- Email: [email protected]
Communicative Disorders: The First Year of Life
CARE OF THE INFANT
0031-3955/94 $0.00 + .20
COMMUNICATIVE DISORDERS The First Year of Life Robert J. Ruben, MD, FAAP, FACS
!.
Human communication is necessary for the infant's life and the fulfillment of the potential for life. Sensory input has been recognized as necessary for survival since the observation in the 1860s by Abraham Jacobi that sensory deprivation of neonates substantially increased morbidity. In this century, the need for early sensory input, during the "critical period," for the optimal development of the person's ability to communicate has been articulated for language by Lenneberg23 and, in a broader context, by Wilson.41 Disorders of communication* have high incidence and prevalence in the fetus, neonate, and infant, and optimal care is dependent on early recognition and intervention. Today, it is fortunate that there are techniques for diagnosis and effective interventions. Human communication and its disorders have three interrelated domains: the reception of sensory inputs which carry information-the receptive aspect of communication; motoric expression of the communication-the expressive aspect of communication; and the central nervous system's processing of these sensory and motor functions which formulates the information into language-the linguistic portion of communi*This article concerns auditory communication as a model system. A substantial body of knowledge exists in the area of visual linguistic communication, and many of the principles of early detection and amelioration are applicable to visually based communication. A lesser amount of information exists concerning tactile-based communication, and still less information exists concerning the use of olfaction, gustation, or proprioperception for linguist communication.
From the Department of Otolaryngology, Albert Einstein College of Medicine; and Montefiore Medical Center, Bronx, New York
PEDIATRIC CLINICS OF NORTH AMERICA VOLUME 41 • NUMBER 5 • OCTOBER 1994
1035
1036
RUBEN
cation. These three areas are interrelated, and deficency in anyone impairs the communication ability of the person. If not recognized early and ameliorated, the deficiency can result in a permanent communication disability. Language, the measure of the person's communication ability, is routinely assessed in infants by a number of different instruments. 3,6 Hearing deficiencies in infants occur in different ways. A common form is the reduction in the quantity of sound that is heard, that is, the volume is decreased. This type of loss, when it becomes modestly large, degrades and distorts the quality of the sound as it is processed by the infant. The quality of sound, which is processed by the central nervous system, can be altered by other physiologic and anatomic defects, but the quality of the auditory stimulus is dependent upon the source of the stimulus. The effect of the maternal auditory stimulus, the mother's use of language, will determine the language that the child learns and the phonemes that the child will be able to recognize. The linguistic structure is determined by the type of language to which the infant is exposed.35 If the linguistic input is defective, this can result in defective development of the child's language. 39 Auditory stimuli, voice and speech, are dominant modes of expressing communication, and defects in the voice speech tract result in communication disorders. Diminished expressive abilities for an infant diminish the infant's ability to express herself or himself to others, and consequently change the way in which others will communicate with the infant. The infant who cannot cry or whose cry is abnormal will engender different responses from those with a normal cry. The deficiency in expressive language, in tum, modifies the receptive environment that affects the development of the child's language. This explains why children without voice, an expressive disease, for the first part of their lives have deficiencies in their receptive language also. 19 The prevalence of communication disorders (hearing, voice, speech, and language) in the infant is not known. The incidence is dependent upon what is defined as a disease and is further modified by the realization that different types of sensory abnormalities, either expressive or receptive, will vary in their effect in different children. For example, a mild hearing loss will have more of an effect on language in a mentally retarded child than in a infant who has inadequate linguistic stimulation. 39 An estimate of incidence would be based on the following. The incidence of severe to profound hearing loss is about 1 in 1000, of less than severe hearing loss from 2 to 4 per 1000, not including the loss from otitis media with effusion (OME). Added to these are the incidence of infants with lesions of the upper airway which require tracheotomy in about 1 in 1000. Additionally, there are those children with cleft palates, which have an incidence of 1.4 in 1000, speech disorders secondary to neuromuscular disorders (e.g., cerebral palsy) 3 in 1000, and other voicespeech pathologies 3 in 1000. These combined give an estimate of an order of magnitude of 11.4 to 13.4 per 1000, or 1% of all infants will have a substantial expressive or receptive communication disorder.
COMMUNICATIVE DISORDERS
1037
Most infants will have at least one episode of otitis media in their first year of lifep and 30% of these will have OME that will be present for more than 2 weeks. This group, about 20% to 30% of the infant population, because of the hearing loss associated with OME, is at risk for a decreased receptive disorder, a variable conductive hearing loss. How many of these fluctuating hearing losses from OME will be significant to present and future communication skills of the infant is not known. There are children who have an increased susceptibility to the fluctuating loss of OME, including those with mental retardation, intrinsic language disorders, other sensory deficits (e.g., visual impairment), language deprivation, and expressive disorders. An estimate of the prevalence of communication disorders in the first 12 months of life is greater than 1% and may be as high as 5% to 10%, depending on what is defined as a communication disorder.
RECEPTIVE DISORDERS
Hearing disorders occur from pathology of the different parts of the hearing mechanism. Those disorders that affect the transmission of sound from the pinna to the cochlea are called conductive hearing loss. The term "conductive" means that if the cochlea is stimulated by air, the hearing is reduced, but if the cochlea is stimulated by vibrating the skull, the hearing is better than when it was stimulated by airborne sound. The sound is transmitted via bone conduction, thus the term conductive hearing loss. Conductive hearing losses are the most common form of the receptive communicative disorders of the first year of life. Conductive hearing losses, which are principally the decrease in volume, or quantity, are caused by different pathologies. The most common is the loss associated with otitis media, either acute or OME. These losses vary from very little to those that necessitate a 40 db (IOO-fold) increase in volume, or quantity, to achieve normal threshold. Some infants have a greater susceptibility for otitis media acute or OME. These include children with maxillofacial abnormalities, the most common being infants with cleft palate but also those with submucosal clefts of the palate and skull base malformations (e.g., Crouzon's disease, Treacher-Collins sequence, and others). Additionally, infants with maxillofacial abnormalities may have malformations of the external ear, the pinna, and the external ear canal or malformation of the middle ear cleft (abnormal, missing, or fixed tympanic membrane or middle ear ossicles), which results in a fixed conductive loss of 40 db or greater. Native American infants have a very high incidence of otitis media; this is due, in some, to the high incidence of submucosal clefts of the palate. The submucosal clefts of the palate are associated with bifid uvulae. Infants with bifid uvula are at increased risk for OME and the associated hearing loss. The prevalence of otitis media is greatly increased in children who have immune defects. This is seen in children with Kartagener's syndrome, AIDS, DiGeorge's syndrome, and others. There is a group of
1038
RUBEN
infants that have been defined as otitis prone. These infants consist of a heterogenous group of different immune deficiencies as expressed by either B-cell and / or T-cell aberrations. There are also data that suggest that breast-fed infants will be less prone to otitis than infants who are bottle fed. Correlation has been found with exposure to tobacco; some of those who are exposed may have a higher prevalence of otitis than those who are not exposed. Poverty is, in this author's view, another predisposing factor to an increased incidence of otitis. This comes about from a number of factors including malnutrition, lack of medical care, noncompliance with medical care, and neglect. Communication disorders in the poor have been found to be associated, in part, to asocial behavior .1, 4, 31 Pathology of the cochlea results in sensorineural hearing loss (SNHL), a term that reflects the usually dual nature of the disorder. Pathologies of the inner ear will involve the hair cells, the sensory portion of the term, which transduce the auditory signal to a biologic signal that is then transmitted to the auditory nerve, the neural portion of the term, and carried to the central nervous system. SNHL losses vary from minimal losses at one frequency to a total loss of hearing. They can occur symmetrically or asymmetrically in both ears or only in one ear. SNHL is found in a number of conditions noted in the proposed high-risk registry (Table 1). Hereditary hearing loss is the most common form of SHNL in the first year of life. Hereditary loss may be syndromic, such as Waardenburg's disorder, or nonsyndromic. Studies have shown that most of the hereditary SNHL are nonsyndromic and are recognized as genetically based because of consanguinity or family history. The genetic loss may be total, partial, asymmetrical, or progressive during the first year of life. SNHL will occur in about 10% to 15% of patients with bacterial meningitis and is markedly reduced with the use of dexamethasone.lO,22 SNHL are found to be increased in infants who are less than 1500 grams; have had an exchange transfusion for kernicterus; suffered from perinatal asphyxia; had persistent pulmonary hypertension; were on prolonged ventilation; have positive titers for rubella, cytomegalovirus, syphilis, or toxoplasmosis; have had ototoxic medication; or are syndromic. SNHL occurs after the perinatal period, and the infant must be monitored for the possibility of a progressive or an acquired hearing loss. The common causes of progressive and acquired loss after the first month of life are genetic, meningitis, and head trauma. Head trauma resulting in SHNL in the infant may present much differently from in the older child, in which the hearing loss is suspected after the signs of a skull base fracture, blood and/or cerebral spinal fluid discharging from the external auditory canal, hemotympanum, or radiologic evidence of skull base fracture. The infant instead may have what is believed to be a modest head injury and have none of the associated signs of skull base fracture. Case History
