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Does The Severity And Frequency Of Hereditary Angioedema Attacks Change With Age? A Patient Perspective
AB168 Abstracts
658
Multiplex, Quantitative, Real-time PCR Is A Sensitive, Inexpensive And Rapid Assay To Detect Digeorge Syndrome (DGS1) And Can Be Adapted To Newborn Screening A. T. Mitchell1, D. Mahnke1, D. Mickle2, P. Simpson1, W. Grossman1, K. Sullivan3, B. S. Emanuel3, J. S. Tweddell1, M. E. Mitchell1, M. W. Baker4, J. M. Routes1; 1Medical College of Wisconsin, Milwaukee, WI, 2Wisconsin State Laboratory of Hygiene/University of Wisconsin-Madison, Madison, WI, 3Children’s Hospital of Philadelphia, Philadelphia, PA, 4Wisconsin State Laboratory of Hygiene/University of Wisconsin-Madison, Madison, WI. RATIONALE: DiGeorge Syndrome (DGS1), chromosome 22q11.2 deletion syndrome, affects 1:4000 live births. Early diagnosis and medical intervention can prevent and treat many of the co-morbidities and mortalities associated with DGS1. The gold standard for detection is fluorescence in situ hybridization (FISH) with a probe at the TUPLE1 gene. However, FISH has a high false negative rate (15%), is costly, and requires several days to perform. As a result, FISH is underutilized and diagnosis is delayed (6 to 7 years of age). The goal of this study was to determine if multiplexed, quantitative, real-time PCR (MQPCR), a rapid and inexpensive assay, could be used to detect DGS1. METHODS: A blinded study was performed on 684 punches using DNA extracted from anonymous newborn screening cards (Guthrie cards) from 628 individuals. 59 punches came from three DGS1 subjects who had a FISH test indicating deletion. The MQPCR approach enabled the simultaneous use of a reference probe (chromosome 19) to compare with a probe of interest near the TBX1 gene on chromosome 22. An average relative gene copy number (rGCN) was calculated per plate with a threshold of 1.4 SDs to determine normal vs DGS1. RESULTS: 600 punches were identified as normal and 84 punches were identified as DGS1. The sensitivity and specificity of the assay for DGS1 was 100% and 96.04%, respectively. CONCLUSIONS: In summary, the MQPCR assay is a rapid (<4 hrs), inexpensive (< $6 per patient), and sensitive assay to diagnose DGS1. The assay has potential for population-based newborn screening.
MONDAY
659
The Online Version of the ÔFood Allergy Quality of Life Questionnaire - Adult FormÕ in the USA N. J. Goossens1, B. M. J. Flokstra-de Blok1, B. J. Vlieg-Boerstra1, E. J. Duiverman1, C. Weiss2, T. J. Furlong2, A. E. J. Dubois1; 1UMC Groningen, Groningen, NETHERLANDS, 2The Food Allergy & Anaphylaxis Network, Fairfax, VA. RATIONALE: Electronic versions of quality of life questionnaires may be particularly useful in a cross-cultural comparisons. Therefore, the aims of this study were to translate the ÔFood Allergy Quality of Life Questionnaire - Adult FormÕ (FAQLQ-AF) into English and validate an online version in an American cultural-linguistic setting. Additionally, quality of life of American and Dutch food allergic adults was compared. METHODS: The Dutch FAQLQ-AF was translated into English as prescribed by the World Health Organization and converted to an electronic online format. Participants (food allergic American adults) were recruited through the ÔFood Allergy and Anaphylaxis NetworkÕ website and completed the questionnaire online. Construct validity and discriminative ability were analyzed. A cross-cultural comparison was made using the Dutch FAQLQ-AF scores. RESULTS: Data from 179 American participants were analyzed. The online FAQLQ-AF had a good construct validity (correlation with the FAIM: r5 0.71; p<0.001) and was discriminative. The American participants reported significantly more impairment in quality of life than the Dutch participants (4.3 vs. 3.5; p<0.001). American participants found the social impairment of having a food allergy more troublesome than Dutch respondents. Additionally, Americans were more worried about their health, less insecure about the type of food they are allergic to and felt as satisfied as Dutch respondents about food labeling. CONCLUSIONS: The online American FAQLQ-AF is a valid tool for measuring health-related quality of life in food allergic patients. Quality
J ALLERGY CLIN IMMUNOL FEBRUARY 2010
of life of American food allergic adults may be more impaired than Dutch food allergic adults.
