Language Delay

BACKGROUND AND AIMS: Oral squamous cell carcinoma is the most prevalent malignancy in the oral cavity, with a significant mortality rate. In oral squamous cell carcinoma patients, the survival rate could decrease because of delayed diagnosis. Thus, prevention, early diagnosis, and appropriate treatment can effectively increase the survival rate in patients. In this systematic review, we discussed the role of different genes in oral squamous cell carcinoma metastasis. Herein, we aimed to summarize clinical results, regarding the potential genes that promote oral squamous cell carcinoma metastasis...

BACKGROUND AND OBJECTIVES: Older adults residing in residential aged care facilities (RACFs) often experience sub-standard transitions to emergency departments (EDs) through rationed and delayed ED care. We aimed to identify research describing interventions to improve transitions from RACFs to EDs. RESEARCH DESIGN AND METHODS: In our scoping review, we included English language articles that 1) examined an intervention to improve transitions from RACF to EDs, and 2) focused on older adults (>65 years)...

BACKGROUND: Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within the Boston Children's Hospital Intellectual and Developmental Disabilities Research Centers (IDDRC), including the NIH-sponsored natural history study of clinical, neurophysiological, neuroimaging, and molecular markers, patient-derived induced pluripotent stem cells (iPSC) characterization, and development of a murine model for tightly regulated, cell-specific gene therapy...

STUDY OBJECTIVES: To assess the possible brain abnormalities in adult patients with moderate and severe obstructive sleep apnea (OSA) using the mean kurtosis (MK) from diffusion kurtosis imaging (DKI) and analyze the correlation between MK and cognitive function. METHODS: A total of 30 patients with moderate and severe OSA and 30 healthy controls (HCs) evaluated by the Montreal Cognitive Assessment (MoCA) scale were enrolled. All subjects underwent DKI and 3D T1-weighted imaging (T1WI) on a 3...

BACKGROUND: This study aims to propose a semi-automatic method for monitoring the waiting times of follow-up examinations within the National Health System (NHS) in Italy, which is currently not possible to due the absence of the necessary structured information in the official databases. METHODS: A Natural Language Processing (NLP) based pipeline has been developed to extract the waiting time information from the text of referrals for follow-up examinations in the Lombardy Region...

NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5), is an autosomal recessive disorder that is characterized by intellectual disability (ID), postnatal growth retardation, dysmorphic facies, microcephaly, short stature, developmental delay, language impairment and other congenital abnormalities. The disease is caused by mutations in the NSUN2 gene, which encodes a tRNA cytosine methyltransferase that has an important role in spindle assembly during mitosis and chromosome segregation...

The neurodevelopmental hypothesis of schizophrenia represents the disorder as an expression of an alteration during the brain development process early in life. Neurodevelopmental variables could become a trait marker, and the study of these variables in children and adolescents at clinical high risk for psychosis (CHR) could identify a specific cluster of patients who later developed psychosis. The aim of this study is to describe clinical and neurodevelopment predictors of transition to psychosis in child and adolescent participants at CHR...

INTRODUCTION: Prenatal exposure to substance use is associated with long-term deficits in the neurodevelopment of children. The objective was to investigate the association between cognitive, motor, and language neurodevelopment at three years of age in infants prenatally exposed to substance use. MATERIAL AND METHODS: A prospective matched case-control study was conducted. Biomarkers of fetal exposure were measured in meconium samples. The Bayley Scales of Infant and Toddler Development (BSID-III) were used to calculate neurodevelopment scores...

BACKGROUND: Children born with a cleft palate with or without a cleft lip (CP/L) are at increased risk for delayed language development and speech sound disorders. Enhanced Milieu Teaching with Phonological Emphasis (EMT+PE) is a recommended naturalistic intervention for toddlers with CP/L. The parents' role in providing naturalistic interventions is critical and they need training based on learning principles to implement these interventions. Telepractice is an appropriate method for training parents and children with various speech-related disorders...

Screen exposure has both negative and positive effects on the level of language skills a child acquires. The purpose of this review is to address current literature on the possible relationship between unsupervised screen exposure and language development in children and to provide recommendations to caregivers regarding screen exposure of children, taking into consideration the possible effects. A scoping review was conducted using the PubMed/MEDLINE (Medical Literature Analysis and Retrieval System Online) database...

