CONGENITAL MYOTONIC DYSTROPHY IN THE NEONATAL PERIOD – A CASE REPORT

Česká verzia

Authors: Červenková Barbora ^1,2
Authors place of work: Ústav speciálněpedagogických studií, Pedagogická fakulta Univerzity Palackého v Olomouci ¹; Fakultní nemocnice Brno, Neonatologické oddělení ²
Published in the journal: Listy klinické logopedie 2023; 7(1): 19-26
Category: Main topic
doi: https://doi.org/10.36833/lkl.2023.008

Summary

Congenital myotonic dystrophy is the most severe form of myotonic dystrophy type 1 (DM1), an autosomal dominant multisystem disorder. Myotonic dystrophies are primarily degenerative, genetically determined and progressive disorders of skeletal and smooth muscles. Myotonic dystrophy represents multi-organ diseases, and causes diseases of the eyes, heart, endocrine and central (but sometimes peripheral) nervous system. Speech and language therapy for a CDM child is recommended from the moment of their birth, because there is a higher risk of dysphagia. This paper presents the role of a Clinical Speech Therapist in the diagnosis and therapy of a patient during his postpartum hospitalisation in the neonatal unit of intermittent care.

Keywords:

dysphagia – speech and language therapy – congenital myotonic dystrophy

Zdroje

AMAIZU, N., SHULMAN, R. J., SCHANLER, R. J., LAU, C., 2008. Acta Pædiatrica. 97, s. 61-67 DOI: 10.1111/j.1651-2227.2007.00548.x.
AMBLER, Z., 2004. Myotonická dystrofie. Neurologie pro praxi. 5(3), s. 141-144. [cit. 2. 2. 2023] Dostupné z: https://www.neurologiepropraxi.cz/pdfs/neu/2004/03/04.pdf
ALS, H., 1986. A Synactive model of neonatal behavioral organization: framework for the assessment and support of the neurobehavioral development of the premature infant and his parents in the environment of the Neonatal Intensive Care Unit. Physical & Occupational Therapy In Pediatrics. 6(3-4), s. 3-53. DOI: 10.1080/J006v06n03_02.
AZUMA, D. a MARON, J. L., 2020. Individualizing oral feeding assessment and therapies in the newborn. Research and Reports in Neonatology. 10, s. 23-30. DOI: 10.2147/RRN.S223472. LISTY KLINICKÉ LOGOPEDIE 1/2023 24 HLAVNÍ TÉMA / MAIN TOPIC
BERGGREN, K. N. et al., 2018. Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy. Muscle & nerve. 58(3), s. 413-417. DOI: 10.1002/mus.26176.
CAMERON, E. C., MAEHLE, V., REID, J., 2005. The effects of an early physical therapy intervention for very preterm, very low birth weight infants: a randomized controlled clinical trial. Pediatr Phys Ther. 17(2), s. 107-119. DOI: 10.1097/01.pep.0000163073.50852.58.
CAMPBELL, C. et al., 2004. Congenital myotonic dystrophy: assisted ventilation duration and outcome. Pediatrics. 113(4), s. 811-816. DOI: 10.1542/peds.113.4.811.
CLARK, L., KENNEDY, G., PRING, T., HIRD, M., 2007. Improving bottle feeding in preterm infants: Investigating the elevated sidelying position. Infant. 3(4), s. 154-158. Dostupné z: https://www.infantjournal.co.uk/journal_article.html?RecordNumber=5659
da COSTA, S. P., van den ENGEL-HOEK, L. and BOS, A. F., 2008. Sucking and swallowing in infants and diagnostic tools. Journal of Perinatology. 28, s. 247-257. DOI: 10.1038/sj.jp.7211924.
DAWSON, J. A., MYERS, L. R., MOORHEAD, A., JACOBS, S. E., ONG, K., SALO, F., DAVIS, P. G., 2013. A randomised trial of two techniques for bottle feeding preterm infants. Journal of Pediatrics and Child Health. 49(6), s. 462-466. DOI: 10.1111/jpc.12208.
EKSTRÖM, A. B. et al., 2009. Cognition and adaptive skills in myotonic dystrophy type 1: A study of 55 individuals with congenital and childhood forms. Developmental medicine and child neurology. 51(12), s. 982-990. DOI: 10.1111/j.1469-8749.2009.03300.x.
EKSTRÖM, A. B. et al., 2008. Autism spectrum conditons in myotonic dystrophy type 1: A study on 57 individuals with congenital and childhood forms. American journal of medical genetics. Part B, Neuropsychiatric genetics: the official publication of the International Society of Psychiatric Genetics. 147B(6), s. 918-926. DOI: 10.1002/ajmg.b.30698.
