Developmental Risk Factors of Young Children with Inherited Metabolic Disorders During the COVID-19 Pandemic

Year 2022, Volume: 16 Issue: 5, 415 - 420, 20.09.2022

Ezgi Özalp Akın , Fatma Tuba Eminoğlu

https://doi.org/10.12956/tchd.1098845

Abstract

Objective: Coronavirus disease 2019 (COVID-19) pandemic has led to emergence of new developmental risk factors. Developmental risk factors for young children with inherited metabolic disorders have not been studied based on a comprehensive framework. We aimed to determine the developmental risk factors of young children with inherited metabolic disorders during COVID-19 pandemic based on bioecological theory.

Material and Methods: In a cross-sectional design, children aged 0-42 months that who had appointments at Ankara University School of Medicine Department of Pediatrics (AUDP) Pediatric Metabolism Division with the diagnoses of inherited metabolic disorders were recruited between October 1st, 2020 to January 1st, 2021. Developmental risk factors were assessed with a semi-structured interview based on questions of the Expanded Guide for Monitoring Child Development revised for the pandemic at AUDP Developmental Pediatrics Division.

Results: The sample consisted of 95 children with inherited metabolic disorders (median age:25, IQR: 17-35 months, 57.9% boys). Most children (54 children, 56.8%) had amino-acid metabolism disorders. Child-related developmental risk factors included new behavioral problems in most of the sample (53 children, 55.8%) and increased screen time in 26 children (27.3%). As family-related developmental risk factors, 40 children (42.1%) were living with a family member diagnosed with major depression. In environment-related developmental risk factors; 41 families (43.2%) experienced a decrease in their household income and 21 (22.1%) loss of job during the pandemic, 17 (17.9%) delay in health care follow up visits, 8 of 28 (28.6%) discontinuity of intervention and rehabilitation services. Participation in life was severely limited in 42 (44.2%) children with inherited metabolic disorders.

Conclusion: Apart from life threatening medical problems, children and their families in Turkey and potentially in other low- and middle-income countries face multiple developmental risk factors. Preventable or reducible risk factors should be addressed to support these children’s development in this pandemic and beyond.

Keywords

child development, COVID-19, Family, Inborn Errors of Metabolism, Risk Factors

Erken Çocukluk Döneminde Kalıtsal Metabolik Hastalığı Olan Çocukların COVİD-19 Pandemisinde Gelişimsel Risk Etmenleri

Abstract

Amaç: Koronavirus hastalığı 2019 (COVİD-19) pandemisi, yeni gelişimsel risk faktörlerinin ortaya çıkmasına neden olmuştur. Ancak kalıtsal metabolik hastalıkları olan küçük çocuklar için gelişimsel risk faktörleri, kapsamlı bir çerçeveye dayalı olarak çalışılmamıştır. Bu araştırmanın amacı COVİD-19 pandemisinde kalıtsal metabolik hastalığı olan küçük çocukların biyoekolojik kuram çerçevesinde gelişimsel risk etmenlerini belirlemektir.

Gereç ve Yöntemler: Kesitsel desendeki araştırmada, Ankara Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı (AUÇH) Çocuk Metabolizma Bilim Dalında kalıtsal metabolik hastalık tanısı ile randevusu olan 0-42 aylık  çocuklar, 1 Ekim 2020-1 Ocak 2021 tarihleri arasında çalışmaya alındı ve AUÇH Gelişimsel Pediatri Bilim Dalında Genişletilmiş Gelişimi İzlenme ve Destekleme Rehberi’nin sorularına dayalı olarak yarı yapılandırılmış bir görüşme ile gelişimsel risk etmenleri değerlendirildi.

Bulgular: Örneklem, kalıtsal metabolik bozukluğu olan 95 çocuktan oluşmaktadır (ortanca yaş: 25, ÇAA: 17-35 ay, %57.9 erkek). Çocukların çoğunda (54 çocuk, %56.8) aminoasit metabolizma bozukluğu tanısı bulunmaktaydı. Çocukla ilgili gelişimsel risk etmenleri alanında örneklemin çoğunda (53 çocuk, %55.8) yeni ortaya çıkan davranış sorunları ve 26 çocukta (%27.3) artmış ekran süresi saptandı. Aile ile ilgili gelişimsel risk etmenleri olarak, 40 çocuğun (%42.1) evinde majör depresyon tanısı almış bir birey bulunmaktaydı. Çevre ile ilgili gelişimsel risk etmenleri alanında 41 aile (%43.2) pandemide hane gelirinde azalma, 21 aile (%22.1) iş kaybı, 17 aile (%17.9) sağlık izlemlerinde gecikme, girişim ve rehabilitasyon hizmetleri alan 28 ailenin 8’i (%28.6) kesinti bildirdi, 42 (%44.2) çocuğun yaşama katılımı ciddi şekilde sınırlıydı.

Sonuç: Türkiye’de ve büyük olasılıkla diğer düşük ve orta gelirli ülkelerde kalıtsal metabolik hastalığı olan çocuklar yaşamı tehdit eden tıbbi sorunların yanı sıra birden fazla çevresel gelişimsel risk etmeni ile karşı karşıyadır. Bu çocukların pandemi ve diğer olası kriz dönemlerinde gelişimlerini desteklemek için önlenebilir risk etmenleri önlenmeli ve mümkün olduğunca risk etmenleri azaltılmalıdır.

