Results 171 to 180 of about 165,146 (288)

Oral microbiota characteristics in children younger than 3 years with febrile seizures: a prospective observational study. [PDF]

BMC Microbiol
Shen N, Shan X, Zheng L, Qiao J, Jiang Y, Wu R, Ning T, Liu S, Dong C, Yan J, Lu T, Zhu S.   +11 more
europepmc   +1 more source

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory

Clinical Genetics, EarlyView.
Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco, Malin Kvarnung, Anna Hammarsjö, Daniel Nilsson, Bianca Tesi, Britt Marie Anderlid, Giedre Grigelioniene, Maria Johansson Soller, Liselot van der Laan, Charlotte Willfors, Charlotta Ingvoldstad Malmgren, Anna Lindstrand, Tommy Stödberg, Ann Nordgren, Angelica Maria Delgado‐Vega   +14 more
wiley   +1 more source

Correction: The genotypic spectrum of complex febrile seizures: insights from high-risk population genetic screening in a pediatric cohort. [PDF]

Front Neurosci
Deng X, Xu Y, Chen X, Pan J, Huang S, Sun D.   +5 more
europepmc   +1 more source

Challenges in Gene‐Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar

Clinical Genetics, EarlyView.
Beyond diagnosing rare neurodevelopmental disorders like HNRNPU‐RNDD, developing gene‐directed therapies requires overcoming complex hurdles, including spatial, developmental, and cell‐type constraints. Addressing these requires understanding the molecular effects of dosage and chromatin dynamics to deliver precise, effective treatments.
Daniel Aiyedun, Susan F. Rogers, Doaa M. Taha, Meena Balasubramanian   +3 more
wiley   +1 more source

Febrile Seizures and Subsequent Autism Spectrum Disorder: A Nationwide Population-Based Cohort Study. [PDF]

Children (Basel)
Tsai YH, Huang GS, Hu MH.
europepmc   +1 more source

Socioeconomic status, environmental factors, and motor function in children with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate the association between socioeconomic status and cerebral palsy (CP) motor function, adjusting for known clinical and candidate environmental risk factors, that is, air pollution and distance to a children's treatment center (CTC).
Hana F Alazem, Ewa Sucha, Richard J Webster, Michelle L Larin, Anna M McCormick, Darcy L Fehlings, CP‐NET Group, Craig Campbell, Jan Willem Gorter, Carolyn Hunt, Anita Jethwa, Anne Kawamura, Marie Kim, Ronit Mesterman, Dawa Samdup   +14 more
wiley   +1 more source

The genotypic spectrum of complex febrile seizures: insights from high-risk population genetic screening in a pediatric cohort. [PDF]

Front Neurosci
Deng X, Xu Y, Chen X, Pan J, Huang S, Sun D.   +5 more
europepmc   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

The effect of family continuity management on the anxiety level of parents of children with febrile seizures and recurrence rate. [PDF]

Front Med (Lausanne)
Xu X, Chen Y, Zhong L, Hong L, Jin X, Miao H, Feng L, Bai P, Xu D, Chen R.   +9 more
europepmc   +1 more source

Neurodevelopmental and neurological features in children with hypochondroplasia

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To assess neurodevelopmental and neurological features, including neuroimaging abnormalities, in children with molecularly confirmed hypochondroplasia. Method A retrospective cohort study of children with molecularly confirmed hypochondroplasia seen at Evelina London Children's Hospital skeletal dysplasia service was performed.
Megan F. Baxter, Rhoda Akilapa, Alessandra Cocca, Melita D. Irving   +3 more
wiley   +1 more source