A 3-month-old infant was hit in the head by a car seat that sprang back. The child was not unconscious, and there was no bleeding from the ear. The
COMMUNICATIVE DISORDERS
1039
Table 1. JOINT COMMISSION ON INFANT HEARING 1994 POSITION STATEMENT" INDICATORS Indicators associated with sensorineural and/or conductive hearing loss: For use when universal screening is not available (Neonates: birth to 28 days): Family history of hereditary, childhood sensorineural hearing loss. In utero infection such as cytomegalovirus, rubella, syphilis, herpes, and toxoplasmosis. Craniofacial anomalies including those with morphologic abnormalities of the pinna and ear canal. Birth weight less than 1500 grams (3.3 Ibs). Hyperbilirubinemia at a serum level requiring exchange transfusion. Ototoxic medications including but not limited to the aminoglycosides used in multiple courses or in combination with loop diuretics. Bacterial meningitis. Severe depression at birth with Apgar scores of 0 to 4 at 1 minute or 0 to 6 at 5 minutes. Prolonged mechanical ventilation lasting 5 days or longer (e.g., persistent pulmonary hypertension). Stigmata or other findings associated with a syndrome known to include a sensorineural and/or a conductive hearing loss. Indicators associated with sensorineural and/or conductive hearing loss: Health conditions which may develop and require rescreening (Infants, 29 days to 2 years): ParenVcaregiver concern regarding hearing, speech, language and/or developmental delay. Bacterial meningitis and other infections associated with sensorineural hearing loss. Head trauma associated with loss of consciousness or skull fracture. Stigmata or other findings associated with a syndrome known to include a sensorineural and/or a conductive hearing loss. Ototoxic medications including but not limited to chemotherapeutic agents or aminoglycosides used in multiple courses or in combination with loop diuretics. Recurrent or perSistent otitis media with effusion for at least 3 months. Indicators associated with sensorineural and/or conductive hearing loss: Indicators requiring periodic monitoring of hearing (Infant: 29 days to 3 years). Some newborns and infants may pass initial hearing screening but will require periodic monitoring of hearing to detect delayed onset sensorineural, and/or conductive hearing loss. Infants with these indicators require hearing evaluation at least every 6 months until age 3 years and at appropriate intervals thereafter. Indicators associated with delayed onset sensorineural hearing loss include: Family history of hereditary childhood hearing loss. History of in utero infection such as cytomegalovirus, rubella, syphilis, herpes, or toxoplasmosis. Neurofibromatosis type II, and neurodegenerative disorders. Persistent pulmonary hypertension in the newborn period. Indicators associated with conductive hearing loss include: Recurrent or persistent otitis media with effusion. Anatomic deformities and other disorders which affect eustachian tube function. Neurodegenerative disorders. ·Preliminary draft as of August 1994.
parent noted that the child had progressive hearing loss over the next few weeks, and the child was seen by a number of physicians. The parents, after 4 months, were certain that the child no longer heard. The child was then tested and found to have a bilateral severe SNHL. Special testing was carried out to determine if a perilymph fistula was present.36 The test was positive, and one ear was explored. The stapes was dislocated from the oval window, and there was a large perilymph leak. This was repaired. Some weeks later, the second ear was explored with a similar finding. Unfortunately, the repair did not restore the hearing, and
1040
RUBEN
the infant is a candidate for a cochlear implant. This case is typical of other infants who have had progressive SNHL following modest head trauma without the expected signs of a temporal bone fracture.
The parents' observation of the hearing loss in their infant was the critical factor in making the diagnosis. Unfortunately, in this and in many other cases with a variety of different causes, the parents' observation of a hearing loss is not followed through with definitive testing by the physician. The most important risk criterion for hearing loss in the infant of greater than 1 month age is parental concern or suspicion. The auditory environment of the infant will determine its ability to discriminate the complex sound patterns, or phonemes, which carry the specific language information of speech. Japanese children can distinguish the unique phonemes of Japanese but not those of English and vice versa?1,35 The quality of the linguistic exposure for the first few years of life will in some situations be a determinant of the quality of the child's linguistic ability. The more extreme cases, such as a child raised in linguistic isolation in which there has been little or no linguistic input, result in a severely linguistically handicapped child?, 32, 37 There are many infants who develop in a linguistic environment that is not completely deprived, as in the few isolated children, but in which the language input to the child is markedly deficient. This has been reported to occur in other environments, such as in the rearing of infants in inner city poverty. Many of these infants, however, develop good language notwithstanding the impoverishment of the linguistic input during the first year of life. One study39 showed children who were matched for socioeconomic status and prenatal and perinatal history but who differed in two areas. One group had mothers who used appropriately complex explanatory language with their infants, and the other group had mothers who were found to have impoverished linguistic interaction with their infants. The other area of difference was the presence or absence of OME and the associated fluctuating hearing loss. Of four subgroups (one with no OME and with good language input, one with OME and good language input, one with no OME and poor language input, and one with OME and poor language input), only one group was found at 2 years of age to have poor language. This was the group with both the presence of OME and the poor language input from their mothers during the first year of life. These data suggest a synergistic effect of the poor quality of the auditory input, the poor language of the mother, and the quantitative diminution of hearing, the OME, during the first year of life, resulting in the poor language outcome at 2 years of age. The possibility of greater or lesser linguistic deprivation with or without other receptive losses must be considered as a potential for communication disorder in the first 12 months of life. EXPRESSIVE DISORDERS
Expressive disorders, the diseases and disorders of the voice, or speech tract, of the first 12 months of life are usually more obvious than
COMMUNICATIVE DISORDERS
1041
the receptive disorders. Voice and speech are different entities. Voice is the vibrating air column that is dependent upon the ability to move air through the trachea and the larynx. Speech is the modulation of this vibrating air column by the hypopharynx, oropharynx, nasopharynx, nasal cavity, mouth, tongue, teeth, and lips. Voice is dependent upon the infant's ability to produce a moving column of air during exhalation and to modify that column by the neuromuscular action of the vocal folds (vocal cords) and other actions of the larynx. Diseases of the lungs, diaphragm, and trachea that diminish the amount and force of expiration will cause a diminution in the intensity, pitch, or duration of the voice. These abnormalities become apparent in the nature of the infant's cry. They can be heard and quantified with the use of a sound spectrogram.18,20,29 Voice disorders in infancy are associated with different disease states. The most severe cases are those infants who are totally voiceless, or aphonic, for a shorter or longer period of time. All infants who are intubated have an expressive disorder, because they are unable to generate voice while their larynx is filled with an endotracheal tube. The endotracheal tube will result in changes of the endolarynx that will cause the infant's voice, after intubation, to be either diminished or distorted, for example, a hoarse cry. These pathologies consist of edema of the vocal fold, granulation tissue in the posterior commissure, and occasionally, after some weeks postintubation, the development of mucosal cysts or subglottic stenosis. A hoarse or diminished cry following endotracheal intubation is present in almost all infants. The infant who continues or becomes better and then develops abnormal voicing days or weeks following extubation may have an ongoing process in the larynx, which may be a mucosal cyst and may be a sign of the development of subglottic stenosis. Young infants who have tracheostomies are usually without voice, because the tracheotomy tube in smaller infants fills the airway so that no or little air can enter the glottis to provide an air column for speech. As the child grows, there can be some escape of air around the tracheotomy tube, so that voice can be generated. Infants with chronic tracheostomy can be aided by the use of one-way valves such as the Passy-Muir (Irvine, CA) valve. 14 Tracheotomized infants who have developed voice and then lost it or who would be expected to have voice and do not are often found to have a granuloma on the ventral wall of the trachea immediately proximal to the insertion of the tracheotomy tube. The voice can be restored by removal of this granulation tissue.9 Infants who are avocal or have minimal voicing ability must be provided with a means for expressive communication. Various interventions are successfully used, and the establishment of expressive communication should prevent later expressive language deficiencies. Abnormal voicing in the neonate as evidenced by an abnormal cry indicates either abnormal structure and/ or abnormal neuromuscular control of the larynx. The abnormalities of structure are seen in the various congenital malformations of the larynx including stenosis, webs, and clefts. The abnormal cry is also heard in more subtle malformations
