Kliegman: Nelson Textbook of Pediatrics, 18th ed.

Copyright 2007 Saunders, An Imprint of Elsevier

32.2 Language Development and Communication Disorders
Mark D. Simms Robert L. Schum
For most children, learning to communicate in their native language is a naturally
acquired skill, whose potential is present at birth. No specific instruction is
required, although children must be exposed to a language-rich environment.
Normal development of speech and language is predicated on the infant's ability
to hear, see, comprehend, and remember. Equally important are sufficient motor
skills to imitate oral motor movements and the social ability to interact with
others.
NORMAL LANGUAGE DEVELOPMENT.
For the purposes of analysis, language is subdivided into several essential
components. Communication consists of a wide range of behaviors and skills. At
the level of basic verbal ability, phonology refers to the correct use of speech
sounds to form words, semantics refers to the correct use of words, and syntax
refers to the appropriate use of grammar to make sentences. At a more abstract
level, verbal skills include the ability to link thoughts in a coherent fashion and to
maintain a topic of conversation. Pragmatic abilities include verbal and
nonverbal skills that facilitate the exchange of ideas, including the appropriate
choice of language for the situation and circumstance and the appropriate use of
body language (posture, eye contact, gestures). Social pragmatic and behavioral
skills also play an important role in effective interactions with communication
partners (engaging, responding, maintaining reciprocal exchanges).
It is customary to divide language skills into receptive (hearing and
understanding) and expressive (talking) abilities. Language development usually
follows a fairly predictable pattern and parallels general intellectual development
( Table 32-1 ).

TABLE 32-1 -- Normal Language Milestones

HEARING AND UNDERSTANDING

TALKING
BIRTH3 MO
Startles to loud sounds
Makes pleasure sounds (cooing, gooing)

Quiets or smiles when spoken to

Cries differently for different needs
Seems to recognize your voice and quiets if crying
Smiles when sees you
Increases or decreases sucking behavior in response to sound

46 MO
Moves eyes in direction of sounds
Babbling sounds more speech-like, with many different sounds, including p, b,
and m
Responds to changes in tone of your voice
Vocalizes excitement and displeasure
Notices toys that make sounds
Makes gurgling sounds when left alone and when playing with you
Pays attention to music

7 MO1 YR
Enjoys games such as peekaboo and pat-a-cake
Babbling has both long and short groups of sounds, such as tata upup bibibibi.
Turns and looks in direction of sounds
Uses speech or noncrying sounds to get and keep attention
Listens when spoken to
Imitates different speech sounds
Recognizes words for common items, such as cup, shoe, and juice
Has 1 or 2 words (bye-bye, Dada, Mama), although they may not be clear
Begins to respond to requests (Come here.Want more?)

12 YR
Points to a few body parts when asked

Says more words every month

Follows simple commands and understands simple questions (Roll the ball. Kiss
the baby.)
Uses some 12 word questions (Where kitty? Go bye-bye? your shoe?)
Listens to simple stories, songs, and rhymes
Puts 2 words together (more cookie, no juice, mommy book)
Points to pictures in a book when named
Uses many different consonant sounds at the beginning of words
23 YR
Understands differences in meaning (e.g., go-stop, in-on, big-little, up-down)
Has a word for almost everything
Follows 2-step requests (Get the book and put it on the table.)
Uses 23 word sentencesto talk about and ask for things

Speech is understood by familiar listeners most of the time

Often asks for or directs attention to objects by naming them

34 YR
Hears you when you call from another room
Talks about activities at school or at
Hears television or radio at the same loudness level as other family members
Usually understood by people outside the family
Understands simple who, what, where, why questions
Uses a lot of sentences that have 4 words

Usually talks easily without repeating syllables or words

45 YR
Pays attention to a short story and answers simple questions about it
Voice sounds as clear as other

Hears and understands most of what is said at home and in school

Uses sentences that include details (I like to read my books.)

Tells stories that stick to a topic

Communicates easily with other children and adults

Says most sounds correctly except a few, such as l, s, r, v, z, ch, sh, and th

Uses the same grammar as the rest of the family

From:American Speech-Language-Hearing Association, 2005;

http://professional.asha.org
.

Receptive Language Development.

From birth, newborns show preferential response to human voices over
inanimate sounds. The infant will alert and turn toward the direction of an adult
who speaks in a soft, high-pitched voice. Over the 1st 3 mo, infants appear to
recognize their parent's voice and will quiet if crying. Between 4 and 6 mo,
infants will visually search for the source of sounds, again showing a preference
for the human voice over other environmental sounds. By 5 mo, infants can
passively follow the adult's line of visual regard, resulting in a joint reference to
the same objects and events in the environment. The ability to share the same
experience is critical to the development of further language, social, and
cognitive skills. By 8 mo, the infant can actively show, give, and point to objects.
Comprehension of words often becomes apparent by 9 mo, when the infant
selectively responds to his or her name and appears to comprehend the word no.
Social games, such as peek-a-boo, so big, and waving bye-bye can be
elicited by simply mentioning the words. At 12 mo, many children can follow a
simple, 1-step request without a gesture (Give it to me). Between 1 and 2 yr,
comprehension of language accelerates rapidly. Toddlers can point to body parts

