Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation

Advances in medical treatment have prolonged the lives of children with Hurler syndrome or mucopolysaccharidosis I requiring increased attention to the assessment of their long-term outcomes and functional abilities. Adaptive functions are critical for understanding functional outcomes after treatment and developing focused interventions. We investigated the development of various adaptive functions in children who have had hematopoietic stem cell transplant (HSCT) for Hurler syndrome and risk factors that are associated with the development of these functions. We examined the development of 41 children who had 3 or more Vineland Adaptive Behavior Scales records assessed before and after transplant. Communication, daily living skills, socialization, and motor functions were measured. While standard scores decline over time, development of skills continue with a slower than average rate compared with peers. A cross-sectional nontransplanted comparison group showed more deficits after age 2 years than the transplanted group. In contrast to cognitive ability, age at transplant was not significantly associated with ultimate adaptive level. Baseline cognitive level before HSCT and growth of cognition after HSCT were associated with adaptive functions especially for communication and daily living skills. Socialization was predicted by cumulative medical risk factors, likely due to restricted social exposure in children with complicated transplant courses. Overall, measurement of adaptive behaviors demonstrated that HSCT allows long-term slow improvement of functional outcomes for children with Hurler syndrome. Children with Hurler syndrome with good cognitive levels before HSCT and continued growth of cognition after HSCT show good adaptive functions. Although cognitive and orthopedic problems as well as medical complications limit adaptive ability, identifying these problems early allow beneficial targeted interventions.     

Physical activity augments bone mineral accrual in young children: The Iowa Bone Development study

OBJECTIVES: This 3-year follow-up study examined associations between physical activity and bone mineral content (BMC) and whether physical activity augments BMC accrual. STUDY DESIGN: Participants were 370 children (mean age baseline 5.3 years, follow-up 8.6 years). Physical activity was measured using 4-day accelerometry. BMC was measured using dual energy x-ray absorptiometry. RESULTS: After adjustment for baseline BMC, age, and body size, mean physical activity predicted follow-up BMC at the hip, trochanter, spine, and whole body in boys and at the trochanter and whole body in girls. The variability in BMC explained by physical activity was modest (1% to 2%). However, based on a general linear model with adjustment for baseline BMC and body size, children who maintained high levels of physical activity accrued, on average, 14% more trochanteric BMC and 5% more whole-body BMC relative to peers maintaining low levels of physical activity. CONCLUSIONS: This study suggests that maintaining high levels of everyday physical activity contributes to increases in BMC in young children, particularly at the trochanter.     

Patient- and family-centered care and the role of the emergency physician providing care to a child in the emergency department

Patient- and family-centered care is an approach to health care that recognizes the role of the family in providing medical care; encourages collaboration between the patient, family, and health care professionals; and honors individual and family strengths, cultures, traditions, and expertise. Although there are many opportunities for providing patient- and family-centered care in the emergency department, there are also challenges to doing so. The American Academy of Pediatrics and the American College of Emergency Physicians support promoting patient dignity, comfort, and autonomy; recognizing the patient and family as key decision-makers in the patient's medical care; recognizing the patient's experience and perspective in a culturally sensitive manner; acknowledging the interdependence of child and parent as well as the pediatric patient's evolving independence; encouraging family-member presence; providing information to the family during interventions; encouraging collaboration with other health care professionals; acknowledging the importance of the patient's medical home; and encouraging institutional policies for patient- and family-centered care.     

Safety, efficacy and pharmacokinetics of peginterferon alpha2a (40 kd) in children with chronic hepatitis C

Chronic hepatitis C virus (HCV) infection in children is a problem affecting thousands of children worldwide. Although standard interferon (INF) has better efficacy in pediatric patients than in adults, results in children with genotype 1 are poor; response rates to combination treatment with standard INF and ribavirin are better but the treatment requires thrice-weekly injections. The improved antiviral efficacy of weekly pegylated interferons relative to standard interferons in adults with chronic HCV infection suggests that pegylated interferons may also improve antiviral efficacy in children. We therefore investigated the pharmacokinetics, efficacy and safety of peginterferon alpha2a (pegINF-alpha2a) (40 kd) in 14 children ages 2 to 8 years with chronic hepatitis C (13 genotype 1, 1 non-1 genotype). Drug dose was calculated from each patient's body surface area (BSA) according to the formula BSA (m2)/(1.73 m2) x 180 microg, and patients were administered once-weekly subcutaneous injections for 48 weeks. Viral load and pharmacokinetic parameters were determined from blood drawn throughout the study and during follow-up. At week 24, the mean trough concentration was about 20% below values obtained from adults treated with pegINF-alpha2a, and the area under the curve from 0 to 168 hours was about 20% above adult values, suggesting that drug doses calculated from BSA achieved therapeutically adequate concentrations. Six of 14 patients (43%), all infected with genotype 1, achieved a sustained virological response. Adverse events were those commonly associated with INF-based treatment, and none was deemed serious. In conclusion, our findings provide a basis for larger studies evaluating the efficacy and safety of pegINF-alpha2a as monotherapy as well as in combination with ribavirin in pediatric patients with chronic hepatitis C.     

Improved preventive care for asthma: a randomized trial of clinician prompting in pediatric offices

OBJECTIVE: To determine whether clinician prompting regarding a child's symptom severity and guideline recommendations at the time of an office visit improves the delivery of preventive asthma care. DESIGN: Randomized controlled trial. SETTING: Two inner-city pediatric practices in Rochester, NY. PARTICIPANTS: Two hundred twenty-six children with persistent asthma (aged 2-12 years) presenting to the clinics for well-child care, asthma care, or non-asthma-related illness care.Intervention We assigned children randomly to a clinician-prompting group (single-page prompt including the child's symptoms and guideline recommendations given to the clinician at the time of the visit) or a standard-care group (no prompt given). Interviewers called parents after the visit to inquire about preventive measures taken, and medical charts were reviewed. MAIN OUTCOME MEASURES: Any preventive action related to asthma taken at the visit. RESULTS: Children in the clinician-prompting group were more likely to have had any preventive measures taken at the visit compared with children in the standard-care group (87% vs 69%). Specifically, visits for children in the clinician-prompting group were more likely to include delivery of an action plan (50% vs 24%), discussions regarding asthma (87% vs 76%), and recommendations for an asthma follow-up visit (54% vs 37%). In a regression model, children in the clinician-prompting group had 3-fold greater odds of receiving any preventive action compared with the standard-care group. CONCLUSION: Clinician prompting regarding asthma severity and care guidelines at the time of an office visit significantly improved the delivery of preventive asthma care.