American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone +13 more
wiley +1 more source
Exploring the perceptions and cultural differences surrounding mindfulness among early childhood education informal caregivers: A qualitative study. [PDF]
J Educ Health PromotVillalobos JP, Valverde PA, Farewell CV.
europepmc +1 more source
Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison +3 more
wiley +1 more source
Structural Equality and Support Index in Early Childhood Education.
JAMA Netw OpenMorency MM +4 more
europepmc +1 more source
Enhancing computational thinking in early childhood education with educational robotics: A meta-analysis. [PDF]
HeliyonAlonso-García S +3 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite
Zantasha Khalid +16 more
wiley +1 more source
CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett +4 more
wiley +1 more source
Marketing violations involving products that compete with breastfeeding in the vicinity of early childhood education centers and health centers: a cross-sectional study based on an audit of the retail food environment, Maceió, 2022-2023. [PDF]
Epidemiol Serv SaudeBastos ECL +4 more
europepmc +1 more source