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Biomedical subjects

Scott M Myers

Publications and source records attributed to Scott M Myers.

5 recordsLinked to original sources
PubMed2025

Monogenic disorders associated with motor speech phenotypes in children and adolescents undergoing clinical exome sequencing.

PURPOSE: Prior studies investigating the genetic architecture of pediatric motor speech disorders (MSDs) have been limited by small sample sizes and an exclusive focus on apraxia. We aimed to identify pathogenic genomic variants associated with MSDs in a large pediatric population referred for exome sequencing (ES). METHODS: We identified pediatric patients with MSDs who had clinical ES between 2012 and 2022. The rate of pathogenic/likely pathogenic (P/LP) findings considered causative of the MSD phenotype was determined and delineated by sex and neurodevelopmental comorbidity. Gene-based burden testing compared the rate of P/LP variants in each gene in MSD cases with a comparison clinical ES cohort. RESULTS: Positive diagnostic results were detected in 527 of 2004 (26.3%) patients with MSDs, with higher diagnostic rates in females and individuals with neurodevelopmental comorbidities. P/LP sequence variants were detected in 262 genes. Gene-based case-referent burden analysis revealed that 30 genes were nominally associated with MSDs, 2 of which (SETBP1 and ADCY5) survived exome-wide correction. CONCLUSION: Over 25% of patients with MSDs were found to harbor P/LP variants in 262 genes, many of which have not previously been associated with MSDs. Potential clinical implications include early implementation of intensive speech therapy for children diagnosed with monogenic causes of MSDs.

Humans↗
PubMed2003

Reserpine responsive myoclonus and hyperpyrexia in a patient with Angelman syndrome.

A case of an older patient with the Angelman syndrome due to a deletion at the 15q11-q13 region is presented. The patient demonstrated generalized prolonged myoclonus severe enough to produce temperatures of 41.4 degrees C and CPK elevations to 7281 U/l. This myoclonus was unresponsive to benztropine, clonazepam and worsened with bromocriptine. It resolved with sleep induced by either lorazepam or diphenhydramine and during treatment with reserpine. Once discharged from the hospital and treated with reserpine, there were much less frequent recurrences of the myoclonus that responded well to concomitant treatment with clonazepam. Later attempts to reduce the reserpine resulted in worsening of the myoclonus. Older patients with Angelman syndrome may display a wide variety of neurologic syndromes. This severe myoclonus in this patient worsened with dopamine agonist treatment and initially improved with dopamine depletion therapy while in the long-term responding best to a combination of clonazepam and reserpine.

Adult↗
PubMed2002

Testicular torsion in an adolescent with Fragile X Syndrome.

Fragile X syndrome (FraX) is the most common hereditary form of mental retardation. The clinical syndrome includes mental retardation, macroorchidism, and typical but variable facial features. Although macroorchidism has been recognized as a cardinal feature of FraX, descriptions of testicular pathology are rare. Testicular torsion is a relatively common surgical emergency in young men, peaking at the onset of puberty when the testes undergo a period of rapid growth. However, testicular torsion has never been associated with macroorchidism. We report the first known case of testicular torsion in a 14-year-old boy with FraX and macroorchidism. Although we are unable to establish a definitive relationship between macroorchidism and testicular torsion in an isolated case report, primary care takers of children with macroorchidism should be aware of this occurrence. We recommend measurement of testicular volume during annual evaluations of children and adolescents with macroorchidism. Acute scrotal pain or increased testicular volume should be promptly evaluated.

Adolescent↗