Feeding and Swallowing Disorders in Pediatric Neuromuscular Diseases: An Overview

Lenie van den Engel-Hoek, Imelda J M de Groot, Bert J M de Swart, Corrie E Erasmus, Lenie van den Engel-Hoek, Imelda J M de Groot, Bert J M de Swart, Corrie E Erasmus

Abstract

Feeding and swallowing problems in infants and children have a great impact on health and wellbeing. The aim of this study was to provide an overview of recognized feeding and swallowing problems in different groups of children with neuromuscular diseases, based on relevant literature and expert opinion, and to propose recommendations for the assessment and treatment of these problems. Almost all pediatric neuromuscular diseases are accompanied by feeding and swallowing problems during the different phases of deglutition, problems that give rise to a wide variety of signs and symptoms, which emphasizes the importance of a comprehensive feeding and swallowing assessment by a speech and language therapist.

Keywords: Pediatric neuromuscular diseases; dysphagia; feeding problems; swallowing phases.

References

    1. Arvedson JC, Clark H, Lazarus C, Schooling T, Frymark T. Evidence-based systematic review: Effects of oral motor interventions on feeding and swallowing in preterm infants. Am J Speech Lang Pathol. 2010;19(4):321–340. doi: 10.1044/1058-0360.
    1. Tilton AH, Miller MD, Khoshoo V. Nutrition and swallowing in pediatric neuromuscular patients. Semin Pediatr Neurol. 1998;5(2):106–115.
    1. Arvedson JC. Feeding children with cerebral palsy and swallowing difficulties. Eur J Clin Nutr. 2013;67(Suppl 2):S9–S12. doi: 10.1038/ejcn.2013.224.
    1. van den Engel-Hoek L, Erasmus CE, van Hulst KC, Arvedson JC, de Groot IJ, de Swart BJ. Children with central and peripheral neurologic disorders have distinguishable patterns of dysphagia on videofluoroscopic swallow study. J Child Neurol. 2014;29(5):646–653. doi: 10.1177/0883073813501871.
    1. van den Engel-Hoek L, Erasmus CE, van Bruggen HW, de Swart BJ, Sie LT, Steenks MH, et al. Dysphagia in spinal muscular atrophy type II: More than a bulbar problem? Neurology. 2009;73(21):1787–1791.
    1. Dubowitz V. London: W.B. Saunders Company LTD; 2000. Muscle disorders in Childhood.
    1. Yang ML, Finkel RS. Overview of paediatric neuromuscular disorders and related pulmonary issues: Diagnostic and therapeutic considerations. Paediatr Respir Rev. 2010;11(1):9–17. doi: 10.1016/j.prrv.2009.10.009.
    1. Delaney AL, Arvedson JC. Development of swallowing and feeding: Prenatal through first year of life. Dev Disabil Res Rev. 2008;14(2):105–117.
    1. Arvedson JC. Assessment of pediatric dysphagia and feeding disorders: Clinical and instrumental approaches. Dev Disabil Res Rev. 2008;14(2):118–127.
    1. Kostanjsek N. Use of The International Classification of Functioning, Disability and Health (ICF) as a conceptual framework and common language for disability statistics and health information systems. BMC Public Health. 2011;11(Suppl 4):S3. doi: 10.1186/1471-2458-11-S4-S3.
    1. Logemann JA. Dysphagia: Evaluation and treatment. Folia Phoniatr Logo. 1995;47(3):140–164.
    1. Weir K, McMahon S, Barry L, Masters IB, Chang AB. Clinical signs and symptoms of oropharyngeal aspiration and dysphagia in children. Eur Respir J. 2009;33(3):604–611.
    1. Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2120. pp. 371–333.
    1. Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027–1049.
    1. Davis RH, Godshall BJ, Seffrood E, Marcus M, Lasalle BA, Wong B, et al. Nutritional Practices at a Glance: Spinal Muscular Atrophy Type I Nutrition Survey Findings. J Child Neurol. 2013;11(29):1467–1472. doi: 10.1177/0883073813503988.
    1. Willig TN, Paulus J, Lacau Saint GJ, Beon C, Navarro J. Swallowing problems in neuromuscular disorders. Arch Phys Med Rehabil. 1994;75(11):1175–1181.
    1. Granger MW, Buschang PH, Throckmorton GS, Iannaccone ST. Masticatory muscle function in patients with spinal muscular atrophy. Am.J.Orthod.Dentofacial Orthop. 1999;115(6):697–702.
