Inborn errors of metabolism (IEMs) are rare genetic or inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or impaired organelle function presenting as complicated medical conditions involving several human organ systems. They involve great complexity of the underlying pathophysiology, biochemical workup, and molecular analysis, and have complicated therapeutic options for management. Age of presentation can vary from infancy to adolescence with the more severe forms appearing in early childhood accompanied by significant morbidity and mortality. The understanding of these complex disorders requires special indepth training, American Board of Medical Genetics and Genomics (ABMGG) certification and experience.Most primary care physicians (PCPs) are reluctant to deal with IEM due to unfamiliarity and rarity of such conditions compounded by prompt progression to crisis situations along with paucity of time involved in dealing with such complex disorders. While there are biochemical geneticists aka metabolic specialists' expertise available, mostly in larger academic medical centers, with expertise to deal with these rare complex issues, their initial clinical presentation in most newborns, children, adolescents or adults including asymptomatic positive newborn screen (NBS), occur in the out-patient PCP settings. Therefore, it is important that PCPs' comfort to recognize early signs and symptoms is important to initiate appropriate diagnostic and therapeutic interventions, and be able to make appropriate referrals. The following article reviews common IEM clinical presentations for a robust diagnostic differential and discuss evaluation and management approaches of patients with known or suspected IEM.
Background: Neonatal abstinence syndrome (NAS) is characterized by significant physiological and behavioral signs involving multiple-organ systems in neonates following a prenatal exposure to opioids and other nonopioid drugs. Neonatal abstinence syndrome can result in serious morbidity, and even death, if unrecognized and untreated. The purpose of this study was to develop a simulation model of a standard video training of the Finnegan Neonatal Abstinence Scoring System (FNAS) and investigate the perceptions of comfort and competency of pediatric residents undergoing video or simulation training. Methods: Thirty-one pediatric and medicine-pediatric residents participated in this single-blinded randomized intervention study. The experimental group completed demonstrated simulation while the control group received the traditional video instruction. Both groups completed FNAS scoring on a case of a neonate with NAS. The FNAS scores of residents were compared with the scores of 2 expert raters. Pre- and posttraining and preference surveys were obtained from all participants. Results: Both experimental and control groups scored the FNAS scenario similarly and were also similar to the expert raters. Both groups also reported comparable levels of comfort and competency after the training, though first-year residents reported greater improvement than upper-level residents. The FNAS scores from expert raters were identical for the simulation and video scenarios. Implications for Practice: Although this study showed that a simulation training module can be used as a standardized teaching method to administer the FNAS, it can be cost-prohibitive and daunting to produce. Nursing professionals need to be aware of medical education training around FNAS due to the interdisciplinary nature of care for neonates with NAS. Institutions should consider implementing a diversity of practices and models with an interdisciplinary approach to training assessment of the neonate with NAS. Implications for Research: A more hands-on, less cost-prohibitive simulation training needs to be developed to teach FNAS administration with a broader range of professionals including interdisciplinary teams of nursing and medical professionals.
CASE: Christa is a 15-year-old male-to-female (MTF) transgender patient who comes to your Developmental-Behavioral Pediatrics office for consultation on attention deficit/hyperactivity disorder (ADHD) management and concerns about worsening anxiety. Review of medical history included mild persistent asthma managed with steroid inhaler and leukotriene antagonist. She was diagnosed with ADHD at 12 years and has been placed on methylphenidate and clonidine over the years with little improvement. She struggles in school, with barely passing grades, and feels that she cannot focus on her assignments. She was diagnosed with MTF transition gender dysphoria, social anxiety disorder, and depressive disorder at 13 years by a psychiatrist and was treated with sertraline with some mood improvement. More recently, she reports having thoughts of wanting to hurt people and “wanting to watch them wither away.” She expressed being terrified by these thoughts, which lasted for a couple of days but have since resolved. She denied any suicidal thoughts recently and gives credit to her “best girlfriend” for her overall improved mood, improved sleep pattern, and increased energy level. She expressed having deepening feelings for this girlfriend but admitted to not having acted on these feelings as she is afraid of the consequences. She currently uses the pronouns she/her/hers. Family history is pertinent for paternal bipolar disorder. There is considerable psychosocial stress as Christa is estranged from her father, who is not supportive of her transition, although mother is. Unfortunately, she is dependent on her father for medical insurance coverage, and he is refusing to give authorization to proceed with the evaluations and diagnostic workup for the transformation. Christa has been repeatedly encouraged to seek counseling but has declined because of previous poor experiences with counselors. Her primary care clinician in Family Medicine has been administering hormonal replacement therapy because she cannot access the regional center of excellence because of above-mentioned insurance issues. She presents to you now with her mother for management suggestions and diagnostic clarification. What is your next step?
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