Keywords

Gelişim, COVİD-19, Aile, Kalıtsal Metabolik Hastalıklar, Risk Etmenleri

References

• World Health Organization. Coronavirus disease 2019 (COVID‑19) Situation Report‑51. 2020; 11/02/2021.
• Lampe C, Dionisi-Vici C, Bellettato CM, Paneghetti L, van Lingen C, Bond S, et al. The impact of COVID-19 on rare metabolic patients and healthcare providers: results from two MetabERN surveys. Orphanet J Rare Dis 2020;15:341.
• Walker SP, Wachs TD, Gardner JM, Lozoff B, Wasserman GA, Pollitt E, et al. Child development: risk factors for adverse outcomes in developing countries. Lancet 2007;369:145- 57.
• Ramsay J, Morton J, Norris M, Kanungo S. Organic acid disorders. Ann Transl Med 2018;6:472.
• Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H. Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. Biochem Genet 2018;56:7-21.
• Horvath GA, Blau N, Ferreira CR. Clinical and biochemical footprints of inherited metabolic disease. V. Cerebral palsy phenotypes. Mol Genet Metab 2021;S1096-7192(21)00071-8.
• Ghaziuddin M, Al-Owain M. Autism spectrum disorders and inborn errors of metabolism: an update. Pediatr Neurol 2013;49:232-6.
• Elmonem MA, Belanger-Quintana A, Bordugo A, Boruah R, Cortès-Saladelafont E, Endrakanti M, et al. The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective. Mol Genet Metab 2020;131:285-8.
• Grantham-McGregor S, Cheung YB, Cueto S, Glewwe P, Richter L, Strupp B, et al. Developmental potential in the first 5 years for children in developing countries. Lancet 2007;369:60-70.
• Akin EÖ, Pekcici BB, Eminoglu FT. International classification of functioning, disability and health framework (ICF) based adaptive functioning outcomes of children with organic acidemias from a middle-income country. Brain Dev 2021;43:389-95.
• Chung CCY, Ng YNC, Jain R, Chung BHY. A thematic study: impact of COVID-19 pandemic on rare disease organizations and patients across ten jurisdictions in the Asia Pacific region. Orphanet J Rare Dis 2021;16:119.
• Bronfenbrenner U. Ecological models of human development. 2nd ed. New York: Freeman 1993.
• Özalp Akin E, Mustafayev R, Pekcici EBB, Ertem I. Applicability of a Tool for Comprehensive Pediatric Assessments: The Expanded Guide for Monitoring Child Development. J Pediatr Congenit Dis 2021;7:107.
• Bingoler Pekcici EB, Özalp Akin E, Ayranci Sucakli I, Kara Elitok G, Onat FN, Kivilcime M, et al. Addressing early childhood development and developmental difficulties in Turkey: a training programme for developmental pediatrics units. Arch Argent Pediatr 2020;118:e384-91.
• Parker S, Greer S, Zuckerman B. Double jeopardy: the impact of poverty on early child development. Pediatr Clin North Am 1988;35:1227-40.
• Liu S, Lombardi J, Fisher PA. The COVID-19 Pandemic Impact on Households of Young Children With Special Healthcare Needs. J Pediatr Psychol 2022;47:158-70.
• Oge Enver E, Hopurcuoglu D, Ahmadzada S, Zubarioglu T, Aktuglu Zeybek AC, Kiykim E. Challenges of following patients with inherited metabolic diseases during the COVID-19 outbreak. A cross-sectional online survey study. J Pediatr Endocrinol Metab 2020;34:103-7.
• Siddiq S, Wilson BJ, Graham ID, Lamoureux M, Khangura SD, Tingley K, et al. Experiences of caregivers of children with inherited metabolic diseases: a qualitative study. Orphanet J Rare Dis 2016;11:168.
• Engle PL, Fernald LC, Alderman H, Behrman J, O’Gara C, Yousafzai A, et al. Strategies for reducing inequalities and improving developmental outcomes for young children in low-income and middle-income countries. Lancet 2011;378:1339-53.
• Black MM, Walker SP, Fernald LCH, Andersen CT, DiGirolamo AM, Lu C, et al. Early childhood development coming of age: science through the life course. Lancet 2017;389:77-90.
• Ertem IO, Krishnamurthy V, Mulaudzi MC, Sguassero Y, Bilik B, Srinivasan R, et al. Validation of the International Guide for Monitoring Child Development demonstrates good sensitivity and specificity in four diverse countries. Acta Paediatr 2019;108:1074-86.
• Raut A, Mustafayev R, Srinivasan R, Chary A, Ertem I, Grazioso M, et al. Hybrid type 1 effectiveness/implementation trial of the international Guide for Monitoring Child Development: protocol for a cluster-randomised controlled trial. BMJ Paediatr Open 2021;5:e001254.
• Ozalp Akin E, Akbas A, Atasoy SC, Kanatli MC, Ince Acici S, Mustafayev R, et al. Applicability of the Guide for Monitoring Child Development as a Telehealth Delivered Intervention During the Pandemic. Front Pediatr 2022;10:884779.