on command, identify pictures in books when named, and respond to simple

questions (Where's your shoe?). The 2 yr old is able to follow a 2-step
command involving unrelated tasks (Take off your shoes, then go sit at the
table) and can point to objects described by their use (Give me the one we
drink from). By 3 yr of age, children typically understand simple wh- question
forms (who, what, where, why). By 4 yr of age, most children can follow adult
conversation. They can listen to a short story and answer simple questions about
it. Typically, 5 yr olds have a receptive vocabulary of >2,000 words and can
follow 3- to 4-step commands.
Expressive Language Development.
Cooing noises are established by 46 wk of age. Over the 1st 3 mo of life,
parents may distinguish their infant's different vocal sounds for pleasure, pain,
fussing, or tiredness. Many 3 mo old infants vocalize in a reciprocal fashion with
an adult to maintain a social interaction (vocal tennis). By 4 mo, infants begin
to make bilabial (raspberry) sounds, and by 5 mo, monosyllables and laughing
are noticeable. At 68 mo, polysyllabic babbling (lalala, mamama) is heard
and the infant may begin to communicate with gestures. At 810 mo, babbling
makes a phonologic shift toward the particular sound patterns of the child's
native language (the child produces more native sounds than non-native
sounds). At 910 mo, babbling becomes truncated into specific words (mama,
dada) for their parents.
Over the next several months, infants learn 1 or 2 words for common objects and
begin to imitate words presented by an adult. These words may appear to come
and go from the child's repertoire until a stable group of 10 or more words is
established. The rate of acquisition of new words is approximately 1/wk at 12 mo,
but accelerates to approximately 1/day by 2 yr. The first words to appear are
used primarily to label objects (nouns) or to ask for objects and people
(requests). By 1820 mo, toddlers should use a minimum of 20 words and
produce jargon (strings of wordlike sounds) with language-like inflection patterns
(rising and falling speech patterns). This jargon usually contains some embedded
true words. Spontaneous 2-word phrases (pivotal speech), consisting of the
flexible juxtaposition of words with clear intention (Want juice!, Me down!)
are characteristic of a 2 yr old and reflect the emergence of grammatical ability
(syntax). Two-word, combinational phrases do not usually emerge until the child
has acquired a lexicon of 50100 words. Thereafter, the acquisition of new words
accelerates rapidly. As knowledge of grammar increases, there is a proportional
increase in the use of verbs, adjectives, and other words that serve to define the
relationship between objects and people (predicates). By 3 yr, sentence length
increases and the child uses pronouns and simple present tense verb forms.
These 35 word sentences typically have a subject and verb, but lack
conjunctions, articles, and complex verb forms. The Sesame Street character
Cookie Monster (Me want cookie!) typifies the telegraphic nature of 3 yr old
sentences. By 4 to 5 yr, children should be able to carry on conversations using
adult-like grammatical forms and to use sentences that provide details (I like to
read my books).

VARIATIONS OF NORMAL.
Language milestones have been found to be largely universal across languages
and cultures, with some variations, depending on the complexity of the
grammatical structure of individual languages. In Italian (where verbs often
occupy a prominent position at the beginning or end of sentences), 14 mo olds
produce a greater proportion of verbs compared with English-speaking infants.
Within a given language, development usually follows a fairly predictable
pattern, paralleling general cognitive development. Although the sequences are
predictable, the exact timing of achievement is not. There are marked variations
among normal children in the rate of development of babbling, comprehension of
words, production of single words, and use of combinational forms within the first
23 yr of life.
Two basic patterns of language learning have been identified: analytic and
holistic. The analytic pattern is the most common and reflects the mastery of
increasingly larger units of language forms. As reflected in the earlier discussion
of milestones, the child's analytic skills proceed from simple to more complex
and lengthy forms. Children who follow a holistic, or gestalt, learning pattern
may start by using relatively large chunks of speech in familiar contexts. They
may memorize familiar phrases or dialog from movies or stories and repeat them
in an overgeneralized fashion. Their sentences often have a formulaic pattern,
reflecting inadequate mastery of the use of grammar to flexibly and
spontaneously combine words appropriately in the child's own unique utterance.
Over time, these children gradually break down the meaning of phrases and
sentences into their component parts, and they learn to analyze the linguistic
units of these memorized forms. As this occurs, more original speech productions
emerge and the child is able to assemble thoughts in a more flexible manner.
Both analytic and holistic learning processes are necessary for normal language
development to occur.
LANGUAGE AND COMMUNICATION DISORDERSEPIDEMIOLOGY.
Disorders of speech and language affect up to 8% of preschool children. Nearly
20% of 2 yr olds are thought to have delayed onset of speech. By age 5 yr, 19%
of children are identified as having a speech and language disorder (6.4% speech
impairment, 4.6% speech and language impairment, and 8% language
impairment). Developmental stuttering occurs in 45% of 35 yr olds and 1% of
adolescents. Boys are nearly twice as likely as girls to have an identified speech
or language impairment.
ETIOLOGY.
Normal language ability is a complex function that is widely distributed across
the brain through interconnected neural networks that are synchronized for
specific activities. Although early researchers in language disorders, noting what
appeared to be clinical parallels between acquired aphasia in adults and
childhood language disorders, expected to find similar lesions in the brains of
affected children, for the most part, unilateral, focal lesions acquired in early life

do not seem to have the same effects in children as in adults. Risk factors for
neurologic injury are absent in the majority of children with language
impairment. Genetic factors appear to play a major role in influencing how
children learn to talk. Language disorders appear to cluster in families. A careful
family history may identify current or past speech or language problems in up to
30% of 1st-degree relatives of proband children. Children who are exposed to
parents with language difficulty might be expected to experience poor language
stimulation and inappropriate language modeling. Studies of twins have shown
the concordance rate for low language test scores and/or a history of speech
therapy to be approximately 50% in dizygotic pairs, increasing to >90% in
monozygotic pairs. A number of potential gene loci have been identified, but no
consistent genetic markers have been established. The most plausible genetic
mechanism involves a disruption in the timing of early prenatal
neurodevelopmental events affecting migration of nerve cells from the germinal
matrix to the cerebral cortex.
Severe expressive language delay is rarely associated with a duplication of the
locus for Williams syndrome. Microdeletions, in contrast, cause Williams
syndrome, which leads to normal articulation and fluent expressive language in
affected patients.
PATHOGENESIS.
Language disorders are associated with a fundamental deficit in the brain's
capacity to process complex information rapidly. Simultaneous evaluation of
words (semantics), sentences (syntax), prosody (tone of voice), and social cues
may overtax the child's ability to comprehend and respond appropriately in a
verbal setting. Limitations in the amount of information that can be stored in
verbal working memory may further limit the rate at which language information
is processed. Electrophysiologic studies show abnormal latency in the early
phase of auditory processing in children with language disorders. Neuroimaging
studies have identified an array of anatomic abnormalities in regions of the brain
that are central to language processing. MRI scans in children with specific
language impairment (SLI) may show white matter lesions, white matter volume
loss, ventricular enlargement, focal gray matter heterotopia within the right and
left parietotemporal white matter, abnormal morphology of the inferior frontal
gyrus, atypical patterns of asymmetry of the language cortex, or increased
thickness of the corpus callosum. Postmortem studies of children with language
disorders have found evidence of atypical symmetry in the plana temporale and
cortical dysplasia in the region of the sylvian fissure. Some researchers have
identified a high incidence of paroxysmal electroencephalogram (EEG) anomalies
during sleep in children with SLI. Although these findings may represent a mild
variant of Landau-Kleffner syndrome (acquired verbal auditory agnosia), they
likely represent an epiphenomenon in which paroxysmal activity is related to
architectural dysplasia. In support of a genetic mechanism affecting cerebral
development, a high rate of atypical perisylvian asymmetries has also been
documented in parents of children with SLI.

