Listy klinické logopedie 2023, 7(1):19-26 | DOI: 10.36833/lkl.2023.0081114

Congenital Myotonic Dystrophy in the Neonatal Period -

Barbora Červenková
Ústav speciálněpedagogických studií, Pedagogická fakulta Univerzity Palackého v Olomouci, Žižkovo nám. 5, 779 00 Olomouc, Česká republika.
Fakultní nemocnice Brno, Neonatologické oddělení, Obilní trh 11, Brno 602 00, Česká republika

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: kongenitální myotonická dystrofie, klinicko-logopedická péče, dysfagie

Received: January 31, 2023; Revised: April 26, 2023; Accepted: April 27, 2023; Published: June 14, 2023  Show citation

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Červenková B. Congenital Myotonic Dystrophy in the Neonatal Period -. Listy klinické logopedie. 2023;7(1):19-26. doi: 10.36833/lkl.2023.008.
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    References

    1. 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. Go to original source... Go to PubMed...
    2. 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
    3. 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. Go to original source...
    4. 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. Go to original source...
    5. 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. Go to original source... Go to PubMed...
    6. 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. Go to original source... Go to PubMed...
    7. 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. Go to original source... Go to PubMed...
    8. 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
    9. 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. Go to original source... Go to PubMed...
    10. 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. Go to original source... Go to PubMed...
    11. 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. Go to original source... Go to PubMed...
    12. 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. Go to original source... Go to PubMed...
    13. 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. Go to original source... Go to PubMed...
    14. 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. Go to original source...
    15. 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. Go to original source... Go to PubMed...
    16. 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. Go to original source... Go to PubMed...
    17. KORNER, A., BROWN, J., THOM, V. et al., 2000. The neurobehavioral asses sment of the preterm infant. USA: San Antonio: Child Development Media.
    18. 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.
    19. KRAUS, J., 2002. Myotonická dystrofie (Kurschmann-Batten-Steinert). Neurologie pro praxi. 2002, č. 4, s. 183-186.
    20. 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. Go to original source... Go to PubMed...
    21. LAU, C., KUSNIERCZYK, I. (2001). Quantitative evaluation of infant's nonnutritive and nutritive sucking. Dysphagia. 16(1), s. 58-67. DOI: 10.1007/s004550000043. Go to original source... Go to PubMed...
    22. LAU, C., 2015. Development of Suck and Swallow Mechanisms in Infants. Ann Nutr Metab. 66(Suppl 5), s. 7-14. DOI: 10.1159/000381361. Go to original source... Go to PubMed...
    23. LEE, E. J., 2017. Effect of Neuro-Development Treatment on motor development in preterm infants. J Phys Ther Sci. 29, s. 1095-1097. Go to original source... Go to PubMed...
    24. 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 Go to original source... Go to PubMed...
    25. 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. Go to original source...
    26. 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
    27. 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 Go to original source...
    28. 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. Go to original source... Go to PubMed...
    29. 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. Go to original source... Go to PubMed...
    30. 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. Go to original source... Go to PubMed...
    31. 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. Go to original source... Go to PubMed...

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