Pubmed du 15/04/09

jeudi 16 avril 2009

1. Coskun M, Karakoc S, Kircelli F, Mukaddes NM. Effectiveness of mirtazapine in the treatment of inappropriate sexual behaviors in individuals with autistic disorder. J Child Adolesc Psychopharmacol ;2009 (Apr) ;19(2):203-206.

OBJECTIVE : The aim of this study was to investigate the efficacy and safety of mirtazapine in the treatment of excessive masturbation and other inappropriate sexual behaviors (ISB) in individuals with the diagnosis of autistic disorder (AD). METHOD : Subjects (n = 10 ; 2 females, 8 males ; age range : 5.2-16.4 years) who suffered from excessive masturbation with or without other ISB were treated with mirtazapine for 8 weeks. Clinical Global Impressions-Severity (CGI-S) and Clinical Global Impressions-Improvement (CGI-I) scales were used for the evaluation of symptoms severity and effectiveness. Mirtazapine was started at 7.5-15 mg/day and titrated up to 15-30 mg/day (mean 21.6 +/- 7.9 mg/day). The data for this study were collected from reviewing medical records of all subjects that suffered from ISB and treated with mirtazapine. RESULTS : CGI scores at baseline and end point ranged from 5 to 7 (mean 6.22 +/- 0.83) and 2 to 4 (mean 3 +/- 0.7), respectively. A nonparametric t-test showed significant difference in CGI-S scores between baseline and end point assessments (Z = -2.725 ; p = 0.006, p < 0.01). Five subjects showed very much, 3 showed much, and 1 showed moderate improvement in excessive masturbation on the CGI-I scale. One subject dropped out from clinical follow up. Mirtazapine was generally tolerated well. The most frequently reported side effects were increased appetite, weight gain (n = 3 ; mean 0.78 +/- 1.20 kg), and sedation. CONCLUSIONS : Mirtazapine could be an effective treatment to ameliorate ISB in a young population with a diagnosis of AD. Well-designed, placebo-controlled studies are needed regarding this topic.

2. Cotugno AJ. Social Competence and Social Skills Training and Intervention for Children with Autism Spectrum Disorders. J Autism Dev Disord ;2009 (Apr 14)

This study examined the effectiveness of a 30 week social competence and social skills group intervention program with children, ages 7-11, diagnosed with Autism Spectrum Disorders (ASD). Eighteen children with ASD were assessed with pretreatment and posttreatment measures on the Walker-McConnell Scale (WMS) and the MGH YouthCare Social Competence Development Scale. Each received the 30-week intervention program. For comparison, a matched sample of ten non-ASD children was also assessed, but received no treatment. The findings indicated that each ASD intervention group demonstrated significant gains on the WMS and significant improvement in the areas of anxiety management, joint attention, and flexibility/transitions. Results suggest that this approach can be effective in improving core social deficits in individuals with ASD.

3. Felder B, Radlwimmer B, Benner A, Mincheva A, Todt G, Beyer KS, Schuster C, Bolte S, Schmotzer G, Klauck SM, Poustka F, Lichter P, Poustka A. FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome. Am J Med Genet A ;2009 (Apr 13)

We describe a patient with autism and brachymetaphalangy, meeting criteria for 2q37 deletion syndrome (also called Albright Hereditary Osteodystrophy-like syndrome or Brachydactyly-Mental Retardation syndrome, OMIM 600430). Our molecular cytogenetic studies, including array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization (FISH), define the extent of the de novo deletion to a 3.5 Mb region on 2q37.3. Although a number of reports of patients with 2q37 deletion syndrome have been published, it remains unclear if gene expression and/or translation are altered by the deletion, thus contributing to the observed phenotypes. To address this question, we selected several candidate genes for the neuropsychiatric and skeletal anomalies found in this patient (autism and brachymetaphalangy). The deleted region in 2q37.3 includes the FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), glypican 1 (GPC1), vigilin (HDLBP), kinesin family member 1A (KIF1A) and proline-alanine-rich STE20-related kinase (PASK), all of which are involved in skeletal or neural differentiation processes. Expression analyses of these genes were performed using RNA from lymphoblastoid cell lines of the patient and his family members. Here we demonstrate that three of these genes, FARP2, HDLBP, and PASK, are considerably downregulated in the patient’s cell line. We hypothesize that haploinsufficiency of these genes may have contributed to the patient’s clinical phenotype. (c) 2009 Wiley-Liss, Inc.

