Feeding and swallowing dysfunction in genetic syndromes

Developmental Disabilities Research Reviews

Volumn 14, Issue 2, 2008, Pages 147-157

  Cooper Brown, Linda ^a   Copeland, Sara ^a,b   Dailey, Scott ^c   Downey, Debora ^b   Petersen, Mario Cesar ^d   Stimson, Cheryl ^a   Van Dyke, Don C ^a,b,e  

^a UNIVERSITY OF IOWA CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e Child Health Specialty Clinics   (United States)

Author keywords

Feeding dysfunction; Genetic syndromes; Swallowing difficulty

Indexed keywords

ASPIRATION; BOTTLE FEEDING; BREAST FEEDING; CHROMOSOME DELETION; CLEFT LIP; CLEFT PALATE; COMORBIDITY; DIGEORGE SYNDROME; DOWN SYNDROME; DYSPHAGIA; ENERGY YIELD; FACE SURGERY; FEEDING DISORDER; GENETIC DISORDER; INBORN ERROR OF METABOLISM; INTOXICATION; LIP RECONSTRUCTION; LYSOSOME STORAGE DISEASE; MENINGOMYELOCELE; METABOLIC DISORDER; MOTOR DYSFUNCTION; PALATOPLASTY; PIERRE ROBIN SYNDROME; PRADER WILLI SYNDROME; PRIORITY JOURNAL; RETT SYNDROME; REVIEW; VELOCARDIOFACIAL SYNDROME; WILLIAMS BEUREN SYNDROME;

EID: 48249140578     PISSN: 19405510     EISSN: 10982779     Source Type: Journal    
DOI: 10.1002/ddrr.19     Document Type: Review

References (125)

