Life course health and healthcare utilization among adults with spina bifida.

AIM: To evaluate the prevalence of organ system disorders and describe healthcare utilization among adults with spina bifida at a regional clinic. METHOD: This study was a structured chart review using the Rochester Health Status Survey-IV. 65 males, 57 females aged 16 to 59 years were seen at the Spina Bifida Center of Central New York between January 2007 and December 2008 (annual hospitalization rate was 15 out of 100). RESULTS: Hospitalizations and acute outpatient visits were associated with having shunted hydrocephalus, whereas visits to the emergency department were associated with having a decubitus ulcer. Logistic regression models revealed that older adults made proportionately fewer visits to primary care providers than younger adults (odds ratio 0.919; p=0.02). Yet for every 1-year increase in age, the odds of being hospitalized increased by 5% (odds ratio 1.051; p=0.03). INTERPRETATION: Adults with spina bifida have multiple organ-system disorders. They have greater difficulty accessing services, and utilize emergency and inpatient healthcare at higher rates than the general population. In the future, adults with spina bifida will require access to more medical care and preventive services if they are to have optimal health, well-being, and functioning.

Characterization of the genomic architecture and mutational spectrum of a small cell prostate carcinoma.

We present the use of a series of laboratory, analytical and interpretation methods to investigate personalized cancer care for a case of small cell prostate carcinoma (SCPC), a rare and aggressive tumor with poor prognosis, for which the underlying genomic architecture and mutational spectrum has not been well characterized. We performed both SNP genotyping and exome sequencing of a Virchow node metastasis from a patient with SCPC. A variety of methods were used to analyze and interpret the tumor genome for copy number variation, loss of heterozygosity (LOH), somatic mosaicism and mutations in genes from known cancer pathways. The combination of genotyping and exome sequencing approaches provided more information than either technique alone. The results showed widespread evidence of copy number changes involving most chromosomes including the possible loss of both alleles of CDKN1B (p27/Kip1). LOH was observed for the regions encompassing the tumor suppressors TP53, RB1, and CHD1. Predicted damaging somatic mutations were observed in the retained TP53 and RB1 alleles. Mutations in other genes that may be functionally relevant were noted, especially the recently reported high confidence cancer drivers FOXA1 and CCAR1. The disruption of multiple cancer drivers underscores why SCPC may be such a difficult cancer to manage.

Effect of health information technology interventions on lipid management in clinical practice: a systematic review of randomized controlled trials.

BACKGROUND: Large gaps in lipid treatment and medication adherence persist in high-risk outpatients in the United States. Health information technology (HIT) is being applied to close quality gaps in chronic illness care, but its utility for lipid management has not been widely studied. OBJECTIVE: To perform a qualitative review of the impact of HIT interventions on lipid management processes of care (screening or testing; drug initiation, titration or adherence; or referrals) or clinical outcomes (percent at low density lipoprotein cholesterol goal; absolute lipid levels; absolute risk scores; or cardiac hospitalizations) in outpatients with coronary heart disease or at increased risk. METHODS: PubMed and Google Scholar databases were searched using Medical Subject Headings related to clinical informatics and cholesterol or lipid management. English language articles that described a randomized controlled design, tested at least one HIT tool in high risk outpatients, and reported at least 1 lipid management process measure or clinical outcome, were included. RESULTS: Thirty-four studies that enrolled 87,874 persons were identified. Study ratings, outcomes, and magnitude of effects varied widely. Twenty-three trials reported a significant positive effect from a HIT tool on lipid management, but only 14 showed evidence that HIT interventions improve clinical outcomes. There was mixed evidence that provider-level computerized decision support improves outcomes. There was more evidence in support of patient-level tools that provide connectivity to the healthcare system, as well as system-level interventions that involve database monitoring and outreach by centralized care teams. CONCLUSION: Randomized controlled trials show wide variability in the effects of HIT on lipid management outcomes. Evidence suggests that multilevel HIT approaches that target not only providers but include patients and systems approaches will be needed to improve lipid treatment, adherence and quality.

Spina bifida grown up.

The majority of people with spina bifida in the United States are now older than 18 years of age. Health care delivery for adults with this condition should include routine surveillance for common conditions such as hypertension, hyperlipidemia and cancer. It should also address spina bifida-related complications such as pressure sores, lymphedema, sexual dysfunction and infertility, and hydrocephalus, as well as chiari-related symptoms such as sleep apnea and urologic and renal functioning. Almost all adults with spina bifida benefit from regular followup with specialists in urology, neurosurgery and physiatry. Health care providers for adults with spina bifida should recognize the impact of executive dysfunction and nonverbal learning disability on self management, independent living, and employment in adults with spina bifida.