1042
RUBEN
of the larynx, such as those found in the different chromosomal abnormalities such as cri du chat syndrome and others.8, 13,26, 38 The abnormally crying neonate is potentially a child who has a serious neurologic or structural deficiency and must be cared for appropriately. Changes in the cry of an infant are indications of a pathologic process occurring in the voice tract, usually the trachea or the larynx. The changes will be noted as a decrease in volume of the cry and a change in the frequency of the cry. The underlying pathologies are numerous. 5 The most common tumors of the larynx, usually benign, are subglottic hemangioma and papilloma, the latter usually associated with a maternal vaginal condylomata. Vocal cord paresis or paralysis is a common form of neurologic abnormality of the larynx and will present as a change in the cry.16 A bilateral vocal paralysis in the infant is life-threatening, and there is the need to establish a secure airway. The awareness of abnormalities of an infant's "speech" usually does not occur clinically until the end of the first year of life. The neonate's speech is manifested in the repertoire of sounds that the infant produces. The cooing, babbling, and crying are "protospeech." The infant is able to modulate the voicing so as to express pleasure, displeasure, playfulness, and so on. At about the eighth month, many of these expressive sounds become more recognizable as speech. The information and communication content of the protospeech is important.3D Infants who have sensory deprivation from hearing loss show abnormal changes in their prespeech utterances, their protospeech.27 Anatomic abnormalities of the speech tract are apparent at birth. The most common of these is the cleft palate, which occurs in about 1 in 700 births. The neonates with cleft palate have a number of feeding and, in some instances, breathing difficulties. Most, but not all,15 have a high prevalence of OME and the subsequent decrease in hearing from the associated conductive hearing loss. The palatal cleft affects the expressive portion of communication, whereas the OME decreases the receptive component of communication. The combination of both receptive and expressive abnormalities functions synergistically to the infant's communicative detriment. All efforts should be made as soon as possible to diagnose and care for those functions that can be restored, ameliorated, or habilitated. 28 Additional anatomic defects that will cause abnormal speech are bilateral choanal atresia, masses blocking the nasopharynx, and tumors of the tongue or mouth such as lymphangiomas or various cysts. Excisional surgery in the infant of benign tumors of the floor of the mouth can result in substantial lack of oral tissue later in childhood and can be the cause of a marked speech impediment. The most common speech abnormalities in older children are associated with neuromotor dysfunction. These include the dysarthria associated with cerebral palsy, dysfluency disorders (e.g., stuttering), and the different problems of articulation. Many of these diseases are genetic in origin24 and will be noted in the first year of life. The prompt recognition of these abnormalities should result in habilitation which, when commenced early, will be beneficial to the communicative abilities of the patient. The cerebral palsy dysarthria is associated with drooling and
COMMUNICATIVE DISORDERS
1043
other more pronounced swallowing abnormalities. 2 Some of these infants will have associated problems with their upper airway and will aspirate saliva and food. These infants may then require a tracheotomy to prevent the aspiration. This is another situation in which there is a negative synergistic effect of the disease process on the infant's communicative ability. The infant has difficulty with neuromuscular control of the speech mechanism, which of itself, results in severe dysarthria, and then is further handicapped by the placement of a tracheotomy to control aspiration which also decreases or abolishes the infant's ability to voice. The infant is then rendered almost totally mute. These neurologically impaired infants require substantial habilitation so that they may have expressive language to effect meaningful communication with their caretakers. DIAGNOSIS
Receptive disorders can be diagnosed at any age with great precision. A recent reviewl l of techniques has shown that no infant is too young or too sick to have an accurate and precise measure of his or her ability to hear. Tympanometry is a technique to measure the physical characteristics of the tympanic membrane and middle ear, but it does not measure hearing. The tympanogram gives information as to the possibility of a conductive hearing loss. Recording of cochlear emissions gives information concerning the integrity of the hair cells. The lack of cochlear emissions can mean that there is a lack of hair cell activity, the sensory portion of the SNHL. The recording of cochlear emissions in the infant has been suggested as a screening technique.40 Because OME will diminish or abolish the cochlear emission and OME is so prevalent in infants, the use of cochlear emissions as a screen for hearing loss will identify large numbers of false positives and will have a low and costly sensitivity. Auditory brain stem-evoked potentials (ABR) are able to characterize the hearing receptivity at different frequencies and different intensities by recording the responses from the acoustic nerve and the brain stem and giving information concerning the neural portion of a potential SNHL. ABRs are evoked with both air- and bone-conducted stimuli so that conductive hearing losses can be diagnosed in the youngest of infants. It is critical in the child who has a unilateral or bilateral malformation of the outer or middle ear to determine if either cochlea is functioning and if so, how well. This information is necessary so that the proper hearing aid(s) can be promptly fitted. Cortical-evoked potentials are used to determine the receptivity of sound at the cortical level and to assess at the reception of the complex signals which make up speech. During the past decade, behavioral testing of infants has advanced, and it is now routine to behaviorally test infants who are developmentally 6 months of age or older. The technique that is used is called visual reinforced audiometry (VRA)P' 25 which allows a behavioral audiogram
1044
RUBEN
to be obtained on each ear at each frequency, using both air and bone conduction. VRA allows for an accurate and precise evaluation of the infant's hearing. The behavioral information is the most useful, for it directly assesses what the infant is responding to. The diagnosis of the expressive problems is empiric and relies on the observation of the caretaker or the physician. Although there is instrumentation available for the recording and assessment of voice and speech sound, this is not used routinely in the evaluation of infants. This is an area that is developing. Unless an infant is suspected of having a communication disorder, the diagnosis cannot be made even though there are effective diagnostic techniques available. Table 1 lists the risk criteria for receptive disorders, and many of the criteria are applicable to expressive disorders. Caretaker concern is the most critical risk criteria. During the past three decades, there have been innumerable editorials and articles noting that the parent suspected the child had a communication difficulty, usually a hearing loss, and the physician did not think the parent was correct, or that the infant would outgrow the problem, or that it was a developmental variant. Many infants had a substantial delay in diagnosis, and some have been denied prompt treatment which could have ameliorated loss or restored function if the physician had assumed that the parent was probably correct. Any infant whose parents feel that he or she is having some difficulty with either receptive or expressive communication must be promptly and definitively diagnosed. The physician must routinely assess the infant's language development at each well-baby visit. This will allow for early diagnosis and proper care of the various communication disorders that occur in the first year of life. There are a number of paper and pencil instruments that have been developed to screen for communicative disorders. The Early Language Milestone Scale (ELM) developed by Coplan6 has proven to be an effective screening instrument which has been used in a number of different settings. 34 In its newest revision, it also includes a section for speech. Early diagnosis is dependent on both the parents' and the physician's awareness of a problem. It has been suggested33 that public awareness be heightened by the following message appearing on milk cartons, diaper boxes, and baby food containers: The Surgeon General warns that if your child does not have two words other than "mama" or "dada" by his or her first birthday, then he or she may have a hearing loss or other communication disorder. Your child should have a hearing test and other appropriate evaluations, for there are effective treatments that must occur early in life.
