Profiling Adult L2 Readers in English Bridge Programs: A Not-So-Simple View of L1 Effect.

This study aimed to validate the Simple View of Reading (SVR) in L2 English readers with alphabetic and morphosyllabic L1 writing system backgrounds. Forty-five L2 English learners enrolled in American university bridge programs completed a set of tasks that measured real word decoding efficiency, pseudoword decoding efficiency, linguistic (listening) comprehension, passage reading comprehension, and word meaning inferencing. There were two major findings: (1) only pseudoword decoding efficiency predicted passage reading comprehension in learners with a morphosyllabic L1, whereas both pseudoword decoding efficiency and linguistic comprehension were significant predictors in learners with an alphabetic L1; (2) pseudoword decoding efficiency was a significant predictor of word meaning inferencing in learners with a morphosyllabic L1, and moderated the effect of real word decoding efficiency on word meaning inference in learners with an alphabetic L1. The findings indicate the complex relationships among word decoding, linguistic comprehension, and passage reading comprehension in adult L2 English learners.

Sport-related concussion: How best to help young athletes.

Increased focus on sports concussion means you're likely to see greater numbers of children and adolescents with mild brain trauma. Here's what to keep in mind.

Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes.

Disorders of cobalamin deficiency are a heterogeneous group of disorders with at least 19 autosomal recessive-associated genes. Familial samples of an infant who died due to presumed cobalamin deficiency were referred for clinical exome sequencing. The patient died before obtaining a blood sample or skin biopsy, autopsy was declined, and DNA yielded from the newborn screening blood spot was insufficient for diagnostic testing. Whole-exome sequencing of the mother, father, and unaffected sister and tailored bioinformatics analysis was applied to search for mutations in underlying disorders with recessive inheritance. This approach identified alterations within two genes, each of which was carried by one parent. The mother carried a missense alteration in the MTR gene (c.3518C>T; p.P1173L) which was absent in the father and the sister. The father carried a translational frameshift alteration in the LMBRD1 gene (c.1056delG; p.L352Lfs*18) which was absent in the mother and present in the heterozygous state in the sister. These mutations in the MTR (MIM# 156570) and LMBRD1 (MIM# 612625) genes have been described in patients with disorders of cobalamin metabolism complementation groups cblG and cblF, respectively. The child's clinical presentation and biochemical results demonstrated overlap with both cblG and cblF. Sanger sequencing using DNA from the infant's blood spot confirmed the inheritance of the two alterations in compound heterozygous form. We present the first example of exome sequencing leading to a diagnosis in the absence of the affected patient. Furthermore, the data support the possibility for potential digenic inheritance associated with cobalamin deficiency.