Pediatrics CME

Activity Description / Statement of Need:

In this online, self-learning activity:

Pompe disease (PD) is a progressive, often fatal, autosomal recessive, neuromuscular disorder caused by mutations of the α-glucosidase gene on chromosome 17. PD is characterized by glycogen accumulation in skeletal, cardiac and smooth muscles due to a deficiency in α-glucosidase (GAA), an important lysosomal enzyme responsible for glycogen catabolism. PD is categorized into three groups based on symptoms and age of onset. The classic infantile form presents in the first year of life, usually in the first two months, with hypertrophic cardiomyopathy. The non-classic infantile form presents later in the first year of life, without or with less severe cardiomyopathy. The late onset form of PD presents any time after one year of life, usually without cardiac complications.

PD is rare, with one study estimating the incidence in the U.S. to be 1 in 22,000 births. The biggest risk factor for the disease is genetics; at conception, each sibling of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being not a carrier. Nonspecific diagnostic findings for PD may include abnormal EMG, elevated serum creatine kinase, elevated transaminases and elevated lactate dehydrogenase. A definitive diagnosis for PD involves a dried blood spot test to determine GAA enzyme activity level; reduced GAA activity (less than 40% of normal) is indicative of a positive diagnosis. A gene mutation analysis, or another GAA enzyme test using a different area of tissue, is recommended to confirm the diagnosis. The disease is not uncommonly undiagnosed or is misdiagnosed, representing one practice gap that continued HCP education may address, particularly given that earlier treatment may minimize rapid and irreversible disease progression.

Target Audience:

The following HCPs: Neurologists, pediatricians, and primary care physicians; physician assistants and nurse practitioners in those areas of specialty; pharmacists who practice in specialty pharmacies that treat patients with rare diseases; and any other HCPs with an interest in or who may clinically encounter patients with PD.

Activity Description / Statement of Need:

In this online, self-learning activity:

Mucopolysaccharidoses (MPS) are a group of genetic diseases characterized by a deficiency of lysosomal enzymes responsible for the hydrolysis of glycosaminoglycans (GAGs), resulting in a variety of clinical manifestations in patients presenting with MPS. MPS has several subcategories, and MPS type I (MPS I) arises from the inheritance of an alteration in the IDUA gene, which encodes for alpha-L-iduronidase. Affecting an estimated one in 100,000 live births, MPS I is categorized as either attenuated MPS I (also known as Scheie or Hurler-Scheie syndromes) or severe MPS I with cognitive impairment (also known as Hurler syndrome).

Progressive in nature, MPS I is associated with multi-organ complications and sequelae. Patients exhibit a spectrum of clinical presentations, including facial deformities, organomegaly, cognitive impairments, upper airway obstructions, skeletal deformities, and cardiomyopathy. The burden of MPS I is considerable, with reports of caregivers contributing 51 hours per week on average to help patients perform daily activities of living. Quality of life for patients and their caregivers is significantly reduced with MPS I, affecting the social, emotional, and financial well-being of a family. It is reported that parents fear for their child’s delayed language acquisition, ability to fit in amongst peers and the society, fear of the expense for the necessary care, and fear for the death of a child from obstructive sleep apnea.

This learning activity has been designed to bring HCPs’ knowledge of the strategies for treatment and management of MPS I up to date and to improve their competence and performance in treating it.

Target Audience:

The following HCPs: Pediatricians, neurologists, endocrinologists, genetic disease specialists; physician assistants, nurse practitioners, and pharmacists in the aforementioned areas of specialty; and any other HCPs with an interest in or who may clinically encounter patients with MPS I.

Activity Description / Statement of Need:

In this online, self-learning activity:

Advances in ALL management has led to considerable improvements in outcomes over the past several years, with modern-day treatment leading to remission rates of up to 99% and cure rates of about 90% in children with ALL. However, achieving these high rates of response require multiple phases of treatment, including induction, consolidation, interim maintenance, delayed intensification, and maintenance therapy. 

Chemotherapy was previously the standard of care in this setting but is associated with considerable toxicities. Novel, less toxic options are available or being studied for children who have relapsed after treatment as are new pharmacotherapies specific to patients with Philadelphia chromosome–positive disease and novel formulations of asparaginase. Helping the clinician discern the role of each of the first- and subsequent-line novel therapies based on the most up-to-date research merits continuing education programming in ALL. Indeed, a survey of oncology providers revealed that 86% indicated that added professional guidance would be helpful in incorporating more recent therapies into care.

And despite the inclusion of newer agents in pediatric ALL guidelines, a survey of oncologists and other providers who treat patients with the condition found that 40% of respondents had never prescribed, dispensed, or administered them. Challenges include lack of expertise and management of side effects. Furthermore, recently published guidelines, therefore, also inherently suggest a gap in medical practice and justify the need for educational programming.

Target Audience:

HCPs specializing in: pediatric hematology-oncology, hematology, oncology, pathology, and those who otherwise commonly care for or clinically encounter pediatric patients with ALL.