    1. van Bruggen HW, van den Engel-Hoek L, van der Pol WL, de Wijer A, de Groot IJ, Steenks MH. Impaired mandibular function in spinal muscular atrophy type II: Need for early recognition. J Child Neurol. 2011;26(11):1392–1396. doi: 10.1177/0883073811407696.
    1. Markowitz JA, Singh P, Darras BT. Spinal muscular atrophy: A clinical and research update. Pediatr Neurol. 2012;46(1):1–12. doi: 10.1016/j.pediatrneurol.2011.09.001.
    1. Messina S, Pane M, Rose PD, Vasta I, Sorleti D, Aloysius A, et al. Feeding problems and malnutrition in spinal muscular atrophy type II. Neuromuscul Disord. 2008;18(5):389–393.
    1. de Groot IJM, de Witte LP. Physical complaints in ageing persons with spinal muscular atrophy. J Rehabil Med. 2005;37(4):258–262.
    1. Chen YS, Shih HH, Chen TH, Kuo CH, Jong YJ. Prevalence and risk factors for feeding and swallowing difficulties in spinal muscular atrophy types II and III. J Pediatr. 2012;160(3):447 e1–451 e1. doi: 10.1016/j.jpeds.2011.08.016.
    1. Wilmshurst JM, Ouvrier R. Hereditary peripheral neuropathies of childhood: An overview for clinicians. Neuromuscul Disord. 2011;21(11):763–775. doi: 10.1016/j.nmd.2011.05.013.
    1. Chapon F, Latour P, Diraison P, Schaeffer S, Vandenberghe A. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J Neurol Neurosurg Psychiatry. 1999;66(6):779–782.
    1. Asthana AK, Lubel JS, Kohn GP. Novel association of achalasia with hereditary sensory and motor neuropathy with sensorineural deafness. Dis Esophagus. 2013.
    1. Axelrod FB. Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs. Clin Auton Res. 2002;12 Suppl:I2–I14.
    1. Axelrod FB, Hilz MJ. Inherited autonomic neuropathies. Semin Neurol. 2003;23(4):381–390. doi: 10.1055/s-2004-817722.
    1. Liew WK, Kang PB. Update on juvenile myasthenia gravis. Curr Opin Pediatr. 2013;25(6):694–700. doi: 10.1097/MOP.0b013e328365ad16.
    1. VanderPluym J, Vajsar J, Jacob FD, Mah JK, Grenier D, Kolski H. Clinical characteristics of pediatric myasthenia: A surveillance study. Pediatrics. 2013;132(4):e939–e944. doi: 10.1542/peds.2013-0814.
    1. Palace J, Beeson D. The congenital myasthenic syndromes. J Neuroimmunol. 2008;201-202:2–5. doi: 10.1016/j.jneuroim.2008.05.030.
    1. Yeung WL, Lam CW, Fung LW, Hon KL, Ng PC. Severe congenital myasthenia gravis of the presynaptic type with choline acetyltransferase mutation in a Chinese infant with respiratory failure. Neonatology. 2009;95(2):183–186. doi: 10.1159/000155612.
    1. Engel AG, Ohno K, Sine SM. Congenital myasthenic syndromes: Progress over the past decade. Muscle Nerve. 2003;27(1):4–25. doi: 10.1002/mus.10269.
    1. Papazian O. Transient neonatal myasthenia gravis. J Child Neurol. 1992;7(2):135–141.
    1. Keesey JC. Clinical evaluation and management of myasthenia gravis. Muscle Nerve. 2004;29(4):484–505. doi: 10.1002/mus.20030.
    1. T.Vaqar LZ, Edelman FS, Stafstrom CE. Juvenile Myasthenia gravis: Freqent presentation with Bulbar Symptoms. Journal of Pediatric Sciences. 2012;4(3):e142.
    1. Leung DG, Wagner KR. Therapeutic advances in muscular dystrophy. Ann Neurol. 2013;74(3):404–411. doi: 10.1002/ana.23989.
    1. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part Diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9(1):77–93.
    1. van Bruggen HW, Van Den Engel-Hoek L, Steenks MH, Bronkhorst EM, Creugers NH, de Groot IJ, et al. Reduced mandibular range of motion in Duchenne Muscular Dystrophy: Predictive factors. J Oral Rehabil. 2015;42(6):430–438. doi: 10.1111/joor.12274.
    1. Archer SK, Garrod R, Hart N, Miller S. Dysphagia in Duchenne muscular dystrophy assessed by validated questionnaire. Int J Lang Commun Disord. 2013;48(2):240–246. doi: 10.1111/j.1460-6984.2012.00197.x.