1. Amir RE, Van den Veyve IB, Wan M, et al. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23: 185-188.
2. Armstrong DD, Dunn JK, Schultz RJ, et al. 1999. Organ growth in Rett syndrome: a postmortem examination analysis. Pediatr Neurol 20:125-129.
3. Armstrong J, Pineda M, Aibar E, et al. 2001. Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation. Ann Neurol 50:692.
4. Arvedson JC, Brodsky L. 2002. Pediatric swallowing and feeding assessment and management, 2nd ed. Albany, New York: Singular.
5. Asher M, Olson J. 1983. Factors affecting the ambulatory status of patients with spina bifida cystica. Journal of Bone and Joint Surgery Am 65:350-356.
6. Auranen M, Vanhala R, Vosman M, et al. 2001. MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Neurology 56:611-617.
7. Baer MT, Waldron J, Gumm H, et al. 1990. Nutritional Assessment of the child with Down syndrome. Clinical perspectives in the management of Down syndrome. New York: Springer-Verlag. p 107-125.
8. Bartonek A, Saraste H. 2001. Factors influencing ambulation in myelomeningocele: a cross-sectional study. Dev Med Child Neurol 43:253-260.
9. Baujat G, Faure C, Zaouche A, et al. 2001. Oroesophageal motor disorders in Pierre Robin syndrome. Journal of Pediatric Gastroenterology and Nutrition 32:297-302.
10. Biancuzza, M. 1998. Yes! Infants with clefts can breastfeed. AWOHHN Lifelines 2:5-49.
11. Bienvenu T, Carrie A, de Roux N, et al. 2000. MECP2 mutations account for most cases of typical forms of Rett syndrome. Hum Mol Genet 9:1377-1384.
12. Bourdon V, Philippe C, Grandemenge A, et al. 2001. Deletion screening by fluorescence in situ hybridization in Rett syndrome patients. Ann Genet 44:191-194.
13. Bowman RM, McLone DG, Grant JA, et al. 2001. Spina bifida outcome: a 25-year prospective. Pediatr Neurosurg 34:114-120.
14. Chae JH, Hwang YS, Kim KJ. 2002. Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome. J Child Neurol 17:33-36.
15. Charney EB, Rosenblum M, Finegold D. 1981. Linear growth in a population of children with myelomeningocele. Z Kinderchir 34:415-419.
16. Cohen M, Marschall MA, Schafer ME. 1992. Immediate unrestricted feeding of infants following cleft lip and palate repair. J Craniofac Surg 3:30-32.
17. Cronk C, Crocker AC, Pueschel SM, et al. 1981. Growth charts for children with Down syndrome: 1 month to 18 years of age. Pediatrics 81:102-110.
18. Cullen SM, Cronk CE, Pueschel SM, et al. 1981. Social development and feeding milestones of young Down syndrome children. Am J Ment Defic 85:3-40.
19. Cuneo BF. 2001. 22q11.2 Deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Curr Opin Pediatr 13:465-472.
20. Darzi MA, Chowdri NA, Bhat AN. 1996. Breasts feeding or spoon feeding after cleft lip repair: a prospective randomized study. Br J Plast Surg 49:24-36.
21. da Silva Dalben G, Costa B, Riveiro Gomide MR, Teixeira das Nieves LT. 2003. Breast-feeding and sugar intake in babies with cleft lip and palate. Cleft Palate-Craniofac J 40:84-87.
22. de Baulny HO, Benoist JF, Rigal O, et al. 2005. Methylmalonic and propionic acidaemias: management and outcome. J Inherit Metab Dis 28:415-423.
23. Denizot S, Boscher C, Le Vaillant, et al. 2004. Perinatal/neonatal case presentation, distal arthrogyposis and neonatal hypotonia : an unusal presentation of Prader-Willi syndrome (PWS). J Perinatol 24:733-734.
24. Dyste GN, Menezes AH, VanGilder JC. 1989. Symptomatic Chiari malformations: an analysis of presentation, management, and long-term outcome. J Neurosurg 71:159-168.
25. Eicher PS, McDonald-McGinn DM, Fox CA, et al. 2000. Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow. Pediatrics 137:158-164.
26. Erkkila AT, Isotalo E, Pulkkinen J, et al. 2005. Association between school performance, breast milk intake and fatty acid profile of serum lipids in ten-year-old cleft children. J Craniofac Surg 16:764-769.