HO, G. et al. 2015. Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions. World journal of clinical pediatrics. 4(4), s. 66-80. DOI: 10.5409/wjcp.v4.i4.66.
JACKMAN, K. T., 2013. Go with the flow: Choosing a feeding systém for infants in the neonatal intensive care unit and beyond based on flow performance. Newborn & Infant Nursing Reviews. 13(1), s. 31-34. DOI: 10.1053/j.nainr.2012.12.003.
JOHNSON, N. E. et al., 2016. Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study. Neurology. 87(2), s. 160-167. DOI: 10.1212/WNL.0000000000002845.
JOHNSON, N. E. et al., 2019. Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1. Neurology. Clinical practice. 9(5), s. 443-454. DOI: 10.1212/CPJ.0000000000000646.
KORNER, A., BROWN, J., THOM, V. et al., 2000. The neurobehavioral asses sment of the preterm infant. USA: San Antonio: Child Development Media.
KORNER, A. F., CONSTANTINOU, J. C., 2001. The neurobehavioral assessment of the preterm infant: Reliability and developmental and clinical validity. In: SINGER, L. T., ZESKIND, P. S. (Eds.): Biobehavioral assessment of the infant. S. 381-397. New York: The Guilford Press.
KRAUS, J., 2002. Myotonická dystrofie (Kurschmann-Batten-Steinert). Neurologie pro praxi. 2002, č. 4, s. 183-186.
KHURANA, S., KANE, A. E., BROWN, S. E., TARVER, T., DUSING, S. C., 2020. Effect of neonatal therapy on the motor, cognitive, and behavioral development of infants born preterm: a systematic review. Dev Med Child Neurol. 62, s. 684-692. DOI: 10.1111/dmcn.14485.
LAU, C., KUSNIERCZYK, I. (2001). Quantitative evaluation of infant's nonnutritive and nutritive sucking. Dysphagia. 16(1), s. 58-67. DOI: 10.1007/s004550000043.
LAU, C., 2015. Development of Suck and Swallow Mechanisms in Infants. Ann Nutr Metab. 66(Suppl 5), s. 7-14. DOI: 10.1159/000381361.
LEE, E. J., 2017. Effect of Neuro-Development Treatment on motor development in preterm infants. J Phys Ther Sci. 29, s. 1095-1097.
LITMAN, R. S., WAKE, N., CHAN, L. M., MVDONOUGH, J. M., SIN, S., MAHBOUBI, S., ARENS, R., 2005. Effects of lateral positioning on upper airway size and morphology in sedated children. Anesthesiology. 103(3), s. 484-488. DOI: 10.1097/00000542-200509000-00009. Dostupné z: https://anesthesiology.pubs.asahq.org/article.aspx?articleid=2026337
LUDWIG, S. M., WAITZMAN, K. A., 2007. Changing feeding documentation to reflect infant-driven feeding practice. Newborn and Infant Nursing Reviews. 7(3), 155-160. DOI: 10.1053/j.nainr.2007.06.007.
MAZANEC, R., MUŠOVÁ, Z., 2012. Myotonické dystrofie. Neurologie pro praxi. 13, s. 183-187. [cit. 2. 2. 2023] Dostupné z: https://www.neurologiepropraxi.cz/artkey/neu-201204-0003_Myotonicke_dystrofie.php
MŮČKOVÁ, A., JANURA, M.,HÁLEK, J., 2017. Nastupující tonus u předčasně narozených dětí jako projev vývoje nervové soustavy a možnosti jeho hodnocení. Cesk Slov Neurol N, 80/113(2), 146-149. DOI: 10.14735/amcsnn2017146
PADOS, B. F. et al., 2019. Know the Flow: Milk Flow Rates From Bottle Nipples Used in the Hospital and After Discharge. Advances in Neonatal Care. DOI: 10.1097/ANC.0000000000000538.
PARK, J., THOYRE, S., KNAFL, G. J., HODGES, E. A., NIX, W. B., 2014. Efficacy of semielevated side-lying positioning during bottle-feeding of very preterm infants. Journal of Perinatal & Neonatal Nursing. 28(1), s. 69-79. DOI: 10.1097/JPN.0000000000000004. LISTY KLINICKÉ LOGOPEDIE 1/2023 25 HLAVNÍ TÉMA / MAIN TOPIC
PRECHTL, H. F. R., 2001. General movement assessment as a method of developmental neurology: new paradigms and their consequences. The 1999 Ronnie MacKeith Lecture. Developmental medicine and child neurology. 43(12), s. 836-842. DOI: 0.1017/ s0012162201001529.
ROSS, E. S., PHILBIN, M. K., 2011. SOFFI: An evidence-based method for quality bottle-feedings with preterm, ill, and fragile infants. Journal of perinatal and neonatal nursing. 25(4), s. 349-57.