present at all times. A CR with at least one resident who was over the age of 40 and had a diagnosis of a life-limiting illness was chosen. Participants: Participants included three frontline workers, four managers, and one registered nurse. Methods: In-person interviews included open-ended questions about end-of-life care for older ADDs. Demographics such as age, length of time working with ADDs, and education were analyzed using descriptive statistics. Descriptive statistics were used to analyze demographics such as age, and length of time working with ADDs. Interviews were digitally recorded, transcribed, and analyzed using grounded theory techniques. Results: Four themes illuminated unique elements of the provision of end-of-life care in a CR: (1) influence of relationships, (2) expression of individuality, (3) contribution of hospice, (4) grief and bereavement, and (5) challenges to end-of-life care. Conclusion: The results provided insight into the unique needs of older ADDs at the end of life and how this influences their care. Emphasis was also placed on the importance of specialized care that involved collaborations with hospice for older ADDs who remain in a CR at the end of life.
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3. Lafauci G, Adayev T, Kascsak R, Nolin S, Mehta P, Brown WT, Dobkin C. {{Fragile X Screening: Quantification of FMRP in Dried Blood Spots by a Luminex Immunoassay}}. {J Mol Diagn};2013 (May 6)
Fragile X is the most common inherited cause of intellectual disability and is frequently associated with autism. The syndrome is due to mutations of the FMR1 gene that result in the absence of fragile X mental retardation protein (FMRP). We have developed a rapid, highly sensitive method for quantifying FMRP from dried blood spots and lymphocytes. This assay uses two new antibodies, a bacterially expressed abbreviated FMRP standard, and a Luminex platform to quantify FMRP. The assay readily distinguished between samples from males with fragile X full mutations and samples from normal males. It also differentiated mosaic from nonmosaic full-mutation male samples. This assay, because of its methodology and minimal cost, could be the basis for newborn or population screening.
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4. Nordenbaek C, Jorgensen M, Kyvik KO, Bilenberg N. {{A Danish population-based twin study on autism spectrum disorders}}. {Eur Child Adolesc Psychiatry};2013 (May 10)
Genetic epidemiological studies of Autism Spectrum Disorders (ASDs) based on twin pairs ascertained from the population and thoroughly assessed to obtain a high degree of diagnostic validity are few. All twin pairs aged 3-14 years in the nationwide Danish Twin Registry were approached. A three-step procedure was used. Five items from the « Child Behaviour Checklist » (CBCL) were used in the first screening phase, while screening in the second phase included the « Social and Communication Questionnaire » and the « Autism Spectrum Screening Questionnaire ». The final clinical assessment was based on « gold standard » diagnostic research procedures including diagnostic interview, observation and cognitive examination. Classification was based on DSM-IV-TR criteria. The initial sample included 7,296 same-sexed twin pairs and, after two phases of screening and clinical assessment, the final calculations were based on 36 pairs. The probandwise concordance rate for ASD was 95.2 % in monozygotic (MZ) twins (n = 13 pairs) and 4.3 % in dizygotic (DZ) twins (n = 23 pairs). The high MZ and low DZ concordance rate support a genetic aetiology to ASDs.
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5. van Santen JP, Sproat RW, Hill AP. {{Quantifying Repetitive Speech in Autism Spectrum Disorders and Language Impairment}}. {Autism Res};2013 (May 9)
We report on an automatic technique for quantifying two types of repetitive speech: repetitions of what the child says him/herself (self-repeats) and of what is uttered by an interlocutor (echolalia). We apply this technique to a sample of 111 children between the ages of four and eight: 42 typically developing children (TD), 19 children with specific language impairment (SLI), 25 children with autism spectrum disorders (ASD) plus language impairment (ALI), and 25 children with ASD with normal, non-impaired language (ALN). The results indicate robust differences in echolalia between the TD and ASD groups as a whole (ALN + ALI), and between TD and ALN children. There were no significant differences between ALI and SLI children for echolalia or self-repetitions. The results confirm previous findings that children with ASD repeat the language of others more than other populations of children. On the other hand, self-repetition does not appear to be significantly more frequent in ASD, nor does it matter whether the child’s echolalia occurred within one (immediate) or two turns (near-immediate) of the adult’s original utterance. Furthermore, non-significant differences between ALN and SLI, between TD and SLI, and between ALI and TD are suggestive that echolalia may not be specific to ALN or to ASD in general. One important innovation of this work is an objective fully automatic technique for assessing the amount of repetition in a transcript of a child’s utterances. Autism Res 2013, : -. (c) 2013 International Society for Autism Research, Wiley Periodicals, Inc.