References 1. _American Speech and Hearing Association: Task Force Report on Speech Pathology /
Audiology Service Need in Prisons. June 4,1973. 2. Arvedson Jc, Brodsky L (eds): Pediatric Swallowing and Feeding: Assessment and Management. San Diego, Singular Publ. Group, 1993
COMMUNICATIVE DISORDERS
1045
3. Bayley N: The Bayley Scales of Infant Development. San Antonio, Psychological Corp., 1969 4. Burke AE, Crenshaw DA, Green J, et al: Influence of verbal ability on the expression of aggression in physically abused children. J Am Acad Child Adolesc Pyschiatry 28:215218, 1989 5. Cohen SR, Thompson JW, Geller KA, et al: Voice change in the pediatric patient: A differential diagnosis. Ann Otol Rhinol Laryngol92(pt 1):437-443,1983 6. Coplan J, Gleason JR: Quantifying language development from birth to three years using the early language milestone scale. Pediatrics 86:963-971,1990 7. Curtiss SG: A Psycholinguistic Study of a Wild Child. New York, Academic Press, 1977 8. Dejonckere PH: Pathogenesis of voice disorders in childhood. Acta Otorhinolaryngol Belg 38:307-314, 1984 9. Friedberg J: Tracheotomy revision in infants: To facilitate extubation and restore phonation. Int J Pediatr OtorhinolaryngoI13:61-68, 1987 10. Geiman BJ, Smith AL: Dexamethasone and bacterial meningitis: A meta-analysis of randomized controlled trials. West J Med 157:27-31, 1992 11. Gravel JS (ed): Assessing Auditory System Integrity in High-Risk Infants and Young Children. (Seminars in Hearing eds, vol 10.) New York, Thieme Medical Publishers, 1989 12. Gravel JS, Traquina DN: Experience with audiologic assessment of infants and toddlers. Int J Pediatr OtorhinolaryngoI23:59-71, 1992 13. Garvey M, Mutton DE: Sex chromosome aberrations and speech development. Arch Dis Child 48:937-941,1973 14. Gereau SA, Navarro G, Cluterio B, et al: Selection of patients for use of the Passy Muir valve for speech production. Abstracts of the American Society of Pediatric Otolaryngology, 1993, p 50 15. Gereau SA, Stevens D, Bassila M, et al: Endoscopic observations of eustachain tube abnormalities in children with palatal clefts. In Lim DJ, Bluestone CD, Klein JO, et al (eds): Recent Advances in Otitis Media. Philadelphia, B. C. Decker, 1988, pp 60-63 16. Grundfast KM, Harley E: Vocal cord paralysis. Otolaryngol Clin North Am 22:569-597, 1989 17. Haggard M, Hughes E: Screening Childrens's Hearing: A Review of the Literature and the Implications of Otitis Media. (Medical Research Council.) London, Her Majesty's Stationary Office, 1991 18. Hirschberg J, Szende T: Pathological Cry, Stridor, and Cough in Infants: A Clinical Acoustic Study. Budapest, Akademiai Kiad6, 1982 19. Kaslon KW, Stein RE: Chronic pediatric tracheotomy: Assessment and implications for habilitation of voice, speech, and language in young children. Int J Pediatr OtorhinolaryngoI9:165-171,1985 20. Kent RD, Murray AD: Acoustic features of infant vocalic utterances at 3, 6, and 9 months. J Acoust Soc Am 72:353-365,1982 21. KuhI PK, Williams KA, Lacerda F, et al: Linguistic experience alters phonetic perception in infants by 6 months of age. Science 255:606-608,1992 22. Lebel MH, Freij BJ, Syrogiannopoulos GA, et al: Dexamethasone therapy for bacterial meningitis: Results of two double-blind, placebo-controlled trials. N Engl J Med 319:964-971,1988 23. Lenneberg EH: Biological Foundations of Language. New York, Wiley, 1967 24. Ludlow CL, Dooman AG: Genetic aspects of idiopathic speech and language disorders. Otolaryngol Clin North Am 25:979-994,1992 25. Moore JM, Thompson G, Foisom RC: Auditory responsiveness of premature infants using visual reinforcement audiometry (VRA). Ear Hear 13:187-194,1992 26. Mutton DE, Lea J: Chromosome studies of children with specific speech and language delay. Dev Med Child Neurol22:588-594, 1980 27. Oller DK, Eilers RE, Bull DH, et al: Prespeech vocalizations of a deaf infant: A comparison with normal metaphonological development. J Speech Hear Res 28:47-63,1985 28. Peterson-Falzone SJ: Impact of communicative disorders on otolaryngologic care of patients with craniofacial anomalies. Otolaryngol Clin North Am 14:895-915, 1981 29. Raes J, Michelsson K, Dehaen F, et al: Cry analysis in infants with infectious and congenital disorders of the larynx. Int J Pediatr OtorhinolaryngoI4:157-169, 1982
1046
RUBEN
30. Robb MP, Saxman JH: Acoustic observations in young children's non-cry vocalizations. J Acoust Soc Am 83:1876-1882, 1988 31. Rousey CL, Cozad R: Hearing and speech disorders among delinquent children. Corrective Psychiatry and Journal of Social Therapy 12:250-255, 1966 32. Ruben RJ: Auditory deprivation. Auris Nasus Larynx 12(Suppl1):S36-S37, 1985 33. Ruben RJ: Early Identification of Hearing Impairment in Infants and Young Children [editorial]. Int J Pediatr Otorhinolaryngo127:207-213, 1993 34. Ruben RJ: Language screening as a factor in the management of the pediatric otolaryngic patient. Arch Otolaryngol Head Neck Surg 117:1021-1025, 1991 35. Ruben RJ: The ontogeny of human hearing. Acta Otolaryngol Stockh 112:192-196, 1992 36. Ruben RJ, Yankelowitz SM: Spontaneous perilymphatic fistula in children. Am J Otol 10:198-207, 1989 37. Rymer R: A Scientific Tragedy. New York, Harper Collins, 1993 38. Sohner L, Mitchell P: Phonatory and phonetic characteristics of prelinguistic vocal development in cri du chat syndrome. J Commun Disord 24:13-20, 1991 39. Wallace I, Gravel J, Ganon EC, et al: Two year language outcomes as a function of otitis media with effusion and parental linguistic styles. In Lim D, Bluestone C, Klein JO, et al (eds): Proceedings of the Fifth International Symposium of Otitis Media, 1991. Philadelphia, B. C. Decker, 1993, pp 527-530 40. White KR, Behrens TR (eds): The Rhode Island Hearing Assessment Project: Implications for Universal Newborn Hearing Screening, vol 14, no. 1. New York, Thieme Medical Publishers, 1993 41. Wilson EO: Sociobiology: The New SynthesiS. Cambridge, Harvard Univ Press, 1975
Address reprint requests to Robert J. Ruben, MD Department of Otolaryngology Montefiore Medical Center 111 East 210th Street Bronx, NY 10467
0031-3955/94 $0.00 + .20
COMMUNICATIVE DISORDERS The First Year of Life Robert J. Ruben, MD, FAAP, FACS
!.
