CONGENITAL ETIOLOGIES OF VOICE DISORDERS

CONGENITAL ETIOLOGIES

Congenital anomalies of the larynx are characterized by three groups of symptoms: (1) respiratorydifficulties due to airway obstruction, (2) hoarseness or a weak or aphonic cry, and (3) dysphagia.

I. Congenital mass-size lesions of the larynx

A. Congenital subglottic hemangiomas

It appear in children as large, purplish-red, sessile tumors that tend to be subglottic. These lesions are relatively rare, but when they do occur they are usually curable. The presence of congenital hemangiomas in the trachea may cause episodes of airway obstruction in infants. These tumors may also, upon occasion, extend submucosally into other regions of the larynx. Although hemangiomas are thought to be congenital, symptoms may not appear until 2 to 3 months following birth, often following the infant's first upper respiratory tract infection. The usual course of development is for the tumor to enlarge for 6 to 12 months and then to spontaneously regress. Laryngeal hemangiomas may also be found in adults.

1.Symptoms: Some Infants with subglottic hemangiomas are asymptomatic becauee the lesion does not affect vocal fold vibra­tion and does not obstruct the airway. In other cases, infants are asymptomatic only when they are held upright, with symptoms appearing as they are placed in a reclining position.

a.       Inspiratory stridor, sometimes becoming biphasic, is the most

common presenting problem.

b.      Dyspnea and cyanosis may occur if airway obstruction becomes more severe.

c.       Hoarseness may appear occasionally, but since the vocal folds

are usually not involved, the cry is usually normal.

d.      Excessive coughing is common,

e.       Dysphagia may occur

f.       Approximately 50 percent of patients with congenital sub­glottic hemangiomas have cutaneous hemangiomas as well

2. Endoscopic findings: Since congenital laryngeal hemangiomas are usually subglottic they are not easily diagnosed with laryn­goscopy (unless the patient is anesthetized); however, hemangiomas can be visualized using endoscopy. Congenital subglottic hemangiomas are large, sessile masses that are generally found subgiottally in the space between the true vocal folds and the lower edge of the cricoid cartilage, A frequent characteristic of this type of lesion is a reduction of the cross-sectional area of the trachea by the mass, which projects from the lateral wall and into the lumen opening of the trachea. Since subglottic hemangiomas are usually cavernous, they may fluctuate in size as the vascular channels vary in degree of blood engorgement, thus causing a related fluctuation in severity of symptoms. The lesions may have the color of normal mucosa or they may be purple, blue, or red, depending upon vascularity.

3. Medicosurgical management: Tracheostomy may be required if the hemangioma becomes large enough to obstruct the airway, as it does in 30 to 50 percent of cases [3,311. Because congenital subglottic hemangiomas usually regress spontaneously , the use of surgery or radiation is generally delayed or avoided if at all possible. In the event that the tumor does not spontaneously regress, the following medicosurgical procedures for treatment or removal of the lesion may be used:

a)      Low-dose radiation therapy may be used; however, there is the possibility of a carcinogenic effect on thyroid tissue

b)      Surgical excision is reserved for those patients whose heman­giomas have either enlarged or failed to show signs of re­gression by the age of 2 years

c)       Cryosurgery

d)      Laser surgery

e)      Steroid therapy

4. Voice therapy management

Since congenital laryngeal heman­giomas are usually subglottic, the vocal folds are not typically involved, and, as a result, the infant's cry is usually unaffected. Persistent hemangiomas in children, however, may enlarge suf­ficiently to affect vocal fold mass or movement, which can result in a hoarse voice quality. Voice therapy is usually not indicated as a primary treatment for patients with hemangiomas, butvoitt therapy procedures may be required to eliminate-any persistent hoarseness following medicosurgical removal of the tumor.

B. Congenital laryngeal papilloma (papillomatosis)

It is the most common laryngeal growth found in children. Although laryngeal papilloma has been found in the neonate, the most common age range of children who present with the tumor is 6 months to 6 years 110; the tumor may on rare occasions appear in adults. Congenital laryngeal papiloma appears to be hormonally dependent because the juvenile fona of the disease usually resolves as a patient approaches puberty, with an even further decrease in recurrence of the tumor following pu­berty; and on those occasions when papilloma appears in adult females, the tumor spontaneously regresses during pregnancy.

