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Journal of Indian Association of Pediatric Surgeons
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Table of Contents   
ORIGINAL ARTICLE
Year : 2023  |  Volume : 28  |  Issue : 6  |  Page : 457-464
 

Quality-of-life assessment among children with esophageal achalasia


Department of General Pediatric Surgery, Mother and Child Unit, Mohammed VI University Hospital, Cadi Ayyad University, Marrakesh, Morocco

Date of Submission27-Mar-2023
Date of Decision26-May-2023
Date of Acceptance31-May-2023
Date of Web Publication02-Nov-2023

Correspondence Address:
Mohamed Oulad Saiad
Department of General Pediatric Surgery, Mother and Child Unit, Mohammed VI University Hospital, Cadi Ayyad University, Marrakesh
Morocco
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jiaps.jiaps_67_23

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   Abstract 


Purpose: Analyze the surgical management strategy and the current effects on Quality of Life of diagnosed Esophageal Achalasia (EA) patients in our department, with an assessment of the incidence, clinical course, and related disorders.
Methods: Data was based on a retrospective review of all children who received achalasia treatment at our department between 2008 and 2022. Using the Pediatric Quality of Life Inventory Generic Core (PedsQL) Scales and the Pediatric-QL Gastrointestinal Symptoms Module (GI-PedsQL), we evaluated the long-term effects of this diagnosis on our patients' quality of life.
Results: Esophageal achalasia (EA) was identified in a total of 13 cases (F: 7; M: 6). The mean patient delay was 27.90 months, and the median age was 6.5 years at diagnosis (2 months to 15 years). Regurgitation was the most frequently observed symptom, and the median follow-up was 7.32 (3- 30.7) months. There were descriptions of associations with Allgrove syndrome (n=7) and Down syndrome (n=1). All patients were treated by Open Heller myotomy (OHM) with one patient (n=1) initially treated by pneumatic dilatation (PD). In all 13 laparotomy myotomies, simultaneous fundoplication was performed using the DOR (n=12) and THAL (n=1) techniques. At follow-up, 12 patients had complete symptom relief with 1 patient exhibiting a persistence of symptoms. All 13 patients were prospectively contacted with a median time from latest check-up to date of inclusion of 2.9 (0.3-8.8) years. In comparison to data from a control group of EA patients, the overall PedsQL score of our patients was 72/100 (±17), with higher established scores in physical and emotional functioning but lower scores in social and school settings. On the other hand, when compared to a control group presenting with a gastroesophageal reflux disease (GERD), the GI-PedsQL overall score in our patients was higher with a 76/100 (±14.9), but they scored significantly lower in the dimensions: Foods and drinks limitations, difficulty swallowing, heartburn and vomiting.
Discussion: Our study group's characteristics join most of the published literature with 54% of our patients presenting with Allgrove syndrome but it also joins the much rarer descriptions of Achalasia and Down's syndrome association with a singular case. The clinical course of our diagnosis process mainly consisted of timed esophagram and UGI endoscopy, lacking significantly in HREM evaluations but was efficient enough in guiding the surgical management. Our findings confirm the safety and effectiveness of Open Heller's myotomy with a success rate of 92.3% However, we concede that a laparoscopic approach should be further adopted if no contradiction is found. Moreover, we presented insight on long term QoL of patients posteriori to HM which was in concordance with other global experiences where patients reported dissatisfaction with their health and limited lifestyle. This significant negative impact was prominently present in comparison to healthy control groups as well as patients with inflammatory bowel diseases and compels a much needed discussion on the major chronic repercussions of Esophageal Achalasia in children.
Conclusion: Even when managed by interdisciplinary teams of professionals, managing esophageal achalasia in specialized institutions is still a subject of debate. Early pediatric diagnosis is best achieved with routine physiological function tests and HREM. Moreover, more research is required to assess long-term Quality of Life. Standardized lifelong follow-up and qualified resources, both human and technological, are required to improve postoperative outcomes.


