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Language Development and Communication Disorders

Language Development and Communication Disorders

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Language Development and Communication Disorders

Language Development and Communication Disorders

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Chapter 52  ◆  Language Development and Communication Disorders  273

Chapter 52 
Language Development
and Communication
Disorders
Mark D. Simms

Most children learn to communicate in their native language without


specific instruction or intervention other than exposure to a language-rich
environment. Normal development of speech and language is predicated
on the infant’s ability to hear, see, comprehend, remember, and socially
interact with others. The infant must also possess sufficient motor skills
to imitate oral motor movements.

NORMAL LANGUAGE DEVELOPMENT


Language can be subdivided into several essential components. Com-
munication 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
together coherently 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

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Chapter 52  ◆  Language Development and Communication Disorders  273.e1

Keywords
communication
phonology
semantics
syntax
pragmatics
receptive language development
expressive language development
specific language impairment
SLI
developmental dysphasia
social (pragmatic) communication disorder
SPCD
autism spectrum disorder
ASD
autistic regression
Asperger syndrome
selective mutism
anxiety disorder
isolated expressive language disorder
dysarthria
childhood apraxia of speech
speech sound disorder
hydrocephalus
hyperlexia
Landau-Kleffner syndrome
verbal auditory agnosia

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274  Part IV  ◆  Learning and Developmental Disorders

Table 52.1  Normal Language Milestones: Birth to 5 Years


HEARING AND UNDERSTANDING TALKING
BIRTH TO 3 MONTHS
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
4-6 MONTHS
Moves eyes in direction of sounds Babbling sounds more speech-like, with many different sounds, including
Responds to changes in tone of your voice p, b, and m
Notices toys that make sounds Vocalizes excitement and displeasure
Pays attention to music Makes gurgling sounds when left alone and when playing with you
7 MONTHS TO 1 YEAR
Enjoys games such as peek-a-boo and pat-a-cake Babbling has both long and short groups of sounds, such as tata upup
Turns and looks in direction of sounds bibibibi.
Listens when spoken to Uses speech or noncrying sounds to get and keep attention
Recognizes words for common items, such as cup, shoe, and juice Imitates different speech sounds
Begins to respond to requests (Come here; Want more?) Has 1 or 2 words (bye-bye, dada, mama), although they might not be
clear
1-2 YEARS
Points to a few body parts when asked Says more words every month
Follows simple commands and understands simple questions Uses some 1-2 word questions (Where kitty? Go bye-bye? What’s that?)
(Roll the ball; Kiss the baby; Where’s your shoe?) Puts 2 words together (more cookie, no juice, mommy book)
Listens to simple stories, songs, and rhymes Uses many different consonant sounds at the beginning of words
Points to pictures in a book when named
2-3 YEARS
Understands differences in meaning (e.g., go–stop, in–on, Has a word for almost everything
big–little, up–down) Uses 2-3 word “sentences” to talk about and ask for things
Follows 2-step requests (Get the book and put it on the table.) Speech is understood by familiar listeners most of the time
Often asks for or directs attention to objects by naming them
3-4 YEARS
Hears you when you call from another room Talks about activities at school or at friends’ homes
Hears television or radio at the same loudness level as other family Usually understood by people outside the family
members Uses a lot of sentences that have ≥4 words
Understands simple who, what, where, why questions Usually talks easily without repeating syllables or words
4-5 YEARS
Pays attention to a short story and answers simple questions Voice sounds as clear as other children’s
about it Uses sentences that include details (I like to read my books)
Hears and understands most of what is said at home and in school 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
Adapted from American Speech-Language-Hearing Association, 2005. http://www.asha.org/public/speech/development/chart.htm.

and circumstance and the appropriate use of body language (i.e., posture, infants of monolingual mothers showed a preference for only that
eye contact, gestures). Social pragmatic and behavioral skills also play language, whereas infants of bilingual mothers showed a preference for
an important role in effective interactions with communication partners both exposed languages over any other language.
(i.e., engaging, responding, and maintaining reciprocal exchanges). Between 4 and 6 mo, infants visually search for the source of sounds,
It is customary to divide language skills into receptive (hearing and again showing a preference for the human voice over other environmental
understanding) and expressive (talking) abilities. Language development sounds. By 6 mo, infants can passively follow the adult’s line of visual
usually follows a fairly predictable pattern and parallels general intellectual regard, resulting in a “joint reference” to the same objects and events
development (Table 52.1). in the environment. The ability to share the same experience is critical
to the development of further language, social, and cognitive skills as
Receptive Language Development the infant “maps” specific meanings onto his or her experiences. By
The peripheral auditory system is mature by 26 wk gestation, and the 8-9 mo, the infant can actively show, give, and point to objects. Com-
fetus responds to and discriminates speech sounds. Anatomic asymmetry prehension of words often becomes apparent by 9 mo, when the infant
in the planum temporale, the structural brain region specialized for selectively responds to his or her name and appears to comprehend the
language processing, is present by 31 wk gestation. At birth, the full-term word “no.” Social games, such as “peek-a-boo,” “so big,” and waving
newborn appears to have functionally organized neural networks that “bye-bye” can be elicited by simply mentioning the words. At 12 mo,
are sensitive to different properties of language input. The normal many children can follow a simple, 1-step request without a gesture
newborn demonstrates preferential response to human voices over (e.g., “Give it to me”).
inanimate sound and recognizes the mother’s voice, reacting stronger Between 1 and 2 yr, comprehension of language accelerates rapidly.
to it than to a stranger’s voice. Even more remarkable is the ability of Toddlers can point to body parts on command, identify pictures in
the newborn to discriminate sentences in their “native” (mother’s) books when named, and respond to simple questions (e.g., “Where’s
language from sentences in a “foreign” language. In research settings, your shoe?”). The 2 yr old is able to follow a 2-step command, employing

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Chapter 52  ◆  Language Development and Communication Disorders  275