The juvenile form of laryngeal papilloma usually begins as a benign epithelial tumor that appears at the anterior portion of the vocal folds and then spreads across the laryngeal epithelium to include, either singly or in combination, the aryepiglottic folds, the ventricular folds, and various subglottic regions (Fig. 6-1). Although papillomas can be removed by medicosurgical methods, they frequently recur after being removed, sometimes in as short a time as 2 weeks. Because the rate of growth of the tumor is often very rapid, papillo­mas must be monitored carefully to prevent airway obstruction.

1. Etiology: This wart-like growth of the larynx and tracheo­bronchial tree is thought to be caused by a DNA virus of the papova group. This virus tends to be specific to the laryngeal region and appears to be unrelated to other types of papilloma that are found in the nose, mouth, and paranasal sinuses

2. Symptoms

a.       Voice quality is hoarse if the papilloma involves the vocal folds.

b.      Aphonia may result if vocal fold involvement is severe.

c.       Respiratory stridor is common.

d.      Dyspnea may occur.

3. Laryngoscopic findings

            Laryngeal papillomas arise from the anterior part of the larynx and may spread to involve supraglottic and subglottic regions. The lesions rarely arise from the posterior part of the larynx. In appearance the lesions are sessile or pedunculated and exhibit numerous wart like papillae. They may resemble a raspberry or a small grape like cluster and are pale, pink or red in color.

4. Medicosugical management

a.       Ultrasound

b.      Cryosurgery

c.       Laser surgery

d.      Interferon injection

4. Voice therapy management

Since the primary treatment of laryngeal papilloma is medicosurgical, voice therapy is indicated only if hoarseness persists following surgery which occurs in approximately 20 percent of cases. Persistent hoarseness may result from surgery, which leaves vocal folds with roughened free margin. Under no conditions should a patient be given voice therapy to reduce the hyperfunction that may result from the presence of the lesions on the vocal folds.

   II.            Congenital structural anomalies of larynx

A.   Laryngomalacia

It is the most common congenital laryngeal anomaly in which symptoms appear during infancy and is the cause of 75 percent of cases of congenital stridor. It is characterised by excessive flaccidity of the supraglottic larynx, which is accompanied by inspiratory stridor. The prognosis for spontaneous recovery in 12 to 18 months is good.

1.      Etiology: laryngomalacia is caused by insufficient or delayed calcium deposition in infants, which results in excessive flaccidity of the cartilaginous superstructrure of the larynx. The lack of calcium provides inadequate support for the cartilaginous epiglottis, which consequently collapses over the glottis during inspiration. A reduction of calcium may also be present in the tracheal cartilages.

2.      Symptoms: The symptoms of laryngomalacia are usually present at birth, but in 30 percent of cases the symptoms go unnoticed until several weeks after the infant hit left the hospital. The following are the symptoms associated with this congenital laryngeal anomaly:

a.       The primary symptom is a noisy inspiratory stridor that "sounds lake 'crowing.' In extreme cases,inspiration may sound like a stridorous staccato flutter. Stridor may be accompanied by suprasternal and intercostal retraction dur­ing inspiration.

b.      Because supine or feeding positions frequently allow the flac­cid epiglottis to block the   airway, infants in these positions may exhibit dyspnea or cyanosis.

c.       The cry is normal.

3.              Laryngoscopy findings: Because inspiratory stndor so com­monly accompanies laryngomalacia, thereby making the diagnosis clear, direct laryngoscopy is deferred or omitted in most cases. If laryngoscopy is performed, however examination will reveal an omega-shaped epiglottis that is collapsed over the glottis during the inspiration. The aryepiglottic folds are in close approximation to each other and are usually sucked into the glottis during inspiration and blown away from the glottis on expiration. If the larynpscope is passed under the epiglottis, the stridor usually decreases or ceases.

4.              Medicosurgical management: Infants with severe cases of laryngomalacia frequently require observation in the hospital, although they are usually able to be cared for at home. Dyspnea can be eliminated by placing the child in the prone position. Hav­ing the infant pause frequently during feeding to take a breath is also helpful. Intubation or tracheostomy is rarely required.

5.      Voice therapy management: Because the vocal folds are unaffected by laryngomalacia, the voice is asymptomatic and re­quires no voice therapy management. In severe cases in which a tracheostomy is required and complete remission of symptoms extends beyond 12 to 18 months, the child's development of ex­pressive language skills should be carefully monitored. Alterna­tive forms of communication (e.g., gestural and augmentative systems) may be temporarily required until the symptoms have completely regressed and the tracheostomy has been closed, thus allowing the production of voice.

