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Writing development in children with hearing loss, dyslexia, or oral language problems : implications for assessment and instruction
Writing plays a key role in society. Yet, many children struggle in learning to write, and often this is related to difficulties in the development of their oral-language skills. For students with oral language difficulties text production is particularly challenging, yet there have been few attempts to consider the impact of different oral language problems on the production of written text. This book focuses on the relationship between oral language problems and writing problems for children with hearing loss, those with oral-language difficulties and those with dyslexia. The causes and nature of their writing problems are examined by experts in the fields. Authors from three continents and nine countries contributed their research to extend our understanding of the problems that these children face. The collection provides timely information across languages and countries, enhancing our understanding of the links between oral language problems and writing, informing both writing assessment and intervention.
eBook
Environmental Sex Determination in the Branchiopod Crustacean Daphnia magna: Deep Conservation of a Doublesex Gene in the Sex-Determining Pathway
Sex-determining mechanisms are diverse among animal lineages and can be broadly divided into two major categories: genetic and environmental. In contrast to genetic sex determination (GSD), little is known about the molecular mechanisms underlying environmental sex determination (ESD). The Doublesex (Dsx) genes play an important role in controlling sexual dimorphism in genetic sex-determining organisms such as nematodes, insects, and vertebrates. Here we report the identification of two Dsx genes from Daphnia magna, a freshwater branchiopod crustacean that parthenogenetically produces males in response to environmental cues. One of these genes, designated DapmaDsx1, is responsible for the male trait development when expressed during environmental sex determination. The domain organization of DapmaDsx1 was similar to that of Dsx from insects, which are thought to be the sister group of branchiopod crustaceans. Intriguingly, the molecular basis for sexually dimorphic expression of DapmaDsx1 is different from that of insects. Rather than being regulated sex-specifically at the level of pre-mRNA splicing in the coding region, DapmaDsx1 exhibits sexually dimorphic differences in the abundance of its transcripts. During embryogenesis, expression of DapmaDsx1 was increased only in males and its transcripts were primarily detected in male-specific structures. Knock-down of DapmaDsx1 in male embryos resulted in the production of female traits including ovarian maturation, whereas ectopic expression of DapmaDsx1 in female embryos resulted in the development of male-like phenotypes. Expression patterns of another D. magna Dsx gene, DapmaDsx2, were similar to those of DapmaDsx1, but silencing and overexpression of this gene did not induce any clear phenotypic changes. These results establish DapmaDsx1 as a key regulator of the male phenotype. Our findings reveal how ESD is implemented by selective expression of a fundamental genetic component that is functionally conserved in animals using GSD. We infer that there is an ancient, previously unidentified link between genetic and environmental sex determination.
Journal Article
Gastrointestinal Problems in Children with Autism, Developmental Delays or Typical Development
To compare gastrointestinal (GI) problems among children with: (1) autism spectrum disorder (ASD), (2) developmental delay (DD) and (3) typical development (TD), GI symptom frequencies were obtained for 960 children from the CHildhood Autism Risks from Genetics and Environment (CHARGE) study. We also examined scores on five Aberrant Behavior Checklist (ABC) subscales comparing ASD children with high versus low frequency GI symptoms. Compared to TD children, those with ASD [aOR 7.92 (4.89–12.85)] and DD [aOR 4.55 (2.51–8.24)] were more likely to have at least one frequent GI symptom. Restricting to ASD children, those with frequent abdominal pain, gaseousness, diarrhea, constipation or pain on stooling scored worse on irritability, social withdrawal, stereotypy, and hyperactivity compared with children having no frequent GI symptoms. Frequent GI problems affect young children with ASD and DD more commonly than those with TD. Maladaptive behaviors correlate with GI problems, suggesting these comorbidities require attention.
