An Infant’s Glossal Anomaly: A Diagnosis on the Tip of the Tongue

A 10-month-old girl presented with an abnormally shaped tongue. She had been born to a gravida 2, para 1, 28-year-old mother at 37 weeks of gestation. The mother had been healthy during the pregnancy and had not been on any medication. The neonatal course was unremarkable; in particular, there was no problem with breastfeeding.

Physical examination showed a short, thickened, lingual frenulum and a notch or heart-shaped deformity at the tip of the tongue. The rest of the physical examination findings were unremarkable.

What’s your diagnosis?

(Answer and discussion on next page)

Answer: Ankyloglossia

Ankyloglossia derives from the Greek ankylos, meaning curved or crooked, and glossa, meaning tongue. Ankyloglossia, or tongue-tie, refers to a short, thickened, or abnormally tight lingual frenulum, which inhibits movement of the tongue.

PREVALENCE and Etiology

The reported worldwide prevalence ranges from 3% to 16%.¹ The wide variation in prevalence can be accounted for by the different diagnostic criteria and different ages of assessment for diagnosis. Ankyloglossia is less common in older children and adults.² The male to female ratio is 1.5 to 3:1.^3,4

During fetal development, the tongue is fused to the floor of the mouth. Cell death and resorption free the tongue.⁵ The frenulum is an embryologic remnant of tissue in the midline between the undersurface of the tongue and the floor of the mouth. The exact etiology of ankyloglossia is not known. The condition usually is sporadic and occurs as an isolated finding in an otherwise normal child.² Maternal cocaine use increases the risk of ankyloglossia more than threefold.^6,7 Ankyloglossia can be a part of certain syndromes such as X-linked cleft palate syndrome, Kindler syndrome, Van der Woude syndrome, orofaciodigital syndrome, Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, and Opitz syndrome.^3,6,8,9

There is a genetic predisposition, with possible involvement of human G protein–coupled receptor gene (LGR5).¹⁰ Mutations in the T-box transcription factor gene (TBX22) may lead to X-linked ankyloglossia with or without cleft lip or cleft palate.¹¹ An autosomal dominant mode of inheritance with incomplete penetrance also has been reported.⁶

CLINICAL MANIFESTATIONS and Complications

Ankyloglossia is a congenital anomaly characterized by a short, thickened, or abnormally tight and sometimes anteriorly inserted lingual frenulum, which hinders movement of the anterior tip of the tongue.^2,12 With attempted protrusion of the tongue, frequently a notch or heart-shaped deformity is visible at the tip of the tongue.⁷ Affected individuals may have difficulties protruding the tongue over the lower alveolar ridge or difficulties lifting the tongue to the upper dental alveoli.^2,13 Side-to-side motion of the tongue may be impaired, as well.⁷ Most affected individuals are asymptomatic.

Ankyloglossia may cause breastfeeding difficulties such as maternal sore nipples, suboptimal latch-on, inefficient and inadequate sucking, poor infant weight gain, and early weaning.^8,14-16 It has been suggested that ankyloglossia may lead to articulation problems if the restriction of tongue movement is severe.⁹ However, a recent systematic review found insufficient data to suggest a causative association between ankyloglossia and speech articulation problems.⁴ Other potential sequelae that have not been substantiated by high-quality studies include poor oral hygiene, cuts beneath the tongue, malocclusion, tongue thrust, open bites, diastasis between the lower central incisors, difficulty in playing a wind instrument, psychological stress, and social embarrassment during childhood and adolescence.^3,8,15,17

DIAGNOSTIC TOOLS

The diagnosis is mainly clinical, and no laboratory test is necessary. The Hazelbaker Assessment Tool for Lingual Frenulum Function (HATLEF) has been devised to assess the severity of tongue-tie in newborn infants.¹⁸ This tool evaluates the tongue’s appearance (5 items) and functional aspects (7 items) and uses a scoring system to classify the tongue into 1 of 3 categories: functionally impaired, acceptable, or perfect. A major limitation of HATLEF is that a significant number of affected infants could not be classified into any of the proposed categories.^9,19 Another limitation is that the tool might be too lengthy and complex for use in a busy office.¹⁶ Furthermore, HATLEF has not been validated in a controlled manner.

A simple classification measuring the “free tongue,” which is defined as the tongue’s length as measured from the insertion of the lingual frenulum into the tongue’s base to its tip, also has been suggested.²⁰ Based on free tongue length, ankyloglossia can be classified as mild, moderate, severe, or complete.