    1. Botteron S, Verdebout CM, Jeannet PY, Kiliaridis S. Orofacial dysfunction in Duchenne muscular dystrophy. Arch Oral Biol. 2009;54(1):26–31. doi: 10.1016/j.archoralbio.2008.07.012.
    1. van den Engel-Hoek L, Erasmus CE, Hendriks JC, Geurts AC, Klein WM, Pillen S, et al. Oral muscles are progressively affected in Duchenne muscular dystrophy: Implications for dysphagia treatment. J Neurol. 2013;260(5):1295–1303. doi: 10.1007/s00415-012-6793-y.
    1. Aloysius A, Born P, Kinali M, Davis T, Pane M, Mercuri E. Swallowing difficulties in Duchenne muscular dystrophy: Indications for feeding assessment and outcome of videofluroscopic swallow studies. Eur J Paediatr Neurol. 2008;12(3):239–245.
    1. Jaffe KM, McDonald CM, Ingman E, Haas J. Symptoms of upper gastrointestinal dysfunction in Duchenne muscular dystrophy: Case-control study. Arch Phys Med Rehabil. 1990;71(10):742–744.
    1. Turner C, Hilton-Jones D. The myotonic dystrophies: Diagnosis and management. J Neurol Neurosurg Psychiatry. 2010;81(4):358–367.
    1. Rutherford MA, Heckmatt JZ, Dubowitz V. Congenital myotonic dystrophy: Respiratory function at birth determines survival. Arch Dis Child. 1989;64(2):191–195.
    1. Hageman AT, Gabreels FJ, Liem KD, Renkawek K, Boon JM. Congenital myotonic dystrophy; a report on thirteen cases and a review of the literature. J Neurol Sci. 1993;115(1):95–101.
    1. Sjogreen L, Engvall M, Ekstrom AB, Lohmander A, Kiliaridis S, Tulinius M. Orofacial dysfunction in children and adolescents with myotonic dystrophy. Dev Med Child Neurol. 2007;49(1):18–22.
    1. Echenne B, Rideau A, Roubertie A, Sebire G, Rivier F, Lemieux B. Myotonic dystrophy type I in childhood Long-term evolution in patients surviving the neonatal period. Eur J Paediatr Neurol. 2008;12(3):210–223. doi: 10.1016/j.ejpn.2007.07.014.
    1. Campbell C. Congenital Myotonic Dystrophy. J Neur Neurophys. 2012. p. 001.
    1. North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, et al. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord. 2014;24(2):97–116. doi: 10.1016/j.nmd.2013.11.003.
    1. North KN, Laing NG, Wallgren-Pettersson C. Nemaline myopathy: Current concepts. The ENMC International Consortium and Nemaline Myopathy. J Med Genet. 1997;34(9):705–713.
    1. Bagnall AK, Al-Muhaizea MA, Manzur AY. Feeding and speech difficulties in typical congenital Nemaline myopathy. Advances in Speech-Language Pathology. 2006. pp. 7–16.
    1. van den Engel-Hoek L, Erasmus CE, de Swart BJ, Sie LT, de Groot IJ. Neonatal swallowing assessment and practical recommendations for oral feeding in a girl with a severe congenital myopathy. J Child Neurol. 2011;26(8):1041–1044. doi: 10.1177/0883073811402071.
    1. Ryan MM, Schnell C, Strickland CD, Shield LK, Morgan G, Iannaccone ST, et al. Nemaline myopathy: A clinical study of 143 cases. Ann Neurol. 2001;50(3):312–320.
    1. Jungbluth H, Sewry C, Brown SC, Manzur AY, Mercuri E, Bushby K, et al. Minicore myopathy in children: A clinical and histopathological study of 19 cases. Neuromuscul Disord. 2000;10(4-5):264–273.
    1. Jungbluth H, Sewry CA, Muntoni F. Core myopathies. Semin Pediatr Neurol. 2011;18(4):239–249. doi: 10.1016/j.spen.2011.10.005.
    1. Maggi L, Scoto M, Cirak S, Robb SA, Klein A, Lillis S, et al. Congenital myopathies–clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. Neuromuscul Disord. 2013;23(3):195–205. doi: 10.1016/j.nmd.2013.01.004.
    1. Wang CH, Dowling JJ, North K, Schroth MK, Sejersen T, Shapiro F, et al. Consensus statement on standard of care for congenital myopathies. J Child Neurol. 2012;27(3):363–382. doi: 10.1177/0883073812436605.
    1. Fan HC, Lee CM, Harn HJ, Cheng SN, Yuh YS. X-linked centronuclear myopathy. Am J Perinatol. 2003;20(4):173–179. doi: 10.1055/s-2003-40603.
