In this article we discuss the steps taken by the United States (US) and the European Union (EU) to meet the health care needs of children with rare diseases and suggest possible directions for future endeavors for further improvement. We reviewed 23 reports and nine legislative documents related to pediatric rare diseases and public policy. We assessed the outcome measures of access and satisfaction with medical services by utilizing the surveys done by the European Organization for Rare Diseases -Eurordis (n = 5,963). Comparable surveys were not available in the US. Our analyses of the existing policies and surveys indicate multiple differences between the US and EU. While the US policies seem to be aimed at disease diagnosis and neonatal screening, EU legislators appear to be focusing on access to existing specialized care. However, both systems have struggled with effectively promoting new treatments. Also, while Eurordis surveys have evaluated areas such as the access to medical services, access to s...

Obesity is especially prevalent among children with special needs. Both lack of physical activity and unhealthful eating are major contributing factors. The objective of our study was to investigate barriers to physical activity among these children. We surveyed parents of the 171 children attending Vista Del Mar School in Los Angeles, a nonprofit school serving a socioeconomically diverse group of children with special needs from kindergarten through 12th grade. Parents were asked about their child's and their own physical activity habits, barriers to their child's exercise, and demographics. The response rate was 67%. Multivariate logistic regression was used to examine predictors of children being physically active at least 3 hours per week. Parents reported that 45% of the children were diagnosed with attention deficit hyperactivity disorder, 38% with autism, and 34% with learning disabilities; 47% of children and 56% of parents were physically active less than 3 hours per week. The top barriers to physical activity were reported as child's lack of interest (43%), lack of developmentally appropriate programs (33%), too many behavioral problems (32%), and parents' lack of time (29%). However, child's lack of interest was the only parent-reported barrier independently associated with children's physical activity. Meanwhile, children whose parents were physically active at least 3 hours per week were 4.2 times as likely to be physically active as children whose parents were less physically active (P = .01). In this group of students with special needs, children's physical activity was strongly associated with parental physical activity; parent-reported barriers may have had less direct effect. Further studies should examine the importance of parental physical activity among children with special needs.

Objective: A longitudinal pediatric palliative care curriculum was introduced into the pediatric residency program at the University of California, Los Angeles. The present study explores the possible effects of this curriculum on the interns' self-assessed comfort levels regarding caring for children with life-threatening conditions.Methods: A newly created assessment tool was administered to interns in order to rate their comfort regarding pediatric palliative care at the beginning and conclusion of their intern year.Results: Twenty-two of the 29 interns completed this survey. Baseline data indicated 55% of the interns had some experience with taking care of a dying pediatric patient during their medical school training, and 79% indicated that they had taken care of a dying adult. Only 7% of the interns felt adequately prepared to deal with death and dying, but all interns indicated interest in further learning about pediatric palliative care. Comparison of the overall comfort levels of the 22 responding residents before and after the first year of training in 20 different related tasks demonstrated a significant self-assessed improvement of comfort in seven areas. There was no increase in self-reported comfort in communication related to palliative care.Significance of results: Residents indicated increased comfort in some areas of pediatric palliative care after the first year of their training. The underlying cause of this increased comfort is unclear at this time. The overall effect of longitudinal palliative care curriculums on residents' level of comfort in caring for this population deserves further assessment.

We report two brothers with severe global cognitive and motor delay, cortical visual impairment and sick sinus syndrome who were born to consanguineous parents. Standard genetic evaluations did not reveal the cause of their mental retardation. As expected, chromosomal microarray (CMA) revealed extensive regions of homozygosity. Exome sequencing revealed that both affected boys were homozygous for a nonsense mutation in the G-protein β5 (GNB5) gene (NM_016194.3:c.1032C > G; Tyr344Ter), and that the parents were carriers of this mutation. No other DNA variants that were explanatory for the sick sinus or the developmental delay/intellectual disability were identified, and no other clinical parameters are likely to have contributed to this unusual combination of phenotypes. The neurologic features of our patients are more severe than those of most of the other patients previously reported with GNB5 variants, probably because of the homozygous, complete loss-of-function (nonsense/stop-gain) nature of their variant, and their clinical course has been monitored for longer duration.