Kim Blake

A structured communication adolescent guide (SCAG): assessment of reliability and validity

Purpose  To assess the reliability and validity of a Structured Communication Adolescent Guide (SCAG) in an undergraduate medical education setting using trained adolescent raters.

Scoliosis in CHARGE: A prospective survey and two case reports

CHARGE syndrome was first identified as a cluster of congenital anomalies in 1979 and has since undergone diagnostic criteria modifications to include the major and minor characteristics that occur during infancy and childhood. As the individuals with CHARGE syndrome have aged into their adolescents and adulthood, it has become increasingly common for them to develop scoliosis. This article presents an older population of individuals with CHARGE syndrome and describes the prevalence of scoliosis, and identifiable risk factors for scoliosis. Two case reports demonstrate the variability of scoliosis in CHARGE syndrome. A survey of adults and adolescents with CHARGE syndrome was completed to collect information about late onset medical issues, and those identifying scoliosis as an issue, were further followed for more information. The total population (n = 31) and then the subgroup of individuals with scoliosis (n = 19) were analyzed. Sixty one percent (19 of 31) of this population was diagnosed with scoliosis. The age of CHARGE syndrome diagnosis was later in the scoliosis population (6.3 years compared to 3.7 years in the no scoliosis population). Growth hormone use was reported in 7 of 31 of the individuals; 6 of these subsequently were diagnosed with scoliosis (32% of the scoliosis group). Of the scoliosis subgroup, most were mild scoliosis but eight were diagnosed with moderate to severe scoliosis, and all of these were treated with either a brace (n = 5) or with surgical fusion (n = 2) and one individual had both. Scoliosis in CHARGE syndrome individuals is more common than previously reported, and the age of onset is earlier than when routine monitoring for scoliosis is recommended. The prevalence of scoliosis in the CHARGE syndrome population is higher than in the general population therefore, it is very important for physicians to carefully monitor the spine for the development of scoliosis in children with CHARGE syndrome, especially if they are being treated with growth hormone.

Understanding obstructive sleep apnea in children with CHARGE syndrome.

OBJECTIVE CHARGE syndrome occurs in approximately 1 in 8500 live births and is diagnosed clinically by combinations of major characteristics: choanal atresia, coloboma, characteristic ears, cranial nerve abnormalities and distinct temporal bone anomalies. More than 50% of children with CHARGE syndrome experience sleep disturbances, with obstructive sleep apnea being one diagnosis. Objectives of this study were to develop a better understanding of the prevalence, symptomatology and treatments of sleep apnea in CHARGE syndrome. Secondary aims were to determine the usefulness of questionnaires examining obstructive sleep apnea in a CHARGE syndrome population. METHODS Parents of 51 children with CHARGE syndrome (aged 0-14 years) were recruited between May 2010 and July 2011. Genetic testing and/or clinical criteria confirmed diagnosis of CHARGE syndrome. Questionnaires completed by parents included one covering CHARGE characteristics and three previously validated questionnaires: the Brouilette Score Questionnaire, the Pediatric Sleep Questionnaire and the OSA-18 Quality of Life Questionnaire. SPSS 19.0 was used for statistical calculations. RESULTS Previous diagnosis of obstructive sleep apnea was present in 65% of the study population. Treatments included continuous positive airway pressure, tonsillectomy and/or adenoidectomy, and tracheostomy. Brouilette scores identified the presence of obstructive sleep apnea in the CHARGE syndrome population studied and indicated statistically significant (p=<0.001) improvements following treatment, which were comparable to the general population. Only the subscales of snoring and daytime sleepiness were useful in identifying obstructive sleep apnea using the Pediatric Sleep Questionnaire. The OSA-18 Questionnaire indicated that residual symptoms affecting quality of life may be present in the CHARGE syndrome population after treatment for obstructive sleep apnea. CONCLUSIONS Obstructive sleep apnea appears to be prevalent in children with CHARGE syndrome. All conventional treatments for obstructive sleep apnea reduce symptomatology. Brouilette scores are useful in identifying obstructive sleep apnea in the CHARGE syndrome population. The Pediatric Sleep Questionnaire could be useful once modified. The OSA-18 Questionnaire would be most useful as a means to measure quality of life gains following treatment.

