Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria.

BACKGROUND: Phenylalanine hydroxylase (PAH) deficiency, otherwise known as phenylketonuria (PKU), is an inborn error of metabolism that requires treatment to be initiated in the newborn period and continued throughout life. Due to the challenges of treatment adherence and the resulting cumulative effects of high and labile blood phenylalanine, PKU exerts a significant burden of disease. Retrospective studies using large databases allow for unique perspectives on comorbidities associated with rare diseases. An evaluation of comorbidities across various organ systems is warranted to understand the disease burden in adult patients. OBJECTIVES: The aim of this insurance claim-based observational study was to assess the prevalence of comorbid conditions across various organ systems (e.g. dermatological, renal, respiratory, gastrointestinal, hematological, and others) among adult PKU patients compared with matched controls from the general population. METHODS: This retrospective, case-controlled study selected patients from United States insurance claims databases from 1998 to 2014 using International Classification of Diseases, Ninth Revision (ICD-9) codes for diagnosis of PKU. The date of first diagnosis during the study period was index date and this was not necessarily the first time the patient was diagnosed with PKU. Cases were matched with a 1:5 ratio with general population (non-PKU controls) on age, sex, race, geographic location, duration of time in the database and insurance type. Prevalence and prevalence ratio (PR) calculations for comorbidities across various organ systems among adults (≥20 years old) with PKU were compared with the general population (non-PKU controls). The conditions were selected based on complications associated with PKU and feedback from clinicians treating PKU patients. RESULTS: A total of 3691 PKU patients and 18,455 matched, non-PKU controls were selected, with an average age of 35 years. The mean healthcare costs incurred by the PKU patients during baseline, were approximately 4 times that of the controls ($4141 vs $1283; p < .0001). The prevalence rates of comorbidities across various organ systems during the follow-up period were significantly higher for those with PKU than in the control group. After adjusting for baseline characteristics, the adjusted prevalence ratios (PR) of 15 conditions studied (asthma, alopecia, urticaria, gallbladder disease, rhinitis, esophageal disorders, anemia, overweight, GERD, eczema, renal insufficiency, osteoporosis, gastritis/esophagitis and kidney calculus) were all above PR = 1.24 and significantly higher for the PKU cohort (p ≤ .001). The highest adjusted PR were for renal insufficiency with hypertension (PR [95% CI]: 2.20 [1.60-3.00]; p < .0001) and overweight (PR [95%CI]: 2.06 [1.85-2.30]; p < .0001). CONCLUSIONS: The prevalence of selected comorbidities across several organ systems is significantly higher among PKU patients than for general population controls. Regular screening for common co-morbidities may be warranted as part of PKU management.

Creation of a family medicine residency blog.

Objective To describe the process of creating the Family Medicine Vital Signs blog, curated and edited by residents and faculty at the University of Utah Family Medicine Residency Program and to obtain feedback from participants regarding educational impact. Methods Each resident and faculty member contributes at least one blog post per year (with other invited authors), resulting in one post per week on the blog site. An editorial board composed of residents and faculty provides direction and editorial assistance for each post. Residency staff assist in providing authors with reminders and logistical support. A survey was conducted of blog contributors to understand their perceptions of the blog's educational value. Results The Family Medicine Vital Signs blog was started in July 2014, with 40% (n = 68) of the 170 posts provided by residents, 38.2% (n = 65) by faculty, and 21.8% (n = 37) by invited authors through June 2017. It has averaged nearly 100 unique readers per week and has had 15 posts republished in different venues. The participant survey demonstrated scores above the median-possible score, showing positive impact in support of the educational goals. Conclusion A residency blog provides a venue for educational instruction, supporting physician development of communication skills, community engagement, and advocacy.

Improving Immunizations in Children: A Clinical Break-even Analysis.