CLINICAL MANIFESTATIONS.
Primary disorders of speech and language development are frequently found in
the absence of broader cognitive or motor dysfunction. Disorders of
communication are the most common comorbid condition in individuals with
generalized cognitive disorders (autism or mental retardation; see Chapters 29
and 38 ), structural anomalies of the organs of speech (velopharyngeal
insufficiency from cleft palate), and neuromotor conditions affecting oral motor
coordination (dysarthria from cerebral palsy or other neuromuscular disorders).
Classification.
There is no universally accepted classification of childhood communication
disorders. Each professional discipline has adopted a somewhat different
classification system, based on cluster patterns of symptoms. One of the
simplest classifications is that adopted by the American Psychiatric Association's
Diagnostic and Statistical Manual of Mental Disorders (DSM-IV). This system
recognizes 4 types of communication disorders: expressive language disorder,
mixed receptive-expressive language disorder, phonologic disorder, and
stuttering ( Table 32-2 ). In clinical practice, childhood speech and language
disorders occur as a number of distinct entities.

TABLE 32-2 -- DSM-IV Diagnostic Criteria for Communication Disorders

EXPRESSIVE LANGUAGE DISORDER

A.
The scores obtained from standardized individually administered measures of
expressive language development are substantially below those obtained from
standardized measures of both nonverbal intellectual capacity and receptive
language development. The disturbance may be manifest clinically by symptoms
that include having a markedly limited vocabulary, making errors in tense, or
having difficulty recalling words or producing sentences with developmentally
appropriate length or complexity

B.
The difficulties with expressive language interfere with academic or occupational
achievement or with social communication

C.
Criteria are not met for mixed receptive-expressive language disorder or a
pervasive developmental disorder

D.
If mental retardation, a speech-motor or sensory deficit, or environmental
deprivation is present, the language difficulties are i n excess of those usually
associated with these problems

Coding note: If a speech-motor or sensory deficit or a neurologic condition is

present, code the condition on Axis III
MIXED RECEPTIVE-EXPRESSIVE LANGUAGE DISORDER

A.
The scores obtained from a battery of standardized individually administered
measures of both receptive and expressive language development are
substantially below those obtained from standardized measures of nonverbal
intellectual capacity. Symptoms include those for expressive language disorder
as well as difficulty understanding word s, sentences, or specific types of words,
such as spatial terms

B.
The difficulties with receptive and expressive language significantly interfere
with academic or occupational achievement or wi th social communication

C.
Criteria are not met for a pervasive developmental disorder

D.
If mental retardation, a speech-motor or sensory deficit, or environmental
deprivation is present, the language difficulties are i n excess of those usually
associated with these problems

Coding note: If a speech-motor or sensory deficit or a neurologic condition is

present, code the condition on Axis III
PHONOLOGICAL DISORDER

A.
Failure to use developmentally expected speech sounds that are appropriate for
age and dialect (e.g., errors in sound production, use, representation, or
organization such as, but not limited to, substitutions of 1 sound for another [use
of /t/for target /k/sound] or omissions of sounds such as final consonants)

B.
The difficulties in speech sound production interfere with academic or
occupational achievement or with social communication

C.
If mental retardation, a speech-motor or sensory deficit, or environmental
deprivation is present, the speech difficulties are in excess of those usually
associated with these problems

Coding note: If a speech-motor a sensory deficit or a neurologic condition is

present, code the condition on Axis III
STUTTERING

A.
Disturbance in the normal fluency and time patterning of speech (inappropriate
for the individual's age), characterized by frequent occurrences of 1 of the
following:

1.
Sound and syllable repetitions

2.
Sound prolongations

3.
Interjections

4.
Broken words (e.g., pauses within a word)

5.
Audible or silent blocking (filled or unfilled pauses in speech)

6.
Circumlocutions (word substitutions to avoid problematic words)

7.
Words produced with an excess of physical tension

8.
Monosyllabic whole-word repetitions (e.g., I-I-I-I see him)

B.
The disturbance in fluency interferes with academic or occupational achievement
or with social communication

C.
If a speech-motor or sensory deficit is present, the speech difficulties are in
excess of those usually associated with these pr oblems

Coding note: If a speech-motor or sensory deficit or a neurologic condition is

present, code the condition on Axis III
COMMUNICATION DISORDER NOT OTHERWISE SPECIFIED
This category is for disorders in communication that do not meet the criteria for
any specific communication disorder; for exampl e, a voice disorder (i.e., an
abnormality of vocal pitch, loudness, quality, tone, or resonance)

Reprinted with permission from the Diagnostic and Statistical Manual of Mental
Disorders, 4th ed. Washington, DC, American Psychiatric Association, 1994,
pp.58,6061,63,65. Copyright 1994, American Psychiatric Association.

Specific Language Impairment (SLI).