unrelated tasks (e.g., “Take off your shoes, then go sit at the table”), who follow a holistic or gestalt learning pattern might start by using
and can point to objects described by their use (e.g., “Give me the one relatively large chunks of speech in familiar contexts. They might
we drink from”). By 3 yr, children typically understand simple “wh-” memorize familiar phrases or dialog from movies or stories and repeat
question forms (e.g., who, what, where, why). By 4 yr, most children them in an overgeneralized fashion. Their sentences often have a formulaic
can follow adult conversation. They can listen to a short story and pattern, reflecting inadequate mastery of the use of grammar to flexibly
answer simple questions about it. A 5 yr old typically has a receptive and spontaneously combine words appropriately in the child’s own
vocabulary of more than 2000 words and can follow 3- and 4-step unique utterance. Over time, these children gradually break down the
commands. meanings of phrases and sentences into their component parts, and
they learn to analyze the linguistic units of these memorized forms. As
Expressive Language Development this occurs, more original speech productions emerge, and the child is
Cooing noises are established by 4-6 wk of age. Over the 1st 3 mo of able to assemble thoughts in a more flexible manner. Both analytic and
life, parents may distinguish their infant’s different vocal sounds for holistic learning processes are necessary for normal language development
pleasure, pain, fussing, tiredness, and so on. Many 3 mo old infants to occur.
vocalize in a reciprocal fashion with an adult to maintain a social
interaction (“vocal tennis”). By 4 mo, infants begin to make bilabial LANGUAGE AND COMMUNICATION DISORDERS
(“raspberry”) sounds, and by 5 mo, monosyllables and laughing are Epidemiology
noticeable. Between 6 and 8 mo, polysyllabic babbling (“lalala” or Disorders of speech and language are very common in preschool-age
“mamama”) is heard, and the infant might begin to communicate with children. Almost 20% of 2 yr olds are thought to have delayed onset of
gestures. Between 8 and 10 mo, babbling makes a phonologic shift language. By age 5 yr, approximately 6% of children are identified as
toward the particular sound patterns of the child’s native language (i.e., having a speech impairment, 5% as having both speech and language
they produce more native sounds than nonnative sounds). At 9-10 mo, impairment, and 8% as having language impairment. Boys are nearly
babbling becomes truncated into specific words (e.g., “mama,” “dada”) twice as likely to have an identified speech or language impairment
for their parents. as girls.
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 Etiology
might appear to come and go from the child’s repertoire until a stable Normal language ability is a complex function that is widely distributed
group of 10 or more words is established. The rate of acquisition of across the brain through interconnected neural networks that are
new words is approximately 1 new word per week at 12 mo, but it synchronized for specific activities. Although clinical similarities exist
accelerates to approximately 1 new word per day by 2 yr. The first words between acquired aphasia in adults and childhood language disorders,
to appear are used primarily to label objects (nouns) or to ask for objects unilateral focal lesions acquired in early life do not seem to have the
and people (requests). By 18-20 mo, toddlers should use a minimum same effects in children as in adults. Risk factors for neurologic injury
of 20 words and produce jargon (strings of word-like sounds) with are absent in the vast majority of children with language impairment.
language-like inflection patterns (rising and falling speech patterns). Genetic factors appear to play a major role in influencing how children
This jargon usually contains some embedded true words. Spontaneous learn to talk. Language disorders cluster in families. A careful family
2-word phrases (pivotal speech), consisting of the flexible juxtaposition history may identify current or past speech or language problems in
of words with clear intention (e.g., “Want juice!” or “Me down!”), is up to 30% of first-degree relatives of proband children. Although children
characteristic of 2 yr olds and reflects the emergence of grammatical exposed to parents with language difficulty might be expected to experi-
ability (syntax). ence poor language stimulation and inappropriate language modeling,
Two-word, combinational phrases do not usually emerge until children studies of twins have shown the concordance rate for low language test
have acquired 50-100 words in their lexicon. Thereafter, the acquisition score and/or a history of speech therapy to be approximately 50% in
of new words accelerates rapidly. As knowledge of grammar increases, dizygotic pairs, rising to over 90% in monozygotic pairs. Despite strong
there is a proportional increase in verbs, adjectives, and other words evidence that language disorders have a genetic basis, consistent genetic
that serve to define the relation between objects and people (predicates). mutations have not been identified. Instead, multiple genetic regions
By 3 yr, sentence length increases, and the child uses pronouns and and epigenetic changes may result in heterogeneous genetic pathways
simple present-tense verb forms. These 3-5 word sentences typically causing language disorders. Some of these genetic pathways disrupt the
have a subject and verb but lack conjunctions, articles, and complex timing of early prenatal neurodevelopmental events affecting migration
verb forms. The Sesame Street character Cookie Monster (“Me want of nerve cells from the germinal matrix to the cerebral cortex. Several
cookie!”) typifies the “telegraphic” nature of the 3 yr old’s sentences. single nucleotide polymorphisms (SNPs) involving noncoding regulatory
By 4-5 yr, children should be able to carry on conversations using genes, including CNTNAP2 (contactin-associated-protein-like-2) and
adult-like grammatical forms and use sentences that provide details KIAA0319, are strongly associated with early language acquisition and
(e.g., “I like to read my books”). are also believed to affect early neuronal structural development.
In addition, other environmental, hormonal, and nutritional factors
Variations of Normal may exert epigenetic influences by dysregulating gene expression and
Language milestones have been found to be largely universal across resulting in aberrant sequencing of the onset, growth, and timing of
languages and cultures, with some variations depending on the complexity language development.
of the grammatical structure of individual languages. In Italian (where
verbs often occupy a prominent position at the beginning or end of Pathogenesis
sentences), 14 mo olds produce a greater proportion of verbs compared Language disorders are associated with a fundamental deficit in the
with English speaking infants. Within a given language, development brain’s capacity to process complex information rapidly. Simultaneous
usually follows a predictable pattern, paralleling general cognitive evaluation of words (semantics), sentences (syntax), prosody (tone of
development. Although the sequences are predictable, the exact timing voice), and social cues can overtax the child’s ability to comprehend
of achievement is not. There are marked variations among normal and respond appropriately in a verbal setting. Limitations in the amount
children in the rate of development of babbling, comprehension of of information that can be stored in verbal working memory can further
words, production of single words, and use of combinational forms limit the rate at which language information is processed. Electrophysi-
within the first 2-3 yr of life. ologic studies show abnormal latency in the early phase of auditory
Two basic patterns of language learning have been identified, analytic processing in children with language disorders. Neuroimaging studies
and holistic. The analytic pattern is the most common and reflects the identify an array of anatomic abnormalities in regions of the brain that
mastery of increasingly larger units of language form. The child’s analytic are central to language processing. MRI scans in children with specific
skills proceed from simple to more complex and lengthy forms. Children language impairment (SLI) may reveal white matter lesions and volume

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276  Part IV  ◆  Learning and Developmental Disorders