Keywords: Children, dysphagia, esophageal achalasia, fundoplication, Heller myotomy, quality of life


How to cite this article:
Saiad MO, Idrissi Bahre MN, Ryad N. Quality-of-life assessment among children with esophageal achalasia. J Indian Assoc Pediatr Surg 2023;28:457-64

How to cite this URL:
Saiad MO, Idrissi Bahre MN, Ryad N. Quality-of-life assessment among children with esophageal achalasia. J Indian Assoc Pediatr Surg [serial online] 2023 [cited 2023 Dec 9];28:457-64. Available from: https://www.jiaps.com/text.asp?2023/28/6/457/389330





   Introduction Top


Esophageal achalasia (EA) in children is an uncommon yet classic neurodegenerative dysmotility of the esophagus. The primary motor disorder is characterized by insufficient relaxation of the lower esophageal sphincter (LES), absence of peristalsis in the esophageal body, and increased LES resting pressure during swallowing, which produces difficulties in the emptying of food from the esophagus into the stomach, causing food stasis.[1] The pathophysiology involves the selective degeneration of inhibitory neurons of the esophageal myenteric (Auerbach's) plexus that innervates the LES and esophageal body. The precise cause of this degeneration process is still unknown.[2]

In the pediatric population, the estimated annual incidence is nearly ten times less than that in adults ranging from 0.02 to 0.31 cases per 100,000 kids.[3]

In childhood, achalasia is most often misdiagnosed due to an overlap of symptoms profile in common childhood diseases, including progressive dysphagia, vomiting, and regurgitation. Symptoms vary with age and more atypical presentations are seen in toddlers and infants.[4]

Achalasia is also often described in association with Trisomy 21, familial dysautonomia and glucocorticoid insufficiency, congenital central hypoventilation, as well as Allgrove syndrome or triple A syndrome (3A). Allgrove syndrome is a genetic disorder of autosomal recessive transmission associating in its complete form, EA, alacrima, and adrenal insufficiency.[5] The high LES pressure noted in patients with 3A is suggestive of a peculiar pattern in 3A affecting the LES and the lower part of the esophagus.

Although the diagnosis of EA can be suspected on clinical symptoms, the current definitive diagnosis consists of barium esophagram, upper endoscopy, and high-resolution esophageal manometry. The latter is the gold standard for diagnosis confirmation.[6]

Achalasia treatment aims to improve esophageal emptying by decreasing LES tone using pharmaceutical, endoscopic, or surgical means. However, esophageal Heller Myotomy (HM) remains the treatment of choice and seemingly the safest and most effective in pediatric patients.[7],[9]

The purpose of this study was to provide a report assessing the quality of life (QoL) of children who underwent surgical management of EA during the 15-year experience of our tertiary department. We also review the diagnosis and surgical process with its long-term outcomes.


   Materials and Methods Top


Study design

The study included 13 patients who underwent HM surgery for EA in our Pediatric Surgery department for 15 years, from February 2008 to October 2022.

Patients were included in the study if the diagnosis of achalasia was confirmed, and underwent surgical treatment in our department with at least 3 months follow-up. We excluded any patient with unusable medical records or lost to their 3 months routine check-up. Data on the preoperative as well as the surgical process and postoperative management with follow-up results were provided by a review of medical records in the Pediatric Surgery department archives.

We preoperatively determined the Eckardt Symptom Score (ESS) [Table 1] as a trustworthy method to assess achalasia symptoms for each patient. We also utilized it as a postoperative tool to assess the effectiveness or failure of the intervention. The Eckardt score is used to assess a patient's severity of Achalasia symptoms. The symptoms assessed are weight loss, dysphagia, frequency of retrosternal pain, and frequency of regurgitation.
Table 1: Esophageal Achalasia Severity: Eckardt Score Rafael Melillo & al. (Arq Bras Cir Dig. 2018; 31(2): e1376

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The assessment of long-term QoL was provided through a prospective survey. Parents of the patients were called, and consent to participate was obtained before administering both the pediatric QoL inventory (PedsQL) 4.0 Generic Core Scales and the Gastrointestinal PedsQL (GI-PedsQL) Symptoms Scales and Module [Table 2] and [Table 3].
Table 2: PedsQL Generic core scale parent proxy-report results with historical controls from Marlais & al. (Journal of Paediatrics and Child Health, 2011).[8]

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Table 3: PedsQL Gastrointestinal Symptoms Scales and Module Parent proxy-report results with historical controls from Varni & al. (Qual Life Res (2015) 24:363–378).[10]

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The questionnaire consists of 23 questions on constipation, diarrhea, nausea, and abdominal pain. It is an important instrument for assessing how these symptoms affect a child's QoL by measuring daily activities, emotions, and social interactions, and can be used not only for clinical purposes but also to study the effectiveness of interventions for pediatric gastrointestinal problems.