Also referred to as developmental dysphasia or developmental language
disorder, SLI is characterized by a significant discrepancy between the child's
overall cognitive level (typically nonverbal measures of intelligence) and
functional language level. These children follow an atypical pattern of language
acquisition and use. Closer examination of the child's skills may show deficits in
the understanding and use of word knowledge (semantics) and grammatical
understanding (syntax). Children with SLI are often delayed in starting to talk
and usually have difficulty understanding spoken language. The problem may
stem from insufficient understanding of single words or from the inability to
deconstruct and analyze the meaning of sentences. Many affected children show
a holistic pattern of language development, repeating memorized phrases or
dialog from movies or stories (echolalia). In contrast to their difficulty with
spoken language, children with SLI appear to learn visually and demonstrate
their ability on nonverbal tests of intelligence. Although they have difficulty
interacting with peers who are more verbally adept, many children with SLI play
appropriately with younger or older children. Despite their communication
impairment, they engage in pretend play, show imagination, share emotions
(affective reciprocity), and demonstrate joint referencing behaviors appropriate
to their age. There is a high incidence of difficulty with fine motor coordination in

these children. A combination of increased joint mobility and mild muscular

hypotonia often results in motor clumsiness. Although children with SLI respond
to therapeutic and educational interventions and show a trend toward
improvement of communication skills, adults with a history of childhood
language disorder continue to show evidence of impaired language ability, even
when surface features of the communication difficulty may have improved
considerably. This suggests that many individuals find successful ways of
adapting to their impairment.
Many children with SLI show difficulties with social interaction, particularly with
same-aged peers. Social interaction is mediated by oral communication, and a
child deficient in communication is at a distinct social disadvantage. Children
with SLI tend to be more dependent on older children or adults, who can adapt
their communication to match the child's level of function. At times, these
children may gravitate toward younger children who communicate at a level they
can comprehend. Generally, social interaction skills are more closely correlated
with language level than with nonverbal cognitive level; a developmental
progression of increasingly sophisticated social interaction is usually seen as the
child's language abilities improve. In this context, social ineptitude is not
necessarily a sign of asocial distancing (autism), but rather a delay in the ability
to negotiate social interactions.
Pragmatic Language Disorder.
The ability to communicate effectively with others depends on mastery of a
range of skills that go beyond basic understanding of words and rules of
grammar. These higher-order abilities include knowledge of the conversational
partner, knowledge of the social context in which the conversation is taking
place, and general knowledge of the world. Social and linguistic aspects of
communication are often difficult to tease apart, and individuals who have
trouble interpreting these relatively abstract aspects of communication typically
have difficulty forming and maintaining relationships. Symptoms of pragmatic
difficulty include extreme literalness and inappropriate verbal and social
interactions. Proper use and understanding of humor, slang, and sarcasm depend
on correct interpretation of both the meaning and the context of language and
the ability to draw proper inferences. Failure to provide a sufficient referential
base to one's conversational partnerto take the perspective of another person
results in the appearance of talking or behaving randomly or incoherently.
Pragmatic language impairment often occurs in the context of specific language
impairment, but it has been recognized as a symptom of a wide range of
disorders, including damage to the right hemisphere of the brain, autism,
Asperger syndrome, Williams syndrome, and nonverbal learning disabilities.
Mental Retardation.
(See Chapter 38 .) Most children with a mild degree of mental retardation learn
to talk at a slower than normal rate, although they follow a normal sequence of
language acquisition and eventually master basic communication skills.
Difficulties may be encountered with higher-level language concepts and usage.

Individuals with moderate to severe degrees of cognitive retardation may have

great difficulty in acquisition of basic communication skills. Approximately of
individuals with IQ <50 are able to communicate using single words or simple
phrases; the rest are typically nonverbal.
Autism and Pervasive Developmental Disorders.
(See Chapter 29 .) A disordered pattern of language development is one of the
core features of autism and other pervasive developmental disorders. The
language profile of children with autism is indistinguishable from that of children
with specific language impairments. The key points of distinction between these
conditions are the lack of reciprocal social relationships that characterizes
individuals with autism; limitation in the ability to develop functional, symbolic,
or pretend play; and an obsessive need for sameness and resistance to change.
Approximately 7580% of children with autism are also mentally retarded, and
this may limit their ability to develop functional communication skills. Language
abilities may range from absent to grammatically intact, but with limited
pragmatic features and/or odd prosody patterns. Some autistic individuals have
highly specialized, but isolated, savant skills, such as calendar calculations and
hyperlexia (the precocious ability to recognize written words beyond expectation
based on general intellectual ability). Regression in language and social skills
(autistic regression) occurs in approximately 30% of children with autism, usually
before 2 yr of age. No explanation for this phenomenon has been identified.
Once the regression has stabilized, recovery of function does not usually occur
( Fig. 32-2 ). Other causes of language regression include acquired brain lesions,
neurodegenerative disorders, disintegrative disorders (autistic behavior,
cognitive deficit seen in older children), or acquired epileptic aphasia (LandauKleffner syndrome).

Figure 32-2 Relationship of autism, language disorders, and mental retardation.

(From Simms MD, Schum RL: Preschool children who have atypical patterns of
development. Pediatr Rev 2000; 21:147158.)

Asperger Disorder.
(See Chapter 29.2 .) Although sharing many characteristics of autism (deficits in
social relatedness, restricted range of interests), individuals with Asperger
syndrome typically show normal early language development (syntax,
semantics). As they mature, higher-order social and language pragmatic
impairments become prominent. These children have an unusually circumscribed
range of interests that are all-absorbing and that interfere with learning other
skills and social adaptation. They may engage in long-winded, verbose
monologues about their topics of special interest, with little regard to the
reaction of others. Their inflection pattern (prosody) may be inappropriate to the
content of their conversation, and they may not adjust their rate of speech or
vocal volume to the setting.
Selective Mutism.
(See Chapter 24 .) Selective mutism is defined as a failure to speak in specific
social situations, despite speaking in other situations; it is typically a symptom of
an underlying anxiety disorder. Children with selective mutism can speak
normally in certain settings, such as within their home or when they are alone
with their parents, but do not speak in other social settings, such as at school or
at other places outside their home. Other symptoms associated with selective
mutism can include excessive shyness, withdrawal, dependency on parents, and
oppositional behavior. Most cases of selective mutism are not the result of a
single traumatic event, but rather are the manifestation of a chronic pattern of
anxiety. Mutism is not passive-aggressive behavior. Mute children report that
they want to speak in social settings, but are afraid to do so. It is important to
emphasize that the underlying anxiety disorder is the likely origin of selective
mutism. Often, one or both parents of a child with selective mutism have a
history of anxiety symptoms, including childhood shyness, social anxiety, or
panic attacks. This suggests that the child's anxiety represents a familial trait.
For an unknown reason, the child converts the anxiety into mutism. The mutism
is highly functional for the child in that it reduces anxiety and protects the child
from the perceived challenge of social interaction. Treatment of selective mutism
should focus on reduction of the general anxiety, rather than focusing only on
the mute behaviors. Selective mutism reflects a difficulty with social interaction
and not a disorder of language processing.
Isolated Expressive Language Disorder.
More commonly seen in boys than in girls, isolated expressive language disorder
(late talker syndrome) is a diagnosis best made in retrospect. These children
have age-appropriate receptive language and social ability. Once they start
talking, their speech is clear. There is no increased risk of language or learning
disability as they progress through school. A family history of other males with a
similar developmental pattern is often reported. This pattern of language
development likely reflects a variation of normal.

