1. Bourgeron T. {{Current knowledge on the genetics of autism and propositions for future research}}. {C R Biol};2016 (Jun 8)
Autism spectrum disorders (ASD) are a heterogeneous group of neuropsychiatric disorders characterized by problems in social communication, as well as by the presence of restricted interests, stereotyped and repetitive behaviours. In the last 40years, genetic studies have provided crucial information on the causes of ASD and its diversity. In this article, I will first review the current knowledge on the genetics of ASD and then suggest three propositions to foster research in this field. Twin and familial studies estimated the heritability of ASD to be 50%. While most of the inherited part of ASD is captured by common variants, our current knowledge on the genetics of ASD comes almost exclusively from the identification of highly penetrant de novo mutations through candidate gene or whole exome/genome sequencing studies. Approximately 10% of patients with ASD, especially those with intellectual disability, are carriers of de novo copy-number (CNV) or single nucleotide variants (SNV) affecting clinically relevant genes for ASD. Given the function of these genes, it was hypothesized that abnormal synaptic plasticity and failure of neuronal/synaptic homeostasis could increase the risk of ASD. In addition to these discoveries, three propositions coming from institutions, researchers and/or communities of patients and families can be made to foster research on ASD: (i) to use more dimensional and quantitative data than diagnostic categories; (ii) to increase data sharing and research on genetic and brain diversity in human populations; (iii) to involve patients and relatives as participants for research. Hopefully, this knowledge will lead to a better diagnosis, care and integration of individuals with ASD.
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2. Dekker V, Nauta MH, Mulder EJ, Sytema S, de Bildt A. {{A Fresh Pair of Eyes: A Blind Observation Method for Evaluating Social Skills of Children with ASD in a Naturalistic Peer Situation in School}}. {J Autism Dev Disord};2016 (Jun 11)
The Social skills Observation Measure (SOM) is a direct observation method for social skills used in naturalistic everyday situations in school. This study describes the development of the SOM and investigates its psychometric properties in 86 children with Autism spectrum disorder, aged 9.8-13.1 years. The interrater reliability was found to be good to excellent. The convergent validity was low in relation to parent and teacher reports of social skills, and also to parent interview on adaptive social functioning. Therefore this direct observation seems to provide additional information on the frequency and quality of social behaviors in daily life situations. As such it contributes to parent and teacher information as a blind measurement to evaluate Social Skills Training.
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3. Lopez-Cacho JM, Gallardo S, Posada M, Aguerri M, Calzada D, Mayayo T, Lahoz C, Cardaba B. {{Characterization of immune cell phenotypes in adults with autism spectrum disorders}}. {J Investig Med};2016 (Jun 13)
Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by impairments in verbal and non-verbal communication, impaired social interactions and repetitive behaviors. There is evidence of a link between ASD symptoms and immune dysfunction, but few studies have been performed in adult patients to confirm this. In this work, we used flow cytometry to study immunological differences in peripheral blood mononuclear cells from 59 adult patients and 26 healthy control subjects to identify possible immune cell profiles related with this group of disorders. We analyzed six immune cell subpopulations (ie, B-cells, CD4+ and CD8+ T-cells, NK, NKT cells, and monocytes) and their corresponding stages of apoptosis and activation. The most noteworthy results showed that, compared to healthy controls, patients had increased percentages of CD8+ T-cells and B-cells, and a decrease in the percentage of NKT cells. Regarding CD25 expression, we found overall CD25+ overexpression, primarily in NK and NKT cells. Apoptosis percentage showed an increasing trend only in monocytes of patients. These data support a link between ASD and immune dysfunction, suggesting that specific cellular phenotypes and/or activation status of immune cells may be relevant in adult ASD.
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4. Lv Y, Liu C, Shi M, Cui L. {{Clapping-surpressed focal spikes in EEG may be unique for the patients with rett syndrome : a case report}}. {BMC Neurol};2016;16(1):91.
BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder that primarily affects females. Typical features include a loss of purposeful hand skills, development of hand stereotypies, loss of spoken language, gait abnormalities, and acquired microcephaly. However, Rett syndrome hasn’t been recognized by clinical doctors at the early stage. So we need to find some special characters. CASE PRESENTATION: We reported a Chinese case of Rett syndrome, exhibiting continuous centrotemporal spikes in EEG with paroxysmal suppression by hand stereotypies (hand clapping). The child, female, 4 years old, presented with a significant regression in her spoken language skills, hand stereotypies (hand clapping and hand wringing), a wider based gait with difficulties in balance, repeated abnormal behaviors (bruxism and head banging). With her clinical-history, Rett syndrome was suspected and genetic testing with mutation in MECP2 confirmed the diagnosis. Her EEG showed slow acticity in background and revealed a specific feature that continuous centrotemporal spikes can be suppressed by the repeated hand clapping. And when the hand stopped, the spikes reoccured again. CONCLUSIONS: This unique EEG signature has rarely been reported, which will expand the spectrum of EEG abnormalities in Rett syndrome.
