Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease.

BACKGROUND AND OBJECTIVE: Pompe disease (PD) is an inherited lysosomal storage disease that progresses with glycogen accumulation in many tissues, due to the deficiency of the acid-alpha glucosidase enzyme. Recombinant alglucosidase alfa (rhGAA) is the only disease-specific treatment option, in the form of enzyme replacement therapy (ERT). Anaphylaxis can develop with rhGAA. There is no study evaluating anaphylaxis and its management in PD in the long term. We aimed to evaluate the development of anaphylaxis and rapid drug desensitization (RDD) with rhGAA in children with PD. MATERIALS AND METHODS: All children diagnosed and followed up in our institution with PD over 12 years between January 2009 and September 2021 were evaluated for development of anaphylaxis and RDD with rhGAA from medical records. RESULTS: Fourteen patients, 64% of whom were female and diagnosed with PD (1 juvenile, 13 infantile types) during the study period included in the study. The median age at diagnosis was 3.2 months (1-40 months). The median follow-up time of the patients was 20 months (1-129 months). Thirteen patients were given rhGAA, one died before ERT. Four (30.8%) patients developed moderate to severe anaphylaxis, and RDD was applied with rhGAA. A total of 390 RDDs have been performed so far without any serious breakthrough reactions during all RDDs. CONCLUSIONS: Anaphylaxis with rhGAA is not rare and RDD with rhGAA is safe and effective in the long term.

A novel pediatric Eosinophilic Esophagitis Symptoms and Adaptive Behavior Scale for different ages: GaziESAS v2.0.

BACKGROUND: High-quality scales (HQS) suitable that measure symptoms and adaptive behaviors (AB) with proven validity and reliability are needed for different age groups of children with eosinophilic esophagitis (EoE). OBJECTIVE: To develop a high-quality pediatric EoE symptoms and AB scale for different age groups. METHODS: Children (7-11 years), teens (12-18 years), and parents of 2-18-year-old children with EoE were included. A HQS should have encompassed: the identification of domain and item generation; content validity (CnV) and field test for construct validity (CsV) and reliability. Convergent validity (CgV) was examined for CsV. Correlations between the Pediatric Eosinophilic Esophagitis Symptom Score, version 2.0 (PEESS v2.0) and Gazi University Eosinophilic Esophagitis Symptoms and Adaptive Behavior Scale (GaziESAS) version 2.0 (v2.0) were examined for CgV. Reliability was determined through internal consistency (Cronbach-α) and test-retest reliability (intraclass correlation coefficients: ICC). RESULTS: Nineteen children, 42 teens, and 82 parents completed the study. GaziESAS v2.0 was composed of 20 items with two main domains: symptoms (subdomains: dysphagia and nondysphagia) and AB. CnV indexes were excellent for all items. The CgV varied from good to excellent correlation (r = 0.6 to r = 0.9). GaziESAS v2.0 showed good reliability (Cronbach-α >0.7 and ICC >0.6). CONCLUSION: GaziESAS v2.0 is the first pediatric HQS that measures the frequency of symptoms and AB in EoE within the last month with separate forms for children, teens, and parents.

Is the Pediatric Eosinophilic Esophagitis Symptom Score v2.0 reliable for telemedicine?

BACKGROUND: Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease. Telemedicine is a healthcare technology used when a patient is separated by distance. The reliability of the Pediatric Eosinophilic Esophagitis Symptom Score, version 2.0 (PEESS v2.0) for telemedicine applications, has not been studied yet. Therefore, we aimed to evaluate the reliability of PEESS v2.0 for telemedicine. METHODS: We sent a telesurvey using questionnaires via electronic telecommunication as the telemedicine method. Children with EoE and their parents were asked to complete PEESS v2.0 with the telesurvey method (unsynchronized with the physician) and attend in-person visits one week apart. Intraclass correlation (ICC), Wilcoxon, and Bland-Altman tests were used as reliability analyses. Reliability was defined as a strong agreement between the measurements in ICC ≥ 0.8 and a p-value of ≤0.05 and no statistically significant difference between the scores of the two methods in the Wilcoxon and Bland-Altman analyses, i.e. a p-value of >0.05. RESULTS: The total scores of children and parents were higher in in-person visits than in the telesurvey (Wilcoxon tests, p ≤ 0.05). Bland- Altman analysis showed that the mean difference in total scores between the two methods was significant for both children and parents (p ≤ 0.05). ICC levels for the children and parent scores for the entire group ranged from 0.595 to 0.763 (moderate agreement). DISCUSSION: Unsynchronized telesurvey use of PEESS v2.0 is unreliable both for children and parents. We suggest testing the reliability of chosen telemedicine methods before using them in clinical and research practice.

The effect of the COVID-19 pandemic on long-term treatment compliance and disease control in children with persistent asthma.

BACKGROUND: No long-term data exists on asthma treatment compliances (ATC), exacerbations (AE), and control (AC) during the COVID-19 pandemic in children. This study aimed to evaluate ATC, AE, AC and the related factors among children with persistent asthma (PA) within the first year of the pandemic Methods. Children aged 6-18 years with PA who were under regular inhaled corticosteroid treatment for at least a year prior to the first COVID-19 case in Türkiye were included. Data on AE and AC were collected from medical files. Factors affecting ATC and AC as well as COVID-19 history were assessed by means of a questionnaire. RESULTS: The study included 247 cases. COVID-19 was detected in 14.5% of them. In the first year of the pandemic, ATC decreased to 56.7% and the most common reason was the absence of asthma symptoms. There was a significant improvement in AC (p < 0.001). The number of upper respiratory tract infections (URTI) and AE were significantly decreased during the first year of the pandemic (p < 0.001). COVID-19 infection, smoking in the household, school attendance, a family member working outside the home, house dust mite sensitization or allergic rhinitis had no significant effect on AC (p > 0.05). Regression analysis determined that children who did not have any URTI had 2.4 times better AC compared to those who had (p= 0.02; %95 CI: 1.1-5.4). CONCLUSIONS: Although ATC decreased significantly in the long-term in the first year of the pandemic, significant improvement was observed in AE and AC compared to the previous year, which was related only to not having URTI.

Cyclopentolate eye drops-induced anaphylaxis in an infant.

BACKGROUND: Cyclopentolate is frequently used as a mydriatic agent during ophthalmological examinations in childhood and hypersensitivity reactions associated with this drug are rare. We aim to report an infant who experienced anaphylaxis due to cyclopentolate eye drops. CASE: A nine-month-old girl, who was being followed up with a diagnosis of retinoblastoma, presented for consultation for urticaria, cough, stridor, and dyspnea that developed after the administration of topical cyclopentolate to the eyes. The patient was diagnosed with anaphylaxis and treated with adrenaline. During the follow-up, tropicamide was used safely as an alternative drug. CONCLUSIONS: In children, hypersensitivity reactions due to cyclopentolate are very rare. Only four pediatric patients were reported in the literature to have developed an allergic reaction after the administration of cyclopentolate eye drops. We present here the youngest patient who developed anaphylaxis with cyclopentolate eye drops. Anaphylaxis due to cyclopentolate should be kept in mind, rapidly recognized, and treated when a reaction develops.