Table 52.2  DSM-5 Diagnostic Criteria for Communication Disorders


Language Disorder Social (Pragmatic) Communication Disorder
A Persistent difficulties in the acquisition and use of language across A. Persistent difficulties in the social use of verbal and nonverbal
modalities (i.e., spoken, written, sign language, or other) due to communication as manifested by all of the following:
deficits in comprehension or production that include the 1. Deficits in using communication for social purposes, such as
following: greeting and sharing information, in a manner that is
1. Reduced vocabulary (word knowledge and use). appropriate for the social context.
2. Limited sentence structure (ability to put words and word 2. Impairment of the ability to change communication to match
endings together to form sentences based on the rules of context or the needs of the listener, such as speaking
grammar and morphology). differently in a classroom than on a playground, talking
3. Impairments in discourse (ability to use vocabulary and connect differently to a child than to an adult, and avoiding use of
sentences to explain or describe a topic or series of events or overly formal language.
have a conversation). 3. Difficulties following rules for conversation and storytelling,
B. Language abilities are substantially and quantifiably below those such as taking turns in conversation, rephrasing when
expected for age, resulting in functional limitations in effective misunderstood, and knowing how to use verbal and nonverbal
communication, social participation, academic achievement, or signals to regulate interaction.
occupational performance, individually or in any combination. 4. Difficulties understanding what is not explicitly stated (e.g.,
C. Onset of symptoms is in the early developmental period. making inferences) and nonliteral or ambiguous meanings of
D. The difficulties are not attributable to hearing or other sensory language (e.g., idioms, humor, metaphors, multiple meanings
impairment, motor dysfunction, or another medical or neurologic that depend on the context for interpretation).
condition and are not better explained by intellectual disability B. The deficits result in functional limitations in effective
(intellectual developmental disorder) or global developmental communication, social participation, social relationships,
delay. academic achievement, or occupational performance, individually
or in combination.
Speech Sound Disorder C. The onset of the symptoms is in the early developmental period
A. Persistent difficulty with speech sound production that interferes (but deficits may not become fully manifest until social
with speech intelligibility or prevents verbal communication of communication demands exceed limited capacities).
messages. D. The symptoms are not attributable to another medical or
B. The disturbance causes limitations in effective communication neurologic condition or to low abilities in the domains of word
that interfere with social participation, academic achievement, or structure and grammar, and are not better explained by autism
occupational performance, individually or in any combination. spectrum disorder, intellectual disability (intellectual
C. Onset of symptoms is in the early developmental period. developmental disorder), global developmental delay, or another
D. The difficulties are not attributable to congenital or acquired mental disorder.
conditions, such as cerebral palsy, cleft palate, deafness or
hearing loss, traumatic brain injury, or other medical or
neurologic conditions.
From the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, (Copyright 2013). American Psychiatric Association, pp 42, 44, 47–48.

loss, ventricular enlargement, focal gray matter heterotopia within the communication (Table 52.2). In clinical practice, childhood speech and
right and left parietotemporal white matter, abnormal morphology of language disorders occur as a number of distinct entities.
the inferior frontal gyrus, atypical patterns of asymmetry of language
cortex, or increased thickness of the corpus callosum in a minority of Language Disorder or Specific Language Impairment
affected children. Postmortem studies of children with language disorders The condition DSM-5 refers to as language disorder is also referred
found evidence of atypical symmetry in the plana temporale and cortical to as specific language impairment (SLI), developmental dysphasia,
dysplasia in the region of the sylvian fissure. In support of a genetic or developmental language disorder. SLI is characterized by a significant
mechanism affecting cerebral development, a high rate of atypical discrepancy between the child’s overall cognitive level (typically nonverbal
perisylvian asymmetries has also been documented in the parents of measures of intelligence) and functional language level. These children
children with SLI. also follow an atypical pattern of language acquisition and use. Closer
examination of the child’s skills might reveal deficits in understanding
Clinical Manifestations and use of word meaning (semantics) and grammar (syntax). Often,
Primary disorders of speech and language development are often found children are delayed in starting to talk. Most significantly, they usually
in the absence of more generalized cognitive or motor dysfunction. have difficulty understanding spoken language. The problem may stem
However, disorders of communication are also the most common from insufficient understanding of single words or from the inability
comorbidities in persons with generalized cognitive disorders (intellectual to deconstruct and analyze the meaning of sentences. Many affected
disability or autism), structural anomalies of the organs of speech (e.g., children show a holistic pattern of language development, repeating
velopharyngeal insufficiency from cleft palate), and neuromotor condi- memorized phrases or dialog from movies or stories (echolalia). In
tions affecting oral motor coordination (e.g., dysarthria from cerebral contrast to their difficulty with spoken language, children with SLI
palsy or other neuromuscular disorders). appear to learn visually and demonstrate their ability on nonverbal tests
of intelligence.
Classification After children with SLI become fluent talkers, they are generally less
Each professional discipline has adopted a somewhat different classifica- proficient at producing oral narratives than their peers. Their stories
tion system, based on cluster patterns of symptoms. The American tend to be shorter and include fewer propositions, main story ideas, or
Psychiatric Association (APA) Diagnostic and Statistical Manual of story grammar elements. Older children include fewer mental state
Mental Disorders, Fifth Edition (DSM-5) organized communication descriptions (e.g., references to what their characters think and how
disorders into: (1) language disorder (which combines expressive and they feel). Their narratives contain fewer cohesive devices, and the story
mixed receptive-expressive language disorders), speech sound disorder line may be difficult to follow.
(phonologic disorder), and childhood-onset fluency disorder (stuttering); Many children with SLI show difficulties with social interaction,
and (2) social (pragmatic) communication disorder, which is character- particularly with same-age peers. Social interaction is mediated by oral
ized by persistent difficulties in the social uses of verbal and nonverbal communication, and a child deficient in communication is at a distinct

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Chapter 52  ◆  Language Development and Communication Disorders  277

disadvantage in the social arena. Children with SLI tend to be more


dependent on older children or adults, who can adapt their communica-
tion to match the child’s level of function. Generally, social interaction Language Disorders
skills are more closely correlated with language level than with nonverbal
cognitive level. Using this as a guide, one usually sees a developmental
progression of increasingly more sophisticated social interaction as the Intellectual
Autism
child’s language abilities improve. In this context, social ineptitude is Disability
not necessarily a sign of asocial distancing (e.g., autism) but rather a
delay in the ability to negotiate social interactions.

