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Pattern visual evoked potentials can objectively measure the effects of retinal gene therapy on retinogeniculostriate function in young children with early-onset inherited retinal dystrophies.
Gut microbiota and associated immune responses seem to have a significant role in influencing brain development and function. What does this mean for the treatment of neurodevelopmental disorders and epileptic syndromes?
Expert practical recommendations on using fenfluramine, which is the latest therapeutic option for seizure management in Dravet syndrome and Lennox–Gastaut syndrome.
Children with inflammatory bowel disease show signs of impaired growth in the years before diagnosis, with the most pronounced changes found in those with Crohn’s disease.
CPS are genetic disorders that significantly increase the risk of developing malignancies. The malignant features of CPS are well-studied, but recognizing their non-malignant features is crucial for early diagnosis in children and adolescents.
Growing numbers of young people are using e-cigarettes, despite warnings of respiratory effects and addiction. How can doctors tackle the epidemic, and what health effects should you prepare to manage in your clinics?
An adult with trisomy 21 presented with ongoing lower abdomen pain. A CT scan revealed an arteriovenous malformation and a coexisting iliac aneurysm. Co-existence of these two rare conditions is highly unusual.
Vitamin D-dependent rickets type 1 A causes failure to thrive, hypotonia, and increased fracture risk, and may complicate the clinical course of lower respiratory tract infections. How would you address the therapeutic challenges in this toddler?
A diagnosis of glycogen storage disease type IX is easy to overlook, but it should be considered in children presenting with unexplained hepatomegaly and elevated transaminase levels. Genetic analysis is vital for accurate diagnosis.
It is now well accepted that germline or de novo genetic alterations predispose to cancer development, especially during childhood. Among them, constitutive trisomy 21, also known as Down syndrome (DS), has been shown to predispose to acute …
Noonan syndrome (NS) is a RASopathy, a group of genetic disorders caused by alterations in the RAS/MAPK signalling pathway, and is associated with brain-related disorders, including intellectual developmental disorder (IDD), autism spectrum …
Epigenetic mechanisms, including DNA methylation, act at the interface of genes and environment by allowing a static genome to respond and adapt to a dynamic environment during the lifespan of an individual. Genome-wide DNA methylation analyses on …
The most common genetic cause of intellectual and developmental disability is trisomy of human chromosome 21 (trisomy 21) or Down syndrome. Relative to the general population, individuals with Down syndrome heterogeneously experience atypical …
This study examined the clinical, genetic, and treatment response characteristics of pediatric patients with acute myeloid leukemia (AML) treated according to the 2004 and 2012 AML-BFM protocols. This study aimed to determine survival outcomes and …
Restrictive cerebral venopathy was recently described in a young patient with cerebral venous ischemia, elevated intracranial pressure, and intracranial calcifications. It was anatomically characterized by extensive formation of tortuous small to …
Down syndrome (DS) is a common genetic condition caused by trisomy of chromosome 21, with an incidence of 1 in every 700 births [ 1 ]. Individuals with DS are at risk for a variety of medical issues over the lifespan, including neurological …
Oral decitabine/cedazuridine has been studied in chronic myelomonocytic leukemia (CMML) recently but the molecular changes during this treatment have not been reported so far. We report a CMML patient who was treated with oral …