The Patient Enablement Instrument-French version in a family practice setting: a reliability study

Background: Patient enablement can be defined as the extent to which a patient is capable of understanding and coping with his or her health issues. This concept is linked to a number of health outcomes such as self-management of chronic diseases and quality of life. The Patient Enablement Instrument (PEI) was designed to measure this concept after a medical consultation. The instrument, in its original form and its translations into several languages, has proven to be reliable and valid. The purpose of this study was to evaluate the reliability of the French version of the PEI (PEI-Fv) in a family practice setting. Methods: One hundred and ten participants were recruited in a family medicine clinic in the Saguenay region of Quebec (Canada). The PEI-Fv was completed twice, immediately after consultation with a physician (T1) and 2 weeks after the consultation (T2). The internal consistency of the tool was assessed with Cronbach's α and test-retest reliability by intraclass correlation coefficient. Results: The mean score for the PEI-Fv was 5.06 ± 3.97 (95% confidence interval [CI]: 4.30-5.81) at T1 and 4.63 ± 3.90 (95% CI: 3.82-5.44) at T2. Cronbach's α was high at T1 (α1 = 0.93; 95% CI: 0.91-0.95) and T2 (α2 = 0.93; 95% CI: 0.91-0.95). The intraclass correlation coefficient was 0.62 (95% CI: 0.48-0.74), indicating a moderate test-retest reliability. Conclusions: The internal consistency of the PEI-Fv is excellent. Test-retest reliability was moderate to good. Test-retest reliability should be examined in further studies at a less than 2-week interval to reduce maturation bias. This instrument can be used to measure enablement after consultation in a French-speaking family practice setting

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

RNA binding proteins are key players in posttranscriptional regulation and have been implicated in neuro-developmental and neuropsychiatric disorders. Here, we report a significant burden of heterozygous, likely gene-disrupting variants in CSDE1 (encoding a highly constrained RNA binding protein) among patients with autism and related neurodevelopmental disabilities. Analysis of 17 patients identifies common phenotypes including autism, intellectual disability, language and motor delay, seizures, macrocephaly, and variable ocular abnormalities. HITS-CLIP revealed that Csde1-binding targets are enriched in autism-associated gene sets, especially FMRP targets, and in neuronal development and synaptic plasticity-related pathways. Csde1 knockdown in primary mouse cortical neurons leads to an overgrowth of the neurites and abnormal dendritic spine morphology/synapse formation and impaired synaptic transmission, whereas mutant and knockdown experiments in Drosophila result in defects in synapse growth and synaptic transmission. Our study defines a new autism-related syndrome and highlights the functional role of CSDE1 in synapse development and synaptic transmission

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

textabstractRNA binding proteins are key players in posttranscriptional regulation and have been implicated in neurodevelopmental and neuropsychiatric disorders. Here, we report a significant burden of heterozygous, likely genedisrupting variants in CSDE1 (encoding a highly constrained RNA binding protein) among patients with autism and related neurodevelopmental disabilities. Analysis of 17 patients identifies common phenotypes including autism, intellectual disability, language and motor delay, seizures, macrocephaly, and variable ocular abnormalities. HITSCLIP revealed that Csde1binding targets are enriched in autismassociated gene sets, especially FMRP targets, and in neuronal development and synaptic plasticity–related pathways. Csde1 knockdown in primary mouse cortical neurons leads to an overgrowth of the neurites and abnormal dendritic spine morphology/synapse formation and impaired synaptic transmission, whereas mutant and knockdown experiments in Drosophila result in defects in synapse growth and synaptic transmission. Our study defines a new autismrelated syndrome and highlights the functional role of CSDE1 in synapse development and synaptic transmission