Higher-Level Language Disorder


As children mature, the ability to communicate effectively with others
depends on mastery of a range of skills that go beyond basic understand- Fig. 52.1  Relationship of autism, language disorders, and intellectual
disability. (From Simms MD, Schum RL: Preschool children who have
ing of words and rules of grammar. Higher-level language skills include
atypical patterns of development, Pediatr Rev 21:147–158, 2000.)
the development of advanced vocabulary, the understanding of word
relationships, reasoning skills (including drawing correct inferences
and conclusions), the ability to understand things from another person’s
perspective, and the ability to paraphrase and rephrase with ease. In
addition, higher-order language abilities include pragmatic skills that ability). Parents report regression in language and social skills (autistic
serve as the foundation for social interactions. These skills include regression) in approximately 20–25% of children with ASD, usually
knowledge and understanding of one’s conversational partner, knowledge between 12 and 36 mo of age. The cause of the regression is not known,
of the social context in which the conversation is taking place, and but it tends to be associated with an increased risk for comorbid intel-
general knowledge of the world. Social and linguistic aspects of com- lectual disability and more severe ASD (Fig. 52.1).
munication are often difficult to separate, and persons who have trouble
interpreting these relatively abstract aspects of communication typically Asperger Syndrome
experience difficulty forming and maintaining relationships. Asperger syndrome is characterized by difficulties in social interaction,
DSM-5 identified social (pragmatic) communication disorder eccentric behaviors, and abnormally intense and circumscribed interests
(SPCD) as a category of communication disorder (Table 52.2). Symptoms despite normal cognitive and verbal ability. Affected individuals may
of pragmatic difficulty include extreme literalness and inappropriate engage in long-winded, verbose monologs about their topics of special
verbal and social interactions. Proper use and understanding of humor, interest, with little regard to the reaction of others. Adults with Asperger
slang, and sarcasm depend on correct interpretation of the meaning syndrome generally have a more favorable prognosis of than those with
and the context of language and the ability to draw proper inferences. “classic” autism. Prior to 2013, Asperger syndrome was classified as
Failure to provide a sufficient referential base to one’s conversational distinct from autism; however, DSM-5 no longer recognizes Asperger
partner—to take the perspective of another person—results in the as a separate neurodevelopmental disorder. More severely affected
appearance of talking or behaving randomly or incoherently. SPCD individuals are now considered to be at the “high functioning” end of
often occurs in the context of another language disorder and has been the autism spectrum (see Chapter 54), whereas mildly impaired individu-
recognized as a symptom of a wide range of disorders, including right- als may be diagnosed with SPCD.
hemisphere damage to the brain, Williams syndrome, and nonverbal
learning disabilities. SPCD can also occur independently of other Selective Mutism
disorders. Children with autism spectrum disorder (ASD) often have Selective mutism is defined as a failure to speak in specific social situ-
symptoms of SPCD, but SPCD is not diagnosed in these children because ations despite speaking in other situations, and it is typically a symptom
the symptoms are a component of ASD. In school settings, children of an underlying anxiety disorder. Children with selective mutism can
with SPCD may be socially ostracized and bullied. speak normally in certain settings, such as within their home or when
they are alone with their parents. They fail to speak in other social
Intellectual Disability settings, such as at school or at other places outside their home. Other
Most children with a mild degree of intellectual disability learn to talk symptoms associated with selective mutism can include excessive shyness,
at a slower-than-normal rate; they follow a normal sequence of language withdrawal, dependency on parents, and oppositional behavior. Most
acquisition and eventually master basic communication skills. Difficulties cases of selective mutism are not the result of a single traumatic event,
may be encountered with higher-level language concepts and use. Persons but rather the manifestation of a chronic pattern of anxiety. Mutism is
with moderate to severe degrees of intellectual disability can have great not passive-aggressive behavior. Selectively mute children often report
difficulty in acquiring basic communication skills. About half of persons that they want to speak in social settings but are afraid to do so. Often,
with an intelligence quotient (IQ) of <50 can communicate using single one or both parents of a child with selective mutism has a history of
words or simple phrases; the rest are typically nonverbal. anxiety symptoms, including childhood shyness, social anxiety, or panic
attacks. Mutism is highly functional for the child in that it reduces
Autism Spectrum Disorder anxiety and protects the child from the perceived challenge of social
A disordered pattern of language development is one of the core features interaction. Treatment of selective mutism should utilize cognitive
of ASD (see Chapter 54). The language profile of children with ASD is behavioral strategies focused on reducing the general anxiety and
often indistinguishable from that in children with SLI or SPCD. The increasing speaking in social situation (see Chapter 38). Occasionally,
key characteristics of ASD that distinguish it from SLI or SPCD are selective serotonin reuptake inhibitors are helpful in conjunction with
lack of reciprocal social relationships; limitation in the ability to develop cognitive-behavioral therapy. Selective mutism reflects a difficulty of
functional, symbolic, or pretend play; hyper- or hyporeactivity to sensory social interaction, not a disorder of language processing.
input; and an obsessive need for sameness and resistance to change.
Approximately 40% of children with ASD also have intellectual disability, Isolated Expressive Language Disorder
which can limit their ability to develop functional communication skills. More often seen in boys than girls, isolated expressive language disorder
Language abilities can range from absent to grammatically intact, but (“late talker syndrome”) is a diagnosis best made in retrospect. These
with limited pragmatic features and odd prosody patterns. Some individu- children have age-appropriate receptive language and social ability. Once
als with ASD have highly specialized, but isolated, “savant” skills, such they start talking, their speech is clear. There is no increased risk for
as calendar calculations and hyperlexia (the precocious ability to language or learning disability as they progress through school. A family
recognize written words beyond expectation based on general intellectual history of other males with a similar developmental pattern is often

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278  Part IV  ◆  Learning and Developmental Disorders

reported. This pattern of language development likely reflects a variation conversational skills are weak. As a result, they speak superficially about
of normal. topics and appear to be carrying on a monolog (see Chapter 609.11).