B.Cri-du-chat syndrome

It is so named because of the presence of a char­acteristic weak, wailing cry like that of a kitten. The larynx has the identical appearance of laryngomalacia.

1.              Etiology: Cri-du-chat syndrome is caused by the partial deletion of a number 5, group B chromosome.

2.              Symptoms: In addition to the distinctive, high-pitched, kitten-like cry found in infants and the weak, high-pitched voice accom­panied by vocal fold aperiodicity in older children, the syndrome of cri-du-chat is also characterized by the following distinctive combination of features.

a.       Severe mental retardation

b.      Beak-like profile with a micro gnathic (undersized) jaw

c.       Microcephaly (small-sized head)

d.      Hypotonia

e.       Hypertelorism (widely spaced eyes)

f.       Antimongolold palpebral fissures

g.      Eplcanthal folds (a vertical fold of skin on either side of the nose)

h.      Strabismua (asymmetrical eye movement)

i.        Medial oral clefts

j.        Various visceral anomalies

k.      Severe to moderate articulation delay

l.                  Language delay.

3.      Laryngoscopy findings:

 Examination reveals a larynx that looks identical to the larynx in cases of laryngomalacia. The epiglottis is omega-shaped and collapsed over the glottis. The aryepiglottic folds are in close approximation to each other and are sucked into the glottis during inspiration and blown away during expiration.

4.      Medlcosurglcal management for patients with cri-du-chat syn­drome focuses mainly on their failure to thrive at an early age. No specific medicosurgical techniques are required for manage­ment of the patient's voice.

5.      Voice therapy management: Spectrographic analysis reveals that the cry and speaking voice of patients with cri-du-chat syn­drome are typically weak, high-pitched, and accompanied by vocal fold aperiodicity. Although the literature regarding cri-du-chat syndrome has characterized patients with the syndromes as having severely limited cognitive and physical abilities, recent reports tend to present a more positive and optimistic view of the communicative abilities of cri-du-chat individuals. Patients who have sufficiently high cognitive abilities should be given voice therapy that is directed at reduction of the patient's too high habitual pitch level. Although re­duction of habitual pitch level allows limited improvement of the patient's intelligibility, most patients with cri-du-chat syndrome make greater gains in overall communicative ability if speech therapy focuses on a program of simultaneous manual and oral expression, with major emphasis on improving intelligibility through heightened articulation skills.

C.  Congenital laryngeal webs and laryngeal atresia

It represent varying degrees of laryngeal occlusion that are caused by webs of connective tissue in subglottic, glottic, and supraglottlc regions (Fig. 6-3). If the webbed tissue completely occludes the larynx at birth (congenital laryngeal atresia), immediate action must be taken to provide an airway or the infant will die. Congenital webs of the larynx represent lesser degrees of laryngeal atresia and have negative effects on both respiration and phonation.

1.      Etiology: Laryngeal atresia/webs result from a failure of the vo­cal fold primordia (embryologic tissue) to partially or completely separate during the first trimester of embryologic development.

2.      Symptoms: Symptoms associated with laryngeal webs vary depending upon the location and the extent of the opening in the web. Laryngeal webs at any level in the larynx (subglottic, glottic, or supraglottis may have an effect on respiration, depending upon the extent of the opening in the web. The following phonatory and respiratory symptoms are typical); associated with laryngeal webs:

        i.            Phonatory symptoms

      ii.            The voice may be asymptomatic if the web is not located at
 the level of the glottis.

    iii.            The effect that an interglottic laryngeal web has on vocal pitch varies with the extent of the web. Small webs located at the anterior commissure have little, if any, effect on vocal pitch Larger webs, which involve greater degrees of the vocal folds, can cause vocal pitch elevation. Elevation of pitch occurs because the effective vibrating portion of the vocal folds is shortened due to the presence of the web.

    iv.            Some infants present a high-pitched cry at birth, which generally indicates laryngeal webbing Some small laryn­geal webs "at the anterior commissure go unnoticed for years, only to be discovered when the patient's voice fails to lower following puberty.

      v.            If the web causes asynchronous vocal fold vibration, the voice may be hoarse.

    vi.            Aphonia will result if the web is extensive. Aphonia is always accompanied by severe stridor and dyspnea.

b.Respiratory symptoms 130]

        i.            Stridor

      ii.            Cyanosis

    iii.            Restlessness or other signs of respiratory distress in the infant

3. Laryngoscopy findings: Inspection of the larynx reveals a web of connective tissue that partially occludes the larynx. Laryngeal webs at the level of the glottis are located at the anterior commis­sure and grow posteriorly. The thickness of the laryngeal web varies, with some webs being extremely thick and others appear­ing thin and transparent.