Human communication is necessary for the infant's life and the fulfillment of the potential for life. Sensory input has been recognized as necessary for survival since the observation in the 1860s by Abraham Jacobi that sensory deprivation of neonates substantially increased morbidity. In this century, the need for early sensory input, during the "critical period," for the optimal development of the person's ability to communicate has been articulated for language by Lenneberg23 and, in a broader context, by Wilson.41 Disorders of communication* have high incidence and prevalence in the fetus, neonate, and infant, and optimal care is dependent on early recognition and intervention. Today, it is fortunate that there are techniques for diagnosis and effective interventions. Human communication and its disorders have three interrelated domains: the reception of sensory inputs which carry information-the receptive aspect of communication; motoric expression of the communication-the expressive aspect of communication; and the central nervous system's processing of these sensory and motor functions which formulates the information into language-the linguistic portion of communi*This article concerns auditory communication as a model system. A substantial body of knowledge exists in the area of visual linguistic communication, and many of the principles of early detection and amelioration are applicable to visually based communication. A lesser amount of information exists concerning tactile-based communication, and still less information exists concerning the use of olfaction, gustation, or proprioperception for linguist communication.
From the Department of Otolaryngology, Albert Einstein College of Medicine; and Montefiore Medical Center, Bronx, New York
PEDIATRIC CLINICS OF NORTH AMERICA VOLUME 41 • NUMBER 5 • OCTOBER 1994
1035
1036
RUBEN
cation. These three areas are interrelated, and deficency in anyone impairs the communication ability of the person. If not recognized early and ameliorated, the deficiency can result in a permanent communication disability. Language, the measure of the person's communication ability, is routinely assessed in infants by a number of different instruments. 3,6 Hearing deficiencies in infants occur in different ways. A common form is the reduction in the quantity of sound that is heard, that is, the volume is decreased. This type of loss, when it becomes modestly large, degrades and distorts the quality of the sound as it is processed by the infant. The quality of sound, which is processed by the central nervous system, can be altered by other physiologic and anatomic defects, but the quality of the auditory stimulus is dependent upon the source of the stimulus. The effect of the maternal auditory stimulus, the mother's use of language, will determine the language that the child learns and the phonemes that the child will be able to recognize. The linguistic structure is determined by the type of language to which the infant is exposed.35 If the linguistic input is defective, this can result in defective development of the child's language. 39 Auditory stimuli, voice and speech, are dominant modes of expressing communication, and defects in the voice speech tract result in communication disorders. Diminished expressive abilities for an infant diminish the infant's ability to express herself or himself to others, and consequently change the way in which others will communicate with the infant. The infant who cannot cry or whose cry is abnormal will engender different responses from those with a normal cry. The deficiency in expressive language, in tum, modifies the receptive environment that affects the development of the child's language. This explains why children without voice, an expressive disease, for the first part of their lives have deficiencies in their receptive language also. 19 The prevalence of communication disorders (hearing, voice, speech, and language) in the infant is not known. The incidence is dependent upon what is defined as a disease and is further modified by the realization that different types of sensory abnormalities, either expressive or receptive, will vary in their effect in different children. For example, a mild hearing loss will have more of an effect on language in a mentally retarded child than in a infant who has inadequate linguistic stimulation. 39 An estimate of incidence would be based on the following. The incidence of severe to profound hearing loss is about 1 in 1000, of less than severe hearing loss from 2 to 4 per 1000, not including the loss from otitis media with effusion (OME). Added to these are the incidence of infants with lesions of the upper airway which require tracheotomy in about 1 in 1000. Additionally, there are those children with cleft palates, which have an incidence of 1.4 in 1000, speech disorders secondary to neuromuscular disorders (e.g., cerebral palsy) 3 in 1000, and other voicespeech pathologies 3 in 1000. These combined give an estimate of an order of magnitude of 11.4 to 13.4 per 1000, or 1% of all infants will have a substantial expressive or receptive communication disorder.
COMMUNICATIVE DISORDERS
1037
Most infants will have at least one episode of otitis media in their first year of lifep and 30% of these will have OME that will be present for more than 2 weeks. This group, about 20% to 30% of the infant population, because of the hearing loss associated with OME, is at risk for a decreased receptive disorder, a variable conductive hearing loss. How many of these fluctuating hearing losses from OME will be significant to present and future communication skills of the infant is not known. There are children who have an increased susceptibility to the fluctuating loss of OME, including those with mental retardation, intrinsic language disorders, other sensory deficits (e.g., visual impairment), language deprivation, and expressive disorders. An estimate of the prevalence of communication disorders in the first 12 months of life is greater than 1% and may be as high as 5% to 10%, depending on what is defined as a communication disorder.
RECEPTIVE DISORDERS
Hearing disorders occur from pathology of the different parts of the hearing mechanism. Those disorders that affect the transmission of sound from the pinna to the cochlea are called conductive hearing loss. The term "conductive" means that if the cochlea is stimulated by air, the hearing is reduced, but if the cochlea is stimulated by vibrating the skull, the hearing is better than when it was stimulated by airborne sound. The sound is transmitted via bone conduction, thus the term conductive hearing loss. Conductive hearing losses are the most common form of the receptive communicative disorders of the first year of life. Conductive hearing losses, which are principally the decrease in volume, or quantity, are caused by different pathologies. The most common is the loss associated with otitis media, either acute or OME. These losses vary from very little to those that necessitate a 40 db (IOO-fold) increase in volume, or quantity, to achieve normal threshold. Some infants have a greater susceptibility for otitis media acute or OME. These include children with maxillofacial abnormalities, the most common being infants with cleft palate but also those with submucosal clefts of the palate and skull base malformations (e.g., Crouzon's disease, Treacher-Collins sequence, and others). Additionally, infants with maxillofacial abnormalities may have malformations of the external ear, the pinna, and the external ear canal or malformation of the middle ear cleft (abnormal, missing, or fixed tympanic membrane or middle ear ossicles), which results in a fixed conductive loss of 40 db or greater. Native American infants have a very high incidence of otitis media; this is due, in some, to the high incidence of submucosal clefts of the palate. The submucosal clefts of the palate are associated with bifid uvulae. Infants with bifid uvula are at increased risk for OME and the associated hearing loss. The prevalence of otitis media is greatly increased in children who have immune defects. This is seen in children with Kartagener's syndrome, AIDS, DiGeorge's syndrome, and others. There is a group of
1038
RUBEN
infants that have been defined as otitis prone. These infants consist of a heterogenous group of different immune deficiencies as expressed by either B-cell and / or T-cell aberrations. There are also data that suggest that breast-fed infants will be less prone to otitis than infants who are bottle fed. Correlation has been found with exposure to tobacco; some of those who are exposed may have a higher prevalence of otitis than those who are not exposed. Poverty is, in this author's view, another predisposing factor to an increased incidence of otitis. This comes about from a number of factors including malnutrition, lack of medical care, noncompliance with medical care, and neglect. Communication disorders in the poor have been found to be associated, in part, to asocial behavior .1, 4, 31 Pathology of the cochlea results in sensorineural hearing loss (SNHL), a term that reflects the usually dual nature of the disorder. Pathologies of the inner ear will involve the hair cells, the sensory portion of the term, which transduce the auditory signal to a biologic signal that is then transmitted to the auditory nerve, the neural portion of the term, and carried to the central nervous system. SNHL losses vary from minimal losses at one frequency to a total loss of hearing. They can occur symmetrically or asymmetrically in both ears or only in one ear. SNHL is found in a number of conditions noted in the proposed high-risk registry (Table 1). Hereditary hearing loss is the most common form of SHNL in the first year of life. Hereditary loss may be syndromic, such as Waardenburg's disorder, or nonsyndromic. Studies have shown that most of the hereditary SNHL are nonsyndromic and are recognized as genetically based because of consanguinity or family history. The genetic loss may be total, partial, asymmetrical, or progressive during the first year of life. SNHL will occur in about 10% to 15% of patients with bacterial meningitis and is markedly reduced with the use of dexamethasone.lO,22 SNHL are found to be increased in infants who are less than 1500 grams; have had an exchange transfusion for kernicterus; suffered from perinatal asphyxia; had persistent pulmonary hypertension; were on prolonged ventilation; have positive titers for rubella, cytomegalovirus, syphilis, or toxoplasmosis; have had ototoxic medication; or are syndromic. SNHL occurs after the perinatal period, and the infant must be monitored for the possibility of a progressive or an acquired hearing loss. The common causes of progressive and acquired loss after the first month of life are genetic, meningitis, and head trauma. Head trauma resulting in SHNL in the infant may present much differently from in the older child, in which the hearing loss is suspected after the signs of a skull base fracture, blood and/or cerebral spinal fluid discharging from the external auditory canal, hemotympanum, or radiologic evidence of skull base fracture. The infant instead may have what is believed to be a modest head injury and have none of the associated signs of skull base fracture. Case History
