Agreement between parent-proxy and child self-report in pediatric hypermobile Ehlers-Danlos syndrome.

Hypermobile Ehlers-Danlos syndrome (hEDS) is a common disorder in children and adolescents that negatively impacts health-related quality of life (HRQOL). It can include chronic pain, fatigue, autonomic dysfunction, and mood problems. The objective of this study was to examine levels of agreement between children and parents in the setting of hEDS and HRQOL. Individuals with hEDS, ages 10-20 years, and their parents were recruited to complete a series of surveys. Instruments included pediatric quality of life generic and multidimensional fatigue scales, Functional Disability Index, Pain-Frequency-Severity-Duration scale, Brief Illness Perception Questionnaire, and Herth Hope Index. Agreement on each measure was evaluated using statistical calculations. Thirty-six parent-child dyads completed the surveys. There were no significant differences between the means of parent and child scores. There was moderate to strong agreement on all survey scores. However, the proportion of dyads with disagreement was relatively high for each individual score. Eighteen dyads disagreed on at least half of the surveys. Body mass index centile and child perception of cognitive fatigue most strongly predicted disagreement in total HRQOL score. Proxy-reporters for children and adolescents with hEDS may agree with their child on average. However, due to significant frequency of clinically important disagreement, information from both children and their parents should be sought whenever possible.

Considerations in Methods and Timing for Delivery of Genetic Counseling Information to Pediatric Oncology Patients and Families.

Many pediatric oncology patients and their families may benefit from genetic counseling and testing; however, identifying the best timing and delivery method for these referrals is sometimes a challenge. The goal of this study was to understand how and when caregivers prefer to receive information about genetic counseling and testing. A total of 56 surveys completed by caregivers at The Johns Hopkins Hospital Pediatric Oncology unit in Baltimore, Maryland were analyzed. A sizeable subset of respondents was interested in receiving information about the availability of genetic counseling from an oncology doctor or nurse, but not a genetic counselor (n=13/55, 24%). Most respondents preferred to be informed about genetic services at diagnosis (n=28/54, 52%) or within 1 to 2 months of diagnosis (n=14/54, 26%). In conclusion, patients and their families may benefit from prompt and early recognition of the risk of cancer predisposition syndromes, preferably within the first 2 months following diagnosis. Oncology professionals are an important source of information, and can introduce the availability of genetic counseling services and motivate families to undergo genetic testing, though alternative communication methods such as brochures may also be useful.

Improving Detection of Cancer Predisposition Syndromes in Pediatric Oncology.

Implementation and adherence to consensus statement criteria for referral of pediatric cancer patients for genetic evaluation are critical to identify the 5% to 10% with a genetic cancer predisposition syndrome. The authors implemented a Plan-Do-Study-Act quality improvement initiative aimed at increasing referrals of at-risk patients. Retrospective chart review was followed by educational intervention-with impact assessed over a 9-month prospective chart review. Referral rate improved >2-fold and there was an improvement in documented oncologic history to at least a third-degree relative. The integration of quality improvement can be an effective tool to improve the referral of patients with an elevated risk for a cancer predisposition syndrome.

The impact of the number of tests presented and a provider recommendation on decisions about genetic testing for cancer risk.

OBJECTIVE: To determine how the method of presenting testing options and a provider recommendation can influence a decision about genetic testing for inherited cancer predispositions. METHODS: An online hypothetical vignette study was completed by 454 healthy volunteers. Participants were randomized to receive one of two survey versions which differed by genetic testing choice presentation. One group was shown three options simultaneously (no test, 5-gene or 15-gene), and a second group received the 15-gene option after choosing between the no test and 5-gene options. A preference-based provider recommendation was also incorporated. We examined the effect of these interventions on test selection. RESULTS: Participants in the simultaneous group were more likely to choose a genetic test than those in the sequential group (OR: 2.35, p=0.003). This effect was no longer observed when individuals who had selected no-test in the sequential group were told about the 15-gene test (OR: 1.03 p=0.932). Incorporating a provider recommendation into the hypothetical scenario led to more preference-consistent choices (χ2 = 8.53, p < 0.0035,). CONCLUSIONS: A larger menu of testing choices led to higher testing uptake. A preference-based clinician recommendation resulted in more preference-consistent choices. PRACTICE IMPLICATIONS: The structuring of testing options and preference-sensitive recommendations appear to facilitate informed testing decisions.

Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders.

Hypermobile Ehlers-Danlos syndrome (hEDS) is a hereditary disorder of connective tissue, often presenting with complex symptoms can include chronic pain, fatigue, and dysautonomia. Factors influencing functional disability in the pediatric hEDS population are incompletely studied. This study's aims were to assess factors that affect quality of life in children and adolescents with hEDS. Individuals with hEDS between the ages 12-20 years and matched parents were recruited through retrospective chart review at two genetics clinics. Participants completed a questionnaire that included the Pediatric Quality of Life Inventory (PedsQL™), PedsQL Multidimentional Fatigue Scale, Functional Disability Inventory, Pain-Frequency-Severity-Duration Scale, the Brief Illness Perception Questionnaire, measures of anxiety and depression, and helpful interventions. Survey responses were completed for 47 children and adolescents with hEDS/hypermobility spectrum disorder (81% female, mean age 16 years), some by the affected individual, some by their parent, and some by both. Clinical data derived from chart review were compared statistically to survey responses. All outcomes correlated moderately to strongly with each other. Using multiple regression, general fatigue and pain scores were the best predictors of the PedsQL total score. Additionally, presence of any psychiatric diagnosis was correlated with a lower PedsQL score. Current management guidelines recommend early intervention to prevent disability from deconditioning; these results may help identify target interventions in this vulnerable population.

Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes.

The objective of this study was to explore the factors contributing to quality of life in pediatric patients with non-vascular Ehlers-Danlos syndromes (EDS). Data were analyzed on 41 children with a diagnosis of non-vascular EDS from the de-identified data available from the National Institute on Aging (NIA) study of heritable disorders of connective tissue. Children under age 19 years were seen as part of a long-term evaluation project from 2003 to 2013 on a larger natural history of patients with heritable disorders of connective tissue. Data collected included medical history, physical examination findings, diagnostic study results, and responses on validated questionnaires. We reviewed a sub-cohort of children with a diagnosis of non-vascular EDS and explored pain severity and interference via the Brief Pain Inventory, and sleep quality via the Pittsburgh Sleep Quality Index. Pain severity had a strong correlation with pain interference, and both were similar to other disorders that include chronic pain reported in the literature. Sleep quality did not correlate with pain severity or interference, but all patients had poor sleep quality in comparison to historical controls. We conclude that pain and sleep are significant issues in the pediatric non-vascular EDS population, and future research may be directed toward these issues.