Activity Description / Statement of Need:

In this online, self-learning activity:

Atopic dermatitis (AD) is a chronic, highly pruritic inflammatory skin disease that is one of the most common skin disorders in children but may develop at any age. It affects 15-30% of children and two to ten percent of adults in developed countries, and between 10-30% of children who have the condition continue to experience it in adulthood. AD is thought to arise from a complicated interplay between multiple genes and environmental triggers, with known risk factors including family history and loss of function mutations in filaggrin. Complications include food allergy, asthma, and allergic rhinitis, and aside from genetics, its pathophysiology involves T-cell mediated inflammation and epidermal dysfunction. The disease is associated with a considerable healthcare burden placed on patients and their families; pruritis aside, patients not uncommonly suffer a loss of sleep and experience secondary infections, anxiety, and depression.

Target Audience:

The following HCPs: Pediatric and adult dermatologists, allergists, and internists; physician assistants, nurse practitioners, and pharmacists who treat patients with dermatologic conditions; and any other HCPs with an interest in or who diagnose, treat, or manage patients with AD.

Acne is one of the most common skin conditions treated by physicians, affecting 40 to 50 million people in the U.S. Although the disease can affect patients at any age, acne occurs most commonly during the adolescent years, with a prevalence as high as 85%. In 20% of cases, the acne is severe, resulting in permanent physical scarring as well as a mental health burden. That burden may include increased prevalence of mood disorders, psychiatric hospitalizations, school absenteeism, unemployment, and suicidality.

Acne is a multifactorial inflammatory disease affecting the hair follicles of the skin. While an understanding of acne pathogenesis is one that is continuously evolving, key pathogenic factors include follicular hyper-keratinization, microbial colonization, sebum production, and complex immune and inflammatory mechanisms. Other research suggests that neuroendocrine regulatory mechanisms, diet, and genetic and factors all may contribute to the multifactorial process of acne pathogenesis. Professional guidelines for the treatment of acne vulgaris in adolescents and adults highlight the roles of topical and systemic pharmacotherapies as well as non-pharmacologic treatment modalities, including lasers and photodynamic therapy. However, in the time since the guidelines were published, newer medications have been approved or entered late stage clinical investigation. Communicating related information to HCPs in a timely manner is a demonstrated need.

Primary immunodeficiency disorders (PIDD) comprise a group of 430 different known inborn errors of immunity. The heterogeneous etiology of PIDD leads to a vast array of clinical presentations, including infection, malignancy, autoimmunity, and inflammation. Once thought to be exceedingly rare, PIDD is increasingly being recognized as an underdiagnosed disease affecting between one in 1,000 to one in 5,000 births.

Because a significant percentage of people with PIDD are undiagnosed, improving the recognition of PIDD signs and symptoms necessarily forms the foundation of PIDD-focused medical education efforts. Early treatment improves outcomes and health-related quality of life in children and adults with PIDD, yet time from symptom onset to diagnosis can exceed 4 years. Diagnostic lag has serious consequences for many patients with PIDD due to recurrent infections, which may take a toll on pulmonary function. In a large-scale analysis of patients with common variable immunodeficiency, a common form of PIDD, risk of death increased by 1.7% each year of diagnostic delay.  The most up-to-date guidance around the classification of PIDD and how to determine related genetic tests has been published relatively recently. Communicating related information to HCPs in a timely manner is a demonstrated need.

Activity Description / Statement of Need:

In this online, self-learning activity:

The term human papillomavirus encompasses a family of DNA viruses that are sexually transmittable and may cause either benign or malignant lesions. They are the leading cause of cervical cancer (CC), with approximately 90% of CC cases attributable to HPV, as well as a major contributor to anogenital and head and neck cancers, although many patients infected with HPV will never develop any related symptoms or disease. The prevalence of HPV in the U.S. is 42.5 million people, and direct medical costs attributed to it are $775 million. HPV 16 accounts for a majority or plurality of HPV-related cancers of both genital tract and head and neck.

The CDC’s Advisory Committee on Immunization Practices (ACIP) recommends HPV vaccination beginning as early as age nine for both sexes, with the schedule and number of doses dependent on age of first dose.

Target Audience:

The following HCPs: Primary care physicians and pediatricians; physician assistants, nurse practitioners, and pharmacists who practice in the aforementioned areas of specialty; and any other HCPs with an interest in or who clinically encounter patients who would benefit from HPV vaccination.

Activity Description / Statement of Need:

In this online, self-learning activity:

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic connective tissue disorder characterized by dysregulated chondrogenesis, with heterotopic ossification (HO) being the most typical feature. The global prevalence of FOP is estimated at 1.43 per million individuals, with a U.S. prevalence of 0.88 per million. FOP develops due to a mutation in the ACVR1 gene encoding the active receptor-like kinase (ALK2), with unique presenting symptoms including great toe malformations and the development of swelling in several areas of the body within the first decade of life.

Target Audience:

HCPs including: pediatricians, pediatric orthopedic surgeons, endocrinologists, and medical geneticists; nurse practitioners, physician assistants, and pharmacists who practice in orthopedics, orthopedic surgery, and rheumatology; and any other healthcare professionals with an interest in or who clinically encounter patients with FOP.