The Bristol Tongue Assessment Tool provides an objective and simple indication of the severity of tongue-tie.¹ The 4 items to be assessed are tongue tip appearance, attachment of frenulum to the lower gum ridge, lift of the tongue with the mouth wide (eg, crying), and tongue tip on protrusion of the tongue. Zero points are assigned to each of these 4 criteria: a heart-shaped tongue tip; frenulum attached at the top of the gum ridge; minimal tongue lift with the mouth wide; and on protrusion of the tongue, the tip stays behind the gum. One point is assigned to each of these 4 criteria: a slightly cleft/notched tongue; frenulum attached to the inner aspect of the gum; the edges of the lifted tongue only reach mid-mouth with the mouth wide; and a tongue tip that extends over the gum with protrusion of the tongue. Two points are assigned to each of these 4 criteria: a rounded tongue tip; frenulum attached to the floor of mouth; full tongue lift to mid-mouth with the mouth wide; and the tongue tip can extend over the lower lip on protrusion of the tongue. The scores for the 4 items are summed and can range from 0 to 8. Scores of 0 to 3 indicate more severe reduction of tongue function.

MANAGEMENT

Ankyloglossia usually is a harmless condition. The frenulum usually lengthens as the child gets older and with progressive stretching and thinning of the frenulum. Treatment usually is unnecessary apart from parental education and reassurance.^2,5,7

The absolute indication for surgical intervention (frenotomy and, less commonly, frenuloplasty) is breastfeeding difficulties as a result of the ankyloglossia.^2,7,12,14 Frenuloplasty usually is reserved for ankyloglossia that is not relieved by frenotomy or for patients with a very thick frenulum.¹³ The optimal timing of surgical intervention is controversial. Some authors suggest that ankyloglossia should be treated as early as possible to minimize breastfeeding problems.¹³ Other authors recommend 2 to 3 weeks as reasonable timing for intervention, since 50% of breastfeeding infants with ankyloglossia will not encounter any problems and therefore do not require surgical intervention.²¹

The procedure should be performed by an experienced physician and with appropriate analgesia.⁵ Occasionally, surgical intervention can be complicated by bleeding, infection, or injury to the submandibular duct.^2,22 Recently, Francis and colleagues¹⁷ performed a systematic review of 29 studies (5 randomized controlled trials, 1 retrospective cohort study, and 23 case series) that reported frenotomy for infants with ankyloglossia and breastfeeding outcomes. They found that frenotomy may be associated with mother-reported improvements in breastfeeding and reduction of nipple pain. However, with outcome measures being heterogeneous and short-term, coupled with inconsistent methodology, the strength of evidence is low to insufficient.

Surgical intervention in the neonatal period for the prevention of speech articulation problems in patients with ankyloglossia is controversial. Some authors believe that neonatal frenotomy may positively influence subsequent speech and language development.⁷ Other authors are of the opinion that a short frenulum will elongate spontaneously with progressive stretching of the frenulum with age, that affected individuals may learn to compensate adequately for their decreased lingual mobility, and that speech therapy may improve articulation problems.^13,23 As such, prophylactic neonatal frenotomy is not necessary. After all, no significant data suggest a causative association between ankyloglossia and articulation problems.^4,23 Chinnadurai and colleagues²³ performed a systematic review of 15 studies (2 randomized controlled trials, 2 cohort studies, and 11 case series) that reported frenotomy for infants with ankyloglossia on feeding, speech, and social outcomes. The authors found that the existing data are insufficient for assessing the effects of frenotomy on non-breastfeeding outcomes that may be associated with ankyloglossia. Webb and colleagues⁴ performed a systematic review of 20 studies (15 observational studies and 5 randomized controlled trials) that reported frenotomy for infants with ankyloglossia on breastfeeding and speech outcomes. They found insufficient data to suggest a causative association between ankyloglossia and speech articulation problems. Hence physicians should recognize this common and often benign condition in infancy and be familiar with noninvasive inteventions to recommend to the parents.

Alexander K. C. Leung, MD, is a clinical professor of pediatrics at the University of Calgary and a pediatric consultant at the Alberta Children’s Hospital in Calgary, Alberta, Canada.

Amy A. M. Leung, OD, is a medical student at the University of Alberta, in Edmonton, Alberta, Canada.

Kam-Lun Ellis Hon, MD, is a professor of pediatrics at the Chinese University of Hong Kong.