A 3-month-old infant was hit in the head by a car seat that sprang back. The child was not unconscious, and there was no bleeding from the ear. The
COMMUNICATIVE DISORDERS
1039
Table 1. JOINT COMMISSION ON INFANT HEARING 1994 POSITION STATEMENT" INDICATORS Indicators associated with sensorineural and/or conductive hearing loss: For use when universal screening is not available (Neonates: birth to 28 days): Family history of hereditary, childhood sensorineural hearing loss. In utero infection such as cytomegalovirus, rubella, syphilis, herpes, and toxoplasmosis. Craniofacial anomalies including those with morphologic abnormalities of the pinna and ear canal. Birth weight less than 1500 grams (3.3 Ibs). Hyperbilirubinemia at a serum level requiring exchange transfusion. Ototoxic medications including but not limited to the aminoglycosides used in multiple courses or in combination with loop diuretics. Bacterial meningitis. Severe depression at birth with Apgar scores of 0 to 4 at 1 minute or 0 to 6 at 5 minutes. Prolonged mechanical ventilation lasting 5 days or longer (e.g., persistent pulmonary hypertension). Stigmata or other findings associated with a syndrome known to include a sensorineural and/or a conductive hearing loss. Indicators associated with sensorineural and/or conductive hearing loss: Health conditions which may develop and require rescreening (Infants, 29 days to 2 years): ParenVcaregiver concern regarding hearing, speech, language and/or developmental delay. Bacterial meningitis and other infections associated with sensorineural hearing loss. Head trauma associated with loss of consciousness or skull fracture. Stigmata or other findings associated with a syndrome known to include a sensorineural and/or a conductive hearing loss. Ototoxic medications including but not limited to chemotherapeutic agents or aminoglycosides used in multiple courses or in combination with loop diuretics. Recurrent or perSistent otitis media with effusion for at least 3 months. Indicators associated with sensorineural and/or conductive hearing loss: Indicators requiring periodic monitoring of hearing (Infant: 29 days to 3 years). Some newborns and infants may pass initial hearing screening but will require periodic monitoring of hearing to detect delayed onset sensorineural, and/or conductive hearing loss. Infants with these indicators require hearing evaluation at least every 6 months until age 3 years and at appropriate intervals thereafter. Indicators associated with delayed onset sensorineural hearing loss include: Family history of hereditary childhood hearing loss. History of in utero infection such as cytomegalovirus, rubella, syphilis, herpes, or toxoplasmosis. Neurofibromatosis type II, and neurodegenerative disorders. Persistent pulmonary hypertension in the newborn period. Indicators associated with conductive hearing loss include: Recurrent or persistent otitis media with effusion. Anatomic deformities and other disorders which affect eustachian tube function. Neurodegenerative disorders. ·Preliminary draft as of August 1994.
parent noted that the child had progressive hearing loss over the next few weeks, and the child was seen by a number of physicians. The parents, after 4 months, were certain that the child no longer heard. The child was then tested and found to have a bilateral severe SNHL. Special testing was carried out to determine if a perilymph fistula was present.36 The test was positive, and one ear was explored. The stapes was dislocated from the oval window, and there was a large perilymph leak. This was repaired. Some weeks later, the second ear was explored with a similar finding. Unfortunately, the repair did not restore the hearing, and
1040
RUBEN
the infant is a candidate for a cochlear implant. This case is typical of other infants who have had progressive SNHL following modest head trauma without the expected signs of a temporal bone fracture.
The parents' observation of the hearing loss in their infant was the critical factor in making the diagnosis. Unfortunately, in this and in many other cases with a variety of different causes, the parents' observation of a hearing loss is not followed through with definitive testing by the physician. The most important risk criterion for hearing loss in the infant of greater than 1 month age is parental concern or suspicion. The auditory environment of the infant will determine its ability to discriminate the complex sound patterns, or phonemes, which carry the specific language information of speech. Japanese children can distinguish the unique phonemes of Japanese but not those of English and vice versa?1,35 The quality of the linguistic exposure for the first few years of life will in some situations be a determinant of the quality of the child's linguistic ability. The more extreme cases, such as a child raised in linguistic isolation in which there has been little or no linguistic input, result in a severely linguistically handicapped child?, 32, 37 There are many infants who develop in a linguistic environment that is not completely deprived, as in the few isolated children, but in which the language input to the child is markedly deficient. This has been reported to occur in other environments, such as in the rearing of infants in inner city poverty. Many of these infants, however, develop good language notwithstanding the impoverishment of the linguistic input during the first year of life. One study39 showed children who were matched for socioeconomic status and prenatal and perinatal history but who differed in two areas. One group had mothers who used appropriately complex explanatory language with their infants, and the other group had mothers who were found to have impoverished linguistic interaction with their infants. The other area of difference was the presence or absence of OME and the associated fluctuating hearing loss. Of four subgroups (one with no OME and with good language input, one with OME and good language input, one with no OME and poor language input, and one with OME and poor language input), only one group was found at 2 years of age to have poor language. This was the group with both the presence of OME and the poor language input from their mothers during the first year of life. These data suggest a synergistic effect of the poor quality of the auditory input, the poor language of the mother, and the quantitative diminution of hearing, the OME, during the first year of life, resulting in the poor language outcome at 2 years of age. The possibility of greater or lesser linguistic deprivation with or without other receptive losses must be considered as a potential for communication disorder in the first 12 months of life. EXPRESSIVE DISORDERS
Expressive disorders, the diseases and disorders of the voice, or speech tract, of the first 12 months of life are usually more obvious than
COMMUNICATIVE DISORDERS
1041
the receptive disorders. Voice and speech are different entities. Voice is the vibrating air column that is dependent upon the ability to move air through the trachea and the larynx. Speech is the modulation of this vibrating air column by the hypopharynx, oropharynx, nasopharynx, nasal cavity, mouth, tongue, teeth, and lips. Voice is dependent upon the infant's ability to produce a moving column of air during exhalation and to modify that column by the neuromuscular action of the vocal folds (vocal cords) and other actions of the larynx. Diseases of the lungs, diaphragm, and trachea that diminish the amount and force of expiration will cause a diminution in the intensity, pitch, or duration of the voice. These abnormalities become apparent in the nature of the infant's cry. They can be heard and quantified with the use of a sound spectrogram.18,20,29 Voice disorders in infancy are associated with different disease states. The most severe cases are those infants who are totally voiceless, or aphonic, for a shorter or longer period of time. All infants who are intubated have an expressive disorder, because they are unable to generate voice while their larynx is filled with an endotracheal tube. The endotracheal tube will result in changes of the endolarynx that will cause the infant's voice, after intubation, to be either diminished or distorted, for example, a hoarse cry. These pathologies consist of edema of the vocal fold, granulation tissue in the posterior commissure, and occasionally, after some weeks postintubation, the development of mucosal cysts or subglottic stenosis. A hoarse or diminished cry following endotracheal intubation is present in almost all infants. The infant who continues or becomes better and then develops abnormal voicing days or weeks following extubation may have an ongoing process in the larynx, which may be a mucosal cyst and may be a sign of the development of subglottic stenosis. Young infants who have tracheostomies are usually without voice, because the tracheotomy tube in smaller infants fills the airway so that no or little air can enter the glottis to provide an air column for speech. As the child grows, there can be some escape of air around the tracheotomy tube, so that voice can be generated. Infants with chronic tracheostomy can be aided by the use of one-way valves such as the Passy-Muir (Irvine, CA) valve. 14 Tracheotomized infants who have developed voice and then lost it or who would be expected to have voice and do not are often found to have a granuloma on the ventral wall of the trachea immediately proximal to the insertion of the tracheotomy tube. The voice can be restored by removal of this granulation tissue.9 Infants who are avocal or have minimal voicing ability must be provided with a means for expressive communication. Various interventions are successfully used, and the establishment of expressive communication should prevent later expressive language deficiencies. Abnormal voicing in the neonate as evidenced by an abnormal cry indicates either abnormal structure and/ or abnormal neuromuscular control of the larynx. The abnormalities of structure are seen in the various congenital malformations of the larynx including stenosis, webs, and clefts. The abnormal cry is also heard in more subtle malformations
