Autism and Schizophrenia in high functioning adults: Behavioral differences and overlap

Several recent studies have demonstrated a genetical overlap between autism and schizophrenia. However, at a behavioral level it remains unclear which features can validly distinguish adults with autism from an adult schizophrenia group. To this end, the present study compared 21 individuals with the autistic disorder and 21 individuals with schizophrenia in self-reported features of autism and schizophrenia, as measured by the Autism-Spectrum Quotient (AQ) and the Schizotypal Personality Questionnaire(SPQ). The schizophrenia group was more likely to report positive symptoms and the adults with autism were more likely to report impairments in social skill. Overlap was found between the two groups in negative symptoms, disorganization, attention to detail and imagination. Thus, when discriminating between the two disorders, especially social skill and the presence of positive symptoms are relevant, whereas the presence of negative symptoms is not indicative

Local Information Processing in Adults with High Functioning Autism and Asperger Syndrome: The Usefulness of Neuropsychological Tests and Self-Reports

Local information processing in 42 adults with high functioning autism, 41 adults with Asperger syndrome and 41 neurotypical adults was examined. Contrary to our expectations, the disorder groups did not outperform the neurotypical group in the neuropsychological measures of local information processing. In line with our hypotheses, the self-reports did show higher levels of local information processing and a stronger tendency to use systemizing strategies in the two disorder groups. Absent and weak correlations were found between the self-reports and the two neuropsychological tasks in the three groups. The neuropsychological tests and the self-reports seem to measure different underlying constructs. The self-reports were most predictive of the presence of an autism spectrum diagnosis

Autisme en schizofrenie bij volwassenen: verschillen en overeenkomsten

Recent genetisch onderzoek wijst op overlap tussen autisme en schizofrenie. Echter voor veel clinici en onderzoekers is onduidelijk hoe beide stoornissen op cognitief en gedragsmatig niveau overeenkomen en van elkaar verschillen. In het onderhavige artikel wordt besproken wat hierover bekend is in de wetenschappelijke literatuur. Op cognitief gebied blijkt er veel onduidelijkheid te zijn omtrent de verschillen en overeenkomsten tussen beide stoornissen, met name waar het gaat om volwassenen. Op gedragsniveau blijkt dat bij volwassenen met autisme meer problemen in sociaal gedrag aanwezig zijn, terwijl bij schizofrenie meer positieve symptomen worden gerapporteerd. Overeenkomsten komen naar voren in negatieve symptomatologie,symptomen van desorganisatie, moeite met veranderingen, communicatie, fantasie en gerichtheid op details. Bij het onderscheiden van autisme en schizofrenie in de klinische praktijk dient dus vooral gekeken te worden naar sociaal gedrag en positieve symptomen. Andere gedragskenmerken lijken minder relevant in het differentiaaldiagnostische proces, gezien de overlap tussen beide stoornissen

Distinctive phenotypic abnormalities associated with submicroscopic 21q22 deletion including DYRK1A

Partial monosomy 21 has been reported, but the phenotypes described are variable with location and size of the deletion. We present 2 patients with a partially overlapping microdeletion of 21q22 and a striking phenotypic resemblance. They both presented with severe psychomotor delay, behavioral problems, no speech, microcephaly, feeding problems with frequent regurgi

Ixazomib, daratumumab and low-dose dexamethasone in intermediate-fit patients with newly diagnosed multiple myeloma:an open-label phase 2 trial

Background: The outcome of non-transplant eligible newly diagnosed multiple myeloma (NDMM) patients is heterogeneous, partly depending on frailty level. The aim of this study was to prospectively investigate the efficacy and safety of Ixazomib-Daratumumab-low-dose dexamethasone (Ixa-Dara-dex) in NDMM intermediate-fit patients. Methods: In this phase II multicenter HOVON-143 study, IMWG Frailty index based intermediate-fit patients, were treated with 9 induction cycles of Ixa-Dara-dex, followed by maintenance with ID for a maximum of 2 years. The primary endpoint was overall response rate on induction treatment. Patients were included from October 2017 until May 2019. Trial Registration Number: NTR6297. Findings: Sixty-five patients were included. Induction therapy resulted in an overall response rate of 71%. Early mortality was 1.5%. At a median follow-up of 41.0 months, median progression-free survival (PFS) was 18.2 months and 3-year overall survival 83%. Discontinuation of therapy occurred in 77% of patients, 49% due to progression, 9% due to toxicity, 8% due to incompliance, 3% due to sudden death and 8% due to other reasons. Dose modifications of ixazomib were required frequently (37% and 53% of patients during induction and maintenance, respectively), mainly due to, often low grade, polyneuropathy. During maintenance 23% of patients received daratumumab alone. Global quality of life (QoL) improved significantly and was clinically relevant, which persisted during maintenance treatment. Interpretation: Ixazomib-Daratumumab-low-dose dexamethasone as first line treatment in intermediate-fit NDMM patients is safe and improves global QoL. However, efficacy was limited, partly explained by ixazomib-induced toxicity, hampering long term tolerability of this 3-drug regimen. This highlights the need for more efficacious and tolerable regimens improving the outcome in vulnerable intermediate-fit patients. Funding: Janssen Pharmaceuticals, Takeda Pharmaceutical Company Limited.</p

Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas

Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are relatively frequently occurring foregut malformations. EA/TEF is thought to have a strong genetic component. Not much is known regarding the biological processes disturbed or which cell type is affected in patients. This hampers the detection of the responsible culprits (genetic or environmental) for the origin of these congenital anatomical malformations. Therefore, we examined gene expression patterns in the TEF and compared them to the patterns in esophageal, tracheal and lung control samples. We studied tissue organization and key proteins using immunohistochemistry. There were clear differences between TEF and control samples. Based on the number of differentially expressed genes as well as histological characteristics, TEFs were most similar to normal esophagus. The BMP-signaling pathway, actin cytoskeleton and extracellular matrix pathways are downregulated in TEF. Genes involved in smooth muscle contraction are overexpressed in TEF compared to esophagus as well as trachea. These enriched pathways indicate myofibroblast activated fibrosis. TEF represents a specific tissue type with large contributions of intestinal smooth muscle cells and neurons. All major cell types present in esophagus are present-albeit often structurally disorganized-in TEF, indicating that i

The use of the Autism-spectrum Quotient in differentiating high functioning adults with autism, adults with schizophrenia and a neurotypical adult control group

The present study compared 21 high functioning individuals with autism, 21 individuals with schizophrenia and 21 healthy individuals in self-reported features of autism, as measured by the Autism-spectrum Quotient (AQ). The individuals with autism reported impairment on all AQ subscales, compared to the neurotypical group. The schizophrenia group reported deficits on all subscales except Attention to detail, compared to the neurotypical group. The autism group reported more impairment than the individuals with schizophrenia in Social skill, Communication and Attention switching