4. Medicosurglcal management:

a. Dilation of the web: Dilation of the opening in the web maybe attempted by the laryngologist several times before more de­finitive treatment is attempted. Dilations can be performed on young children without the use of anesthesia or with the use of small amounts of topical anesthetics.

b. Surgical excision of the web: If repeated dilation fails to cre­ate a sufficient opening in the web, surgical removal of the web may be performed. After the laryngeal web has been removed with laryngofissure or endoscopically, a keel is usually placed between the vocal folds and held in place by a nylon cord passed through the cricothyroid and thyrohyoid muscles. The keel is kept in place for a period of several weeks to prevent the recurrence of webbing. The patient must re­main on vocal rest while the keel is in place, because the presence of the keel prevents vocal fold vibration.

5. Voice therapy management: Since the primary treatment of con­genital laryngeal webs is medico surgical, voice therapy to reduce pitch and hoarseness is contraindicated. If medicosurgical man­agement leaves the patient with a roughened free margin on the vocal folds, voice therapy for the elimination of any postsurgical breathiness and hoarseness should then be initiated.

D.  Congenital subglottic stenosis

It refers to a narrowing of the airway between the glottis and the first tracheal ring. Subglottic stenosis is the third most common congenital disorder of the larynx, although it accounts for only six percent of all congenital laryngeal lesions. It occurs almost twice as often in females.

1.      Etiology: Subglottic stenosis can result from;

a.       Thickening of subglottic tissue and, occasionally, the vocal folds

b.      Cartilaginous narrowing of the cricoid cartilage in an anterior to posterior direction, leaving a small posterior opening

2. Symptoms of congenital subglottic stenosis may be intermittent and are as follows:

a.       Inhalatory and exhalatory stridor, with or without an accom­panying cyanosis, is present in severe cases.

b.      Less severe cases of stenosis may masquerade as recurrent episodes of croup

c.       Phonation is generally normal, although it may be reduced in intensity if the stenosis severely limits airflow.

 3.Laryngoscopic findings: The following may be observed in the subglottic region of the larynx

a.       Soft tissue stenosis appearing as concentric narrowing or

b.      bilateral subglottic swelling

c.       Cartilaginous stenosis appearing anteriorly with a small pos­terior opening

4.  Medicosurglcal management: Mild stenoses generally resolve with growth of the larynx. Repeated, gentle endoscopic dilation may be performed by the laryngologist if a tracheostomy is already present. Tracheostomy may be required in as many as 80 percent of cases, although some authors report a less frequent need to perform a tracheostomy on these patients. Surgical reduction of the stenosis may be performed if laryngeal growth is insufficient for resolving the stenosis.

5. Voice therapy management: The voice is usually unaffected by congenital subglottic stenosis because the vocal folds are not involved.

E. Congenital laryngeal cysts

These are small fluid-filled sacs that arc found in the larynx, primarily in the ventricle. Congenital laryngeal cysts are related to congenital laryngoceles and have a similar origin. The primary difference between a cyst and a laryngocele is that a cyst docs not have an opening directly into the interior of the larynx.

1.      Etiology : a laryngeal cyst results from a congenital saccule that progressively enlarges due to an accumulation of secretion from glands in the submucosa of the saccule.

2.      Symptoms: Laryngeal cysts may be asymptomatic unless they enlarge sufficiently to displace the true and false vocal folds and obstruct the supraglottic region of the larynx. Enlarged laryngeal cysts will result in:

a.       Hoarseness if the true vocal folds are displaced

b.      Inspiratory stridor if sufficient airway obstruction occurs

3. Laryngoscopy findings: Laryngeal cysts are located primarily in the ventricle and appear as marked swellings of the false vocal folds, aryepiglottic folds, or arytenoids.

4. Medicosurgical management: Laryngologists find that aspi­ration of laryngeal cysts is useful only for the purpose of diagno­sis. Surgical removal of the cyst wall is generally required for cure

5. Voice therapy management: until medicosurgical therapy a completed, voice therapy for hoarseness is not indicated. Al­though removal of the cyst generally results in improved voice quality, voice therapy for residual hoarseness may be required.

F.  Laryngeal cleft

A laryngeal cleft is a vertical opening between the larynx (cricoid cartilage) and the esophagus. The cleft may be lim­ited to the region of the larynx or it may form a complete laryngotracheoesophageal cleft.