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.

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ABSTRACT:Purposeof Review: Etiological investigations for adults with intellectual disability (ID) pose a special challenge to many adult neurologists. The adaptability of pediatric guidelines for workup of ID to adult populations has not been clearly established. We review the current recommendations on etiological workup of ID in children and adults and provide initial guidance for adult neurologists who care for people with ID of unknown etiology.Recent Findings:Etiological workup, including genetic testing, is recommended in people with ID of unknown origin. Workup should be guided by a thoughtful history and physical exam, which can help identify certain causes of ID.Summary:Specific diagnoses may help guide management and surveillance of comorbid conditions in people with ID. Etiological investigations of adults with ID include genetic and metabolic testing, and brain imaging in the appropriate clinical setting.

Background and ObjectivesIndividuals with intellectual and/or developmental disabilities (IDD) experience worse health outcomes compared with peers without a disability partly due to difficulties accessing age-appropriate health care. Provider discomfort with interacting and caring for individuals with IDD is a primary barrier to accessing care. The objectives of this study were to describe resident physicians' education, experiences, and comfort levels regarding individuals with IDD and to identify predictors of higher comfort levels with this patient population.MethodsIn this cross-sectional study, we surveyed medical trainees in 7 residency programs in Boston, Massachusetts on their education, experiences, and comfort levels regarding individuals with IDD. The comfort level was assessed directly on a 6-point Likert scale. The relationship between comfort regarding people with IDD and several candidate explanatory variables was explored with Spearman and partial Spearman correlations (rs).ResultsThe estimated survey response rate was 49%. Of 423 resident physicians included in the study, 96% reported they had treated a patient with IDD, while only 25% reported having formal education on caring for this population. On a scale of 1–6, with higher numbers corresponding to greater comfort, the mean comfort level treating individuals with IDD was 3.73 (CI 3.61–3.85). In bivariant analyses, the amount of prior experience with people with IDD had a moderate, positive correlation with increased comfort levels treating individuals with IDD (rs= 0.42,p< 0.01). The following characteristics had a weak, positive correlation with increased comfort levels: training in a pediatric-focused residency specialty (rs= 0.18,p< 0.01), number of hours of formal education on caring for people with IDD (rs= 0.15,p< 0.01), and age (rs= 0.12,p= 0.03). Only the amount of prior experience with this patient population remained positively correlated with higher comfort levels when the other variables were controlled for (rs= 0.38,p< 0.01).DiscussionPrior experience with individuals with IDD predicted higher comfort levels with this population. This study supports the need for increased opportunities for medical trainees to engage with people with IDD to improve resident physicians' comfort caring for this patient population.

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