Dezvoltare și sprijin pentru sindromul Down.
57 de articoleThis systematic review synthesizes research on how performing cognitive tasks simultaneously affects balance and walking abilities in people with Down syndrome. The study examines evidence-based findings on dual-task interference and its implications for motor control assessment and intervention in this population.
This study uses cerebellar organoids and neural cultures to show that trisomy 21 causes extracellular matrix alterations that impair apical progenitor cell organization and reduce RAB11+ endosomes, leading to disrupted neural stem cell integrity. Supplementing cultures with extracellular matrix partially rescues these defects, demonstrating a functional role for ECM in maintaining proper apical organization during Down syndrome brain development.
Children with Down syndrome may have altered immune responses to routine vaccinations despite complete immunization records, resulting in inadequate protection against infections. This case describes a 5-year-old with Down syndrome who experienced recurrent respiratory infections despite adherence to standard vaccination schedules; additional pneumococcal vaccination led to notable clinical improvement, suggesting the value of immunology consultation and individualized vaccine response monitoring in this population.
Researchers established an integration-free iPSC line (KSCBi024-A) from blood cells of a 13-year-old boy with Down syndrome using episomal reprogramming vectors. The cells express pluripotency markers and can differentiate into multiple cell types, providing a valuable resource for studying trisomy 21 cellular mechanisms.
This large German study of 46,362 individuals with Down syndrome found lower overall cancer prevalence compared to matched controls, but significantly elevated risks for hematologic malignancies and testicular cancer, while breast, digestive, and skin cancers were less frequent. Notably, individuals with Down syndrome participated in cancer screening programs at substantially lower rates, highlighting a gap in preventive care access and adherence.
This scientific review synthesizes findings from brain, cerebrospinal fluid, and blood-based proteomic studies to characterize molecular pathways underlying Alzheimer's disease in Down syndrome, with focus on disruption of proteostasis, mitochondrial function, and immune signaling. The analysis positions Down syndrome-associated Alzheimer's disease as a network-level disorder where amyloid and tau pathology interact with immune responses, providing insights applicable to broader Alzheimer's disease biology.
Researchers identified elevated necroptosis markers (RIPK1, RIPK3, MLKL, and lncRNA MEG) in brains of aged Ts65dn mice and post-mortem tissue from Down syndrome subjects, suggesting this controlled cell death pathway may contribute to neuronal loss in DS. These findings propose necroptosis as a potential therapeutic target for developing new treatments in Down syndrome.
This systematic scoping review of 40 peer-reviewed studies (2008-2024) examined social cognition development in children and adolescents with Down syndrome, finding that language is the primary factor influencing social cognitive development rather than age alone. Individuals with Down syndrome demonstrate challenges in social cognition and emotion processing compared to typical development, with the review calling for more longitudinal research to clarify developmental trajectories and inform educational and clinical interventions.
A cross-sectional study of 268 pregnant women examined the prevalence of Down syndrome screening using dual and quadruple serum marker tests during weeks 11-22 of gestation. Among 200 screened women (74.63%), 84% showed low-risk results and 16% showed high-risk results, with findings comparable to similar institutional studies.
Children with Down syndrome (Trisomy 21) commonly present with various ocular complications including strabismus, nystagmus, refractive errors, congenital cataracts, keratoconus, and reduced visual acuity. Early ophthalmic examination and prompt intervention are essential for diagnosis and management of these vision-related manifestations.
This editorial addresses endocrine complications commonly associated with Down syndrome, including thyroid dysfunction, metabolic issues, and growth abnormalities. The piece discusses clinical manifestations and management considerations for healthcare providers treating individuals with Down syndrome across the lifespan.
Individuals with Down syndrome experience dysregulation of both innate and adaptive immune systems, resulting in increased susceptibility to autoimmunity and severe infections compared to the general population. Documented immune alterations include elevated cytokine levels, increased interferon signaling, shifts toward memory T-cell phenotypes, and reduced B-cell compartment size, which contribute to both autoinflammatory conditions and heightened infection severity.
This case report describes a 10-year-old girl with Down syndrome presenting with abnormal gait and ataxia caused by atlantoaxial subluxation, a known complication resulting from ligament laxity and odontoid dysplasia. The condition was surgically managed after diagnosis through imaging.
A 14-year-old boy with Down syndrome developed severe hyperphagia between ages 10-12, with BMI increasing significantly despite adequate nutrition, accompanied by compulsive eating patterns and food-related behavioral aggression. Treatment involved evidence-based behavioral interventions including token economy systems, structured meal scheduling, coping skills training, and communication supports to address eating behaviors.
Down syndrome is the most common chromosomal abnormality causing intellectual disability in liveborn infants, but children with appropriate medical care and support can achieve fulfilling lives and reach their potential. The article advocates for increased awareness of Down syndrome's genetic causes, associated health conditions, and developmental delays through experience-based learning at a care facility.
This study compared interhemispheric communication efficiency between 11 individuals with Down syndrome and 13 controls using a fingertip cross-localization test. Results showed significantly reduced interhemispheric transfer efficiency in the Down syndrome group, suggesting potential corpus callosum dysfunction that may contribute to cognitive development differences.
This scoping review systematically analyzed existing research on bone growth, development, maintenance, and repair in individuals with Trisomy 21 (Down syndrome), identifying 16 relevant articles. Animal model studies revealed differences in bone development and reduced bone maintenance/repair, with evidence of osteoporotic bone phenotype in both male and female mice, highlighting the need for further understanding of bone health complications in this population.
This clinical study documents a congenital dermatological finding in 39 children with Down syndrome characterized by rough, brownish skin in knee and elbow dimples, confirmed by dermoscopy and biopsy showing hyperkeratosis and papillomatosis. The condition was observed to resolve spontaneously in followed cases and may represent a characteristic skin marker associated with Down syndrome.