    1. Clarke NF. Congenital fiber-type disproportion. Semin Pediatr Neurol. 2011;18(4):264–271. doi: 10.1016/j.spen.2011.10.008.
    1. Clarke NF, North KN. Congenital fiber type disproportion–30 years on. J Neuropathol Exp Neurol. 2003;62(10):977–989.
    1. Tobon A. Metabolic myopathies. Continuum (Minneap Minn) 2013;19(6 Muscle Disease):1571–1597. doi: 10.1212/01.CON.0000440660.41675.06.
    1. van Adel BA, Tarnopolsky MA. Metabolic myopathies: Update 2009. J Clin Neuromuscul Dis. 2009;10(3):97–121. doi: 10.1097/CND.0b013e3181903126.
    1. Sofou K, De Coo IF, Isohanni P, Ostergaard E, Naess K, De Meirleir L, et al. A multicenter study on Leigh syndrome: Disease course and predictors of survival. Orphanet J Rare Dis. 2014;9(1):52. doi: 10.1186/1750-1172-9-52.
    1. Kisler JE, Whittaker RG, McFarland R. Mitochondrial diseases in childhood: A clinical approach to investigation and management. Dev Med Child Neurol. 2010;52(5):422–433. doi: 10.1111/j.1469-8749.2009.03605.x.
    1. Jones HN, Muller CW, Lin M, Banugaria SG, Case LE, Li JS, et al. Oropharyngeal Dysphagia in Infants and Children with Infantile Pompe Disease. Dysphagia. 2009;25:277–283.
    1. van Gelder CM, van Capelle CI, Ebbink BJ, Moor-van Nugteren I, van den Hout JM, Hakkesteegt MM, et al. Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy. J Inherit Metab Dis. 2012;35(3):505–511. doi: 10.1007/s10545-011-9404-7.
    1. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006;8(5):267–288.
    1. Mammen AL, Casciola-Rosen LA, Hall JC, Christopher-Stine L, Corse AM, Rosen A. Expression of the dermatomyositis autoantigen Mi-2 in regenerating muscle. Arthritis Rheum. 2009;60(12):3784–3793. doi: 10.1002/art.24977.
    1. McCann LJ, Juggins AD, Maillard SM, Wedderburn LR, Davidson JE, Murray KJ, et al. The Juvenile Dermatomyositis National Registry and Repository (UK and Ireland)–clinical characteristics of children recruited within the first 5 yr. Rheumatology (Oxford) 2006;45(10):1255–1260. doi: 10.1093/rheumatology/kel099.
    1. McCann LJ, Garay SM, Ryan MM, Harris R, Riley P, Pilkington CA. Oropharyngeal dysphagia in juvenile dermatomyositis (JDM): An evaluation of videofluoroscopy swallow study (VFSS) changes in relation to clinical symptoms and objective muscle scores. Rheumatology (Oxford) 2007;46(8):1363–1366. doi: 10.1093/rheumatology/kem131.
    1. Ravelli A, Trail L, Ferrari C, Ruperto N, Pistorio A, Pilkington C, et al. Long-term outcome and prognostic factors of juvenile dermatomyositis: A multinational, multicenter study of 490 patients. Arthritis Care Res (Hoboken) 2010;62(1):63–72. doi: 10.1002/acr.20015.
    1. Cichero JA, Steele C, Duivestein J, Clave P, Chen J, Kayashita J, et al. The Need for International Terminology and Definitions for Texture-Modified Foods and Thickened Liquids Used in Dysphagia Management: Foundations of a Global Initiative. Curr Phys Med Rehabil Reports. 2013;1:280–291. doi: 10.1007/s40141-013-0024-z.
    1. Cooper-Brown L, Copeland S, Dailey S, Downey D, Petersen MC, Stimson C, et al. Feeding and swallowing dysfunction in genetic syndromes. Dev Disabil Res Rev. 2008;14(2):147–157.
    1. Le Reverend BJ, Edelson LR, Loret C. Anatomical, functional, physiological and behavioural aspects of the development of mastication in early childhood. Br J Nutr. 2014;111(3):403–414. doi: 10.1017/S0007114513002699.
    1. Erasmus CE, van Hulst K, Rotteveel LJ, Jongerius PH, van den Hoogen FJ, Roeleveld N, et al. Drooling in cerebral palsy: Hypersalivation or dysfunctional oral motor control? Dev Med Child Neurol. 2009;51(6):454–459.
    1. Weir KA, McMahon S, Taylor S, Chang AB. Oropharyngeal aspiration and silent aspiration in children. Chest. 2011;140(3):589–597.
