1. Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M, Visconti P, Dupont B, Tiziano D, Schroer RJ, Neri G, Stevenson RE, Gurrieri F, Schwartz CE. {{Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders}}. {Eur J Hum Genet};2012 (Aug 15)
Autism spectrum disorders (ASDs) include three main conditions: autistic disorder (AD), pervasive developmental disorder, not otherwise specified (PDD-NOS), and Asperger syndrome. It has been shown that many genes associated with ASDs are involved in the neuroligin-neurexin interaction at the glutamate synapse: NLGN3, NLGN4, NRXN1, CNTNAP2, and SHANK3. We screened this last gene in two cohorts of ASD patients (133 patients from US and 88 from Italy). We found 5/221 (2.3%) cases with pathogenic alterations: a 106 kb deletion encompassing the SHANK3 gene, two frameshift mutations leading to premature stop codons, a missense mutation (p.Pro141Ala), and a splicing mutation (c.1820-4 G>A). Additionally, in 17 patients (7.7%) we detected a c.1304+48C>T transition affecting a methylated cytosine in a CpG island. This variant is reported as SNP rs76224556 and was found in both US and Italian controls, but it results significantly more frequent in our cases than in the control cohorts. The variant is also significantly more common among PDD-NOS cases than in AD cases. We also screened this gene in an independent replication cohort of 104 US patients with ASDs, in which we found a missense mutation (p.Ala1468Ser) in 1 patient (0.9%), and in 8 patients (7.7%) we detected the c.1304+48C>T transition. While SHANK3 variants are present in any ASD subtype, the SNP rs76224556 appears to be significantly associated with PDD-NOS cases. This represents the first evidence of a genotype-phenotype correlation in ASDs and highlights the importance of a detailed clinical-neuropsychiatric evaluation for the effective genetic screening of ASD patients.European Journal of Human Genetics advance online publication, 15 August 2012; doi:10.1038/ejhg.2012.175.
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2. Mohiuddin S, Ghaziuddin M. {{Psychopharmacology of Autism Spectrum Disorders: A Selective Review}}. {Autism};2012 (Aug 14)
While there is no cure for autism spectrum disorder, psychopharmacologic agents are often used with behavioral and educational approaches to treat its comorbid symptoms of hyperactivity, irritability, and aggression. Studies suggest that at least 50% of persons with autism spectrum disorder receive psychotropic medications during their life span. This selective review examines recent studies about the use of psychotropic medications in persons with autism spectrum disorder. The aim was to focus on randomized controlled trials conducted from 1990 to 2010 on this topic. A comprehensive literature search was performed using PubMed and Cochrane databases. Out of 105 studies identified for the review, only 24 were randomized controlled trials. Thus, despite the common use of these medications in autism spectrum disorder, more controlled studies are needed to determine their long-term efficacy and safety.
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3. Szeftel R, Federico C, Hakak R, Szeftel Z, Jacobson M. {{Improved access to mental health evaluation for patients with developmental disabilities using telepsychiatry}}. {J Telemed Telecare};2012 (Aug 14)
The Cedars-Sinai Telepsychiatry Clinic uses a collaborative-care model to treat patients with developmental disabilities. We examined its practice in four areas: patient characteristics, clinical care, symptom severity and diagnostic outcomes to describe the care provided and the population seen in the telepsychiatry clinic. In a chart review, 45 out of 126 cases were selected and evaluated at three times: initial evaluation, year one and year three. Most of the patients (84%) had an intellectual disability, 55% had a pervasive developmental disorder and 71% spoke approximately 50 words or less. Prior to the initial assessment, none of the patients were diagnosed with anxiety or mood disorders, while almost one-third of patients received one of these diagnoses in the telepsychiatry clinic. Patients were seen six times on average in the first year and three times in the second and third years. The telepsychiatrist recommended a change in the patient’s medication for 82% of patients at initial assessment, 41% at year one and 46% at year three. The review suggests that telepsychiatry evaluations can be valuable for patients with developmental disabilities, providing diagnostic clarity and specific recommendations that can be implemented by the primary care physician.