MOTOR SPEECH DISORDERS RARE CAUSES OF LANGUAGE IMPAIRMENT


Dysarthria Hyperlexia
Motor speech disorders can originate from neuromotor disorders such Hyperlexia is the precocious development of reading single words that
as cerebral palsy, muscular dystrophy, myopathy, and facial palsy. The spontaneously occurs in some young children (2-5 yr) without specific
resulting dysarthria affects both speech and nonspeech functions (smiling instruction. It is often associated with ASD or SLI. It stands in contrast
and chewing). Lack of strength and muscular control manifests as slur- to precocious reading development in young children who do not have
ring of words and distorting of vowels. Speech patterns are often slow any other developmental disorders. A typical manifestation is a child
and labored. Poor velopharyngeal function can result in mixed nasal with SLI orally reading single words or matching pictures with single
resonance (hyper- or hyponasal speech). In many cases, feeding difficulty, words. Although hyperlexic children show early and well-developed
drooling, open-mouth posture, and protruding tongue accompany the word-decoding skills, they usually do not have precocious ability for
dysarthric speech. comprehension of text. Rather, text comprehension is closely intertwined
with oral comprehension, and children who have difficulty decoding
Childhood Apraxia of Speech the syntax of language are also at risk for having reading comprehension
Difficulty in planning and coordinating movements for speech production problems.
can result in inconsistent distortion of speech sounds. The same word
may be pronounced differently each time. Intelligibility tends to decline Landau-Kleffner Syndrome
as the length and complexity of the child’s speech increases. Consonants (Verbal Auditory Agnosia)
may be deleted and sounds transposed. As they try to talk spontaneously, Children with Landau-Kleffner syndrome have a history of normal
or imitate other’s speech, children with childhood apraxia of speech language development until they experience a regression in their ability
may display oral groping or struggling behaviors. Children with childhood to comprehend spoken language, verbal auditory agnosia. The regression
apraxia of speech frequently have a history of early feeding difficulty, may be sudden or gradual, and it usually occurs between 3 and 7 yr of
limited sound production as infants, and delayed onset of spoken words. age. Expressive language skills typically deteriorate, and some children
They may point, grunt, or develop an elaborate gestural communication may become mute. Despite their language regression, these children
system in an attempt to overcome their verbal difficulty. Apraxia may typically retain appropriate play patterns and the ability to interact in
be limited to oral-motor function, or it may be a more generalized a socially appropriate manner. An electroencephalogram (EEG) might
problem affecting fine and/or gross motor coordination. show a distinct pattern of status epilepticus in sleep (continuous spike
wave in slow-wave sleep), and up to 80% of children with Landau-Kleffner
Speech Sound Disorder syndrome eventually exhibit clinical seizures. A number of treatment
Children with speech sound disorder (SSD), previously called phonologic approaches have been reported, including antiepileptic medication,
disorder, are often unintelligible, even to their parents. Articulation corticosteroids, and intravenous gamma globulin, with varying results.
errors are not the result of neuromotor impairment, but rather seem The prognosis for return of normal language ability is uncertain, even
to reflect an inability to correctly process the words they hear (Table with resolution of the EEG abnormality. Epileptic interictal discharges
52.2). As a result, they lack understanding of how to fit sounds together are more frequently found on EEGs of children with language impair-
properly to create words. In contrast to children with childhood apraxia ments than in otherwise normally developing children, even in those
of speech, those SSD are fluent, although unintelligible, and produce a without any history of language regression. However, this phenomenon
consistent, highly predictable pattern of articulation errors. Children is believed to represent a manifestation of an underlying disorder of
with SSD are at high risk for later reading and learning disability. brain structure or function that is distinct from the language impairment,
because there has been little evidence of improvement in language
HEARING IMPAIRMENT function when the EEG was normalized after antiepileptic administration.
Hearing loss can be a major cause of delayed or disordered language Unless there is a clear pattern of either seizure symptoms or regression
development (see Chapter 655). Approximately 16-30 per 1,000 children in language ability, a routine EEG is not recommended as part of the
have mild to severe hearing loss, significant enough to affect educational evaluation for a child with speech and/or language impairment.
progress. In addition to these “hard of hearing” children, approximately
another 1 : 1,000 are deaf (profound bilateral hearing loss). Hearing loss Metabolic and Neurodegenerative Disorders
can be present at birth or acquired postnatally. Newborn screening (See also Part X.)
programs can identify many forms of congenital hearing loss, but children Regression of language development may accompany loss of neuromo-
can develop progressive hearing loss or acquire deafness after birth. tor function at the outset of a number of metabolic diseases, including
The most common types of hearing loss are attributable to conductive lysosomal storage disorders (metachromatic leukodystrophy), peroxisomal
(middle ear) or sensorineural deficit. Although it is not possible to disorders (adrenal leukodystrophy), ceroid lipofuscinosis (Batten disease),
accurately predict the impact of hearing loss on a child’s language and mucopolysaccharidosis (Hunter disease, Hurler disease). Recently,
development, the type and degree of hearing loss, the age of onset, and creatine transporter deficiency was identified as an X-linked disorder
the duration of the auditory impairment clearly play important roles. that manifests with language delay in boys and with mild learning
Children with significant hearing impairment often have problems disability in female carriers.
developing facility with language and often have related academic
difficulties. Presumably, the language impairment is caused by lack of Screening
exposure to fluent language models, starting in infancy. Developmental surveillance at each well child visit should include specific
Approximately 30% of hearing-impaired children have at least 1 other questions about normal language developmental milestones and observa-
disability that affects development of speech and language (e.g., intel- tions of the child’s behavior. Clinical judgment, defined as eliciting
lectual disability, cerebral palsy, craniofacial anomalies). Any child who and responding to parents’ concerns, can detect the majority of children
shows developmental warning signs of a speech or language problem with speech and language problems. The AAP recommends clinicians
should have a hearing assessment by an audiologist. employ standardized developmental screening questionnaires and
observation checklists at select well child visits. (see Chapter 28).
HYDROCEPHALUS In 2015 the U.S. Preventive Services Task Force reviewed screening
Some children with hydrocephalus may be described as having “cocktail- for SLI in young children in primary care settings and found inadequate
party syndrome.” Although they may use sophisticated words, their evidence to support screening in the absence of parental or clinician
comprehension of abstract concepts is limited, and their pragmatic concern about children’s speech, language, hearing, or development.

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Chapter 52  ◆  Language Development and Communication Disorders  279

Table 52.3  Speech and Language Screening


REFER FOR SPEECH–LANGUAGE EVALUATION IF:
AT AGE RECEPTIVE EXPRESSIVE
15 mo Does not look/point at 5-10 objects Is not using 3 words
18 mo Does not follow simple directions (“get your shoes”) Is not using Mama, Dada, or other names
24 mo Does not point to pictures or body parts when they are named Is not using 25 words
30 mo Does not verbally respond or nod/shake head to questions Is not using unique 2-word phrases, including noun–verb
combinations
36 mo Does not understand prepositions or action words; does not Has a vocabulary of <200 words; does not ask for things; echolalia
follow 2-step directions to questions; language regression after attaining 2-word phrases

When either parents or physicians are concerned about speech or both verbal and nonverbal scores will be low compared to norms (≤2nd
language development for reasons such as highlighted in Table 52.3, percentile). In contrast, a typical cognitive profile for a child with SLI
the child should be referred for further evaluation and intervention includes a significant difference between nonverbal and verbal abilities,
(see Diagnostic Evaluation). with nonverbal IQ being greater than verbal IQ and the nonverbal score
being within an average range.
NONCAUSES OF LANGUAGE DELAY
Twinning, birth order, “laziness,” exposure to multiple languages Evaluation of Social Behaviors
(bilingualism), tongue-tie (ankyloglossia), or otitis media are not adequate Social interest is the key difference between children with a primary
explanations for significant language delay. Normal twins learn to talk language disorder (SLI) and those with a communication disorder
at the same age as normal single-born children, and birth-order effects secondary to ASD. Children with SLI have an interest in social interaction,
on language development have not been consistently found. The drive but they may have difficulty enacting their interest because of their
to communicate and the rewards for successful verbal interaction are limitations in communication. In contrast, autistic children show little
so strong that children who let others talk for them usually cannot talk social interest.
for themselves and are not “lazy.” Toddlers exposed to more than one
language can show a mild delay in starting to talk, and they can initially Relationship of Language and Social Behaviors
mix elements (vocabulary and syntax) of the different languages they to Mental Age
are learning (code switching). However, they learn to segregate each Cognitive assessment provides a mental age for the child, and the child’s
language by 24-30 mo and are equal to their monolingual peers by 3 yr behavior must be evaluated in that context. Most 4 yr old children
of age. An extremely tight lingual frenulum (tongue-tie) can affect feeding typically engage peers in interactive play, but most 2 yr olds are playful
and speech articulation but does not prevent the acquisition of language but primarily focused on interactions with adult caretakers. A 4 yr old
abilities. Prospective studies also show that frequent ear infections and with mild to moderate intellectual disability and a mental age of 2 yr
serous otitis media in early childhood do not result in persisting language might not yet play with peers because of cognitive limitation, not a lack
disorder. of desire for social interaction.