MOTOR SPEECH DISORDERS.Dysarthria.

Motor speech disorders may originate from neuromotor disorders, such as
cerebral palsy, muscular dystrophy, myopathy, or facial palsy. The resulting
dysarthria affects both speech and nonspeech functions (smiling, chewing). Lack
of strength and muscular control manifests as slurring of words and distortion of
vowels. Speech patterns are often slow and labored. Poor velopharyngeal
function may result in mixed nasal resonance (hyper- or hyponasal speech). In
many cases, feeding difficulty, drooling, an open-mouth posture, and a
protruding tongue accompany the dysarthric speech.
Verbal Apraxia.
Difficulty in planning and coordinating movements for speech production may
result in inconsistent distortion of speech sounds. The same word may be
pronounced differently each time. Intelligibility tends to decrease as the length
and complexity of the child's speech increase. Consonants may be deleted and
sounds transposed. As they try to talk spontaneously or imitate another's
speech, children with verbal apraxia may display oral groping or struggling
behaviors. Children with verbal apraxia often have a history of early feeding
difficulty, limited sound production as infants, and delayed onset of spoken
words. They may point, grunt, or develop an elaborate gestural communication
system in an attempt to overcome their verbal difficulty. Apraxia may be limited
to oral-motor function, or it may be a more generalized problem affecting fine
and/or gross motor coordination.
Phonologic Disorder.
Children with phonologic speech disorder are frequently unintelligible, even to
their parents. Articulation errors are not the result of neuromotor impairment, but
seem to reflect an inability to process correctly the words they hear. As a result,
they lack understanding of how to fit sounds together properly to create words.
In contrast to children with apraxia, those with phonologic disorder are fluent
although unintelligibleand produce a consistent, highly predictable pattern of
articulation errors. Children with phonologic speech disorder are at high risk for
later reading and learning disability.
Hearing Impairment.
Hearing loss can be a major cause of delayed or disordered language
development. Approximately 1630/1,000 children have mild to severe hearing
loss that is significant enough to affect educational progress (see Chapter 636 ).
An additional 1/1,000 children are deaf (profound bilateral hearing loss). Hearing
loss can be present at birth or acquired postnatally. Newborn screening programs
can identify many forms of congenital hearing loss, but progressive hearing loss
or acquired deafness may develop after birth.
The most common types of hearing loss are due to a conductive (middle ear) or
sensorineural deficit. Although it is not possible to predict accurately the effect of
hearing loss on a child's language development, the type and degree of hearing

loss, the age of onset, and the duration of the auditory impairment clearly play
important roles. Children with significant hearing impairment frequently have
problems developing facility with language and often have related academic
difficulties. Presumably, the language impairment is caused by lack of exposure
to fluent language models starting in infancy.
Approximately 30% of hearing impaired children have at least 1 other disability
that often affects the development of speech and language (mental retardation,
cerebral palsy, craniofacial anomalies). Accordingly, any child who shows
developmental warning signs of a speech and language problem should have a
hearing assessment by an audiologist and an examination by a geneticist as part
of a comprehensive evaluation.
Hydrocephalus.
Some children with hydrocephalus are described as having cocktail party
syndrome. Although they may use sophisticated words, their comprehension of
abstract concepts may be limited, and their pragmatic conversational skills may
be weak, resulting in superficial discussion of topics or the appearance of a
monologue.
Dysfluency (Stuttering).[*]
Fluent speech requires timely synchronization of phonatory and articulatory
muscle groups. There is also an important interaction between speech and
language skills. Stuttering involves involuntary frequent repetitions, lengthenings
(prolongations) or arrests (blocks, pauses) of syllables, or sounds that are
exacerbated by emotionally or syntactically demanding speech. The World
Health Organization's definition of stuttering is a disorder in the rhythm of
speech in which the individual knows precisely what he/she wishes to say, but at
the same time may have difficulty saying it because of an involuntary repetition,
prolongation, or cessation of sound. Stuttering often leads to frustration and
avoidance of speaking situations.
* R.M. Kliegman contributed to this topic.

EPIDEMIOLOGY/ETIOLOGY.
Stuttering usually begins at 34 yr of age and is seen more often in males (4:1).
Approximately 35% of preschool children stutter to some degree; only 0.71% of
young adults stutter. Stuttering is common in families. Females and those with a
history of recovery in the family are most likely to have spontaneous recovery by
adolescence. This recovery is not related to the severity of the stuttering.
Stuttering may be due to impaired timing between areas of the brain involved in
language preparation and execution. Adults who stutter and those with fluent
speech activate similar areas of the brain. In addition, adults who stutter

overactivate parts of the motor cortex and cerebellar vermis, show right-sided
laterality, and have no auditory activation on hearing their own speech.
DIAGNOSIS.
Stuttering must be differentiated from the normal developmental dysfluency of
preschool children (Tables 32-3 and 32-4 [3] [4]). Developmental dysfluency is
characterized by brief periods of stuttering that resolve by school age, and it
usually involves whole words, with <10 dysfluences/100 words. The DSM-IV
diagnostic criteria for stuttering are noted in Table 32-2 . Stuttering that persists
and is associated with tics may be a manifestation of Tourette syndrome (see
Chapters 24 and 597.4 ).