1042
RUBEN
of the larynx, such as those found in the different chromosomal abnormalities such as cri du chat syndrome and others.8, 13,26, 38 The abnormally crying neonate is potentially a child who has a serious neurologic or structural deficiency and must be cared for appropriately. Changes in the cry of an infant are indications of a pathologic process occurring in the voice tract, usually the trachea or the larynx. The changes will be noted as a decrease in volume of the cry and a change in the frequency of the cry. The underlying pathologies are numerous. 5 The most common tumors of the larynx, usually benign, are subglottic hemangioma and papilloma, the latter usually associated with a maternal vaginal condylomata. Vocal cord paresis or paralysis is a common form of neurologic abnormality of the larynx and will present as a change in the cry.16 A bilateral vocal paralysis in the infant is life-threatening, and there is the need to establish a secure airway. The awareness of abnormalities of an infant's "speech" usually does not occur clinically until the end of the first year of life. The neonate's speech is manifested in the repertoire of sounds that the infant produces. The cooing, babbling, and crying are "protospeech." The infant is able to modulate the voicing so as to express pleasure, displeasure, playfulness, and so on. At about the eighth month, many of these expressive sounds become more recognizable as speech. The information and communication content of the protospeech is important.3D Infants who have sensory deprivation from hearing loss show abnormal changes in their prespeech utterances, their protospeech.27 Anatomic abnormalities of the speech tract are apparent at birth. The most common of these is the cleft palate, which occurs in about 1 in 700 births. The neonates with cleft palate have a number of feeding and, in some instances, breathing difficulties. Most, but not all,15 have a high prevalence of OME and the subsequent decrease in hearing from the associated conductive hearing loss. The palatal cleft affects the expressive portion of communication, whereas the OME decreases the receptive component of communication. The combination of both receptive and expressive abnormalities functions synergistically to the infant's communicative detriment. All efforts should be made as soon as possible to diagnose and care for those functions that can be restored, ameliorated, or habilitated. 28 Additional anatomic defects that will cause abnormal speech are bilateral choanal atresia, masses blocking the nasopharynx, and tumors of the tongue or mouth such as lymphangiomas or various cysts. Excisional surgery in the infant of benign tumors of the floor of the mouth can result in substantial lack of oral tissue later in childhood and can be the cause of a marked speech impediment. The most common speech abnormalities in older children are associated with neuromotor dysfunction. These include the dysarthria associated with cerebral palsy, dysfluency disorders (e.g., stuttering), and the different problems of articulation. Many of these diseases are genetic in origin24 and will be noted in the first year of life. The prompt recognition of these abnormalities should result in habilitation which, when commenced early, will be beneficial to the communicative abilities of the patient. The cerebral palsy dysarthria is associated with drooling and
COMMUNICATIVE DISORDERS
1043
other more pronounced swallowing abnormalities. 2 Some of these infants will have associated problems with their upper airway and will aspirate saliva and food. These infants may then require a tracheotomy to prevent the aspiration. This is another situation in which there is a negative synergistic effect of the disease process on the infant's communicative ability. The infant has difficulty with neuromuscular control of the speech mechanism, which of itself, results in severe dysarthria, and then is further handicapped by the placement of a tracheotomy to control aspiration which also decreases or abolishes the infant's ability to voice. The infant is then rendered almost totally mute. These neurologically impaired infants require substantial habilitation so that they may have expressive language to effect meaningful communication with their caretakers. DIAGNOSIS
Receptive disorders can be diagnosed at any age with great precision. A recent reviewl l of techniques has shown that no infant is too young or too sick to have an accurate and precise measure of his or her ability to hear. Tympanometry is a technique to measure the physical characteristics of the tympanic membrane and middle ear, but it does not measure hearing. The tympanogram gives information as to the possibility of a conductive hearing loss. Recording of cochlear emissions gives information concerning the integrity of the hair cells. The lack of cochlear emissions can mean that there is a lack of hair cell activity, the sensory portion of the SNHL. The recording of cochlear emissions in the infant has been suggested as a screening technique.40 Because OME will diminish or abolish the cochlear emission and OME is so prevalent in infants, the use of cochlear emissions as a screen for hearing loss will identify large numbers of false positives and will have a low and costly sensitivity. Auditory brain stem-evoked potentials (ABR) are able to characterize the hearing receptivity at different frequencies and different intensities by recording the responses from the acoustic nerve and the brain stem and giving information concerning the neural portion of a potential SNHL. ABRs are evoked with both air- and bone-conducted stimuli so that conductive hearing losses can be diagnosed in the youngest of infants. It is critical in the child who has a unilateral or bilateral malformation of the outer or middle ear to determine if either cochlea is functioning and if so, how well. This information is necessary so that the proper hearing aid(s) can be promptly fitted. Cortical-evoked potentials are used to determine the receptivity of sound at the cortical level and to assess at the reception of the complex signals which make up speech. During the past decade, behavioral testing of infants has advanced, and it is now routine to behaviorally test infants who are developmentally 6 months of age or older. The technique that is used is called visual reinforced audiometry (VRA)P' 25 which allows a behavioral audiogram
1044
RUBEN
to be obtained on each ear at each frequency, using both air and bone conduction. VRA allows for an accurate and precise evaluation of the infant's hearing. The behavioral information is the most useful, for it directly assesses what the infant is responding to. The diagnosis of the expressive problems is empiric and relies on the observation of the caretaker or the physician. Although there is instrumentation available for the recording and assessment of voice and speech sound, this is not used routinely in the evaluation of infants. This is an area that is developing. Unless an infant is suspected of having a communication disorder, the diagnosis cannot be made even though there are effective diagnostic techniques available. Table 1 lists the risk criteria for receptive disorders, and many of the criteria are applicable to expressive disorders. Caretaker concern is the most critical risk criteria. During the past three decades, there have been innumerable editorials and articles noting that the parent suspected the child had a communication difficulty, usually a hearing loss, and the physician did not think the parent was correct, or that the infant would outgrow the problem, or that it was a developmental variant. Many infants had a substantial delay in diagnosis, and some have been denied prompt treatment which could have ameliorated loss or restored function if the physician had assumed that the parent was probably correct. Any infant whose parents feel that he or she is having some difficulty with either receptive or expressive communication must be promptly and definitively diagnosed. The physician must routinely assess the infant's language development at each well-baby visit. This will allow for early diagnosis and proper care of the various communication disorders that occur in the first year of life. There are a number of paper and pencil instruments that have been developed to screen for communicative disorders. The Early Language Milestone Scale (ELM) developed by Coplan6 has proven to be an effective screening instrument which has been used in a number of different settings. 34 In its newest revision, it also includes a section for speech. Early diagnosis is dependent on both the parents' and the physician's awareness of a problem. It has been suggested33 that public awareness be heightened by the following message appearing on milk cartons, diaper boxes, and baby food containers: The Surgeon General warns that if your child does not have two words other than "mama" or "dada" by his or her first birthday, then he or she may have a hearing loss or other communication disorder. Your child should have a hearing test and other appropriate evaluations, for there are effective treatments that must occur early in life.