INTRODUCTION: Immunizing the population is a vital public health priority. This article describes a resident-led continuous quality improvement project to improve the immunization rates of children under 3 years of age at two urban family medicine residency clinics in Salt Lake City, Utah, as well as a break-even cost analysis to the clinics for the intervention. METHODS: Immunization records were distributed to provider-medical assistant teamlets daily for each pediatric patient scheduled in clinic to decrease missed opportunities. An outreach intervention by letter, followed by telephone call reminders, was conducted to reach children under 3 years of age who were behind on recommended immunizations for age (total n=457; those behind on immunizations n=101). Immunization rates were monitored at 3 months following start of intervention. A break-even analysis to the clinics for the outreach intervention was performed. RESULTS: Immunizations were improved from a baseline of 75.1% (n=133) and 79.6% (n=223) at the two clinics to 92.1% (n=163) and 89.6% (n=251), respectively, at 3 months following the start of intervention (P<0.01). The average revenue per immunization given was $81.57. The financial break-even point required 36 immunizations to be administered. CONCLUSION: Significant improvement in the immunization rate of patients under 3 years of age at two family medicine residency training clinics was achieved through decreasing missed opportunities for immunization in clinic, and with outreach through letters and follow-up phone calls. The intervention showed positive revenue to both clinics.

Cost and Utilization with Enrollment in a Medical Home for Individuals with an Autism Spectrum Disorder and/or Intellectual Disability.

Individuals with intellectual and/or developmental disabilities (IDD) tend to incur high health care costs. The Neurobehavior HOME Program (HOME) is an interdisciplinary program that cares for this population. This study will evaluate the health care costs and utilization of individuals during their first year of enrollment in HOME and identify factors associated with higher cost and utilization. Secondary analysis of claims data were used to identify cost and utilization. Generalized linear regression and negative binomial regression were used to calculate utilization and cost. The mean total cost of care during the initial year of enrollment (n=239) per individual was $11,095.87, with $4,640.83 attributed to inpatient care. Those with diabetes (p=0.01), epilepsy (p=0.02), or mood disorders (p=0.03) were more likely to be admitted to the hospital and utilize the emergency department. These findings will enable systems and payers to better construct health care delivery reforms for this high-need population.

Muscle spasms, twitches in arm upon throwing · Dx?

Involuntary upper right arm muscle contractions and spasms, which began intermittently when the patient was a teenager, were now a real problem for him as an adult. The patient was having difficulty rolling a baseball underhand to players as part of infield practice and he was experiencing muscle spasms when lifting his right arm over his head. "Twitches" in the patient's upper arm were making drinking difficult, but he had no problems feeding himself, writing, or performing other basic activities of daily living.

Care of Adults With Intellectual and Developmental Disabilities: Developmental Disabilities.

Approximately 4.8% of individuals in the United States are affected by developmental disabilities (DDs). These individuals have a spectrum of abilities in terms of communication, mobility, and activities of daily living (ADLs). Because there typically is no specific treatment for the underlying disability, the focus of care should be on diagnosing and managing co-occurring medical and mental or behavioral health conditions and improving function and quality of life. Care of patients with DDs is similar to care of patients without DDs, although adjustments may be needed in the physician's interactive approach, engagement of caregivers, and sensitivity to symptoms. Health care can be enhanced by obtaining information about caregivers and guardians, living and work situations, support services received, and functional and instrumental ADL levels. In managing acute conditions, physicians should assess change from baseline and identify and manage maladaptive behaviors that interfere with care. An individualized preventive care plan should be created that may include additional or adapted screening. Needs for consent/medical decision-making support should be identified and addressed, and consent obtained as appropriate. Providing caregiver support and becoming familiar with community resources are other aspects of caring for this population.

Care of Adults With Intellectual and Developmental Disabilities: Down Syndrome.

