Neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and global developmental delay are among the most common indications for referral to clinical genetics evaluation; and clinical genetic testing is indicated for people with neurodevelopmental disorders. There are known barriers to care in accessing clinical genetics evaluation for this patient population. We created a collaborative psychiatric-genetics consultation service and psychiatric-genetics outpatient clinic with the goal to improve care delivery to patients with neurodevelopmental disorders. Two years after the launch of this pilot program, our data demonstrate improved access to genetics evaluation with shorter wait times and fewer patients lost to follow-up. Perhaps most importantly, new genetic diagnoses changed medical care for the majority of patients.
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http://dx.doi.org/10.3389/fgene.2022.901458 | DOI Listing |
Mol Biol Rep
January 2025
Department of Gastroenterology, Beijing Friendship Hospital, Capital Medical University, No. 95, Yong An Road, Xi Cheng District, Beijing, 100050, China.
Canopy family proteins are highly sequence-conserved proteins with an N-terminal hydrophobic signal sequence, a unique pattern of six cysteine residues characteristic of the saposin-like proteins, and a C-terminal putative endoplasmic reticulum retention signal sequence. At present, the known canopy family proteins are canopy fibroblast growth factor signaling regulator 1 (CNPY1), CNPY2, CNPY3, and CNPY4. Despite similar structures, canopy family proteins regulate complex signal networks to participate in various biological processes.
View Article and Find Full Text PDFJ Cell Biol
April 2025
Department of Genetics and Cell Biology, College of Life Sciences, State Key Laboratory of Medicinal Chemical Biology, Nankai University, Tianjin, China.
TBC1D20 deficiency causes Warburg Micro Syndrome in humans, characterized by multiple eye abnormalities, severe intellectual disability, and abnormal sexual development, but the molecular mechanisms remain unknown. Here, we identify TBC1D20 as a novel Rab11 GTPase-activating protein that coordinates vesicle transport and actin remodeling to regulate ciliogenesis. Depletion of TBC1D20 promotes Rab11 vesicle accumulation and actin deconstruction around the centrosome, facilitating the initiation of ciliogenesis even in cycling cells.
View Article and Find Full Text PDFCureus
December 2024
Child and Adolescent Inpatient Unit, Tower Behavioral Health, Reading, USA.
Mass shootings have increasingly captured public attention in recent decades, prompting closer examination of the mental health of those responsible. This scrutiny often focuses on individuals with neurodevelopmental disorders, such as autism spectrum disorder (ASD). While epidemiological evidence is mixed on whether these individuals are more likely to commit acts of violence than the general public, certain behavioral characteristics may make them more vulnerable to extremist ideations.
View Article and Find Full Text PDFActa Neuropsychiatr
January 2025
Department of Psychiatry, Korea University Guro Hospital, Seoul, Korea.
Objective: This study aimed to utilise graph theory to explore the functional brain networks in individuals with tic disorders and to investigate resting-state functional connectivity changes in critical brain regions associated with tic disorders.
Methods: Participants comprised individuals with tic disorders and age-matched healthy controls, ranging from 6 to 18 years old, all recruited from Korea University Guro Hospital. We ensured a medication-naïve cohort by excluding participants exposed to psychotropic medications for at least three weeks prior to the study.
Ital J Pediatr
January 2025
Department of developmental and behavior pediatrics, Children's Medical Center, The First Hospital of Jilin University, Jilin University, Changchun, China.
Background: Recent studies have emphasized the association between prolonged screen exposure and neurodevelopmental disorders, though its correlation with tic disorders (TDs) remains ambiguous. We thus conducted this study to investigate the association between screen time (ST) and the severity of tic symptoms in children diagnosed with TDs.
Methods: We conducted a retrospective case-control study with 342 cases of TDs and 270 controls, collecting data from March 2021 to December 2023.
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