Risk factors for poor bone health in adolescents and adults with CHARGE syndrome

CHARGE syndrome, is associated with genital hypoplasia, feeding difficulties and delayed puberty. In this study we examined the prevalence of risk factors for poor bone health in adolescents and adults with CHARGE. Questionnaires assessing fracture history, dietary intake of calcium and vitamin D, pubertal status and activity level using the Habitual Activity Estimation Scale (HAES) were completed by caregivers. Control data were collected for the HAES. When available, reports from dual‐energy X‐ray absorptiometry (DEXA) were obtained. Thirty individuals with CHARGE syndrome (n = 15 males; n = 15 females; age range 13 to 34 years; mean age 19.6 years) were recruited. Traumatic bony fractures were identified in 30% of the population. The recommended nutritional intake (RNI) for calcium and vitamin D were not met by 41% and 87% of the population, respectively, and 53% required past tube feeding. Delayed puberty was experienced by 87% with only 4 individuals (2 female, 2 males) having experienced normal puberty. Hormone replacement therapy (HRT) was taken by 33% of females and 60% of males. According to the HAES, adolescents with CHARGE syndrome (13–18 years) were significantly less active than controls. Individuals with CHARGE syndrome age 19 and older were also less active than controls, although this difference was not significant. DEXA scan data was obtained, however, due to small sample size (n = 10) and confounding variables (i.e., short stature, pubertal stage, height, weight), it was difficult to draw meaningful conclusions. Feeding difficulties, inactivity and hypogonadism are predisposing factors for the development of poor bone health among individuals with CHARGE syndrome. Education is necessary to raise awareness regarding the importance of HRT, proper nutrition and weight‐bearing activity for healthy bone development and maintenance in individuals with CHARGE syndrome.

Structured clinical case PowerPoint™ presentations for distributed learning

The purpose of this project was to introduce problembased learning (PBL), a methodology that can theoretically enhance active learning as well as critical problem-solving skills. A pilot project, using PBL in addition to lectures, was introduced in Year 5 courses in paediatrics and obstetrics at our institution. What was done External faculty who were knowledgeable about PBL conducted a 2-day workshop in PBL for the purposes of tutor training. None of the 10 clinical faculty participants had worked with PBL methodology before. After the workshop, faculty established the learning objectives and wrote 3 cases for paediatrics and 3 for obstetrics. The 49 students were divided into 2 groups. In the first semester, 1 group used the paediatrics cases and the other the obstetrics cases in small tutorial groups of 5)6 students with 1 tutor. The groups switched over in the second semester. Each case was designed to be completed in 3 3-hour sessions. At the end of the 3 cases, the tutors evaluated the performance of each student in the group on 5 domains: interpersonal skills; learning skills; knowledge development; objectives achievement, and clinical reasoning skills. Scores ranged from 4 to 7 on a 7-point scale, with an average of 6.2. The total score comprised 10% of the total grade of the course. Evaluation of results and impact Evaluation of the learning intervention was performed using a student self-report questionnaire with 16 questions answered on a 5-point Likert scale and an open comments section. Three aspects were measured: the application of the method; learning preferences, and the development and analysis of critical thinking. More than 90% of the students reported that PBL increased their ability to think critically, and 98% said that the method made them review more literature than did conventional teaching. Students also reported differences in their perceptions of the different tutors. The present study documents the potential advantages offered by PBL in a poorly resourced school. As assessed by tutors, students achieved the standard of performance required in paediatrics and obstetrics on the 5 domains measured. The students also preferred this method and reported increased self-learning and critical thinking skills. The intervention had a positive impact on the attitude of faculty, who are sustaining the new teaching methodology.