    1. Sullivan PB. Gastrointestinal disorders in children with neurodevelopmental disabilities. Dev Disabil Res Rev. 2008;14(2):128–136.
    1. Matsuo K, Palmer JB. Anatomy and physiology of feeding and swallowing: Normal and abnormal. Phys Med Rehabil Clin N Am. 2008;19(4):691–707. doi: 10.1016/j.pmr.2008.06.001.
    1. van den Engel-Hoek L, Erasmus CE, de Swart BJ, Sie LT, de Groot IJM. Neonatal swallowing assessment and practical recommendations for oral feeding in a girl with a severe congenital myopathy. J Child Neurol. 2011;26(8):1041–1044.
    1. Seguy D, Michaud L, Guimber D, Cuisset JM, Devos P, Turck D, et al. Efficacy and tolerance of gastrostomy feeding in pediatric forms of neuromuscular diseases. J Parenter Enteral Nutr. 2002;26(5):298–304.
    1. van den Engel-Hoek L, van Alfen N, de Swart BJ, de Groot IJM, Pillen S. Quantitative ultrasound of the tongue and submental muscles in children and young adults. Muscle Nerve. 2012;46(1):31–37.
    1. Jansen BH, Pillen S, Voet NB, Heerschap A, van Engelen BG, van Alfen N. Quantitative muscle ultrasound versus quantitative magnetic resonance imaging in facioscapulohumeral dystrophy. Muscle Nerve. 2014;50(6):968–975. doi: 10.1002/mus.24247.
    1. de Swart BJ, van der Sluijs BM, Vos AM, Kalf JG, Knuijt S, Cruysberg JR, et al. Ptosis aggravates dysphagia in oculopharyngeal muscular dystrophy. J Neurol Neurosurg Psychiatry. 2006;77(2):266–268.
    1. de Swart B. the Netherlands: Radboud University Nijmegen; 2006. Speech therapy in patients with neuromuscular disorders and Parkinson’s disease.
    1. van der Bilt A. Assessment of mastication with implications for oral rehabilitation: A review. J Oral Rehabil. 2011;38(10):754–780. doi: 10.1111/j.1365-2842.2010.02197.x.
    1. Ramdharry GM. Rehabilitation in practice: Management of lower motor neuron weakness. Clin Rehabil. 2010;24(5):387–397.
    1. Carnaby-Mann GD, Crary MA. McNeill dysphagia therapy program: A case-control study. Arch Phys Med Rehabil. 2010;91(5):743–749. doi: 10.1016/j.apmr.2010.01.013.
    1. Jansen M, van Alfen N, Geurts AC, de Groot IJ. Assisted bicycle training delays functional deterioration in boys with Duchenne muscular dystrophy: The randomized controlled trial “no use is disuse”. Neurorehabil Neural Repair. 2013;27(9):816–827. doi: 10.1177/1545968313496326.
    1. Bruggen HW, Engel-Hoek LV, Steenks MH, Bilt AV, Bronkhorst EM, Creugers NH, et al. Fighting Against Disuse of the Masticatory System in Duchenne Muscular Dystrophy: A Pilot Study Using Chewing Gum. J Child Neurol. 2015;30(12):1625–1632. doi: 10.1177/0883073815575575.
    1. Ramelli GP, Aloysius A, King C, Davis T, Muntoni F. Gastrostomy placement in paediatric patients with neuromuscular disorders: Indications and outcome. Dev Med Child Neurol. 2007;49(5):367–371. doi: 10.1111/j.1469-8749.2007.00367.x.
    1. DiVito DMT, Meyers R. Nutrition assessment of children with neuromuscular disease at the Children’s Hospital of Philadelphia. Top Clinical Nutrition. 2012;27(3):11. doi: 10.1097/TIN.0b013e318262930a.
    1. Erasmus CE, van HK, Rotteveel JJ, Willemsen MA, Jongerius PH. Clinical practice: Swallowing problems in cerebral palsy. Eur J Pediatr. 2012;171:409–414.
    1. Sjogreen L, Tulinius M, Kiliaridis S, Lohmander A. The effect of lip strengthening exercises in children and adolescents with myotonic dystrophy type 1. Int J Pediatr Otorhinolaryngol. 2010;74(10):1126–1134. doi: 10.1016/j.ijporl.2010.06.013.
    1. Kiliaridis S, Katsaros C. The effects of myotonic dystrophy and Duchenne muscular dystrophy on the orofacial muscles and dentofacial morphology. Acta Odontol Scand. 1998;56(6):369–374.

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