27. Evans AD, Rahbar R, Rogers GF, Mulliken JB, Volk MS. 2006. Robin sequence: a retrospective review of 115 patients. Int J Pediatr Otorhinolaryngol 70:973-980.
28. Evans JC, Archer HL, Colley JP, et al. 2005. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet 13:1113-1120.
29. Fernbach SK, McLone DG. 1985. Derangement of swallowing in children with myelomeningocele. Pediatr Radiol 15:311-314.
30. Fiore P, Picco P, Castagnola E, et al. 1998. Nutritional survey of children and adolescents with myelomeningocele [MMC]: overweight associated with reduced energy intake. Eur J Pediatr Surg 8:34-36.
31. Frazier JB, Friedman B. 1996. Swallow function in children with Down syndrome: a retrospective study. Dev Med Child Neurol 38:695-703.
32. Fung, Cheuk-Wing. 2005. Population-based study on the practice of breastfeeding in children born with cleft lip and palate. Cleft Palate-Craniofac J 42:687-692.
33. Geerdink N, Rotteveel JJ, Lammens M, et al. 2002. MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neopathological, and molecular findings. Neuropediatrics 33:33-36.
34. Garcez LW, Giugliani ER. 2005. Population-based study on the practice of breastfeeding in children born with cleft lip and palate. Cleft Palate-Craniofac J 42:687-692.
35. Gisel EG, Loren JL, Niman CW. 1984. Chewing cycles in 4 and 5 year old Down syndrome children: a comparison of eating efficacy with normals. Am J Occup Ther 38:666-670.
36. Glenny AM, Hooper L, Shaw WC, et al. 2004. Feeding interventions for growth and development in infants with cleft lip, cleft palate or cleft lip and palate. Cochrane Database of Systemic Reviews. New York: Wiley.
37. Goldmuntz E. 2005. DiGeorge syndrome: new insights. Clin Perinatol 32:963-978.
38. Grogan CB, Ekvall SM. 1999. Body composition of children with myelomeningocele, determined by 40K, urinary creatinine and anthropometric measures. J Am Coll Nutr 18: 316-323.
39. Gunay-Aygun M, Schwartz S, Heeger S, et al. 2001. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics, 108: 1-5.
40. Hagberg B. 1995. Clinical delineation of Rett syndrome variants. Neuropediatrics 26:62.
41. Hagberg B. 2002. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev 8:61-65.
42. Hagberg B, Aicardi J, Dias K, et al. 1983. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 14:471-479.
43. Hagberg B, Hanefeld F, Percy A, et al. 2002. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett syndrome clinical criteria consensus panel satellite to European Paediatric Neurology Society Meeting, Baden Baden, Germany, 11 September 2001. Eur J Paediatr Neurol 6:293-297.
44. Hagberg B, Witt-Engerstrom I. 1986. Rett syndrome: a suggested staging system for describing impairment profile with increasing age towards adolescence. Am J Med Genet Suppl 1:47-59.
45. Hagberg BA, Skjeldal OH. 1994. Rett variants: a suggested model for inclusion criteria. Pediatr Neurol 11:5-11.
46. Hayes-Allen MC, Tring FC. 1973. Obesity: another hazard for spina bifida children. Br J Prev Soc Med 27:192-196.
47. Head LS, Abbeduto L. 2007. Recognizing the role of parents in developmental outcomes: a systems approach to evaluating the child with developmental disabilities. Ment Retard Dev Disabil Res Rev 13:293-301.
48. Hochhaus F, Butenandt O, Ring-Mrozik E. 1999. One-year treatment with recombinant human growth hormone of children with meningomyelocele and growth hormone deficiency: a comparison of supine length and arm span. J Pediatr Endocrinol Metab 12:153-159.
49. Hochhaus F, Butenandt O, Schwarz HP, et al. 1997. Auxological and endocrinological evaluation of children with hydrocephalus and/ or meningomyelocele. Eur J Pediatr 156: 597-601.
50. Hoffman HJ, Hendrick EB, Humphreys RP. 1975. Manifestations and management of Arnold-Chiari malformation in patients with myelomeningocele. Childs Brain 1:255-259.
