Gastrointestinal Issues and Oral-motor Behaviors
Feeding problems are frequent but not generally severe and usually manifest early as difficulty in sucking or swallowing [1-3]. Tongue movements may be uncoordinated with thrusting and generalized oral-motor incoordination. There may be trouble initiating sucking and sustaining breast feeding, and bottle feeding may prove easier. Frequent spitting up may be interpreted as formula intolerance or gastroesophageal reflux. The feeding difficulties often first present to the physician as a problem of poor weight gain or as a "failure to thrive" concern. Infrequently, severe gastroesophageal reflux may require surgery.
AS children are notorious for putting everything in their mouths. In early infancy, hand sucking (and sometimes foot sucking) is frequent. Later, most exploratory play is by oral manipulation and chewing. The tongue appears to be of normal shape and size, but in 30-50%, persistent tongue protrusion is a distinctive feature. Some have constant protrusion and drooling while others have protrusion that is noticeable only during laughter. Some infants with protrusion eventually have no noticeable problem during later childhood (some seem to improve after oral-motor therapy). For the usual AS child with protruding tongue behavior, the problem remains throughout childhood and can persist into adulthood. Drooling is frequently a persistent problem, often requiring bibs. Use of medications such as scopolamine to dry secretions usually does not provide an adequate long term effect. Surgical procedures to ameliorate drooling are possible [4] but apparently rarely used in AS.
1. Zori RT, Hendrickson J, Woolven S, et al. Angelman syndrome: clinical profile. J Child Neurol, 1992. 7(3): p. 270-80.
2. Williams CA, Zori RT, Hendrickson J, et al. Angelman syndrome. Curr Probl Pediatr, 1995. 25(7): p. 216-31.
3. Fryburg JS, Breg WR and Lindgren V. Diagnosis of Angelman syndrome in infants. Am J Med Genet, 1991. 38(1): p. 58-64.
4. Boyce HW and Bakheet MR. Sialorrhea: a review of a vexing, often unrecognized sign of oropharyngeal and esophageal disease. J Clin Gastroenterol, 2005. 39(2): p. 89-97.