References 1. _American Speech and Hearing Association: Task Force Report on Speech Pathology /
Audiology Service Need in Prisons. June 4,1973. 2. Arvedson Jc, Brodsky L (eds): Pediatric Swallowing and Feeding: Assessment and Management. San Diego, Singular Publ. Group, 1993
COMMUNICATIVE DISORDERS
1045
3. Bayley N: The Bayley Scales of Infant Development. San Antonio, Psychological Corp., 1969 4. Burke AE, Crenshaw DA, Green J, et al: Influence of verbal ability on the expression of aggression in physically abused children. J Am Acad Child Adolesc Pyschiatry 28:215218, 1989 5. Cohen SR, Thompson JW, Geller KA, et al: Voice change in the pediatric patient: A differential diagnosis. Ann Otol Rhinol Laryngol92(pt 1):437-443,1983 6. Coplan J, Gleason JR: Quantifying language development from birth to three years using the early language milestone scale. Pediatrics 86:963-971,1990 7. Curtiss SG: A Psycholinguistic Study of a Wild Child. New York, Academic Press, 1977 8. Dejonckere PH: Pathogenesis of voice disorders in childhood. Acta Otorhinolaryngol Belg 38:307-314, 1984 9. Friedberg J: Tracheotomy revision in infants: To facilitate extubation and restore phonation. Int J Pediatr OtorhinolaryngoI13:61-68, 1987 10. Geiman BJ, Smith AL: Dexamethasone and bacterial meningitis: A meta-analysis of randomized controlled trials. West J Med 157:27-31, 1992 11. Gravel JS (ed): Assessing Auditory System Integrity in High-Risk Infants and Young Children. (Seminars in Hearing eds, vol 10.) New York, Thieme Medical Publishers, 1989 12. Gravel JS, Traquina DN: Experience with audiologic assessment of infants and toddlers. Int J Pediatr OtorhinolaryngoI23:59-71, 1992 13. Garvey M, Mutton DE: Sex chromosome aberrations and speech development. Arch Dis Child 48:937-941,1973 14. Gereau SA, Navarro G, Cluterio B, et al: Selection of patients for use of the Passy Muir valve for speech production. Abstracts of the American Society of Pediatric Otolaryngology, 1993, p 50 15. Gereau SA, Stevens D, Bassila M, et al: Endoscopic observations of eustachain tube abnormalities in children with palatal clefts. In Lim DJ, Bluestone CD, Klein JO, et al (eds): Recent Advances in Otitis Media. Philadelphia, B. C. Decker, 1988, pp 60-63 16. Grundfast KM, Harley E: Vocal cord paralysis. Otolaryngol Clin North Am 22:569-597, 1989 17. Haggard M, Hughes E: Screening Childrens's Hearing: A Review of the Literature and the Implications of Otitis Media. (Medical Research Council.) London, Her Majesty's Stationary Office, 1991 18. Hirschberg J, Szende T: Pathological Cry, Stridor, and Cough in Infants: A Clinical Acoustic Study. Budapest, Akademiai Kiad6, 1982 19. Kaslon KW, Stein RE: Chronic pediatric tracheotomy: Assessment and implications for habilitation of voice, speech, and language in young children. Int J Pediatr OtorhinolaryngoI9:165-171,1985 20. Kent RD, Murray AD: Acoustic features of infant vocalic utterances at 3, 6, and 9 months. J Acoust Soc Am 72:353-365,1982 21. KuhI PK, Williams KA, Lacerda F, et al: Linguistic experience alters phonetic perception in infants by 6 months of age. Science 255:606-608,1992 22. Lebel MH, Freij BJ, Syrogiannopoulos GA, et al: Dexamethasone therapy for bacterial meningitis: Results of two double-blind, placebo-controlled trials. N Engl J Med 319:964-971,1988 23. Lenneberg EH: Biological Foundations of Language. New York, Wiley, 1967 24. Ludlow CL, Dooman AG: Genetic aspects of idiopathic speech and language disorders. Otolaryngol Clin North Am 25:979-994,1992 25. Moore JM, Thompson G, Foisom RC: Auditory responsiveness of premature infants using visual reinforcement audiometry (VRA). Ear Hear 13:187-194,1992 26. Mutton DE, Lea J: Chromosome studies of children with specific speech and language delay. Dev Med Child Neurol22:588-594, 1980 27. Oller DK, Eilers RE, Bull DH, et al: Prespeech vocalizations of a deaf infant: A comparison with normal metaphonological development. J Speech Hear Res 28:47-63,1985 28. Peterson-Falzone SJ: Impact of communicative disorders on otolaryngologic care of patients with craniofacial anomalies. Otolaryngol Clin North Am 14:895-915, 1981 29. Raes J, Michelsson K, Dehaen F, et al: Cry analysis in infants with infectious and congenital disorders of the larynx. Int J Pediatr OtorhinolaryngoI4:157-169, 1982
1046
RUBEN
30. Robb MP, Saxman JH: Acoustic observations in young children's non-cry vocalizations. J Acoust Soc Am 83:1876-1882, 1988 31. Rousey CL, Cozad R: Hearing and speech disorders among delinquent children. Corrective Psychiatry and Journal of Social Therapy 12:250-255, 1966 32. Ruben RJ: Auditory deprivation. Auris Nasus Larynx 12(Suppl1):S36-S37, 1985 33. Ruben RJ: Early Identification of Hearing Impairment in Infants and Young Children [editorial]. Int J Pediatr Otorhinolaryngo127:207-213, 1993 34. Ruben RJ: Language screening as a factor in the management of the pediatric otolaryngic patient. Arch Otolaryngol Head Neck Surg 117:1021-1025, 1991 35. Ruben RJ: The ontogeny of human hearing. Acta Otolaryngol Stockh 112:192-196, 1992 36. Ruben RJ, Yankelowitz SM: Spontaneous perilymphatic fistula in children. Am J Otol 10:198-207, 1989 37. Rymer R: A Scientific Tragedy. New York, Harper Collins, 1993 38. Sohner L, Mitchell P: Phonatory and phonetic characteristics of prelinguistic vocal development in cri du chat syndrome. J Commun Disord 24:13-20, 1991 39. Wallace I, Gravel J, Ganon EC, et al: Two year language outcomes as a function of otitis media with effusion and parental linguistic styles. In Lim D, Bluestone C, Klein JO, et al (eds): Proceedings of the Fifth International Symposium of Otitis Media, 1991. Philadelphia, B. C. Decker, 1993, pp 527-530 40. White KR, Behrens TR (eds): The Rhode Island Hearing Assessment Project: Implications for Universal Newborn Hearing Screening, vol 14, no. 1. New York, Thieme Medical Publishers, 1993 41. Wilson EO: Sociobiology: The New SynthesiS. Cambridge, Harvard Univ Press, 1975
Address reprint requests to Robert J. Ruben, MD Department of Otolaryngology Montefiore Medical Center 111 East 210th Street Bronx, NY 10467