51. Huppke P, Held M, Laccone F, et al. 2003. The spectrum of phenotypes in females with Rett Syndrome. Brain Dev 25:346-351.
52. Huppke P, Laccone F, Kramer N, et al. 2000. Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. Hum Mol Genet 9:1369-1375.
53. Huppke P, Ohlenbusch A, Brendel C, et al. 2005. Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2. Am J Med Genet 137:136-138.
54. Huppke P, Roth C, Christen HJ, et al. 2001. Endocrinological study on growth retardation in Rett syndrome. Acta Paediatr 90: 1257-1261.
55. Isaacs JS, Murdock M, Lane J, et al. 2003. Eating difficulties in girls with Rett syndrome compared with other developmental disabilities. J Am Diet Assoc 103:224-230.
56. Keegan CE, Martin DM, Quint DJ, et al. 2003. Acute extra pyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation. Eur J Apr 162:259-63.
57. Leonard H, Fyfe S, Leonard S, et al. 2001. Functional status, medical impairments, and rehabilitation resources in 84 females with Rett syndrome: a snapshot across the world from the parental perspective. Disabil Rehabil 23(3/4):107-117.
58. Leonard H, Silberstein J, Falk R, et al. 2001. Occurrence of Rett syndrome in boys. J Child Neurol 16:333-338.
59. Li H.Y, Lo LJ, Chen KS, et al. 2002. Robin sequence: review of treatment modalities for airway obstruction in 110 cases. Int J Pediatr Otolaryngology 65:45-51.
60. Li MR, Pan H, Bao XH, et al. 2007. MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. J Hum Genet 52:38-47.
61. Linder A, Lindholm CE. 1997. Laryngologic management of infants with the Chiari II syndrome. Int J Pediatr Otorhinolaryngol 39: 187-197.
62. Littlewood RA, Trocki O, Shepherd RW, et al. 2003. Resting energy expenditure and body composition in children with myelomeningocele. Pediatr Rehabil 6:31-37.
63. Lund AM, Leonard JV. 2001. Feeding difficulties in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Arch Dis Child 85:487-488.
64. Masarei AG, Sell D, Habel A, et al. 2007. The nature of feeding infants with unrepaired cleft lip and/or palate compared with health noncleft infants. Cleft Palate-Craniofac J 44: 321-328.
65. Masuyama T, Matsuo M, Jing JJ, et al. 2005. Classic Rett Syndrome in a Boy with R133C Mutation of MECP2. Brain Dev 27:439-442.
66. McLone DG, Dias MS. 2003. The Chiari II malformation: cause and impact. Childs Nerv Syst 19(7/8):540-550.
67. Meyer S, Landau H. 1984. Precocious puberty in myelomeningocele patients. J Pediatr Orthop 4:28-31.
68. Mita K, Akataki K, Itoh K, et al. 1993. Assessment of obesity of children with spina bifida. Dev Med Child Neurol 35:305-311.
69. Moss ALH, Jones K, Piggot RW. 1990. Submucous cleft palate in the differential diagnosis of feeding difficulties. Arch Dis Child 65: 182-184.
70. Morgan J, Rolles C. 1984. The nutrition and growth over a 10 month period of an infant with the Prader-Willi syndrome. Hum Nutr Appl Nut 38:304-307.
71. Motil KJ, Schultz R, Brown B, et al. 1994. Altered energy balance may account for growth failure in Rett syndrome. J Child Neurol 9:315-319.
72. Motil KJ, Schultz RJ, Browning K, et al. 1999. Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome. J Pediatr Gastroenterol Nutr 29:31-37.
73. Motil KJ, Schultz RJ, Wong WW, et al. 1998. Increased energy expenditure associated with repetitive involuntary movement does not contribute to growth failure in girls with Rett syndrome. J Pediatr 132:228-233.
74. Nassar E, Marques IL, Trindale AS, et al. 2006. Feeding-facilitating techniques for the nursing infant with robin sequence. Cleft Palate-Craniofac J 43:55-60
75. Nectoux J, Heron D, Tallot M, et al. 2006. Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett Syndrome. Clin Genet 70:29-33.
76. North KN, Korson MS, Gopal YR, et al. 1995. Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management. J Pediatr 126:916- 922.
