Differential profiles of four groups of children referred to an autism diagnostic service in Belgium: Autism-specific hallmarks.

OBJECTIVE:: This article aims at exploring distinctive hallmarks of autistic disorders compared to other groups presenting mimicking and/or overlapping conditions. METHOD:: The exploratory study involved 196 children with autism, intellectual disability, language impairment and psycho-affective disorders previously referred to an autism diagnostic service. The autism discriminative tool (ADT), a behavioural checklist, was used to compile and analyse the children's profiles based on the clinical information gathered during diagnostic assessments. All samples were compared and analysed separately according to the checklist's four domains. RESULTS:: Children with autism showed greater frequency and severity of impairments on the ADT's social and communication categories. These children also differed from other groups in terms of specific rigid behaviours and high frequency of atypical sensory responses. CONCLUSIONS:: Results illustrate the psychopathology of autism spectrum disorder suspected children referred to a specialized autism diagnostic service, doing so by providing us with specific clinical profiles.

Rett syndrome associated with continuous spikes and waves during sleep.

Major speech impairment is a cardinal feature of Rett syndrome. Epilepsy, of variable presentation, is also frequently described. We report a girl who presented rapid speech regression while EEG showed continuous spikes and waves during slow sleep. The clinical picture was consistent with Rett syndrome, confirmed by MECP2 mutation R133C. We hypothesized that speech regression was partially related to nocturnal epileptic activity. Several antiepileptic drugs were used unsuccessfully but valproic acid was accompanied by improvement of verbal fluency, social interaction and manual abilities as measured by the Quebec Scale of Adaptive Behaviors and the Rett syndrome adapted Kerr scale. Continuous spikes and waves during slow sleep are unexpected in the early stages of Rett syndrome. This report suggests that it might contribute to the clinical impairment, in particular communicative capabilities, and that adequate antiepileptic treatment may be beneficial.

Novel human-derived cell-penetrating peptides for specific subcellular delivery of therapeutic biomolecules.

Short peptide sequences that are able to transport molecules across the cell membrane have been developed as tools for intracellular delivery of therapeutic molecules. This work describes a novel family of cell-penetrating peptides named Vectocell peptides [also termed DPVs (Diatos peptide vectors)]. These peptides, originating from human heparin binding proteins and/or anti-DNA antibodies, once conjugated to a therapeutic molecule, can deliver the molecule to either the cytoplasm or the nucleus of mammalian cells. Vectocell peptides can drive intracellular delivery of molecules of varying molecular mass, including full-length active immunoglobulins, with efficiency often greater than that of the well-characterized cell-penetrating peptide Tat. The internalization of Vectocell peptides has been demonstrated to occur in both adherent and suspension cell lines as well as in primary cells through an energy-dependent endocytosis process, involving cell-membrane lipid rafts. This endocytosis occurs after binding of the cell-penetrating peptides to extracellular heparan sulphate proteoglycans, except for one particular peptide (DPV1047) that partially originates from an anti-DNA antibody and is internalized in a caveolar independent manner. These new therapeutic tools are currently being developed for intracellular delivery of a number of active molecules and their potentiality for in vivo transduction investigated.

Children with Autism Understand Indirect Speech Acts: Evidence from a Semi-Structured Act-Out Task.

Children with Autism Spectrum Disorder are often said to present a global pragmatic impairment. However, there is some observational evidence that context-based comprehension of indirect requests may be preserved in autism. In order to provide experimental confirmation to this hypothesis, indirect speech act comprehension was tested in a group of 15 children with autism between 7 and 12 years and a group of 20 typically developing children between 2:7 and 3:6 years. The aim of the study was to determine whether children with autism can display genuinely contextual understanding of indirect requests. The experiment consisted of a three-pronged semi-structured task involving Mr Potato Head. In the first phase a declarative sentence was uttered by one adult as an instruction to put a garment on a Mr Potato Head toy; in the second the same sentence was uttered as a comment on a picture by another speaker; in the third phase the same sentence was uttered as a comment on a picture by the first speaker. Children with autism complied with the indirect request in the first phase and demonstrated the capacity to inhibit the directive interpretation in phases 2 and 3. TD children had some difficulty in understanding the indirect instruction in phase 1. These results call for a more nuanced view of pragmatic dysfunction in autism.