Providing a primary care medical home for children and youth with cerebral palsy.

All primary care providers will care for children with cerebral palsy in their practice. In addition to well-child and acute illness care, the role of the medical home in the management of these children includes diagnosis, planning for interventions, authorizing treatments, and follow-up. Optimizing health and well-being for children with cerebral palsy and their families entails family-centered care provided in the medical home; comanagement is the most common model. This report reviews the aspects of care specific to cerebral palsy that a medical home should provide beyond the routine health care needed by all children.

Providing a primary care medical home for children and youth with spina bifida.

The pediatric primary care provider in the medical home has a central and unique role in the care of children with spina bifida. The primary care provider addresses not only the typical issues of preventive and acute health care but also the needs specific to these children. Optimal care requires communication and comanagement with pediatric medical and developmental subspecialists, surgical specialists, therapists, and community providers. The medical home provider is essential in supporting the family and advocating for the child from the time of entry into the practice through adolescence, which includes transition and transfer to adult health care. This report reviews aspects of care specific to the infant with spina bifida (particularly myelomeningocele) that will facilitate optimal medical, functional, and developmental outcomes.

Social participation in a nationally representative sample of older youth and young adults with autism.

OBJECTIVE: To describe social participation and identify factors that affect it in a nationally representative sample of adolescents and young adults with autism. METHODS: Longitudinal cohort study using data from the National Longitudinal Transition Study-2. The World Health Organization International Classification of Functioning, Disability, and Health model was used with participation as the dependent category. RESULTS: A nationally representative sample of 725 youth with autism representing a weighted sample of 21,010 individuals was followed up for 4 years. The mean age at first interview was 15.4 years and 19.2 years at follow-up. More than half the youth at follow-up had not gotten together with friends in the previous year and 64% had not talked on the phone with a friend. Being employed or in secondary education was associated with the following factors (odds ratios): problems conversing (0.67), being teased (0.17), mental retardation (0.06), being above the poverty level (4.17), not using prescription medicine (4.11), general health status (2.30), and parental involvement with school (1.69) (all p < .001). CONCLUSIONS: Many adolescents and young adults with autism become increasingly isolated. Although each aspect of social participation had its own distinct pattern of factors related to it, the ability to communicate effectively, less severe autism, coming from an environment that was not impoverished and having parents who advocated were associated with more positive outcomes. These data provide insights into the factors that affect the participation of youth with autism during their transition years and should ultimately lead to interventions that could improve those transitions.

Youth with spina bifida and transitions: health and social participation in a nationally represented sample.

OBJECTIVE: To describe outcomes and identify factors that affect social participation in youth and young adults with spina bifida. STUDY DESIGN: Prospective data from a nationally representative survey of youth and young adults with disabilities were analyzed. The WHO ICF framework was used with participation as the dependent category and (a) body function/structure; (b) activities; (c) personal factors; and (d) environment as independent categories. RESULTS: A nationally representative sample of 130 youth with spina bifida (mean age 15 years) representing 5171 individuals with spina bifida was followed up for 4 years. The general health of the sample declined over the 4-year study period. Although each outcome using the WHO ICF model had its own pattern of factors that related to it, being Latino or not speaking English at home was negatively associated with each of the outcomes. CONCLUSION: The general health of individuals with spina bifida declines during adolescence and early adulthood. Social participation is affected by many factors, and each outcome appears to have its own set of factors that affect it. Future interventions to improve health, well-being, and social participation in adults with spina bifida will need to address factors in all domains.

Optimizing health care for children with spina bifida.

The health care needs of children with spina bifida are complex. They need specialists, generalists, and an integrated system to deliver this complex care and to align and inform all the providers. Most research in spina bifida has been focused on narrow medical outcomes; it has been noncollaborative, based on small samples of convenience, with no comparison groups, and without consistent standards of measurement. Models of health, like the World Health Organization International Classification of Functioning, Disability, and Health Model can help to broaden the scope of future research. Using methods from other pediatric conditions like the patient registry (cystic fibrosis), gene bank (autism), and collaborative research (leukemia), researchers can improve the quality of future studies. Research questions related to the process of care and to specific nonsurgical conditions associated with spina bifida are reviewed in this article.