660
Does The Severity And Frequency Of Hereditary Angioedema Attacks Change With Age? A Patient Perspective M. Lunn; Penn State University Hershey Medical Center, Hershey, PA. RATIONALE: Hereditary angioedema (HAE) is a lifelong disease with an unpredictable course. Patients with early disease onset and women have a more severe course. However, anecdotal data suggests severity, frequency, or the location of attacks change or worsen with advancing age. METHODS: HAE patients from the United States, United Kingdom, France, Germany, and The Netherlands were invited by local HAE organizations to participate in the International Survey of Patient Experience of Hereditary Angioedema. Invitations were sent out by e-mail and mail containing a link to an online survey. Each respondent completed a 30-minute questionnaire conducted in his/her native language asking the following four questions graded on a scale from 1 (strongly disagree) to 7 (strongly agree): In general do HAE attacks become more frequent with age? Have the number of affected sites increased with age? Have attacks become more life threatening with age? Does the degree of swelling at affected sites increase with age? RESULTS: A total of 313 patients with an average age of 37 completed the questionnaire. The average response for each question was as follows: attacks becoming more frequent with age - 4.01, the number of affected sites increasing with age - 3.88, attacks becoming more life-threatening with age - 3.77, the degree of swelling increasing with age - 3.58. CONCLUSIONS: It does not appear that symptoms, location, or frequency of attacks change with advancing age.
661
Quality of Life For Caregivers With Asthmatic Children Is Influenced By Their Confidence On Doctors Y. Ohya, M. Narita, A. Akasawa; National Center for Child Health and Development, Tokyo, JAPAN. RATIONALE: We developed the quality of life (QOL) assessment scale for caregivers with asthmatic children who had been followed up by pediatric allergy specialists, as we reported in the last annual meeting. Results derived from that study implied some factors except asthma exacerbation would also influence their QOL. The aim of this study is to investigate caregivers’ factors to influence their QOL. (We named the new scale QOLCA). METHODS: Based on the qualitative study data gathered from more than 100 caregivers with asthmatic children, the secondary questionnaire to ask caregiver’s attitude and knowledge about asthma therapy was originally developed. The questionnaire and QOLCA were applied to about 900 hundreds caregivers with asthmatic children. Their answers were collected anonymously and analyzed through psychometric procedure including factor analysis. RESULTS: Caregivers in the upper third group in the factor score of confidence in the doctor showed better score in QOLCA than those in the lower third group (36.9 vs 34.9, P<0.05). The mean QOLCA score of upper third group in the score of anxiety about side effects of inhaled cortico-steroid (ICS) was worse than that of lower third group (33.5 VS 37.3, P<0.0001). Those with higher score group about asthma knowledge showed better QOLCA score than those with lower score group (37.4 vs 35.4, P5 0.001). CONCLUSIONS: Caregivers confidence in doctors is an important predictors for their good QOL. To improve caregivers’ QOL, we should eliminate their anxiety about ICS by providing proper information with sincere attitude.
658
Multiplex, Quantitative, Real-time PCR Is A Sensitive, Inexpensive And Rapid Assay To Detect Digeorge Syndrome (DGS1) And Can Be Adapted To Newborn Screening A. T. Mitchell1, D. Mahnke1, D. Mickle2, P. Simpson1, W. Grossman1, K. Sullivan3, B. S. Emanuel3, J. S. Tweddell1, M. E. Mitchell1, M. W. Baker4, J. M. Routes1; 1Medical College of Wisconsin, Milwaukee, WI, 2Wisconsin State Laboratory of Hygiene/University of Wisconsin-Madison, Madison, WI, 3Children’s Hospital of Philadelphia, Philadelphia, PA, 4Wisconsin State Laboratory of Hygiene/University of Wisconsin-Madison, Madison, WI. RATIONALE: DiGeorge Syndrome (DGS1), chromosome 22q11.2 deletion syndrome, affects 1:4000 live births. Early diagnosis and medical intervention can prevent and treat many of the co-morbidities and mortalities associated with DGS1. The gold standard for detection is fluorescence in situ hybridization (FISH) with a probe at the TUPLE1 gene. However, FISH has a high false negative rate (15%), is costly, and requires several days to perform. As a result, FISH is underutilized and diagnosis is delayed (6 to 7 years of age). The goal of this study was to determine if multiplexed, quantitative, real-time PCR (MQPCR), a rapid and inexpensive assay, could be used to detect DGS1. METHODS: A blinded study was performed on 684 punches using DNA extracted from anonymous newborn screening cards (Guthrie cards) from 628 individuals. 59 punches came from three DGS1 subjects who had a FISH test indicating deletion. The MQPCR approach enabled the simultaneous use of a reference probe (chromosome 19) to compare with a probe of interest near the TBX1 gene on chromosome 22. An average relative gene copy number (rGCN) was calculated per plate with a threshold of 1.4 SDs to determine normal vs DGS1. RESULTS: 600 punches were identified as normal and 84 punches were identified as DGS1. The sensitivity and specificity of the assay for DGS1 was 100% and 96.04%, respectively. CONCLUSIONS: In summary, the MQPCR assay is a rapid (<4 hrs), inexpensive (< $6 per patient), and sensitive assay to diagnose DGS1. The assay has potential for population-based newborn screening.
