Pubmed du 3/03/09

mercredi 4 mars 2009

1. Bertoglio K, Hendren RL. New developments in autism. Psychiatr Clin North Am ;2009 (Mar) ;32(1):1-14.

The substantial increase in the prevalence of autism necessitates that practicing physicians become more familiar with the presentation of symptoms to improve early diagnoses and interventions, thus improving the prognosis for affected children. Autism is a complex neurodevelopmental disorder with a triad of core impairments in social interactions, repetitive behaviors, and communication. Clinically, autism appears as a spectrum, with many variations in the severity of defining behaviors and associated symptoms among children. Although the etiology of autism is unknown, it is thought to involve a genetic susceptibility that may be triggered by environmental factors. Because of the high variability in behaviors, biologic findings, and response to treatment, many specialists are assuming a theory of many different autisms, each of which may have a somewhat different etiology and response to treatment. Although there is no known cure for autism, many treatments are available to improve core and associated symptoms.

2. Briegel W, Schimek M, Kamp-Becker I, Hofmann C, Schwab KO. Autism spectrum disorders in children and adolescents with Moebius sequence. Eur Child Adolesc Psychiatry ;2009 (Mar 3)

Moebius sequence is a rare congenital disorder usually defined as a combination of facial weakness with impairment of ocular abduction. A strong association of Moebius sequence with autism spectrum disorders (ASDs) has been suggested in earlier studies with heterogenous age groups. The primary caregivers of all children and adolescents with Moebius sequence aged 6-17 years known to the German Moebius foundation were anonymously asked to complete two screening measures of ASD [Behavior and Communication Questionnaire (VSK) ; Marburger Asperger’s Syndrome Rating Scale (MBAS)]. For those who reached the cut-off for ASD, well standardized diagnostic instruments (Autism Diagnostic Interview-Revised, Autism Diagnostic Observation Schedule, WISC-III, and Kinder-DIPS) should be administered. Minimal diagnostic criteria for Moebius sequence were congenital facial weakness (uni- or bilateral) and impairment of ocular abduction (uni- or bilateral). Familiar cases should be excluded. The primary caregivers of 35/46 children and adolescents (18 males, 17 females, mean age 11.5 years) sent back completed questionnaires, but only 27 subjects met inclusion criteria. According to the primary caregivers, none of these subjects showed mental retardation. Two probands (both males 9 and 16 years old) reached the cut-off of the MBAS whereas the results of the VSK did not indicate ASDs in any of the patients. The 9 year old boy could be examined personally and did not meet diagnostic criteria of ASD. ASDs might be not as frequent as reported in previous studies on patients with Moebius sequence, at least not in patients without mental retardation.

3. Leach A, Collins M. Is my child autistic ? Helping parents understand a difficult diagnosis. Jaapa ;2009 (Jan) ;22(1):40-43.

4. Mantis JG, Fritz CL, Marsh J, Heinrichs SC, Seyfried TN. Improvement of Motor and Exploratory Behavior in Rett Syndrome Mice with Restricted Ketogenic and Standard Diets. Epilepsy Behav ;2009 (Feb 25)

Rett syndrome (RTT) is a rare X-linked autistic-spectrum neurological disorder associated with impaired energy metabolism, seizure susceptibility, progressive social behavioral regression, and motor impairment primarily in young girls. The objective of this study was to examine the influence of restricted diets, including a ketogenic diet (KD) and a standard rodent chow diet (SD), on behavior in male Mecp2(308/y) mice, a model of RTT. The KD is a high fat, low carbohydrate diet that has anticonvulsant efficacy in children with intractable epilepsy and may be therapeutic in children with RTT. Following an 11 day pretrial period, adult wild-type and mutant Rett mice were separated into groups that were fed either a SD in unrestricted or restricted amounts, or a ketogenic diet (KetoCal((R))) in restricted amounts for a total of 30 days. The restricted diets were administered to reduce mouse body weight by 20-23% compared to the body weight of each mouse before the initiation of the diet. All mice were subjected to a battery of behavioral tests to determine the influence of the diet on the RTT phenotype. We found that performance in tests of motor behavior and anxiety was significantly less in male RTT mice than in wild mice, and that restriction of either the KD or the SD improved motor behavior and reduced anxiety. We conclude that although both restricted diets increased the tendency of Rett mice to explore a novel environment, the beneficial effects of the KD diet were due more to calorie restriction than to the composition of the diet. Our findings suggest that calorically restricted diets could be effective in reducing the anxiety and in improving motor behavior in girls with RTT.

5. Marcason W. What is the current status of research concerning use of a gluten-free, casein-free diet for children diagnosed with autism ? J Am Diet Assoc ;2009 (Mar) ;109(3):572.

6. Sprovieri T, Conforti FL, Fiumara A, Mazzei R, Ungaro C, Citrigno L, Muglia M, Arena A, Quattrone A. A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. Am J Med Genet A ;2009 (Feb 27)

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have recently been reported in patients with severe neurodevelopmental disorder characterized by early-onset seizures, infantile spasms, severe psychomotor impairment and very recently, in patients with Rett syndrome (RTT)-like phenotype. Although the involvement of CDKL5 in specific biological pathways and its neurodevelopmental role have not been completely elucidated, the CDKL5 appears to be physiologically related to the MECP2 gene. Here we report on the clinical and CDKL5 molecular investigation in a very unusual RTT case, with severe, early-neurological involvement in which we have shown in a previous report, a novel P388S MECP2 mutation [Conforti et al. (2003) ; Am J Med Genet A 117A : 184-187]. The patient has had severe psychomotor delay since the first month of life and infantile spasms since age 5 months. Moreover, at age 5 years the patient suddenly presented with renal failure. The severe pattern of symptoms in our patient, similar to a CDKL5 phenotype, prompted us to perform an analysis of the CDKL5, which revealed a novel missense mutation never previously described. The X-inactivation assay was non-informative. In conclusion, this report reinforces the observation that the CDKL5 phenotype overlaps with RTT and that CDKL5 analysis is recommended in patients with a seizure disorder commencing during the first months of life. (c) 2009 Wiley-Liss, Inc.

7. Yuan TF. Einstein’s brain : Gliogenesis in autism ? Med Hypotheses ;2009 (Feb 27)

The hypothesis is that the increased glia/neuron ratio in cortical areas of Einstein’s brain is the sign of autism disorder rather than the evidence that more glial cells make a genius.


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