The power and promise of identifying autism early: insights from the search for clinical and biological markers.

BACKGROUND: The biological changes that lead to autism likely occur during prenatal life. Although earlier identification of the disorder has occurred within the past decade, the mean age of diagnosis is still not made before a mean age of 3 years. This is because autism remains a behaviorally defined disorder, placing limits on the age at which a confident diagnosis can be made. The study of the biological basis of autism prior to age 3 is essential and can most directly be achieved with prospective research designs. METHODS: The literature on the early identification of autism is discussed, including the timescale for the onset of social symptoms. Also discussed is a new method for the prospective study of autism called the "1-Year Well-Baby Check-Up Approach," which allows for the prospective study of the disorder in simplex families with infants as young as 12 months of age. RESULTS: Although likely present at subtle, subclinical levels, early social abnormalities are not clearly detectable prior to 12 months in age in infants later diagnosed as having autism spectrum disorder. CONCLUSIONS: Using the 1-Year Well-Baby Check-Up Approach or other prospective design, examining early biomarkers related to early brain overgrowth, cerebellar development, gene expression patterns and immune system function may be key to early diagnosis efforts under 3 years. We also note the importance of comparing and contrasting the early "signature" of autism in children from singleton versus multiplex families, which may be etiologically distinct.

Obesity across the lifespan among persons with spina bifida.

PURPOSE: Identify risk factors for obesity across the lifespan for individuals with spina bifida. METHODS: Cross sectional chart review study of 203 patients aged 6-58 years. Obesity was based on body mass index. Rates were calculated for children aged 6-11 years; adolescents aged 12-19 years and adults aged > 20 years. Chi-square analyses were used to determine differences in obesity rates among subgroups. An ordered logistic regression model was developed for the three age groups to estimate the probability of a change in BMI classification from normal weight to overweight or overweight to obese, controlling for sex, functional motor level, shunt status and insurance status. RESULTS: Obesity rates for children, adolescents and adults were 18, 8 and 37%, respectively. Obesity rates were higher among adults (chi2 = 27, p < 0.01) and for individuals who were publicly insured (chi2 = 7.2, p < 0.03). The ordered regression model for children demonstrated no independent association between sex, shunt status, functional motor level or insurance status and change in BMI category. For adolescents, lower functional motor level (i.e. sacral) increased the risk of becoming obese (Odds Ratio: 2.13; 95% CI: 1.12-4.06; p < 0.02). Among adults, female sex increased risk (OR = 2.28; 95% CI: 1.03-5.04; p < 0.04). CONCLUSIONS: Obesity rates for children and adolescents with spina bifida are similar to the general population; however, obesity rates are higher among adults, particularly women. Risk factors are similar to those observed in the general population.

Health and well being of adults with cerebral palsy.

PURPOSE OF REVIEW: This article reviews what is known about the health and well being of adults with cerebral palsy. It also addresses the factors known to affect the areas identified in the World Health Organization International Classification of Functioning model as being critical for optimal health and well being. RECENT FINDINGS: As adolescents with cerebral palsy progress to adulthood, they decrease their utilization of health and related services, in part because the transition to adult services is less than optimal. Adults with cerebral palsy have a high prevalence of comorbid and secondary conditions like pain. They have been shown to have regression in several areas of functioning including mobility. Adults with cerebral palsy also have less participation in areas such as social interactions, employment, marriage, and independent living than adults without cerebral palsy. Factors such as cognitive abilities, the severity of the cerebral palsy and age all affect participation. Very few studies have been done in adults to identify interventions that will help them achieve better health and well being. SUMMARY: The International Classification of Functioning can help identify areas in which research is needed to develop interventions that will optimize the health and well being of adults who have cerebral palsy.

Disparities in diagnosis and access to health services for children with autism: data from the National Survey of Children's Health.