TABLE 32-3 -- Differences Between Stuttering and Developmental Dysfluency

BEHAVIOR
STUTTERING
DEVELOPMENTAL DYSFLUENCY
Frequency of syllable repetition per word
2
1
Tempo
Faster than normal
Normal
Airflow
Often interrupted
Rarely interrupted
Vocal tension
Often apparent
Absent
Frequency of prolongations per 100 words
2
1

Duration of prolongation
2 sec
1 sec
Tension
Often present
Absent
Silent pauses within a word
May be present
Absent
Silent pauses before a speech attempt
Unusually long
Not marked
Silent pauses after the dysfluency
May be present
Absent
Articulating postures
May be inappropriate
Appropriate
Reaction to stress
More broken words
No change in dysfluency
Frustration
May be present
Absent
Eye contact
May waver
Normal

Adapted with permission from Van Riper C: The Nature of Stuttering. Englewood
Cliffs, NJ, Prentice-Hall, 1971, p 28. From Lawrence M, Barclay DM III:Stuttering:A
brief review.Am Family Physician 1998;57:21752178.
http://www.aafp.org/afp/980501ap/lawrence.html
.

TABLE 32-4 -- Examples of Normal Dysfluency in Preschoolers

TYPE OF DYSFLUENCY
EXAMPLES
Voiced repetitions
Occasionally 2 word parts (mi milk)

Single-syllable words (I I see you)

Multisyllabic words (Barney Barney is coming!)

Phrases (I want I want Elmo.)

Interjections
We went to the uh cottage.
Revisions:incomplete phrases
I lost my . Where is Daddy going?
Prologations
I am Toooommy Baker.
Tense pauses

Lips together, no sound produced

From Costa D, Kroll R:Stuttering:An update for physicians. CMAJ 2000;162:1849

1855.

TREATMENT.
Preschool children with developmental dysfluency (see Table 32-3 ) can be
observed with parental education and reassurance. Parents should not reprimand
the child or create undue anxiety. Preschool or older children with stuttering
should be referred to a speech pathologist. Therapy is most effective if started
during the preschool period. In addition to the risks noted in Table 32-3 ,
indications for referral include 3 or more dysfluencies/100 syllables (b-b-but; thth-the; you, you, you); avoidances or escapes (pauses, head nod, blinking);
discomfort or anxiety while speaking; and suspicion of an associated neurologic
or psychotic disorder.
Most preschool children respond to interventions taught by speech pathologists
and to behavioral feedback by parents. Parents shouldn't yell at the child, but
should calmly praise periods of fluency (That was smooth) or nonjudgmentally
note episodes of stuttering (That was a bit bumpy). The child can be involved
with self-correction and respond to requests (Can you say that again?) made by
a calm parent.
Older children, adolescents, and adults have also been treated with risperidone
or olanzapine with varying but usually positive results if behavioral speech
therapy is unsuccessful.
RARE CAUSES OF LANGUAGE IMPAIRMENTHyperlexia.
Hyperlexia is the precocious development of reading single words that
spontaneously occurs in some young children (25 yr of age) without specific
instruction. It is typically associated with developmental disorders such as
pervasive developmental disorder (PDD) or SLI. It stands in contrast to
precocious reading development in young children who do not have any other
developmental disorders. Although hyperlexia has been considered a rare and
peculiar symptom associated with autism, it is recognized as a variation seen in
young children with disordered language who do not have the social deficits or
restricted or repetitive behaviors associated with autism. A typical manifestation
is for a child with SLI to read single words orally or to match pictures with single
words. Although hyperlexic children show early and well-developed word

decoding skills, they usually have no precocious ability for comprehension of

text. Rather, text comprehension is closely intertwined with oral comprehension,
and children who have difficulty decoding the syntax of language are also at risk
for reading comprehension problems.
Landau-Kleffner Syndrome (Verbal Auditory Agnosia).
Children with Landau-Kleffner syndrome have a history of normal language
development until they experience a regression in their ability to comprehend
spoken language (verbal auditory agnosia). The regression may be sudden or
gradual, and it usually occurs at 37 yr of age. Expressive language skills
typically deteriorate, and some children may become mute. Despite their
language regression, these children typically retain appropriate play patterns and
the ability to interact in a socially appropriate manner. An EEG may show a
distinct pattern of status epilepticus in sleep (continuous spike wave in slowwave sleep); up to 80% of children with this condition eventually have clinical
seizures. A number of treatment approaches have been reported, including
antiepileptic medication, steroids, and intravenous gamma globulin, with varying
results. The prognosis for return of normal language ability is uncertain, even
with resolution of the EEG abnormality, which may represent an epiphenomenon
of an underlying brain abnormality.
Metabolic and Neurodegenerative Disorders.
(See Part X.) Regression of language development may accompany loss of
neuromotor function at the outset of a number of metabolic diseases, including
lysosomal storage disorders (metachromatic leukodystrophy), peroxisomal
disorders (adrenal leukodystrophy), ceroid lipofuscinosis (Batten disease), and
mucopolysaccharidosis (Hunter disease, Hurler disease). Recently, creatine
transporter deficiency was identified as an X-linked disorder that presents with
language delay in boys and mild learning disability in female carriers.
SCREENING.
At each well child visit, developmental surveillance should include specific
questions about normal language developmental milestones and observations of
the child's behavior. Clinical judgment, defined as eliciting and responding to
parental concerns, can detect the majority of speech and language problems.
Many clinicians use standardized developmental screening questionnaires and
observation checklists designed for use in a pediatric setting (see Chapter 15 ).
All general developmental screening instruments include items about language
development (Denver Developmental Screening Test II [DDST-II], Child
Development Inventory [CDI], Ages and Stages Questionnaire [ASQ], Parents'
Evaluations of Developmental Status [PEDS]). Specific language screening tools
are also available, such as the Early Language Milestone (ELM) Scale and the
Clinical Linguistic and Auditory Milestone Scale (CLAMS). Because of the high
prevalence of speech and language disorders in the general population, referral
to a speech and language pathologist for further evaluation and treatment
should be made whenever there is suspicion of delay. Specific warning signs that

should always prompt referral for comprehensive multidisciplinary

developmental evaluation are shown in Table 32-5 .

