Within- and cross-language contributions of morphological awareness to word reading development in Chinese-English bilingual children

A growing body of cross-linguistic research has suggested that morphological awareness plays a key role in both L1 and L2 word reading among bilingual readers. However, little is known about the interaction and development of L1 and L2 morphological awareness in relation to word reading. We addressed this issue by evaluating the unique contributions of L1 Chinese and L2 English morphological awareness to word reading in both Chinese and English across Grades 2 (N = 150), 5 (N = 158), and 8 (N = 159) Hong Kong Chinese–English bilingual children. Children completed five tasks of Chinese morphological awareness which tapped for compounding awareness, homophone awareness, homographic awareness, semantic radical awareness, and affix awareness, and six English morphological judgment and analogy tasks that assessed morphological awareness at three levels: inflection, derivation, and compounding. English phonological awareness, Chinese and English vocabulary, and nonverbal ability were measured as controls. Word reading was assessed in both languages. Within-language analyses revealed that Chinese morphological awareness accounted for 27, 22, and 12% of unique variances in Chinese word reading above the control measures in Grades 2, 5, and 8 respectively. In contrast, English morphological awareness explained small but significant unique variances in English word reading, i.e., 4, 8, and 2%, across Grades 2, 5, and 8 respectively. Critically, there were cross-language influences: Chinese morphological awareness explained 4% of unique variance in English word reading in Grade 2 after controlling for IQ, English vocabulary, English phonological awareness, and English morphological awareness; English morphological awareness explained significant variances in Chinese word reading, i.e., 4, 3, and 4% in Grades 2, 5, and 8 respectively, after the relevant controls. These findings suggest a bi-directional cross-language transfer of morphological awareness to word reading in L1 Chinese and L2 English. However, the direction of its transfer may be constrained by some language-specific morphological features

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare childhood leukoencephalopathy caused by heterozygous mutations in the TUBB4A beta-tubulin gene. Hamilton et al. describe the clinical spectrum and genotype-phenotype correlation in 42 patients, and reveal extrapyramidal movement abnormalities to be the core feature of the disease.Hypomyelination with atrophy of the basal ganglia and cerebellum is a rare leukoencephalopathy that was identified using magnetic resonance imaging in 2002. In 2013, whole exome sequencing of 11 patients with the disease revealed that they all had the same de novo mutation in TUBB4A, which encodes tubulin beta-4A. We investigated the mutation spectrum in a cohort of 42 patients and the relationship between genotype and phenotype. Patients were selected on the basis of clinical and magnetic resonance imaging abnormalities that are indicative of hypomyelination with atrophy of the basal ganglia and cerebellum. Genetic testing and a clinical inventory were performed, and sequential magnetic resonance images were evaluated using a standard protocol. The heterozygous TUBB4A mutation observed in the first 11 patients was the most common (25 patients). Additionally, 13 other heterozygous mutations were identified, located in different structural domains of tubulin beta-4A. We confirmed that the mutations were de novo in all but three patients. In two of these three cases we lacked parental DNA and in one the mutation was also found in the mother, most likely due to mosaicism. Patients showed a phenotypic continuum ranging from neonatal to childhood disease onset, normal to delayed early development and slow to more rapid neurological deterioration. Neurological symptomatology consisted of extrapyramidal movement abnormalities, spasticity, ataxia, cognitive deficit and sometimes epilepsy. Three patients died and the oldest living patient was 29 years of age. The patients' magnetic resonance images showed an absent or disappearing putamen, variable cerebellar atrophy and highly variable cerebral atrophy. Apart from hypomyelination, myelin loss was evident in several cases. Three severely affected patients had similar, somewhat atypical magnetic resonance image abnormalities. The study results were strongly suggestive of a genotype-phenotype correlation. The 25 patients with the common c.745G > A mutation generally had a less rapidly progressive disease course than the 17 cases with other TUBB4A mutations. Overall, this work demonstrates that the distinctive magnetic resonance imaging pattern for hypomyelination with atrophy of the basal ganglia and cerebellum defines a homogeneous clinical phenotype of variable severity. Patients almost invariably have prominent extrapyramidal movement abnormalities, which are rarely seen in patients with hypomyelination of different origin. A dominant TUBB4A mutation is also associated with dystonia type 4, in which magnetic resonance images of the brain seem normal. It is highly likely that there is a disease continuum associated with TUBB4A mutations, of which hypomyelination with atrophy of the basal ganglia and cerebellum and dystonia type 4 are the extremes. This would indicate that extrapyramidal movement abnormalities constitute the core feature of the disease spectrum related to dominant TUBB4A mutations and that all other features are variable

Markers of Successful Extubation in Extremely Preterm Infants, and Morbidity After Failed Extubation

To identify variables associated with successful elective extubation, and to determine neonatal morbidities associated with extubation failure in extremely preterm neonates. This study was a secondary analysis of the National Institute of Child Health and Human Development Neonatal Research Network's Surfactant, Positive Pressure, and Oxygenation Randomized Trial that included extremely preterm infants born at 240/7 to 276/7 weeks' gestation. Patients were randomized either to a permissive ventilatory strategy (continuous positive airway pressure group) or intubation followed by early surfactant (surfactant group). There were prespecified intubation and extubation criteria. Extubation failure was defined as reintubation within 5 days of extubation. Of 1316 infants in the trial, 1071 were eligible; 926 infants had data available on extubation status; 538 were successful and 388 failed extubation. The rate of successful extubation was 50% (188/374) in the continuous positive airway pressure group and 63% (350/552) in the surfactant group. Successful extubation was associated with higher 5-minute Apgar score, and pH prior to extubation, lower peak fraction of inspired oxygen within the first 24 hours of age and prior to extubation, lower partial pressure of carbon dioxide prior to extubation, and non-small for gestational age status after adjustment for the randomization group assignment. Infants who failed extubation had higher adjusted rates of mortality (OR 2.89), bronchopulmonary dysplasia (OR 3.06), and death/ bronchopulmonary dysplasia (OR 3.27). Higher 5-minute Apgar score, and pH prior to extubation, lower peak fraction of inspired oxygen within first 24 hours of age, lower partial pressure of carbon dioxide and fraction of inspired oxygen prior to extubation, and nonsmall for gestational age status were associated with successful extubation. Failed extubation was associated with significantly higher likelihood of mortality and morbidities. ClinicalTrials.gov: NCT00233324