FOXP1 syndrome is a neurodevelopmental disorder caused by mutations or deletions that disrupt the forkhead box protein 1 (FOXP1) gene, which encodes a transcription factor important for the early development of many organ systems, including the brain. Numerous clinical studies have elucidated the role of FOXP1 in neurodevelopment and have characterized a phenotype. FOXP1 syndrome is associated with intellectual disability, language deficits, autism spectrum disorder, hypotonia, and congenital anomalies, including mild dysmorphic features, and brain, cardiac, and urogenital abnormalities. Here, we present a review of human studies summarizing the clinical features of individuals with FOXP1 syndrome and enlist a multidisciplinary group of clinicians (pediatrics, genetics, psychiatry, neurology, cardiology, endocrinology, nephrology, and psychology) to provide recommendations for the assessment of FOXP1 syndrome.
Objectives. To evaluate the effect of pneumococcal conjugate vaccine (PCV13) on the burden of acute otitis media (AOM) and to evaluate the characteristics of AOM versus otitis media with effusion (OME) in the 2 PCV periods. Methods. A cohort of fully vaccinated children aged 18 to 60 months diagnosed with AOM from 2006 to 2015 was identified. Patients with otorrhea/bulging tympanic membrane were considered as true AOM, while those without bulging/otorrhea were considered to have OME. Burden of true AOM in the PCV7 and PCV13 periods and clinical features of true AOM versus OME were compared. Results. Of 393 episodes in our cohort, 50.8% occurred in PCV7 period. Burden of true AOM in the 2 PCV groups was similar: 26% in PCV7 versus 26.4% in PCV13 (odds ratio [OR] = 1.02, 95% confidence interval [CI] = 0.65-1.60). Factors significantly associated with OME were cold season (OR = 1.54, 95% CI = 1.04-2.4), fever (OR = 2.05, 95% CI = 1.29-3.3), and recurrence (OR = 2.24, 95% CI = 1.22-4.09). No complications of AOM were identified. Majority episodes were treated with antibiotics. Conclusion. Unlike the role of PCV13 in reducing invasive pneumococcal disease, its effect on reducing the burden of AOM is minimal as compared with PCV7. With regard to characteristics of AOM versus OME, findings of tympanic membrane should be used to suggest a diagnosis of AOM, instead of occurrence of fever or recurrence of AOM episodes. Using this approach would help in guiding the use of antibiotics appropriately.
Purpose of reviewThe present review summarizes recent advances in the diagnosis and management of patients with X-linked adrenoleukodystrophy (ALD).Recent findingsAlthough ALD screening has been on the list of Recommended Uniform Screening Panel since 2016, only 30 states in the United States are currently testing their newborns for this disease. Hematopoietic stem cell transplant (HSCT) remains the only successful treatment option available for early cerebral ALD but does not reverse neurological changes or affect the course of adrenal insufficiency. There remains a significant knowledge gap in our understanding and treatment of this disease. Novel therapies such as gene therapy and gene editing have shown promising results in animal models and are exciting potential treatment options for the future.Recently, the American Academy of Neurologists released their consensus guidelines on the diagnosis, surveillance, and management of ALD.SummaryEarly diagnosis and HSCT are key to improving the morbidity and mortality associated with ALD. The implementation of universal newborn screening for ALD and rigorous investigations of novel diagnostic and therapeutic agents is the need of the hour.
Background Phelan–McDermid syndrome (PMS) is caused by 22q13 deletions including SHANK3 or pathogenic sequence variants in SHANK3 and is among the more common rare genetic findings in autism spectrum disorder (ASD). SHANK3 is critical for synaptic function, and preclinical and clinical studies suggest that insulin-like growth factor-1 (IGF-1) can reverse a range of deficits in PMS. IGF-1 release is stimulated by growth hormone secretion from the anterior pituitary gland, and this study sought to assess the feasibility of increasing IGF-1 levels through recombinant human growth hormone (rhGH) treatment, in addition to establishing safety and exploring efficacy of rhGH in children with PMS. Methods rhGH was administered once daily for 12 weeks to six children with PMS using an open-label design. IGF-1 levels, safety, and efficacy assessments were measured every 4 weeks throughout the study. Results rhGH administration increased levels of IGF-1 by at least 2 standard deviations and was well tolerated without serious adverse events. rhGH treatment was also associated with clinical improvement in social withdrawal, hyperactivity, and sensory symptoms. Limitations Results should be interpreted with caution given the small sample size and lack of a placebo control. Conclusions Overall, findings are promising and indicate the need for larger studies with rhGH in PMS. Trial registration NCT04003207. Registered July 1, 2019, https://clinicaltrials.gov/ct2/show/NCT04003207.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.