We used the validated Arabic version of the parent proxy report for parents of children aged 2–4, 5–7, 8–12, and 13–18 for both questionnaires.

Statistical analysis

We recorded the collected data and analyzed using Microsoft Excel 2021 version.

Continuous variables were reported as mean ± standard deviation (SD) and range when appropriate. Categorical data were presented as the number of patients and their relative percentages. Meanwhile, the QoL data were later compared to legacy-matched healthy controls.


   Results Top


Demographics, clinical presentation, and diagnostic tests

Between 2008 and 2023, 13 patients under the age of 16 with confirmed EA were surgically treated in our department with an incidence of 1 case/year with a subtle female predominance (Male: Female ratio of 6:7). The average age at surgery in this study was 6.53 years ranging from 2 months to 15 years with a predominance of infants (n = 6) and children of school age (n = 5). In this study, we observed consanguinity in six patients, seven patients were diagnosed with Allgrove syndrome and one patient presented with an associated Down's syndrome. All patients reported regurgitation of undigested food after every meal with an insidious onset. Ten patients had dysphagia, with different types and gradual emergence (5 paradoxical, 3 for solids only, and one case had a 6-month-old child with dysphagia for liquids). Nine patients had failed to thrive, with a mean average of −1.15 in the height percentile and a mean average of −1.23 in the weight percentile. Meanwhile, seven patients experienced weight loss with losses ranging from 2 to 15 kg and an average of 7.71 kg. Asthenia and retrosternal pain were observed in seven patients, with one patient's retrosternal pain connected to heartburn. Two patients reported respiratory symptoms, and one presented with hematemesis and melena. For each patient, we preoperatively determined the ESS; the median was 6.23 with a range from 3 to 10 and a SD = 2.6 [Figure 1].
Figure 1: A review of each patient's preoperative clinical Eckardt score

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The time interval between the onset of symptoms and the first visit to the doctor, when the diagnosis was confirmed by UGI gastrografin radiography, varied from 2 months to 10 years, with a mean average of 31.5 months (2.62 years).

A timed UGI gastrografin examination [Figure 2] and [Figure 3] was performed in all patients of this study group with tapering at the gastroesophageal junction in all of them and found 13 cases of Grade III EA. A UGI endoscopic exam was performed in 11 of our 13 patients, yielding a resistance at the gastroesophageal puckered junction in nine patients and a dilated esophagus with retained food in 8. A pulmonary X-ray was performed on 5 of our patients, with only one instance displaying an anomaly comprised: convex opacity overlapping the right mediastinum and mediastinum widening [Figure 4].
Figure 2: UGI barium examination showing a dilated esophagus in its abdominal and thoracic parts (a-d showing the evolution over time up to 20 min). UGI: Upper gastrointestinal

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Figure 3: UGI barium examination showing an acute tapering at the gastroesophageal junction with the persistence of barium after 20 min of the swallow in our 8-year-old male patient (a-e showing the evolution over time up to 20 min). UGI: Upper gastrointestinal

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Figure 4: Chest X-ray of our 12-year-old male patient presenting a widening of the mediastinum and double contour at the right mediastinum border

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Management

Out of the 13 patients, one received an initial pneumatic dilation (PD) treatment that failed after two dilatation attempts in a 2 years infant. The surgical treatment of choice for all patients was an open HM coupled with a fundoplication.

At the surgeon's discretion, 12 patients received a Dor surgery (180°–200° anterior partial wrap), while one patient underwent a Thal fundoplication (90° anterior partial wrap).

Within this study group, there were no documented perioperative complications. Postoperative stay varied from 3 to 8 days, with a mean average of 5.46 days. All the patients were placed on a full liquid diet for 15 days to 3 months, with a mean average of 29 days.

Evolution

The average length of follow-up was 7.32 months, ranging from 3 months to 30.7 months. Twelve of our patients had a complete symptom relief with no persistent or recurrent symptoms. Meanwhile, one patient continued to suffer from discrete intermittent dysphagia for solids. Six months postintervention, the persistent dysphagia eventually disappeared, but a mild regurgitation was reported.

The median postoperative Eckardt score was 0.15, with a range from 0 to 2 and a SD = 0.55.