TABLE 32-5 -- Warning Signs of Language Problems

Not babbling, pointing, or gesturing by 1012 mo
Not understanding simple commands by 18 mo
Not using any words by 1821 mo
No word combinations by 24 mo
Speech is difficult for parents to understand by 2436 mo
Speech is difficult for others to understand by 3648 mo
Child avoids talking situations
Stuttering of more than tension-free, whole-word repetition
Any regression in language or social skills at any age

NONCAUSES OF LANGUAGE DELAY.

Twinning, birth order, laziness, exposure to multiple languages (bilingualism),
tongue-tie, and otitis media are not adequate explanations for significant
language delay. Normal twins learn to talk at the same age as normal single-born
children, and effects of birth order on language development have not been
consistently found. The drive to communicate and the rewards for successful
verbal interaction are so strong that children who let others talk for them usually
cannot talk for themselves and are not lazy. Toddlers who are exposed to >1
language may show a mild delay in starting to talk, and they may initially mix
elements (vocabulary and syntax) of the different languages they are learning
(code switching). However, they learn to segregate the languages by 2430 mo
and are equal to their monolingual peers by 3 yr of age. An extremely tight
lingual frenulum (tongue-tie) may affect feeding and speech articulation, but will
not prevent the acquisition of language abilities. Frequent ear infections and/or
serous otitis media in early childhood do not result in language disorder.
DIAGNOSTIC EVALUATION.
It is important to distinguish developmental delay (abnormal timing) from
developmental disorder (abnormal patterns or sequences). A child's language
and communication skills must also be interpreted within the context of his or

her overall cognitive and physical abilities. It is important to evaluate the child's
use of language to communicate with others in the broadest sense
(communicative intent). Thus, a multidisciplinary evaluation is often warranted.
At a minimum, this should include psychologic evaluation, neurologic
assessment, and speech and language examination.
Psychologic Evaluation.
There are 2 main goals for the psychologic evaluation of a young child with a
communication disorder. Nonverbal cognitive ability must be assessed to
determine if the child is mentally retarded, and the child's social behaviors must
be assessed to determine whether autism or a form of PDD is present. Additional
diagnostic considerations may include emotional disorders such as anxiety,
depression, mood disorders, obsessive-compulsive disorder, academic learning
disorders, and attention-deficit/hyperactivity disorder.
COGNITIVE ASSESSMENT.
Mental retardation is defined as retardation in the development of cognitive
abilities and adaptive behaviors. Children with mental retardation show delayed
development of communication skills; delayed communication does not
necessarily signal mental retardation. Therefore, a broad-based cognitive
assessment is an important component of the evaluation of children with
language delays, including evaluation of both verbal and nonverbal skills. If a
child has mental retardation, both verbal and nonverbal scores will be low
compared with norms (2nd percentile). In contrast, a typical cognitive profile
for a child with SLI will include a significant difference between nonverbal and
verbal abilities, with nonverbal IQ > verbal IQ and the nonverbal score within the
average range.
EVALUATION OF SOCIAL BEHAVIORS.
Social interest is the key difference between children with a primary language
disorder (e.g., SLI) and those with a communication disorder secondary to autism
or PDD. Children with SLI have an interest in social interaction, but may have
difficulty acting on this interest because of their limitations to communication. In
contrast, autistic children show little social interest. Four key nonverbal behaviors
that are often shown by children with SLIbut not autistic children (especially
toddlers and preschoolers)are joint attention, affective reciprocity, pretend
play, and direct imitation.
RELATIONSHIP OF LANGUAGE AND SOCIAL BEHAVIORS TO MENTAL AGE.
Cognitive assessment provides a mental age for the child, and the child's
behavior must be evaluated in that context. Whereas most 4 yr old children
engage peers in interactive play, most 2 yr olds are playful, but primarily focused
on interactions with adult caretakers. A 4 yr old with mild to moderate mental
retardation and a mental age of 2 yr may not play with peers; however, this is
because of cognitive limitation, not a lack of desire for social interaction.

Speech and Language Evaluation.

A certified speech-language pathologist should perform a speech and language
evaluation. A typical evaluation includes assessment of language, speech, and
the physical mechanisms associated with speech production. Both expressive
and receptive language is assessed by a combination of standardized measures
and informal interactions and observations. All components of language are
assessed, including syntax, semantics, pragmatics, and fluency. Speech
assessment similarly uses a combination of standardized measures and informal
observations. Assessment of physical structures includes oral structures and
function, respiratory function, and vocal quality. A speech-language pathologist
often works with an audiologist, who can perform an appropriate hearing
evaluation. If an audiologist is not available in that setting, then a separate
referral should be made. No child is too young for a speech-language or hearing
evaluation. A referral for evaluation is appropriate whenever language
impairment is suspected.
Medical Evaluation.
A careful history and physical examination should focus on the identification of
potential contributors to the child's language and communication difficulties. A
family history of delay in talking, the need for speech and language therapy, or
academic difficulty may suggest a genetic predisposition to language disorders.
Pregnancy history may show risk factors for prenatal developmental anomalies,
such as polyhydramnios or decreased fetal movement patterns. Speech and
language difficulty is more likely to occur in a child who is small-for-gestationalage at birth, who has symptoms of neonatal encephalopathy, or who has early
and persistent oral-motor feeding difficulty. The developmental history should
focus both on the age at which various language skills were mastered and on the
sequences and patterns of milestone acquisition. Regression or loss of acquired
skills should raise immediate concern. Physical examination should include
measurement of height (length), weight, and head circumference. The skin
should be examined for lesions consistent with phakomatosis (tuberous sclerosis,
neurofibromatosis, Sturge-Weber syndrome) and other disruptions of pigment
(hypomelanosis of Ito). Anomalies of the head and neck, such as white forelock
and hypertelorism (Waardenburg syndrome), ear malformations (Goldenhar
syndrome), facial and cardiac anomalies (Williams syndrome, velocardiofacial
syndrome), retrognathism of the chin (Pierre-Robin anomaly), or cleft lip and/or
palate, are associated with hearing and speech abnormalities. Neurologic
examination may show muscular hypertonia or hypotonia, both of which may
affect neuromuscular control of speech. Generalized muscular hypotonia, with
increased range of motion of the joints, is commonly seen in children with SLI.
The reason for this association is not clear, but it may account for the fine and
gross motor clumsiness often seen in these children. Mild hypotonia is not a
sufficient explanation for the impairments of expressive and receptive language.
No routine diagnostic studies are indicated for SLI or isolated language disorders.
When language delay is part of a generalized cognitive or physical disorder,