77. O'Neill KL, Shults J, Stallings VA, et al. 2005. Child feeding practices in children with Down syndrome and their siblings. J Pediatr 146:234-238.
78. Ortiz Monasterio F, Molina F, Berlanga F, et al. 2004. Swallowing disorders in Pierre Robin sequence: its correction by distraction. J Craniofac Surg 15:934-941.
79. Palmer C, Cronk C, Pueschel SM, et al. 1992. Head circumference of children with Down syndrome (0-36 months). Am J Med Genet 42:61-67.
80. Paradize JL, Elster BA, Tan L. 1994. Evidence in infants with cleft palate that breast milk protects against otitis media. Pediatrics 6:853-860.
81. Parens E, editor. 2006. Surgically shaping children: technology, ethics, and the pursuit of normality. Baltimore: Johns Hopkins University Press.
82. Parsons CL, Iacoono TA, Rozner L. 1987. Effects of tongue reduction on articulation in children with Down syndrome. Am J Ment Defic 91:328-332.
83. Perrone L, Del Gaizo D, D'Angelo E, et al. 1994. Endocrine studies in children with myelomeningocele. J Pediatr Endocrinol 7:219-223.
84. Pipes PL, Holm VA. 1980. Feeding children with Down's syndrome. Am Diet Assoc 77:277-282.
85. Pollack IF, Kinnunen D, Albright AL. 1996. The effect of early craniocervical decompression on functional outcome in neonates and young infants with myelodysplasia and symptomatic Chiari II malformations: results from a prospective series. Neurosurgery 38: 703-710; discussion 710.
86. Pollack IF, Pang D, Albright AL, et al. 1992. Outcome following hindbrain decompression of symptomatic Chiari malformations in children previously treated with myelomeningocele closure and shunts. J Neurosurg 77: 881-888.
87. Reid J, Reilly S, Kilpatrick H. 2007. Sucking performance of babies with cleft conditions. Cleft Palate-Craniofac J 44:312-320.
88. Reilly S, Cass H. 2001 Growth and nutrition in Rett syndrome. Disabil Rehabil 23(3/4): 118-128.
89. Rett A. 1966. On an unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr 116:723-726.
90. Rett Syndrome Diagnostic Criteria Work Group. 1988. Diagnostic criteria for Rett syndrome. The Rett Syndrome Diagnostic Criteria Work Group. Ann Neurol 23:425-428.
91. Roberts D, Shepherd RW, Shepherd K. 1991. Anthropometry and obesity in myelomeningocele. J Paediatr Child Health 27:83-90.
92. Rosenblum MF, Finegold DN, Charney EB. 1983. Assessment of stature of children with myelomeningocele, and usefulness of arm-span measurement. Dev Med Child Neurol 25:338-342.
93. Rotenstein D, Adams M, Reigel DH. 1995. Adult stature and anthropomorphic measurements of patients with myelomeningocele. Eur J Pediatr 154:398-402.
94. Rotenstein D, Bass AN. 2004. Treatment to near adult stature of patients with myelomeningocele with recombinant human growth hormone. J Pediatr Endocrinol Metab 17:1195- 1200.
95. Rotenstein D, Breen TJ. 1996. Growth hormone treatment of children with myelomeningocele. J Pediatr 128(5, Part 2):S28-S31.
96. Rotenstein D, Reigel DH, Lucke JF. 1996. Growth of growth hormone-treated and nontreated children before and after tethered spinal cord release. Pediatr Neurosurg 24:237-241.
97. Rotenstein D. 1996. Arm span as measurement of response to GH treatment. J Clin Endocrinol Metab 81:3432.
98. Satin-Smith MS, Katz LL, Thornton P, et al. 1996. Arm span as measurement of response to growth hormone [GH] treatment in a group of children with meningomyelocele and GH deficiency. J Clin Endocrinol Metab 81:1654-1656.
99. Scala E, Ariani F, Mari F, et al. 2005. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet 42: 103-107.
100. Schultz RJ, Glaze DG, Motil KJ, et al. 1993. The pattern of growth failure in Rett syndrome. Am J Dis Child 147:633-637.
101. Schwartzman JS, Bernardino A, Nishimura A, et al. 2001. Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene. Neuropediatrics 32:162-164.
