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1. Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Author

Maya Chopra, Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David Coulter, Emily Davidson, Claudio DeGusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J. Shore, Brian Snyder, Scellig S. D. Stone, Ana Ubeda, Colyn Watkins, Charles Berde, Jeffrey Bolton, Catherine Brownstein, Michael Costigan, Darius Ebrahimi‐Fakhari, Abbe Lai, Anne O'Donnell‐Luria, Alex R. Paciorkowski, Anna Pinto, John Pugh, Lance Rodan, Eugene Roe, Lindsay Swanson, Bo Zhang, Michael C. Kruer, Mustafa Sahin, Annapurna Poduri, and Siddharth Srivastava

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Objectives Cerebral palsy (CP) is the most common childhood motor disability, yet its link to single‐gene disorders is under‐characterized. To explore the genetic landscape of CP, we conducted whole exome sequencing (WES) in a cohort of patients with CP. Methods We performed comprehensive phenotyping and WES on a prospective cohort of individuals with cryptogenic CP (who meet criteria for CP; have no risk factors), non‐cryptogenic CP (who meet criteria for CP; have at least one risk factor), and CP masqueraders (who could be diagnosed with CP, but have regression/progressive symptoms). We characterized motor phenotypes, ascertained medical comorbidities, and classified brain MRIs. We analyzed WES data using an institutional pipeline. Results We included 50 probands in this analysis (20 females, 30 males). Twenty‐four had cryptogenic CP, 20 had non‐cryptogenic CP, five had CP masquerader classification, and one had unknown classification. Hypotonic‐ataxic subtype showed a difference in prevalence across the classification groups (p = 0.01). Twenty‐six percent of participants (13/50) had a pathogenic/likely pathogenic variant in 13 unique genes (ECHS1, SATB2, ZMYM2, ADAT3, COL4A1, THOC2, SLC16A2, SPAST, POLR2A, GNAO1, PDHX, ACADM, ATL1), including one patient with two genetic disorders (ACADM, PDHX) and two patients with a SPAST‐related disorder. The CP masquerader category had the highest diagnostic yield (n = 3/5, 60%), followed by the cryptogenic CP category (n = 7/24, 29%). Fifteen percent of patients with non‐cryptogenic CP (n = 3/20) had a Mendelian disorder on WES. Interpretation WES demonstrated a significant prevalence of Mendelian disorders in individuals clinically diagnosed with CP, including in individuals with known CP risk factors.

Published
2022
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2. Graduate Training in School Psychology: Applied Behavior Analysis and Autism Spectrum Disorder

Author

Amanda Paige Marshall

Abstract

The number of students with autism spectrum disorder (ASD) rises each year, along with a demand for use of evidence-based intervention (EBI) in schools. Applied behavior analysis (ABA) is widely recognized as an effective EBI for students with ASD, making it a skill that contributes to school psychologists' (SPs) effectiveness. This study reviewed SPs' professional self-efficacy across relevant domains, including ABA. The Applied Behavior Analysis Efficacy Scale (ABAES) was modeled after the Huber Inventory of Trainee Self-Efficacy (HITS). Contributions of training quality, amount of training, and knowledge of ASD to predicting professional self-efficacy measured by the HITS and ABAES were examined. Results indicated vicarious experiences during field training were the greatest predictor of self-efficacy in general duties and ABA-based tasks. Mastery experiences were found to predict self-efficacy in ABA based tasks and imaginal experiences were predictive of self-efficacy in general duties. Participant commentary indicated field experiences were the most impactful aspect of training but raised concerns about disparities in experience quality. Participants expressed feeling unprepared to address the needs of students with ASD. Participants included 189 females and 17 males, between 23 and 72 years of age. Most participants reported having four or more years of experience (n = 96), 44 reported less than four years, and 75 were interns, with 129 at the specialist level and 86 at the doctoral level. [The dissertation citations contained here are published with the permission of ProQuest LLC. Further reproduction is prohibited without permission. Copies of dissertations may be obtained by Telephone (800) 1-800-521-0600. Web page: http://www.proquest.com/en-US/products/dissertations/individuals.shtml.]

Published
2022

3. Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

Author

Matthew N, Bainbridge, Aloran, Mazumder, Daisuke, Ogasawara, Rami, Abou Jamra, Geneviève, Bernard, Enrico, Bertini, Lydie, Burglen, Heidi, Cope, Ali, Crawford, Alexa, Derksen, Leon, Dure, Emily, Gantz, Margarete, Koch-Hogrebe, Anna C E, Hurst, Sonal, Mahida, Paige, Marshall, Alessia, Micalizzi, Antonio, Novelli, Hongfan, Peng, Diana, Rodriguez, Shira L, Robbins, S Lane, Rutledge, Roberta, Scalise, Sophia, Schließke, Vandana, Shashi, Siddharth, Srivastava, Isabella, Thiffault, Sarah, Topol, Leila, Qebibo, Dagmar, Wieczorek, Benjamin, Cravatt, Svasti, Haricharan, Ali, Torkamani, and Rachel, Mahoney

Subjects
Heterozygote, Phenotype, Humans, Mutant Proteins, Neurology (clinical), Syndrome, Nervous System Diseases, Child, Endocannabinoids
Abstract

The endocannabinoid system is a highly conserved and ubiquitous signalling pathway with broad-ranging effects. Despite critical pathway functions, gene variants have not previously been conclusively linked to human disease. We identified nine children from eight families with heterozygous, de novo truncating variants in the last exon of DAGLA with a neuro-ocular phenotype characterized by developmental delay, ataxia and complex oculomotor abnormality. All children displayed paroxysms of nystagmus or eye deviation accompanied by compensatory head posture and worsened incoordination most frequently after waking. RNA sequencing showed clear expression of the truncated transcript and no differences were found between mutant and wild-type DAGLA activity. Immunofluorescence staining of patient-derived fibroblasts and HEK cells expressing the mutant protein showed distinct perinuclear aggregation not detected in control samples. This report establishes truncating variants in the last DAGLA exon as the cause of a unique paediatric syndrome. Because enzymatic activity was preserved, the observed mislocalization of the truncated protein may account for the observed phenotype. Potential mechanisms include DAGLA haploinsufficiency at the plasma membrane or dominant negative effect. To our knowledge, this is the first report directly linking an endocannabinoid system component with human genetic disease and sets the stage for potential future therapeutic avenues.

Published
2022

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