Only the one patient who showed persistence of their symptoms underwent a follow-up UGI gastrografin examination. The paraclinical exam was chosen based on the surgeon's preference.

Assessment of long-term quality of life

All 13 patients were included in QoL evaluation.

The median elapsed time between the most recent clinical checkup and the date of questionnaire induction was 2.9 years (0.3–8.8 years). Meanwhile, the mean age of patients was 8.9 years, with a SD of 4.9.

The most frequently reported symptom complaint was dysphagia for solids with the requirement to drink fluids while eating, which substantially impacted daily life for 7 out of the 13 patients. Vomiting and heartburn were the second-most frequently reported symptom, with a complaint from 4 out of 13 patients. These symptoms concluded to an overall GI-PedsQL score of 76/100 (±14.9), which encloses a score of 61.5 (±11) in the food and drink Limits section, 41.66 (±19.5) in trouble swallowing, 66.8 (±16.1) in heartburn/reflux and a 66.6 (±19.2) in nausea/vomiting section [Table 4].
Table 4: PedsQL Gastrointestinal Symptoms Scales and Module Parent proxy-report survey results

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Meanwhile, the PedsQL score was 72/100 (±17) with 79 (±18) in physical functioning, with patients complaining of low energy and constraint ability to lift heavy objects and accomplish house chores. The emotional functioning score was 67 (±10), with recurrent feelings of being afraid, sad and expressing anger. The Score functioning score was 78 (±18) and the School functioning score was 62 (±20), with patients elaborating a difficulty getting along and keeping up with peers, a difficulty to concentrate in the classroom and missing school due to illness or doctor appointments.


   Discussion Top


According to Swenson,[11] Payne et al.,[12] and Moersch,[13] childhood achalasia accounts for <5% of all cases of achalasia. The most recent epidemiological studies for childhood achalasia present a correlating report of annual incidence estimated at 0.18/100.000 without racial proclivity in the UK[8] and a 0.1/100.000/year incidence in the Netherlands.[14] The rarity of this disease is further pronounced in patients younger than 15 years old with <5% of patients with presenting symptoms.[15] A systemic review published in 2020 of all pediatric EA papers reported a 55% masculine predominance.[16] However, this predominance is inconsistently divided globally with a sex ratio varying from an equal 1 in the Meyer et al.[17] series to 6 in the Nigerian Chirdan et al.[18] experience.

The common symptoms in this study include regurgitation of undigested food, dysphagia, and weight loss. In contrast, less typical symptoms include heartburn, chest pain, cough, and choking, which is in concordance with the literature.[5],[9],[19],[20],[21],[22]

Primary EA can be presented as an isolated entity or be associated with another disease. In fact, Achalasia is the primary presenting feature in approximately 75% of Allgrove syndrome patients. It is usually diagnosed in infancy in contrast to the remaining symptoms of triple A syndrome that most clinically manifest at puberty or adulthood.[23] In addition, the association of EA and Down's syndrome is also described although rarely, with only very few reports in the pediatric population, counting to our knowledge, only one child case reports respectively in the Okawada et al.,[24] Camarasa Piquer et al.,[25] Santha et al.,[26] Stoicescu et al.,[27] and Maselli et al.[28] experiences and two children in the Zárate et al. study.[29] For children with EA, the approach to management involves interventions designed to alleviate symptoms by decreasing pressure within the LES. All types of therapeutic approaches for achalasia are directed at relieving the obstruction, rather than providing a definitive cure for the underlying causes of the disease. Paraclinical classification in achalasia has also made it easier to customize treatment plans. For instance, recent findings indicate that subtype III of achalasia has a greater response to HM in comparison to other forms of treatment; meanwhile, both PD and HM can provide positive outcomes in the other subtypes with a noted higher success rate of HM in Grade I EA.[30] All of this study patients presented with Grade III achalasia; hence why, we opted for surgical management by HM in all our patients. The recurrence of symptoms after surgical treatment by HM, particularly dysphagia, has been documented in studies to range from 0% to 20%,[31],[32] confronted to a higher range from 6% to 23% among adults.[33] Motility disorder of the esophagus can be a factor of persistant dysphagia after surgery. In this study group, the persistence of symptoms was within the range in published studies, with a rate of 1 out of 13 treated patients (7.69%).