Diagnostic Evaluation Speech and Language Evaluation


It is important to distinguish developmental delay (abnormal timing) A certified speech-language pathologist should perform a speech and
from abnormal patterns or sequences of development. A child’s language language evaluation. A typical evaluation includes assessment of language,
and communication skills must also be interpreted within the context speech, and the physical mechanisms associated with speech production.
of the child’s overall cognitive and physical abilities. It is also important Both expressive and receptive language is assessed by a combination
to evaluate the child’s use of language to communicate with others in of standardized measures and informal interactions and observations.
the broadest sense (communicative intent). Thus a multidisciplinary All components of language are assessed, including syntax, semantics,
evaluation is often warranted. At a minimum, this should include pragmatics, and fluency. Speech assessment similarly uses a combination
psychologic evaluation, neurodevelopmental pediatric assessment, and of standardized measures and informal observations. Assessment of
speech-language examination. physical structures includes oral structures and function, respiratory
function, and vocal quality. In many settings, a speech-language patholo-
Psychologic Evaluation gist works in conjunction with an audiologist, who can do appropriate
There are two main goals for the psychologic evaluation of a young hearing evaluation of the child. If an audiologist is not available in that
child with a communication disorder. Nonverbal cognitive ability must setting, a separate referral should be made. No child is too young for
be assessed to determine if the child has an intellectually disability, and a speech-language or hearing evaluation. A referral for evaluation is
the child’s social behaviors must be assessed to determine whether ASD appropriate whenever there is suspicion of language impairment.
is present. Additional diagnostic considerations may include emotional
disorders such as anxiety, depression, mood disorder, obsessive- Medical Evaluation
compulsive disorder, academic learning disorders, and attention-deficit/ Careful history and physical examination should focus on the
hyperactivity disorder (ADHD). identification of potential contributors to the child’s language and
communication difficulties. A family history of delay in talking, need
Cognitive Assessment for speech and language therapy, or academic difficulty can suggest
Intellectual disability is defined as deficits in cognitive abilities and a genetic predisposition to language disorders. Pregnancy history
adaptive behaviors. In this context, children with intellectual disability might reveal risk factors for prenatal developmental anomalies, such
show delayed development of communication skills; however, delayed as polyhydramnios or decreased fetal movement patterns. Small size for
communication does not necessarily signal intellectual disability. gestational age at birth, symptoms of neonatal encephalopathy, or early
Therefore, a broad-based cognitive assessment is an important component and persistent oral-motor feeding difficulty may presage speech and
to the evaluation of children with language delays, including evaluation language difficulty. Developmental history should focus on the age when
of both verbal and nonverbal skills. If a child has intellectual disability, various language skills were mastered and the sequences and patterns of

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280  Part IV  ◆  Learning and Developmental Disorders

milestone acquisition. Regression or loss of acquired skills should raise For children with severe language impairment, alternative methods
immediate concern. of communication are often included in therapy, such as manual sign
Physical examination should include measurement of height (length), language, use of pictures (e.g., Picture Exchange Communication System),
weight, and head circumference. The skin should be examined for lesions and computerized devices for speech output. Often the ultimate goal
consistent with phakomatosis (e.g., tuberous sclerosis, neurofibromatosis, is to achieve better spoken language. Early use of signs or pictures can
Sturge-Weber syndrome) and other disruptions of pigment (e.g., help the child establish better functional communication and understand
hypomelanosis of Ito). Anomalies of the head and neck, such as white the symbolic nature of words to facilitate the language process. There
forelock and hypertelorism (Waardenburg syndrome), ear malformations is no evidence that use of signs or pictures interferes with development
(Goldenhar syndrome), facial and cardiac anomalies (Williams syndrome, of oral language if the child has the capacity to speak. Many clinicians
velocardiofacial syndrome), retrognathism of the chin (Pierre Robin believe that these alternative methods accelerate the learning of language.
anomaly), or cleft lip/palate, are associated with hearing and speech These methods also reduce the frustration of parents and children who
abnormalities. Neurologic examination might reveal muscular hyper- cannot communicate for basic needs.
tonia or hypotonia, both of which can affect neuromuscular control of Parents can consult with their child’s speech-language therapist about
speech. Generalized muscular hypotonia, with increased range of motion home activities to enhance language development and extend therapy
of the joints, is frequently seen in children with SLI. The reason for this activities through appropriate language-stimulating activities and
association is not clear, but it might account for the fine and gross recreational reading. Parents’ language activities should focus on emerging
motor clumsiness often seen in these children. However, mild hypotonia communication skills that are within the child’s repertoire, rather than
is not a sufficient explanation for the impairment of expressive and teaching the child new skills. The speech pathologist can guide parents
receptive language. on effective modeling and eliciting communication from their child.
No routine diagnostic studies are indicated for SLI or isolated language Recreational reading focuses on expanding the child’s comprehension
disorders. When language delay is a part of a generalized cognitive or of language. Sometimes the child’s avoidance of reading is a sign that
physical disorder, referral for further genetic evaluation, chromosome the parent is presenting material that is too complex for the child. The
testing (e.g., fragile X testing, microarray comparative genomic hybridiza- speech-language therapist can guide the parent in selecting an appropriate
tion), neuroimaging studies, and EEG may be considered, if clinically level of reading material.
indicated.
PROGNOSIS
TREATMENT Children with mild isolated expressive language disorder (“late talkers”)
The federal Individuals with Disabilities Education Act (IDEA) requires have an excellent prognosis for both language, learning, and social-
that schools provide early intervention and special education services emotional adjustment.
to children who have learning difficulties. This includes children with Over time, children with SLI respond to therapeutic/educational
speech and language disorders. Services are provided to children from interventions and show a trend toward improvement of communication
birth through 21 yr of age. States have various methods for providing skills. Adults with a history of childhood language disorder continue
services, including speech and language therapy for young children, to show evidence of impaired language ability, even when surface features
such as Birth-to-Three, Early Childhood, and Early Learning programs. of the communication difficulty have improved considerably. This suggests
Children can also receive therapy from nonprofit service agencies, that many persons find successful ways of adapting to their impairment.
hospital and rehabilitation centers, and speech pathologists in private Although the majority of children improve their communication ability
practice. with time, 50–80% of preschoolers with language delay and normal
Of concern is that many children with identified speech and language nonverbal intelligence continue to experience difficulty with language
deficits do not receive appropriate intervention services. Population-based and social development up to 20 yr beyond the initial diagnosis. Language
surveys in both the United States and Canada have found that less than disorders often interfere with the child’s ability to conceptualize the
half of children identified by kindergarten entry receive speech and increasingly complex and ambiguous worlds of social relationship and
language interventions, even when their parents have been educated emotions. Consequently, in later childhood and adolescence, children
about the nature of their child’s condition. In one study, children with with persisting symptoms of SLI are about twice as likely as their
deficits in speech sound production were much more likely to receive typical-language peers to show clinical levels of emotional problems
services (41%) than those who had problems with language alone (9%). and twice as likely to show behavioral difficulties.
These findings are troubling because poor educational outcome, especially A Danish study found that adults with SLI were less likely to have
in reading, and impaired social-behavioral adjustment are more highly completed formal education beyond high school, and that they had
associated with language than with speech sound disorders. Therefore lower occupational and socioeconomic success than the general popula-
the children at greatest risk are least likely to receive intervention services. tion; 56% had a paid job (vs 84% of same-age general population), of
Boys were twice as likely to receive speech intervention as girls, regardless whom 35% were unskilled and 40% skilled workers. About 80% of the
of their speech-language diagnosis. Social and demographic factors did adults reported difficulty reading while in school, most had received
not appear to influence whether identified children received interventions remedial teaching, and 50% continued to report reading difficulty as
services. adults (vs 5% of Danish adults). Lower nonverbal intelligence and
Speech-language therapy includes a variety of goals. Sometimes both comorbid psychiatric or neurologic disorders independently contrib-
speech and language activities are incorporated in therapy. The speech uted to a worse prognosis. These results were consistent with previous
goals focus on development of more intelligible speech. Language goals reports of adult outcomes of children with SLI from Canada and the
can focus on expanding vocabulary (lexicon) and understanding of United Kingdom.
the meaning of words (semantics), improving syntax by using proper
forms or learning to expand single words into sentences, and social Academic Disorders
use of language (pragmatics). Therapy can include individual sessions, Early language difficulty is strongly related to later reading disorder.
group sessions, and mainstream classroom integration. Individual Approximately 50% of children with early language difficulty develop
sessions may use drill activities for older children or play activities for reading disorder, and 55% of children with reading disorder have a
younger children to target specific goals. Group sessions can include history of impaired early oral language development. By the time they
several children with similar language goals to help them practice enter kindergarten, many children with early language deficits may
peer communication activities and to help them bridge the gap into have improved significantly, and they may begin to show early literacy
more naturalistic communication situations. Classroom integration skills, identifying and sounding out letters. However, as they progress
might include the therapist team-teaching or consulting with the through school, they are often unable to keep up with the increasing
teacher to facilitate the child’s use of language in common academic demands for both oral and written language. Despite their ability to
situations. read words, these children lack oral and reading comprehension, may