REFERENCES

1. Ingram J, Johnson D, Copeland M, Churchill C, Taylor H, Emond A. The development of a tongue assessment tool to assist with tongue-tie identification [published online ahead of print April 15, 2015]. Arch Dis Child Fetal Neonatal Ed. doi:10.1136/archdischild-2014-307503.

2. Leung AKC. Ankyloglossia. In: Leung AKC, ed. Common Problems in Ambulatory Pediatrics: Specific Clinical Problems. Vol 2. New York, NY: Nova Science Publishers; 2011:125-128.

3. Srinivasan B, Chitharanjan AB. Skeletal and dental characteristics in subjects with ankyloglossia. Prog Orthod. 2013;14:44.

4. Webb AN, Hao W, Hong P. The effect of tongue-tie division on breastfeeding and speech articulation: a systematic review. Int J Pediatr Otorhinolaryngol. 2013;77(5):635-646.

5. Rowen-Legg A; Canadian Paediatric Society Community Paediatrics Committee. Ankyloglossia and breastfeeding. Paediatr Child Health. 2015;20(4):209-213.

6. Klockars T. Familial ankyloglossia (tongue-tie). Int J Pediatr Otorhinolaryngol. 2007;71(8):1321-1324.

7. Lalakea ML, Messner AH. Ankyloglossia: does it matter? Pediatr Clin North Am. 2003;50(2):381-397.

8. Kupietzky A, Botzer E. Ankyloglossia in the infant and young child: clinical suggestions for diagnosis and management. Pediatr Dent. 2005;27(1):40-46.

9. Suter VGA, Bornstein MM. Ankyloglossia: facts and myths in diagnosis and treatment. J Periodontol. 2009;80(8):1204-1219.

10. Acevedo AC, da Fonseca JAC, Grinham J, et al. Autosomal-dominant ankyloglossia and tooth number anomalies. J Dent Res. 2010;89(2):128-132.

11. Kantaputra PN, Paramee M, Kaewkhampa A, et al. Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations. J Dent Res. 2011;90(4):450-455.

12. Dollberg S, Botzer E, Grunis E, Mimouni FB. Immediate nipple pain relief after frenotomy in breast-fed infants with ankyloglossia: a randomized, prospective study. J Pediatr Surg. 2006;41(9):1598-1600.

13. Isaacson GC. Ankyloglossia (tongue-tie) in infants and children. UpToDate. http://www.uptodate.com/contents/ankyloglossia-tongue-tie-in-infants-and-children. Updated June 1, 2014. Accessed June 9, 2015.

14. Geddes DT, Langton DB, Gollow I, Jacobs LA, Hartmann PE, Simmer K. Frenulotomy for breastfeeding infants with ankyloglossia: effect on milk removal and sucking mechanism as imaged by ultrasound. Pediatrics. 2008;122(1):e188-e194.

15. Karabulut R, Sönmez K, Türkyilmaz Z, et al. Ankyloglossia and effects on breast-feeding, speech problems and mechanical/social issues in children. B-ENT. 2008;4(2):81-85.

16. Segal LM, Stephenson R, Dawes M, Feldman P. Prevalence, diagnosis, and treatment of ankyloglossia: methodologic review. Can Fam Physician. 2007;53(6):1027-1033.

17. Francis DO, Krishnaswami S, McPheeters M. Treatment of ankyloglossia and breastfeeding outcomes: a systematic review. Pediatrics. 2015;135(6):e1458-e1466.

18. Hazelbaker AK. Tongue-Tie: Morphogenesis, Impact, Assessment and Treatment. Columbus, OH: Aidan and Eva Press: 2010.

19. Madlon-Kay DJ, Ricke LA, Baker NJ, DeFor TA. Case series of 148 tongue-tied newborn babies evaluated with the assessment tool for lingual frenulum function. Midwifery. 2008;24(3):353-357.

20. Kotlow LA. Ankyloglossia (tongue-tie): a diagnostic and treatment quandary. Quintessence Int. 1999;30(4):259-262.

21. Power RF, Murphy JF. Tongue-tie and frenotomy in infants with breastfeeding difficulties: achieving a balance. Arch Dis Child. 2015;100(5):489-494.

22. Bowley DM, Arul GS. Fifteen-minute consultation: the infant with a tongue tie. Arch Dis Child Educ Pract Ed. 2014;99(4):127-129.

23. Chinnadurai S, Francis DO, Epstein RA, Morad A, Kohanim S, McPheeters M. Treatment of ankyloglossia for reasons other than breastfeeding: a systematic review. Pediatrics. 2015;135(6):e1467-e1474.