Publications by authors named "Alderman E"

Modern life causes a quarter of adults and half of teenagers to sleep for less than is recommended (Kocevska et al., 2021). Given well-documented benefits of sleep on memory, we must understand the cognitive costs of short sleep.

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Confidentiality is a foundational element of high-quality, accessible, and equitable health care. Despite strong grounding in federal and state laws, professional guidelines, and ethical standards, health care professionals and adolescent patients face a range of complexities and barriers to seeking and providing confidential care to adolescents across different settings and circumstances. The dynamic needs of adolescents, the oftentimes competing interests of key stakeholders, the rapidly evolving technological context of care, and variable health care billing and claims requirements are all important considerations in understanding how to optimize care to focus on and meet the needs of the adolescent patient.

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Confidentiality is an essential component of high-quality health care for adolescents and young adults and can have an impact on the health care experiences and health outcomes of youth. Federal and state laws, professional guidelines, and ethical standards provide a core framework for guidance in the implementation of confidentiality protections in clinical practice. This policy statement provides recommendations for pediatricians and other pediatric health care professionals, clinics, health systems, payers, and electronic health record developers to optimize confidentiality practices and protections for adolescents and young adults across the spectrum of care.

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Several effective contraceptive options are available for use by adolescents, including the long-acting reversible subdermal implant and intrauterine devices, which provide a high level of convenience, privacy, and effectiveness for an adolescent. Knowledge of all the effective birth control methods is essential for the pediatrician to be able to provide effective contraceptive counseling for an adolescent. An approach to counseling using a reproductive justice framework, which allows the provider and adolescent patient to engage in shared decision-making, is described.

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Providing medical care and managing the health care needs of adolescents can be a complex process. Knowing, which adolescents can consent to health care and the scope of services adolescents can consent to, what information can be kept confidential and from whom, under which circumstances information must be disclosed, and how to navigate parental involvement, is vital for the practice of adolescent medicine. This chapter aims to address some of these issues and assist health care providers in gaining knowledge and expertise in the optimal delivery of care for adolescents.

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This clinical report provides pediatricians evidence-based information on the developmentally appropriate, comprehensive clinical care for hospitalized adolescents. Included in this report are opportunities and challenges facing pediatricians when caring for specific hospitalized adolescent populations. The companion policy statement, "The Hospitalized Adolescent," includes detailed descriptions of adolescent hospital admission demographics, personnel recommendations, and hospital setting and design advice, as well as sections on educational services, legal and ethical matters, and transitions to adult facilities.

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Ensuring the confidentiality and protection of health information is the standard of care for adolescents. In 2023 and beyond, the protection of personal health information is more critical than ever. The 21st Century Cures Act Office of the National Coordinator for Health Information Technology Rule, with its requirements for the broad sharing of electronic health information and ban on "information blocking," poses serious concerns for confidentiality in adolescent health care delivery.

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This policy statement is the first published statement in the United States on this topic and the authors aim to provide pediatricians with evidence-based information on the unique aspects required to care for hospitalized adolescents. Included in this policy statement is a description of the possible effects hospitalization may have on the developmental and emotional progress of adolescence, the role of the hospital setting, the importance of confidentiality, and issues related to legal/ethical matters and bias and institutional and systemic racism that may occur during hospitalization.

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Autophagy regulates the degradation of damaged organelles and protein aggregates, and is critical for neuronal development, homeostasis, and maintenance, yet few neurodevelopmental disorders have been associated with pathogenic variants in genes encoding autophagy-related proteins. We report three individuals from two unrelated families with a neurodevelopmental disorder characterized by speech and motor impairment, and similar facial characteristics. Rare, conserved, bi-allelic variants were identified in ATG4D, encoding one of four ATG4 cysteine proteases important for autophagosome biogenesis, a hallmark of autophagy.

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Genomic medicine, an emerging medical discipline, applies the principles of evolution, developmental biology, functional genomics, and structural genomics within clinical care. Enabling widespread adoption and integration of genomic medicine into clinical practice is key to achieving precision medicine. We delineate a biological framework defining diagnostic utility of genomic testing and map the process of genomic medicine to inform integration into clinical practice.

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Alternative use of short distance tandem sites such as NAGN AG are a common mechanism of alternative splicing; however, single nucleotide variants are rarely reported as likely to generate or to disrupt tandem splice sites. We identify a pathogenic intron 5 STK11 variant (NM_000455.4:c.

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Article Synopsis
  • Genome-wide sequencing (GWS) is commonly used for diagnosing genetic disorders, but the success rate in identifying harmful variants can vary widely, from under 30% to over 60%.
  • A study involving 500 families showed that a multidisciplinary team can effectively interpret genetic data, leading to initial diagnoses in 43% of cases, and additional findings in 17.2% through follow-up.
  • Continuous collaboration and reinterpretation of GWS results are crucial for enhancing diagnostic accuracy and clinical value over time.
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Article Synopsis
  • KIAA1109 variants are linked to Alkuraya-Kucinskas syndrome, which causes issues like cerebral underdevelopment, clubfeet, and arthrogryposis, with severity depending on the type of genetic change.
  • Severe cases often stem from biallelic truncating variants leading to miscarriage or early death, while milder forms may result from biallelic missense variants causing developmental delays.
  • A family study revealed a specific splice donor mutation in KIAA1109, resulting in partial mRNA skipping, which may explain the milder phenotypes seen in some patients.
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Heavy menstrual bleeding (HMB) is a common complaint among adolescent girls. It reflects an abnormal volume of blood loss during the menstrual cycle. Abnormal uterine bleeding can manifest as HMB but includes menstrual irregularity.

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Adolescence is the transitional bridge between childhood and adulthood; it encompasses developmental milestones that are unique to this age group. Healthy cognitive, physical, sexual, and psychosocial development is both a right and a responsibility that must be guaranteed for all adolescents to successfully enter adulthood. There is consensus among national and international organizations that the unique needs of adolescents must be addressed and promoted to ensure the health of all adolescents.

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Notch signaling is an established developmental pathway for brain morphogenesis. Given that Delta-like 1 (DLL1) is a ligand for the Notch receptor and that a few individuals with developmental delay, intellectual disability, and brain malformations have microdeletions encompassing DLL1, we hypothesized that insufficiency of DLL1 causes a human neurodevelopmental disorder. We performed exome sequencing in individuals with neurodevelopmental disorders.

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Hospitalizations offer chlamydia and gonorrhea screening opportunities for youth who may not seek preventive care. Tracking of screening test results still pending after hospital discharge is an important component of clinical care. This process can be improved by protocol use and enhanced by effective, automated electronic health record tools.

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For many teenagers, obtaining a driver's license is a rite of passage, conferring the ability to independently travel to school, work, or social events. However, immaturity, inexperience, and risky behavior put newly licensed teen drivers at risk. Motor vehicle crashes are the most common cause of mortality and injury for adolescents and young adults in developed countries.

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Chimeric antigen receptors (CARs) link an antigen recognition domain to intracellular signaling domains to redirect T cell specificity and function. T cells expressing CARs with CD28/CD3ζ or 4-1BB/CD3ζ signaling domains are effective at treating refractory B cell malignancies but exhibit differences in effector function, clinical efficacy, and toxicity that are assumed to result from the activation of divergent signaling cascades. We analyzed stimulation-induced phosphorylation events in primary human CD8 CD28/CD3ζ and 4-1BB/CD3ζ CAR T cells by mass spectrometry and found that both CAR constructs activated similar signaling intermediates.

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