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PurposeThe rehabilitation of neurodevelopmental disabilities is a complex process aimed at enhancing children’s functional abilities, minimizing the impact of disabilities on family dynamics, and promoting autonomy in ...

IntroductionDevelopmental Language Disorder (DLD) is a common neurodevelopmental condition that affects both the structural and pragmatic aspects of language. Conversational abilities—including topic initiation, mainte...

Abstract A heated debate has been ongoing regarding the potential overlap in language disorders exhibited by children with developmental language disorder (DLD) and those with autism spectrum disorder plus language impai...

Background and purposeWe observed that some late-term fetal prenatal magnetic resonance imaging (MRI) scans revealed normal brain structures but exhibited diffuse hyperintense signals on T2-weighted imaging (T2WI) in the...

Introduction: Delay in language milestones is the most common developmental delay, and awareness is essential for early identification and appropriate intervention. Speech and language disorders are one of the main reaso...

Morphological phenotyping of genetically engineered or experimentally challenged mice is the first step in researching the causality of congenital malformations. Especially for spatially complex structures like the inner...

Background: Early childhood is a critical period for growth and development, during which delays in motor and developmental domains remain common. In Indonesia, a considerable proportion of children experience developmen...

Abstract Cell differentiation is a complex process characterized by specific gene expression patterns regulated through enhancer-promoter interactions within the three-dimensional architecture of the nucleus. The precise...

Abstract Pathogenic variants in CYFIP2 cause developmental and epileptic encephalopathy 65 (DEE65) and have been predominantly investigated in the context of central nervous system dysfunction. However, emerging clinical...

Background/objectivesNeurofibromatosis type 1 (NF1) is a common genetic disorder often accompanied by cognitive, behavioral, and neurodevelopmental disorders. While tumor-related manifestations are well-documented, less ...

Abstract Background Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a heterogeneous group of developmental disorders with diverse genetic etiologies. However, it remains unclear whether these geneti...

BackgroundAutistic children experience disproportionately high rates of malnutrition compared to non-autistic (NA) peers. Sensorimotor integration differences (SMD), prevalent in 69–95% of autistic individuals, are hyp...

A growing number of therapies are being developed to target the cell cycle machinery for the treatment of cancer and other human diseases. Consequently, a greater understanding of the factors regulating cell cycle progre...

Di(2-ethylhexyl) phthalate (DEHP) is a commonly used plasticizer that has raised significant concerns due to its strong endocrine-disrupting effects, which are closely associated with developmental toxicity. While previo...

Hoyeraal-Hreidarsson syndrome (HHS) represents the most severe form of dyskeratosis congenita (DC), a telomere biology disorder caused by pathogenic variants in genes involved in telomere maintenance. DKC1 encodes dysker...

Organotypic slice culture is a sophisticated technique historically used in cellular and developmental neurobiology to investigate three-dimensional architecture and cellular interactions. Maintaining thin tissue slices ...

Abstract Background SPTBN1 encodes βII-spectrin, a cytoskeletal protein essential for neuronal structure and function. Pathogenic variants in this gene cause a neurodevelopmental disorder known as DDISBA (Developmental ...

ABSTRACT Background and Aims Children's coagulation system undergoes dynamic changes during development, necessitating age‐specific reference intervals (RIs). This study aimed to establish RIs for 16 coagulation parame...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

Modern lifestyle factors, including dietary choices, significantly affect individual and intergenerational health. The widespread reliance on processed and takeout foods, along with the regular use of cosmetics and perso...

Craniofacial morphogenesis is a highly coordinated developmental process governed by complex genetic and molecular interactions. Among these, the PAX family of transcription factors plays a pivotal role in the regulation...

Abstract Purpose Cri-du-chat syndrome (OMIM 123450) is caused by a deletion of the short arm of chromosome 5 and characterized by a distinct high-pitched cry, developmental delay/intellectual disability, and various dysm...

IntroductionCertain events that occur in early life, such as changes in nutrition, can induce structural and functional modifications in brain development, leading to behavioral programing in the offspring. These effects...