4. Henry CA, Shervin D, Neumeyer A, Steingard R, Spybrook J, Choueiri R, Bauman M. Retrial of selective serotonin reuptake inhibitors in children with pervasive developmental disorders : a retrospective chart review. J Child Adolesc Psychopharmacol ;2009 (Apr) ;19(2):111-117.

BACKGROUND : Youths with pervasive developmental disorders (PDDs) often have symptoms that fail to respond to selective serotonin reuptake inhibitor (SSRI) treatment. These children may be given a subsequent trial of another SSRI. This study reports on the outcome of PDD youths who received a second SSRI trial after an initial treatment failure. METHODS : Clinic charts were reviewed for 22 outpatient youths with a DSM-IV diagnosis of a PDD who were treated with an SSRI after an initial failure with a previous SSRI. Response for the second SSRI trial was determined using the Clinical Global Impressions-Improvement Scale (CGI-I). Treatment indications, symptom severity, demographic data, and side effects were recorded. RESULTS : For the second SSRI trial, 31.8% of the subjects were rated as much improved on the CGI-I scale and determined to be responders, with 68.2% of the subjects demonstrating activation side effects. 90% of subjects demonstrated activation side effects when data from both SSRI trials were combined. There were no statistically significant associations between outcome of the second SSRI trial and clinical/demographic variables. CONCLUSIONS : A second trial of an SSRI after an initial SSRI treatment failure was often unsuccessful in children and adolescents with PDDs. Activation side effects were common. Because alternative treatments in this population are limited, a second trial of an SSRI may still be considered. The study was limited by its retrospective design and by its small sample size.

5. Luong J, Yoder MK, Canham D. Southeast Asian Parents Raising a Child With Autism : A Qualitative Investigation on Coping Styles. J Sch Nurs ;2009 (Apr 13)

Autism is a developmental disability increasing in incidence over the past decade. Parents of children with autism experience prolonged levels of stress and isolation. Using qualitative research design, nine parents of children with autism participated in this study that focused on the effect of autism on the family, coping styles, and support systems. The target population was first-generation Southeast Asian American parents. Results revealed nine coping style patterns : (a) denial/passive coping, (b) empowerment, (c) redirecting energy, (d) shifting of focus, (e) rearranging life and relationships, (f) changed expectations, (g) social withdrawal, (h) spiritual coping, and (i) acceptance. The school was considered the primary supportive entity. Although findings may not be unique to the Southeast Asian group, the research provides an in-depth perspective on their lived experience, their struggles, and strengths. Insight gained from this investigation can help school nurses better understand the affect of autism on families, identify specific needs, and address these needs by advocating for appropriate supportive programs.

6. Saunders CJ, Minassian BE, Chow EW, Zhao W, Vincent JB. Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome. Am J Med Genet A ;2009 (Apr 13)

Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked MECP2 gene. Recently, a new MeCP2 isoform was described, MeCP2_e1, which skips exon 2 and has an alternative N-terminus, translated from exon 1, whereas MeCP2_e2 is translated from a start codon in exon 2. Since the incorporation of exon 1 into standard sequencing protocols for RTT, few exon 1 mutations have been described and are thus assumed to be only rare causes of RTT. Also, studies have suggested that the frameshift mutations identified in exon 1 affect both isoforms. Our aim in this study was to assess the frequency of mutations in exon 1, their relationship to phenotype, and the implications on the etiological role for the isoform MeCP2_e1 in RTT, versus the previously described isoform, MeCP2_e2. We sequenced MECP2 in 51 females with various clinical presentations, including developmental delay, autism, atypical and classical RTT, referred to our laboratories for testing. In patients with identified mutations, X-chromosome inactivation was analyzed. We identified four patients with exon 1 mutations ; three were novel (c.1A > T ; c.1A > G ; c.5C > T), two of which affected the start codon, one a missense change, and one patient had a previously reported splice site mutation, c.62 + 1delGT. The four patients fit criteria for classical RTT, and thus these findings add support to previous reports that exon 1 mutations may be associated with a severe phenotype. Also, these findings add significant weight to the mounting evidence suggesting that the MeCP2_e1 isoform is the etiologically relevant form of the protein. (c) 2009 Wiley-Liss, Inc.


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