X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability by Verhoeven WM, Pfundt R, Engelke UF, Kluijtmans LA, Egger JI

“…Also, Whole Exome Sequencing (WES) and Next-Generation Metabolic Screening (NGMS) were performed.Results: Moderate intellectual disability along with obsessive and aggressive behaviour in the context of autism spectrum disorders was established as well as symptoms from the catatonic spectrum. With WES, a novel variant in the TMHLE gene was identified and using NGMS, increased concentration of trimethyllysine and decreased concentration of γ-butyrobetaine were found resulting in a significantly decreased BB/TML ratio, confirming the pathogenicity of this variant.Conclusion: X-linked autism type 6 is characterized by moderate intellectual disability and symptoms from the autism spectrum in the absence of any dysmorphisms. …”
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Alternative psychopharmacologic treatments for pediatric catatonia: a retrospective analysis by Joshua R. Smith, Joshua R. Smith, Isaac Baldwin, Tasia York, Carina Anderson, Trey McGonigle, Simon Vandekar, Lee Wachtel, James Luccarelli, James Luccarelli

“…. = 43.2, p < 0.001, 95% CI = (0.931,0.992)], indicating the average subject is expected to experience some improvement.DiscussionIn conclusion, all patients responded to these treatments with improvement in their catatonic symptoms. Alternative pharmacologic interventions for catatonia, including benzodiazepines other than lorazepam, valproic acid, NMDA receptor antagonists, and atypical antipsychotics were safe and effective in treating catatonia in this population.…”
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