Reply to letter to the editor by Lowry et al.: An epidemiological analysis of CHARGE syndrome: Preliminary results from a Canadian study [Issekutz et al., 2005]

Dr. Brian Lowry and colleagues, in their letter to the journal have included important discussion points concerning our recent publication [Issekutz et al., 2005]. We agree with Dr. Lowry that for rare conditions such as CHARGE syndrome, longitudinal ascertainment over many years is necessary. Our study details only the preliminary findings from a 3-year surveillance, and Dr Lowry will be assured of the ongoing collection of data through multiple venues that continues across Canada including otolaryngologists, ophthalmologists, and geneticists. We feel strongly that the incidence of CHARGE syndrome is more in keeping with our Atlantic province data (1:8,500 live births) than the figure from Dr. Lowry’s team through the Alberta birth defect surveillance (1:51,000). As Dr. Lowry acknowledges, we have great interest and experience in CHARGE syndrome from many research perspectives [Dobbelsteyn et al., 2005; Doyle and Blake, 2005; Searle et al., 2005; Smith et al., 2005], including gene testing in the near future. This creates a situation of identifying an affected population that may not have been diagnosed with CHARGE in their early years because the classical features were either not present or subtle. The problem with registries is that they only record those anomalies that can be detected shortly after birth. Hence, they may miss the most characteristic findings of CHARGE syndrome due to lack of adequate descriptive terms or the presence of occult pathognomonic anomalies (distinctive ears, retinal colobomata, cranial nerve defects, and temporal bone anomalies) resulting in incomplete ascertainment. It is also possible that there is a genetic and casual heterogeneity that explains the marked variability in findings, possibly justifying retention of the term CHARGE association for some cases [Pagon et al., 1981]. Data from three Congenital Malformation Registries involving 5.43 million births in three countries varied in their rates of choanal atresia and subsequently, in their ascertainment of CHARGE syndrome, and this is not the most frequent feature inCHARGEsyndrome.Thefigure for choanal atresiawas 0.82/ 10,000 births in all three samples: SWEDEN: 0.54/10,000; mandatory report at birth; 0 ‘‘CHARGE’’ per 1.95 million births. FRANCE: 0.78/10,000; voluntary reports by trained pediatricians through age 1 year, with 12 ‘‘CHARGE’’ per 1.95 million births. However in CALIFORNIA: 1.13/10,000; staff reviews hospital and genetics clinic records through age 1 year, with 46 ‘‘CHARGE’’ per 1.9 million births. This illustrates howdifferentmodes of ascertainment canmarkedly influence estimates of incidence. An attempt to compare birth defects surveillance registry data with the epidemiological data from the Canadian Pediatric Surveillance Program data would be extremely useful. However, not all Canadian provinces have birth registries and that was one of the reasons we used the CPSP (Canadian Pediatric Surveillance Program) to do the incidence estimates for CHARGE syndrome in Canada. Wehave also observed a distinct pattern of characteristics in the older individuals with CHARGE syndrome, which need to be considered in the clinical diagnosis ofCHARGE [Blake et al., 2005; Searle et al., 2005]. As a result, we have detailed criteria for this older population [Issekutz et al., 2005], which include pubertal delay, hypogonadotropic hypogonadism, and osteoporosis [Forward et al., 2005]. With the recent gene findings in CHARGE syndrome, we are now aware of CHARGE individuals that do not have either coloboma or choanal atresia, which have previously been the mainstay for the clinical diagnosis. The criteria defined by Blake et al. [1998], with the addition of temporal bone findings as suggested by Graham [2001], have been found to be highly specific for detecting mutations in CHD7 [Jongmans et al., 2005] but there may be some individuals who did not meet the clinical diagnostic criteria for our study thatmaybepositive for mutations in the CHD7 gene. We did not address the issue of where the individuals were born, and as we continue to collect the epidemiological data, this will be amended. We agree with Dr. Lowry, not all geneticistswere included in theCPSPsurveyandweare trying to rectify thiswith continued interest inCHARGEsyndrome in Canada.