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Chapter 52  ◆  Language Development and Communication Disorders  281

read slowly, and struggle with a wide range of academic subjects. This
“illusory recovery” of early language skill may result in children losing Table 52.4  Terminology Related to Childhood-Onset
speech-language services or other special education support in early Fluency Disorder
grades, only to be identified later with academic problems. In addition, TERM DEFINITION
children with subtle but persisting language impairments may appear
Stuttering A speech disorder manifested through
inattentive or anxious in language-rich classroom environments and
abnormal speech patterns referred to as
may be misdiagnosed as having an attention disorder. dysfluencies
A study from Australia found that at 7-9 yr of age, children with
communication impairments were reported by their parents and teachers Childhood-onset Term used in DSM-5 that is synonymous with
to be making slower progress in reading, writing, and overall school fluency disorder stuttering
achievement than other children their age. The children reported a Stammering The clinical term used in the United Kingdom
higher incidence of bullying, poorer peer relationships, and less overall rather than stuttering; stammering also used
enjoyment of school than their typically developing peers. informally to describe halting speech
Cluttering A speech disorder characterized by excessively
COMORBID DISORDERS rapid and irregular rate of speech
Emotional and Behavioral Difficulty
Dysfluency Speech disruptions that can occur in normal or
Early language disorder, particularly difficulty with auditory comprehen-
disordered speech
sion, appears to be a specific risk factor for later emotional dysfunction.
Boys and girls with language disorder have a higher-than-expected rate
of anxiety disorder (principally social phobia). Boys with language
disorder are more likely to develop symptoms of ADHD, conduct disorder,
and antisocial personality disorder compared with normally developing conditions and that interrupts the normal flow of speech through repeated
peers. Language disorders are common in children referred for psychiatric or prolonged sounds, syllables, or single-syllable words. (Table 52.4 lists
services, but they are often underdiagnosed, and their impact on children’s definitions of terminology.) All speakers experience speech dysfluencies.
behavior and emotional development is often overlooked. During the toddler and preschool years, children often make repetitions
Preschoolers with language difficulty frequently express their frustra- of sounds, syllables, or words, particularly at the beginning of sentences
tion through anxious, socially withdrawn, or aggressive behavior. As (normal dysfluencies). However, dysfluencies found in individuals who
their ability to communicate improves, parallel improvements are usually stutter are distinct from those experienced by typically developing
noted in their behavior, suggesting a cause-and-effect relationship between speakers. Specifically, children who stutter show greater part-word
language and behavior. However, the persistence of emotional and repetition (“b-b-b-b-but”), single-syllable word repetition (“My, my,
behavioral problems over the life span of persons with early language my”), and sound prolongation (“MMMMMM-an”), and the frequency
disability suggests a strong biologic or genetic connection between of their stuttering is much greater than found in normal dysfluencies.
language development and subsequent emotional disorders. Other types of dysfluency that are not exclusive to children who stutter
The full impact of environmental and education support on these include interjections (“well, uhh, umm”), revisions (“I thought…I mean”),
emotional and behavioral difficulties is not known at this time, but and phrase repetitions (“Did you say–Did you say”). The perspective of
many children with SLI need psychologic support. Efforts should be the speaker also characterizes differences between those children who
made to support the child’s resilience, emotional competency, and coping stutter and a typical dysfluency. Children who stutter have decided on
abilities. Parents and teachers should be encouraged to strengthen the a word to use but are unable to “get the word out,” while a typically
child’s prosocial behavior and reduce noncompliant and aggressive developing child may struggle to express herself because she is unable
behaviors. to retrieve the word, changes thought, or is distracted.
Multiple nonspeech features can accompany stuttering. Physical
Motor and Coordination Delays concomitants that occur at the onset and as the condition persists
Approximately one third to one half of children with speech and/or include movements of the head (head turning or jerking), face (eye
language disorders have some degree of motor coordination impairment blinking/squinting, grimacing, opening or tightly closing the jaw), and
that may have an important impact on their ability to carry out activities neck (tightening) and irregular inhalations and exhalations. Fear and
of daily living (dressing, eating, bathing), school tasks (writing, drawing, anxiety about speaking in a large-group setting, such as in front of a
coloring), and social/recreational activities (participation in sports and class or in interpersonal social interactions, are emotional symptoms
other playground activities). Motor difficulties are not related to the associated with stuttering. As with all social beings, children closely
type of language impairment (i.e., they are found both in children with monitor the reactions of those with whom they associate, especially as
only receptive delays and in those with both expressive and receptive they get older. It is not difficult to imagine the impact a single or series
delays). The patterns of motor difficulty seen in children with language of negative interactions or comments could have on a child’s future
impairment are not distinctly “abnormal,” and the motor profiles of attempts to interact verbally with another or in a large social setting.
children with language impairment resemble those of younger children, Consider also the potential social challenges associated with entering
suggesting that they result from delayed maturation of motor development a classroom for the first time, transitioning to middle/high school/
rather than from a neurologic impairment. Several researchers have college, beginning a job, dating, and so on. Not surprisingly, avoidance
postulated that language impairments and motor difficulties may have is a common way of coping with the anxiety created by the fear of
a common neurodevelopmental basis. Because attention may be focused stuttering.
on the child’s language delays, the need for intervention and support In the Diagnostic and Statistical Manual for Mental Disorders, Fifth
for the child’s comorbid motor impairment may be overlooked. Edition (DSM-5), the term stuttering has been removed from the
diagnostic classification, and the disorder is referred to as childhood-
Bibliography is available at Expert Consult. onset fluency disorder (Table 52.5). Note that impact on functional
behavior is a component of the psychiatric diagnosis of this condition.
In contrast, communication disorder specialists would consider possible
anxiety and avoidance of various activities and situations a common
52.1  Childhood-Onset Fluency Disorder concomitant of childhood-onset fluency disorder (stuttering) and not
Kenneth L. Grizzle necessarily a requirement for the diagnosis to be made.
Stuttering is distinct from other disordered speech output conditions
Developmental stuttering is a childhood speech disorder that is not such as cluttering in several ways. Unlike stuttering, for which distinct
associated with stroke, traumatic brain injury, or other possible medical episodes can be identified and even counted, cluttering affects the entire