Journal Article
Reach-to-grasp behavior : brain, behavior, and modelling across the life span
Reaching for objects in our surroundings is an everyday activity that most humans perform seamlessly a hundred times a day. It is nonetheless a complex behaviour that requires the perception of objects' features, action selection, movement planning, multi-joint coordination, force regulation and the integration of all of these properties during the actions themselves to meet the successful demands of extremely varied task goals. Even though reach-to-grasp behaviour has been studied for decades, it has, in recent years, become a particularly growing area of multidisciplinary research because of its crucial role in activities of daily living and broad range of applications to other fields. This volume brings together novel and exciting research that sheds light into the complex sensory-motor processes involved in the selection and production of reach-to-grasp behaviours.
Book
The efficacy of swimming therapy for infants with Graf II developmental dysplasia of the hip (DDH): protocol for a randomized controlled trial
Background
Developmental dysplasia of the hip (DDH) is the most common musculoskeletal disorder in the neonatal period, which is usually screened using ultrasound. Infants diagnosed with Graf II (a, b, c) type DDH generally undergo treatment with the Pavlik harness at 6 weeks of age. The Pavlik harness can affect the quality of life of infants. Swimming therapy has been shown to enhance neuromotor development and muscle coordination in typical infants. For infants with specific motor disorders such as cerebral palsy, it can also reduce joint load through water buoyancy and improve gross motor function. However, this evidence is derived from populations with clinical characteristics different from those of infants with Graf II type DDH. Its role in key rehabilitation areas for DDH infants, such as regulating hip biomechanics and promoting acetabular development, has not been systematically explored. Therefore, the efficacy of swimming therapy in infants with Graf II type DDH remains unclear. This study aims to explore the efficacy of this therapy in infants with Graf II type DDH and investigate whether it can be used as a new or supplementary clinical treatment method.
Methods
This study is a randomized, prospective clinical trial with a sample size of 136, which was calculated based on previous studies with an alpha risk of 0.05, a beta risk of 0.20, and a 15% follow-up loss assumption. Children will be randomly divided into two groups. The control group will receive the Pavlik harness, while the swimming group will receive 2 swimming sessions per week in addition to the Pavlik harness. Follow-up duration ranges from 6 weeks to 6 months after birth. Primary outcomes include changes in hip α angle after 20 weeks of intervention, assessed using weekly ultrasound. Secondary outcomes include β-angle improvement rate, duration of brace use, surgery conversion rate, and the incidence of adverse events. We employ analysis of covariance (ANCOVA) to adjust for baseline differences and intention-to-treat (ITT) principles and handle missing data. Parametric/non-parametric tests will be used based on data normality.
Discussion
This study aims to evaluate the effects of swimming intervention on DDH and clarify the safety of swimming therapy.
Trial registration
This study was registered with the Chinese Clinical Trial Registry, registration number: ChiCTR2400088288, registration date: August 15, 2024.
Journal Article
NANS-mediated synthesis of sialic acid is required for brain and skeletal development
Andrea Superti-Furga, Ron Wevers, Clara van Karnebeek, Luisa Bonafé and colleagues identify mutations in
NANS
, which encodes the sialic acid synthase, in nine individuals with severe infantile-onset developmental delay and skeletal dysplasia. They describe abnormal metabolites accumulating because of deficient NANS enzyme activity and show that impaired sialic acid synthesis in zebrafish perturbs skeletal development, which can partially be rescued by supplementation with exogenous sialic acid.
We identified biallelic mutations in
NANS
, the gene encoding the synthase for
N
-acetylneuraminic acid (NeuNAc; sialic acid), in nine individuals with infantile-onset severe developmental delay and skeletal dysplasia. Patient body fluids showed an elevation in
N
-acetyl-
D
-mannosamine levels, and patient-derived fibroblasts had reduced NANS activity and were unable to incorporate sialic acid precursors into sialylated glycoproteins. Knockdown of
nansa
in zebrafish embryos resulted in abnormal skeletal development, and exogenously added sialic acid partially rescued the skeletal phenotype. Thus, NANS-mediated synthesis of sialic acid is required for early brain development and skeletal growth. Normal sialylation of plasma proteins was observed in spite of NANS deficiency. Exploration of endogenous synthesis, nutritional absorption, and rescue pathways for sialic acid in different tissues and developmental phases is warranted to design therapeutic strategies to counteract NANS deficiency and to shed light on sialic acid metabolism and its implications for human nutrition.
Journal Article