referral for further genetic evaluation, chromosome testing (including fragile X

testing), neuroimaging studies, and EEG may be considered, if clinically
indicated.
TREATMENT.
The federal IDEA laws (Individuals with Disabilities Education Act) require that
schools provide special education services to children who have learning
difficulties. This includes children with speech and language disorders. Services
are provided to children from birth through 21 yr of age. Each state has various
methods for providing services, and for young children, these can include birth
3, early childhood, and early learning programs. These programs provide speechlanguage therapy as part of public education, in conjunction with other special
education resources. Children can also receive therapy from nonprofit service
agencies, hospital and rehabilitation centers, and speech pathologists in private
practice.
Speech-language therapy includes a variety of goals. Sometimes both speech
and language activities are incorporated into therapy. Speech goals focus on the
development of more intelligible speech. Language goals can focus on expanding
vocabulary (lexicon) and understanding of the meaning of words (semantics),
improving syntax by using proper forms or learning to expand single words into
sentences, and social use of language (pragmatics). Therapy can include
individual sessions, group sessions, and mainstream classroom integration.
Individual sessions may use either drill activities for older children or play
activities for younger children, to target specific goals. Group sessions can
include several children with similar language goals to help them practice peer
communication activities and bridge the gap into more naturalistic
communication situations. Classroom integration may include the therapist
team-teaching or consulting with the teacher to facilitate the child's use of
language in common academic situations.
For children with severe language impairment, alternative methods of
communication are often included in therapy. These may include the use of
manual sign language or the use of pictures (Picture Exchange Communication
System [PECS]). Often the ultimate goal is to achieve better spoken language.
Early use of sign language or pictures can help the child to establish better
functional communication and understand the symbolic nature of words to
facilitate the language process. There is no evidence that the use of signs or
pictures will interfere with the development of oral language if the child has the
capacity to speak. Furthermore, many clinicians believe that these alternative
methods accelerate the learning of language. They also reduce the frustration of
parents and children who cannot communicate for basic needs.
Parents can consult with their child's speech-language therapist about home
activities to enhance language development and extend therapy activities
through appropriate language stimulation activities and recreational reading.
Parent language activities should focus on emerging communication skills that
are within the child's repertoire, rather than teaching the child new skills. The

speech pathologist can guide parents in effective modeling and eliciting

communication from their child.
Recreational reading focuses on expanding the child's comprehension of
language. Sometimes the child's avoidance of reading is a sign that the parent is
presenting material that is too complex. The speech-language therapist can
guide the parent in selecting an appropriate level of reading material.
PROGNOSIS.
Although the majority of children improve their communication ability with time,
5080% of preschoolers with language delay and normal nonverbal intelligence
continue to show language difficulties up to 20 yr beyond the initial diagnosis.
Early language difficulty is strongly related to later reading disorders.
Approximately 50% of children with early language difficulty later have a reading
disorder, and 55% of children with a reading disorder have a history of impaired
early oral language development. Children who eventually manifest a specific
reading disorder produced fewer words per utterance, expressed less
complicated sentences, and showed more pronunciation difficulties at 23 yr of
age compared with nonreading-disordered peers. By 5 yr of age, verbal
sentence complexity has little predictive power, but expressive vocabulary and
phonologic awareness of words (the ability to manipulate the component sounds
of words) are highly correlated with later reading achievement.
Comorbid Psychiatric Disorders.
Early language disorders, particularly difficulty with auditory comprehension,
appear to be a specific risk factor for later emotional dysfunction. Boys and girls
with language disorders have a higher than expected rate of anxiety disorders
(principally social phobia). Boys with language disorders are more likely to have
symptoms of attention-deficit/hyperactivity disorder, conduct disorder, and
antisocial personality disorder compared with normally developing peers.
Language disorders are common in children referred for psychiatric services, but
they are frequently underdiagnosed and their effect on children's behavior and
emotional development is often overlooked.
Preschoolers with language difficulty commonly express their frustration through
anxious, socially withdrawn, or aggressive behaviors. As their ability to
communicate improves, parallel improvements are usually noted in their
behavior, suggesting a cause and effect relationship between language and
behavior. However, the persistence of emotional and behavioral problems over
the life span of individuals with early language disability is suggestive of a strong
biologic or genetic connection between language development and subsequent
emotional disorders.
ROLE OF PEDIATRICIANS.
Evaluation of children's language development should be an important
component of every well child supervision visit. All children who appear to have

delayed speech or language should be referred for further assessment and

treatment.
Children with symptoms of mental retardation, birth defect syndromes, or
neuromotor impairment should be referred for comprehensive multidisciplinary
evaluation to identify a specific etiology for their developmental disorder. The
child with speech and language disorder may experience social and behavioral
difficulties interacting with peers. These difficulties should be evaluated in the
context of the child's functional language and mental age. Anxiety disorders may
require behavioral and/or psychopharmacologic interventions. Throughout the
school years, children should be monitored for evidence of reading disorders.
Most children with language disorders can improve their communication ability
through a process of educational programs and speech-language therapy. The
physician can help the parents to understand that improvement is a long
developmental process guided by teachers and therapists. Many parents
question if the child will catch up to his or her peers. Sometimes that occurs, but
not all the time. Although most children show significant improvement in
communication ability as they grow, language disorders appear to persist over
the life span in the majority of affected individuals.
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