The best initial treatment for patients who have failed surgical treatment as the first-line option remains a controversial issue, as there is no consensus on the most effective approach. About 7% of complications from achalasia surgery are related to the anti-reflux procedure and it can be difficult to differentiate the symptoms caused by myotomy failure and those caused by tight fundoplication.[34],[35],[36] There is limited literature on the long-term impact of surgical intervention on QoL of children with EA. In fact, limited to our research, few studies have ventured into the evaluation of QoL of pediatric EA patients, and as of now, very few published works analyze this impact.[6],[14],[17],[20]

The PedsQL is a modular instrument developed at the Children's Hospital and Health Center in San Diego, California, which measures the health-related QoL of children and adolescents aged 2–18.

The PedsQL 4.0 Generic Core Scales are a multidimensional set of scales that measure various aspects of a child's QoL. They are designed to be integrated with the PedsQL disease-specific modules, which are used to assess the HRQOL of children with specific medical conditions, including but not limited to the gastrointestinal symptoms scales and Module. However, it has not yet been validated for use in children with EA. Despite this, we chose to implement it due to its proven usefulness in chronic gastrointestinal illnesses.

In this study, we were able to assess the QoL of 13 patients after a median elapsed time of 2.9 years ensuing the last follow-up.

The overall PedsQL score was 72/100 (±17), with a notably higher established scores in physical and emotional functioning but lower functioning scores in both social settings and school performance compared to data from a control group of EA patients outlined by Marlais et al.[8]

Meanwhile, we compared this study's patients GI-PedsQL score results with a control group of children presenting with gastroesophageal reflux disease among the lack of a published EA one. The outcome showed that our patients performed significantly lower in the dimensions: food and drink limitations, difficulty swallowing, heartburn, and vomiting. However, they maintained a higher score in the remaining sections.

In the Polish experience of Jarzębicka et al.,[19] appraising the long-term QoL of patients 12 years after HM, similar outcomes to our study were emphasized with patients reporting unsatisfaction with their health and a limitation of lifestyle because of EA. In addition, Meyer et al.[15] reported a substantial negative impact of the QoL of 5 out of 8 children and their families after a HM interval of 43 months. Furthermore, Marlais et al.,[11] remarked in their extensive series that children who have achalasia exhibit a marked decrease in their QoL when compared to both healthy children and children with inflammatory bowel illness. The outcome of this study's QoL investigation suggests that although the treatment of EA does relieve chronic symptoms, a decline of QoL is frequent in long-term assessments.


   Conclusion Top


This study provided insight into the significant impact of EA on the QoL of children. Even with optimal postoperative outcomes of symptom relief, the QoL component of patients is still compromised. The management of EA patients should englobe all physical, emotional, and social dimensions: physical by providing patients with management at specialized facilities with proper diagnostic tools and treatment options. We also suggest frequent physiological function examination in children after undergoing achalasia treatment, particularly for high-risk clinical subtypes and standardized lifelong regular follow-up regimes are necessary due to the high rate of symptom relapse during adulthood and the risk of late severe complications.

Emotional and social dimensions raise the importance of psychological care in the management of these children. The psychological managment is imperative to ensure a good postoperative outcome. Finally, further indulgence in the long-term QoL of patients is imperative to factually evaluate EA management and enrich any future research into this disease.

Study limitations

The study presented some limitations that weakened the power of the findings. The retrospective design of the study limited its ability to assess the benefits and disadvantages of the treatment, and the small sample size prevented conclusive statements. The absence of a comparison group of patients who underwent other surgical techniques further limited the study. The use of subjective assessment tools such as the Eckardt score and the absence of objective postoperative radiological follow-up are added to the study limitations. The incapability to demonstrate manometry outcomes based on the Chicago classification and the loss of patients to follow-up also created biases in the study.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
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Khajanchee YS, Kanneganti S, Leatherwood AE, Hansen PD, Swanström LL. Laparoscopic Heller myotomy with toupet fundoplication: Outcomes predictors in 121 consecutive patients. Arch Surg 2005;140:827-33.  Back to cited text no. 36
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]
 
 
    Tables

  [Table 1], [Table 2], [Table 3], [Table 4]



 

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    Abstract
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    Materials and Me...
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  2005 - Journal of Indian Association of Pediatric Surgeons | Published by Wolters Kluwer - Medknow 

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