102. Seashore MR. 2006. The organic acidemias: an overview. Available at:ww.GeneReviews.org.
103. Shaw WC, Bannister RPB, Roberts CT. 1999. Assisted feeding is more reliable for infants with clefts - a randomized trial. Cleft Palate-Craniofac J 36:262-268.
104. Shephard K, Roberts D, Golding S, et al. 1991. Body compostition in melomeningocele. Am J Clin Nutr 53:1-6.
105. Singer L, Sidoti EJ. 1992. Pediatric management of Robin sequence. Cleft Palate-Craniofac J 29:220-223.
106. Smith MC, Senders CW. 2006. Prognosis of airway obstruction and feeding difficulty in Robin sequence. Int J Pediatr Otorhinolaryngol 70:319-324.
107. Spender Q, Stein A, Dennis J, et al. 1996. An Exploration of feeding difficulties in children with Down syndrome. Dev Med Child Neurol 38:681-694.
108. Sterling ES. 1992. Oral and dental considerations in Down syndrome. In: Lott IT, McCoy EE, editors. Down syndrome: advances in medical care. New York: Wiley-Liss.
109. Stoel-Gammon C. 2001. Down syndrome phonology: developmental patterns and intervention strategies. Downs Syndr Res Pract 7:93-100.
110. Sugayaman SMM, Leone C, Chauffaille MDLLF, et al. 2007. Williams syndrome, development of a new scoring system for clinical diagnosis. Clinics 62:159-166.
111. Takagi Y, McCalla JL, Bosma JF. 1966. Prone feeding of infants with the Pierre Robin syndrome. Cleft Palate J 3:232-239.
112. Topcu M, Akyerli C, Sayi A, et al. 2002. Somatic mocaicism for a MECP2 mutation associated with classic Rett syndrome in a boy. Eur J Hum Genet 10:77-81.
113. Trollmann R, Dorr HG, Strehl E, et al. 1996. Growth and pubertal development in patients with meningomyelocele: a retrospective analysis. Acta Paediatr 85:76-80.
114. Trollmann R, Strehl E, Dorr HG. 1998. Precocious puberty in children with myelomeningocele: treatment with gonadotropin-releasing hormone analogues. Dev Med Child Neurol 40:38-43.
115. Trollmann R, Strehl E, Wenzel D, et al. 1998. Arm span, serum IGF-1 and IGFBP-3 levels as screening parameters for the diagnosis of growth hormone deficiency in patients with myelomeningocele-preliminary data. Eur Disabil Rehabil 157:451-455.
116. van Cleeve SN, Cohen WI. 2006. Part I: Clinical practice guidelines for children with Down syndrome from birth to 12 years. J Pediatr Health Care 20:47-54.
117. van den Berg-Emons HJ, Bussmann JB, Meyerink HJ, et al. 2003. Body fat, fitness and level of everyday physical activity in adolescents and young adults with meningomyelocele. J Rehabil Med 35:271-275.
118. van den Elzen APM, Semmekrot BA, Boungers EMHF, et al. 2001. Diagnosis and treatment of Pierre Robin sequence: results of a retrospective clinical study and review of the literature. Eur J Pediatr 160:47-53.
119. Van Dyke DC, Peterson LL, Hoffman MN. 1990. Problems in feeding. In: Van Dyke DC, Lang DJ, Heide F, van Duyne S, Soucek J, editors. Clinical perspectives in the management of Down syndrome. New York: Springer-Verlag. pp 102-106.
120. Verhoef M, Barf HA, Post MW, et al. 2004. Secondary impairments in young adults with spina bifida. Dev Med Child Neurol 46: 420-427.
121. Villard L, Kpebe A, Cardoso C, et al. 2000. Two affected boys in a Rett syndrome family: clinical and molecular findings. Neurology 55:1188-1193.
122. Wagener S, Rayatt SS, Tatman AJ, et al. 2003. Management of infants with Pierre Robin sequence. Cleft Palate-Craniofac J 40:179-185.
123. Wikipedia: the free encyclopedia. 2008. Health aspects of Down syndrome. Available at: http://en.wikipedia.org/wiki/Healtlh_aspects_of_Down_syndrome. Accessed on June 17, 2007.
124. Wolf L, Glass R. 1992. Feeding and swallowing disorders in infancy: assessment and management. San Antonio, Texas: Therapy Skill Builders.
125. Yeh TC, Yeung CY, Sheu JC, et al. 2003. Percutaneous endoscopic gastrostomy in children: 15 cases experience. Acta Paediatr Taiwan, May-June 44:135-139.