MONDAY
659
The Online Version of the ÔFood Allergy Quality of Life Questionnaire - Adult FormÕ in the USA N. J. Goossens1, B. M. J. Flokstra-de Blok1, B. J. Vlieg-Boerstra1, E. J. Duiverman1, C. Weiss2, T. J. Furlong2, A. E. J. Dubois1; 1UMC Groningen, Groningen, NETHERLANDS, 2The Food Allergy & Anaphylaxis Network, Fairfax, VA. RATIONALE: Electronic versions of quality of life questionnaires may be particularly useful in a cross-cultural comparisons. Therefore, the aims of this study were to translate the ÔFood Allergy Quality of Life Questionnaire - Adult FormÕ (FAQLQ-AF) into English and validate an online version in an American cultural-linguistic setting. Additionally, quality of life of American and Dutch food allergic adults was compared. METHODS: The Dutch FAQLQ-AF was translated into English as prescribed by the World Health Organization and converted to an electronic online format. Participants (food allergic American adults) were recruited through the ÔFood Allergy and Anaphylaxis NetworkÕ website and completed the questionnaire online. Construct validity and discriminative ability were analyzed. A cross-cultural comparison was made using the Dutch FAQLQ-AF scores. RESULTS: Data from 179 American participants were analyzed. The online FAQLQ-AF had a good construct validity (correlation with the FAIM: r5 0.71; p<0.001) and was discriminative. The American participants reported significantly more impairment in quality of life than the Dutch participants (4.3 vs. 3.5; p<0.001). American participants found the social impairment of having a food allergy more troublesome than Dutch respondents. Additionally, Americans were more worried about their health, less insecure about the type of food they are allergic to and felt as satisfied as Dutch respondents about food labeling. CONCLUSIONS: The online American FAQLQ-AF is a valid tool for measuring health-related quality of life in food allergic patients. Quality
J ALLERGY CLIN IMMUNOL FEBRUARY 2010
of life of American food allergic adults may be more impaired than Dutch food allergic adults.
660
Does The Severity And Frequency Of Hereditary Angioedema Attacks Change With Age? A Patient Perspective M. Lunn; Penn State University Hershey Medical Center, Hershey, PA. RATIONALE: Hereditary angioedema (HAE) is a lifelong disease with an unpredictable course. Patients with early disease onset and women have a more severe course. However, anecdotal data suggests severity, frequency, or the location of attacks change or worsen with advancing age. METHODS: HAE patients from the United States, United Kingdom, France, Germany, and The Netherlands were invited by local HAE organizations to participate in the International Survey of Patient Experience of Hereditary Angioedema. Invitations were sent out by e-mail and mail containing a link to an online survey. Each respondent completed a 30-minute questionnaire conducted in his/her native language asking the following four questions graded on a scale from 1 (strongly disagree) to 7 (strongly agree): In general do HAE attacks become more frequent with age? Have the number of affected sites increased with age? Have attacks become more life threatening with age? Does the degree of swelling at affected sites increase with age? RESULTS: A total of 313 patients with an average age of 37 completed the questionnaire. The average response for each question was as follows: attacks becoming more frequent with age - 4.01, the number of affected sites increasing with age - 3.88, attacks becoming more life-threatening with age - 3.77, the degree of swelling increasing with age - 3.58. CONCLUSIONS: It does not appear that symptoms, location, or frequency of attacks change with advancing age.
661
Quality of Life For Caregivers With Asthmatic Children Is Influenced By Their Confidence On Doctors Y. Ohya, M. Narita, A. Akasawa; National Center for Child Health and Development, Tokyo, JAPAN. RATIONALE: We developed the quality of life (QOL) assessment scale for caregivers with asthmatic children who had been followed up by pediatric allergy specialists, as we reported in the last annual meeting. Results derived from that study implied some factors except asthma exacerbation would also influence their QOL. The aim of this study is to investigate caregivers’ factors to influence their QOL. (We named the new scale QOLCA). METHODS: Based on the qualitative study data gathered from more than 100 caregivers with asthmatic children, the secondary questionnaire to ask caregiver’s attitude and knowledge about asthma therapy was originally developed. The questionnaire and QOLCA were applied to about 900 hundreds caregivers with asthmatic children. Their answers were collected anonymously and analyzed through psychometric procedure including factor analysis. RESULTS: Caregivers in the upper third group in the factor score of confidence in the doctor showed better score in QOLCA than those in the lower third group (36.9 vs 34.9, P<0.05). The mean QOLCA score of upper third group in the score of anxiety about side effects of inhaled cortico-steroid (ICS) was worse than that of lower third group (33.5 VS 37.3, P<0.0001). Those with higher score group about asthma knowledge showed better QOLCA score than those with lower score group (37.4 vs 35.4, P5 0.001). CONCLUSIONS: Caregivers confidence in doctors is an important predictors for their good QOL. To improve caregivers’ QOL, we should eliminate their anxiety about ICS by providing proper information with sincere attitude.