OBJECTIVE: Earlier assessment of autism improves outcomes. In addition, children with autism have significant need for medical care. Therefore, identification of factors associated with delays in the early diagnosis of autism and with decreased access to care has the potential to lead to interventions that will improve health and well-being. The aim of this study was to determine whether differences occur in the age-specific prevalence of autism or in access to health care in children of traditionally underserved populations. METHOD: Data from the National Survey of Children's Health of 2003/2004 were used. Diagnosis of autism and its severity were based on parental report. RESULTS: The prevalence of autism was lower for Latinos (26/10,000) than for non-Latinos (51/10,000). Whites and blacks had comparable rates. The lowest preschool rate of autism (16/10,000) occurred in poor children. Latinos and poor families rated their children's autism as more severe. Being black, Latino, or poor was associated with decreased access to services, while having Medicaid or State Children's Health Insurance Program was linked with better access to some services. CONCLUSIONS: Disparities in the prevalence and parent-reported severity of autism and in access to health care were found for children with autism. Programs for children in general (e.g., universal screening for autism) and programs that target traditionally underserved groups of children, their families, and their health care providers should be tested and implemented to optimize case finding of children with autism and to eliminate disparities in access to care and to early intervention.

Incidence, prevalence, and characteristics of fractures in children, adolescents, and adults with spina bifida.

OBJECTIVE: To determine the age-specific incidence, prevalence, and characteristics of fractures in persons with spina bifida. DESIGN: Year-long historical cross-sectional study. SUBJECTS: Two hundred twenty-one consecutive patients aged 2-58 years evaluated in 2003 at a regional referral center. Twenty percent (n=44) were children age 2-10 years; 30% (n=68) were adolescents age 11-18 years; and 50% (n=109) were adults age 19-58 years. Fifty-five percent (n=121) were female; 64% (n=141) had shunted hydrocephalus. Fifty-eight percent (n=129) were community ambulators. Defect levels included 14% (n=31) thoracic; 37% (n=81) mid-lumbar; 35% (n=79) low-lumbar; and 14% (n = 30) sacral. METHODS: Chart review of 221 consecutive children, adolescents, and adults enrolled in a spina bifida program in Syracuse, New York, was used to determine incidence and prevalence rates. Chi-square was used for subgroup analyses, and linear regression was used to examine independent association of motor level, functional independence (Functional Independence Measures score), body mass index (BMI), shunted hydrocephalus, epilepsy, and/or other congenital anomalies with fractures, controlling for insurance status, race/ethnicity, age, and sex. RESULTS: Annual incidence of fractures among children, adolescents, and adults was 23/1000; 29/1000; and 18/1000, respectively. Overall prevalence was 200/1000. One in 4 patients with fractures reported multiple fractures. Median age at first fracture was 11 years. Most fractures involved the femur or tibia. Comparisons between adult- and childhood-onset fractures were not significant for difference in sex, BMI, defect level, functional independence, shunted hydrocephalus, epilepsy, or other congenital anomalies. In regression models only defect level RR = 1.646 (P = 0.019; 95% CI 1.085-2.498) and age RR = 1.033 (P= 0.036; 95% CI 1.002-1.065) were independently associated with fractures. CONCLUSIONS: Fractures in persons with spina bifida are most common during early adolescence. Environmental modifications may be more effective than pharmacological treatment in reducing the prevalence of fractures in this population.

Short-term persistence of high health care costs in a nationally representative sample of children.

OBJECTIVES: Little is known about the persistence of health care costs in children. Determining whether children with high health expenses continue to have high expenses over time can help in the development of targeted programs and policies to decrease costs, plan equitable health insurance strategies, and provide insights into the effects of costly conditions on families. The objectives of this study were to (1) identify the characteristics of children who are in the top 10th percentile for health costs, (2) investigate whether those in the top percentiles for costs in 1 year continue in the same percentiles the next year, and (3) identify factors that predict whether a child stays in the top percentiles. METHODS: Data from 2 consecutive years (2000-2001) of the Medical Expenditure Panel Survey were analyzed. Changes in a child's position in the expenditure distribution were examined. An estimated multivariate model conditional on insurance was developed to predict the true resource costs of providing services. Statistical analyses, including logistic-regression and multivariate linear-regression modeling, were done to account for the weighted sampling used in Medical Expenditure Panel Survey. RESULTS: A total of 2938 children were included in the survey for both years. In 2000, the top 10% of the children accounted for 54% of all costs. They had a mean total expenditure of 6422 dollars with out-of-pocket expenditures of 1236 dollars; 49% of the children in the top decile in 2000 persisted in the top decile in 2001, whereas 12% dropped into the bottom half. Children who had been in the top 10% in 2000 were 10 times more likely than other children to be in the top 10% for 2001. Other characteristics in 2000 that predicted membership in the top decile for 2001 included age (11-15 and 16-17 years), having any insurance (public and private), being positive on the standardized Children With Special Health care Need screener, and having a functional limitation. CONCLUSIONS: Almost half of the children in the top 10% for costs in 2000 persisted in the top 10% in 2001. Older children, children with special health care needs, and children with functional limitations were more likely to be in the top decile. These findings do not support the belief that black and Latino children who are on Medicaid account for a disproportionate share of costs or expenditures. Because the children who were among the top 10% used health care services in a variety of inpatient, emergency department, outpatient, and ancillary venues, providing care coordination throughout the entire health care system is important to address both the cost and the quality aspects of health care for the most costly children. Targeted programs to decrease expenditures for those with the greatest costs have the potential to save future health care dollars. Assessment of the factors that predict persistence of high expenditures can be used to help in the planning of equitable health insurance strategies such as catastrophic care, carve-outs, reinsurance, and risk adjustment. Clinicians should review regularly the extent of care coordination that they are providing for their high-need and high-cost patients, especially preteens and adolescents. Studies that examine the persistence of expenditures over longer periods and include assessment of quality of care are needed.