Down syndrome (DS) is a genetic disorder involving excess genetic material from chromosome 21. The incidence of DS is increasing, and the life expectancy for individuals with DS has increased to a median age of 55 years. Adults with DS are at increased risk of several conditions, including significant neurologic, cardiovascular, pulmonary, gastrointestinal, musculoskeletal, endocrine, psychiatric, hematologic, and social comorbidities, and additional screening or monitoring may be needed. Additional preventive measures for patients with DS include regular screening for thyroid dysfunction, hearing loss, eye disorders, heart disease, osteoporosis, and dementia, and one-time vaccination with the polyvalent pneumococcal polysaccharide vaccine (PPV23). Quality of life should be the main focus of treatment, with patients being involved in medical decisions as much as possible.

Care of Adults With Intellectual and Developmental Disabilities: Traumatic Brain Injury.

Traumatic brain injuries (TBIs) manifest in various forms and severities, and patients with TBIs can have multiple physical and psychological comorbidities. The physician should be prepared to assess effects of the injury and associated comorbidities, and provide needed social support. Common comorbidities include cognitive changes; epilepsy; chronic pain; headache; sleep disorders; neuroendocrine disorders; dizziness and balance issues; substance abuse; depression and anxiety; dementia; and behavioral disturbances, such as aggression. Early severity and cognitive assessment after TBI is key. For patients with mild TBIs, short-term management focuses on cognitive rest, symptom management, and gradual return to regular activities. Short-term management of patients with moderate to severe TBI often requires intensive care unit admission, early psychological consultation, and use of mannitol and probiotics. Long-term care includes monitoring and managing of the physical, behavioral, emotional, and psychological comorbidities that commonly occur in patients with TBIs. Assisting patients in accessing community and government resources can be crucial for improving their independence and quality of life.

Care of Adults With Intellectual and Developmental Disabilities: Cerebral Palsy.

Cerebral palsy (CP) is a group of disorders that primarily affect motor function. This developmental disability is becoming more common in adults as life expectancy increases for individuals with CP. Many physical, medical, mental, and behavioral health conditions are associated with CP, and assistance should be provided to patients with CP to optimize function, when available. These comorbidities include intellectual disabilities, seizures, muscle contractures, abnormal gait, osteoporosis, communication disorders, malnutrition, sleep disorders, and mental health disorders, such as depression and anxiety. The physician should be familiar with screening for and assisting patients with these issues. Optimizing quality of life requires individualized care plans that may include physical therapy, muscle relaxants, surgery, and nutritional support. Other issues to be addressed include methods to facilitate employment; sexual concerns; and support through local and national organizations for patients, families, and caregivers.

Improving pediatric immunization rates: description of a resident-led clinical continuous quality improvement project.

BACKGROUND AND OBJECTIVES: Increased emphasis is being placed on the continuous quality improvement (CQI) education of residents of all specialties. This article describes a resident-led continuous quality improvement (CQI) project, based on a novel curriculum, to improve the immunization rates of children under 2 years old at the Madsen Family Health Center (MHC). METHODS: All third-year residents were trained in the FOCUS-PDSA CQI methodology through concurrent didactic lectures and experience leading the CQI team. The CQI team included clinical staff led by a third-year family medicine resident and mentored by a member of the family medicine faculty. Immunization records were distributed to provider-medical assistant teamlets daily for each pediatric patient scheduled in clinic as the intervention. Compliance with the intervention (process measure), as well as immunization rates at 2 and 5 months post-intervention (outcome measure), were monitored. RESULTS: Immunization records were printed on 84% of clinic days from October 24, 2011 to March 31, 2012. The percentage of patients immunized at baseline was 66%. The percentage immunized as of December 31, 2011 was 96% and was 91% as of March 31, 2012. CONCLUSIONS: An important educational experience was organized for third-year family medicine residents through learning CQI skills, leading a CQI team, and directing a CQI project to completion. Significant improvement in the percentage of patients under 2 years old immunized at the MHC was achieved by presenting provider-medical assistant teamlets with immunization records of all pediatric patients on the daily clinic schedule.