Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous MYT1L Variant.

Autism spectrum disorder (ASD) comprises a group of complex neurodevelopmental features seen in many different forms due to variable causes. Highly impactful ASD-susceptibility genes are involved in pathways associated with brain development, chromatin remodeling, and transcription regulation. In this study, we investigate a proband with complex ASD. Whole genome sequencing revealed a novel de novo missense mutation of a highly conserved amino acid residue (NP_001289981.1:p.His516Gln; chr2:1917275; hg38) in the MYT1L neural transcription factor gene. In combination with in silico analysis on gene effect and pathogenicity, we described the proband's phenotype and made comparisons with previously reported cases to explore the spectrum of clinical features in MYT1L single nucleotide variant (SNV) cases. The phenotype-genotype correlation showed a high degree of clinical similarity with previously reported cases of missense variants in MYT1L, indicating MYT1L as the causal gene for the observed phenotype in our proband. The variant was also predicted to be damaging according to multiple in silico pathogenicity predicting tools. This study expands the clinical description of SNVs on the MYT1L gene and provides insight into its contribution to ASD.

Novel Application of the World Health Organization Community-Based Rehabilitation Matrix to Understand Services' Contributions to Community Participation for Persons With Traumatic Spinal Cord Injury: A Mixed-Methods Study.

PURPOSE: The aim of the study is to use the World Health Organization community-based rehabilitation matrix for understanding services' contributions to foster community participation for people with traumatic spinal cord injury. METHODS: This study used a convergent mixed-methods design with a quantitative arm describing the frequency with which services contributed to 22 of the community-based rehabilitation-matrix elements and a qualitative arm involving document reviews and stakeholder interviews. Results were integrated following Onwuegbuzie and Teddlie's method (i.e., quan + QUAL). RESULTS: Twenty of the 22 (91%) of the World Health Organization community-based rehabilitation elements were addressed by traumatic spinal cord injury services. Five types of services were identified. Integrated results showed that the strengths of traumatic spinal cord injury services were as follows: (1) comprehensiveness; (2) essential medical services publicly funded; (3) numerous social protections available; and (4) highly active community-based organizations. Identified opportunities to improve these services were as follows: (1) increase specificity for traumatic spinal cord injury and (2) increase communication and integration among services. CONCLUSIONS: Services available for people with traumatic spinal cord injury in the province studied address most of the elements of the World Health Organization community-based rehabilitation matrix. However, lack of cohesion between services could create gaps that hinder community participation. Addressing these gaps could improve the quality of life and outcomes of people with traumatic spinal cord injury.

Effectiveness of a rectal cancer education video on patient expectations.

AIM: Discrepancy between patient expectations and outcomes can negatively affect patient satisfaction and quality of life. We aimed to assess patient expectations of bowel, urinary, and sexual function after rectal cancer treatments, and whether a preoperative education video changed expectations. METHODS: A total of 45 patients were assessed between January 2018 and January 2021 in a tertiary care hospital in Vancouver, Canada. Patients included were rectal cancer patients who had neoadjuvant chemoradiation and were listed for low anterior resection but had not yet had surgery. Following surgical consultation but before surgery, a questionnaire assessing expectations of lifestyle after treatments was administered. Patients then watched an educational video and repeated the questionnaire to assess for changes in expectations. RESULTS: Patient scores indicated expectation that control of bowel movements, urination, and sexual function would sometimes be problematic, but had a range from occasionally problematic to good function. Significant change after the video was seen in the expectation of needing medications for bowel control, and 44%-69% of individual patient answers changed from prevideo to post-video, depending on the question. The education video was scored as helpful or very helpful by 82% of patients. CONCLUSIONS: Patients have varying expectations of problematic control of bowel, urinary, and sexual function following rectal cancer treatments. A pretreatment education video resulted in a trend toward changed expectations for functional outcomes in most patients. Further educational modalities for patients may provide more uniform expectations of function and increase patient satisfaction after rectal cancer treatments.