Health care utilization and expenditures for children with autism: data from U.S. national samples.

Little is known about the use of medical services by children who have autism (ASD). Provide nationally representative data for health service utilization and expenditures of children with ASD. Cross-sectional survey using the Medical Expenditure Panel (MEPS), and National (Hospital) Ambulatory Medical Care Surveys (N(H)AMCS). A total of 80 children with ASD were identified from N(H)AMCS (weighted sample size (wss) 186,281), and 31 (wss 340,158) from MEPS. They had more outpatient visits, physician visits, and medications prescribed than children in general. They spent more time during physician visits than other children. Annual expenses for children with autism spectrum disorder (6,132 dollars) were more than for other children (860 dollars). Children with ASD have a substantial burden of medical illness.

Satisfaction with primary health care received by families of children with developmental disabilities.

OBJECTIVE: To evaluate the perceptions of families of children with developmental disabilities regarding their primary care physicians and to determine if differences exist for different conditions. METHODS: Mailed survey to families of children who had autism, physical disabilities (cerebral palsy or spina bifida) and mental retardation that included the Multidimensional Assessment of Parental Satisfaction for Children with Special Needs. RESULTS: One hundred twenty-one families responded. Families rated physicians highest on their ability to keep up with new aspects of care and on their sensitivity to the needs of children. Parents had the lowest ratings for the primary care physicians' ability to put them in touch with other parents, understanding of the impact of the child's condition on the family, ability to answer questions about the child's condition, and information and guidance for prevention. Physicians' knowledge about complementary and alternative medicine and their qualifications to manage developmental disabilities ranked worse than neutral. Families with a child with autism had more spontaneous negative comments and rated their primary care physicians lower on several aspects of care. They requested more information on complementary and alternative medicine and more support in the community. DISCUSSION: Families of children with developmental disabilities demonstrate dissatisfaction with several aspects of health care that can serve as areas for intervention by their health care providers. Families of children with autism in particular articulate dissatisfaction and voice unmet needs.

Do grip and pinch strength predict neurologic complications in children with spina bifida and hydrocephalus?

BACKGROUND: Neurological complications occur commonly in children with meningomyelocele and can cause significant morbidity and mortality. An earlier study suggested that acute changes in grip and pinch strength could be used to identify individuals at increased risk for developing a neurological complication. OBJECTIVE: To evaluate the use of grip and pinch measurements to screen for neurological problems in children with spina bifida and hydrocephalus. DESIGN: A prospective evaluation of screening tests. PATIENTS: 92 children, born since 1976, who had meningomyelocele and hydrocephalus and were treated at the University of Rochester Medical Center. METHODS: Grip and pinch strength were measured between July, 1991, and June, 2003. RESULTS: Mean grip and pinch strengths were similar to those found in previous studies of children with meningomyelocele; 58 neurological events occurred in 39 (40%) individuals. These included 31 episodes of ventricular shunt failure and 22 symptomatic tethered cord occurrences. Specificity, sensitivity and likelihood ratios were calculated in multiple ways using different criteria for loss of grip or pinch strength and for interval to neurological event. Sensitivities were low (<0.35) and the highest positive likelihood ratio found, using fall in either lateral pinch with 6 months to neurological event, was 2.3. CONCLUSIONS: Despite previous recommendations, grip and pinch measurements were not helpful when used as a routine screening test for neurological dysfunction for children with meningomyelocele and hydrocephalus.