BACKGROUND: The autosomal recessive disorder N-acetylglutamate synthase (NAGS) deficiency is the rarest defect of the urea cycle, with an incidence of less than one in 2,000,000 live births. Hyperammonemic crises can be avoided in individuals with NAGS deficiency by the administration of carbamylglutamate (also known as carglumic acid), which activates carbamoyl phosphatase synthetase 1 (CPS1). The aim of this case series was to introduce additional cases of NAGS deficiency to the literature as well as to assess the role of nutrition management in conjunction with carbamylglutamate therapy across new and existing cases...

Ervin Bauer (1890-1938) made historical contributions to contemporary biology, provided a new definition of life, defined the contents of theoretical biology. He worked in different countries, perturbed by deep historical events. These historical events necessarily impacted his fate and finally led to the violent loss of his life and the life of his wife. His work and with it his theory of life had a no less complicated history than the history of his personal life. Bauer's main work "Theoretical Biology" was published in 1935 in Russian...

Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a rare autosomal recessive disorder due to a deficiency of α-aminoadipic semialdehyde dehydrogenase. This study aimed to systematically explore genotypic and phenotypic features and prognostic factors of neonatal-onset PDE. A literature search covering PubMed, Elsevier, and Web of Science was conducted from January 2006 to August 2023. We identified 56 eligible studies involving 169 patients and 334 alleles. The c.1279 G>C variant was the most common variant of neonatal-onset PDE (25...

Extensive research has shown that breastfeeding offers many benefits to children, including advantages in lifelong health, physical development, cognitive function, behavior, and brain development, compared to those not breastfed. In the Dominican Republic, the prevalence of exclusive breastfeeding among infants aged 0-6 months remains low, and the lack of a surveillance system has made it challenging to measure the impact of breastfeeding on early childhood development (ECD). This study aims to address the effect of ever breastfeeding on ECD...

BACKGROUND: In the global strategy to eliminate leprosy, there remains a need for early case detection to successfully interrupt transmissions. Poor knowledge about leprosy and leprosy-related stigma are key drivers of delayed diagnosis and treatment. Sensitization campaigns to inform and increase awareness among the general population are an integral part of many national neglected tropical disease programs. Despite their importance, the effectiveness of such campaigns has not been rigorously studied in the West African context...

Monogenic disorders account for a large proportion of population-attributable risk for neurodevelopmental disabilities. However, the data necessary to infer a causal relationship between a given genetic variant and a particular neurodevelopmental disorder is often lacking. Recognizing this scientific roadblock, 13 Intellectual and Developmental Disabilities Research Centers (IDDRCs) formed a consortium to create the Brain Gene Registry (BGR), a repository pairing clinical genetic data with phenotypic data from participants with variants in putative brain genes...

Pathogenic variants in SLC6A8, the gene which encodes creatine transporter SLC6A8, prevent creatine uptake in the brain and result in a variable degree of intellectual disability, behavioral disorders (e.g., autism spectrum disorder), epilepsy, and severe speech and language delay. There are no treatments to improve neurodevelopmental outcomes for creatine transporter deficiency (CTD). In this spotlight, we summarize recent advances in innovative molecules to treat CTD, with a focus on dodecyl creatine ester, the most promising drug candidate...

INTRODUCTION: Neonatal mortality is a global public health challenge. Guatemala has the fifth highest neonatal mortality rate in Latin America, and Indigenous communities are particularly impacted. This study aims to understand factors driving neonatal mortality rates among Maya Kaqchikel communities. METHODS: We used sequential explanatory mixed methods. The quantitative phase was a secondary analysis of 2014-2016 data from the Global Maternal and Newborn Health Registry from Chimaltenango, Guatemala...

BACKGROUND: Contrast-enhanced computed tomography (CECT) provides much more information compared to non-enhanced CT images, especially for the differentiation of malignancies, such as liver carcinomas. Contrast media injection phase information is usually missing on public datasets and not standardized in the clinic even in the same region and language. This is a barrier to effective use of available CECT images in clinical research. PURPOSE: The aim of this study is to detect contrast media injection phase from CT images by means of organ segmentation and machine learning algorithms...

BACKGROUND: Nurse-reported missed care (NRMC) is considered as any significant delay or omission in provision of nursing care. AIM: (i) Evaluate the frequency, types, and reasons for NRMC in the Post-anesthesia Care Unit (PACU). (ii) Evaluate associations between nurse demographic and workload factors with NRMC. (iii) Explore nurses' perception of NRMC in the PACU. METHODS: A cross-sectional study was conducted in the PACU in a tertiary acute care hospital over 3 months...