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Chapter 52  ◆  Language Development and Communication Disorders  281.e1

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281.e2  Part IV  ◆  Learning and Developmental Disorders

Keywords
childhood-onset fluency disorder
cluttering
physical concomitants
stammering, stuttering

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282  Part IV  ◆  Learning and Developmental Disorders

COMORBIDITIES
Table 52.5  DSM-5 Diagnostic Criteria for Childhood- Despite the widely held belief in a high degree of comorbidity between
Onset Fluency Disorder (Stuttering) childhood-onset fluency disorder and other communication disorders,
A. Disturbances in the normal fluency and time patterning of research to date does not necessarily support this assertion. Speech-
speech that are inappropriate for the individual’s age and language pathologists (SLPs) consistently report higher rates of comorbid-
language skills, persist over time, and are characterized by ity on their caseload, although this would be expected in clinical samples.
frequent and marked occurrences of one (or more) of the Speech sound (phonologic) disorders are the most commonly reported
following: comorbidities, and 30–40% of children on SLP caseloads are also
1. Sound and syllable repetitions. experiencing problems with phonology. However, studies have not found
2. Sound prolongations of consonants as well as vowels. greater incidence of phonologic disorders among those who stutter
3. Broken words (e.g., pauses within a word). compared to a control group. Similarly, SLPs report a much higher
4. Audible or silent blocking (filled or unfilled pauses in speech).
5. Circumlocutions (word substitutions to avoid problematic
percentage of children with language disorders among their patients
words). who stutter than the approximately 7% expected in the population at
6. Words produced with an excess of physical tension. large, yet the language functioning among stutters apparently is no
7. Monosyllabic whole-word repetitions (e.g., “I-I-I-I see him”). different than in the general population. The same pattern holds for
B. The disturbance causes anxiety about speaking or limitations in learning disorder (LD). The incidence of various types of LDs associated
effective communication, social participation, or academic or with a language disorder is well documented, so one would expect to
occupational performance, individually or in any combination. see increased frequency within a clinical population.
C. The onset of symptoms is in the early developmental period. The perception of communication disorder professionals and people
Note: Later-onset cases are diagnosed as 307.0 [F98.5] in general is that children who stutter experience more anxiety than
adult-onset fluency disorder.
D. The disturbance is not attributable to a speech-motor or sensory
their nonstuttering peers. This in fact is supported by clinical research
deficit, dysfluency associated with neurologic insult (e.g., stroke, that has found considerably higher rates of psychopathology, specifically
tumor, trauma), or another medical condition and is not better social anxiety and generalized anxiety disorder, among adolescents who
explained by another mental disorder. stutter. The frequency of reported anxiety increases with age. To date,
however, the lack of controlled studies should not lead to the assumption
From the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition,
(Copyright 2013). American Psychiatric Association, pp 45–46.)
that stuttering itself places a child or adolescent at greater risk for a
psychiatric disorder of any type. This is not meant to suggest that anxiety
has no impact on a stuttering child’s behavior in specific situations; as
indicated earlier in this chapter, children who stutter frequently avoid
speech output. In addition to elevated repetitions of partial words (as situations that demand speaking.
in stuttering), whole words, and phrases, those who clutter show speech Children who stutter have consistently been found to be bullied more
bursts that are often choppy, and articulation can be slurred and imprecise. than peers. In one study, stutterers were almost 4 times more likely to
The level of awareness of how their speech affects those listening, unlike be bullied than their nonstuttering counterparts. About 45% of those
children who stutter, is minimal for those who clutter. Stammering who stuttered reported being the victim of bullying.
and stuttering are terms used interchangeably, although the former is
used in the United Kingdom and the latter in the United States. “Stammer” DEVELOPMENTAL PROGRESSION
is also used informally to describe when an individual is struggling to Onset of stuttering typically occurs between 2 and 4 yr of age. Severity
express himself and may speak in a halting or “bumbling” manner. of symptoms vary, from pronounced stuttering within a few days of
onset to gradual worsening of symptoms across months. Symptoms
EPIDEMIOLOGY may ebb and flow, including disappearing for weeks before returning,
Although prevalence studies have produced a range of estimates for especially among young children. From 40–75% of young children who
developmental stuttering, it appears that 0.75–1% of the population is stutter will stop spontaneously, typically within months of starting.
experiencing this condition at any one time. Incidence rates are consider- Although predicting which child will stop stuttering is difficult, risk
ably higher: Estimates to date suggest an incidence rate of approximately factors for persisting include stuttering for >1 yr, continued stuttering
5%, with rates considerably higher among young children than older after age 6 yr, and experiencing other speech or language problems.
children or adolescents. Seldom does a child begin stuttering before
2 yr of age or after 12 yr; in fact, the mean age of onset is 2-4 yr, and TREATMENT
most children stop stuttering within 4 yr of onset. Symptoms will disap- Several factors should be considered when deciding to refer a younger
pear within 4 wk for a minority of children. Although studies have child with childhood-onset fluency disorder for therapy. If there is a
consistently shown that the male:female ratio favors males, the magnitude positive family history for stuttering, if symptoms have been present
of the pattern increases as children get older. The ratio among children for >4 wk, and if the dysfluencies are impacting the child’s social,
<5 yr is approximately 2 : 1 and jumps to 4 : 1 among adolescents and behavioral, and emotional functioning, referral is warranted. Although
young adults. there is no cure for stuttering, behavioral therapies are available that are
developed and implemented by SLPs. Treatment emphasizes managing
GENETICS stuttering while speaking by regulating rate of speech and breathing
There is convergent evidence of a genetic link for childhood-onset fluency and helping the child gradually progress from the fluent production
disorder. Concordance rates among MZ twins range from 20–83%, and of syllables to more complex sentences. Approaches to treatment may
for DZ twins, 4–19%. Family aggregation studies suggest increased include parents directly in the process, although even if not active
incidence rate of approximately 15% among first-degree relatives of participants, parents play an important role in the child coping with
those affected, 3 times higher than the 5% rate for the general population. stuttering. Treatment in preschool-age children has been shown to
The variance in risk for stuttering attributed to genetic effects is high, improve stuttering. Management of stuttering is also emphasized in
ranging from 70–85%. Although evidence is limited, stuttering appears older children. For school-age children, treatment includes improving
to be a polygenic condition, and several genes increase susceptibility. not only fluency but also concomitants of the condition. This includes
recognizing and accepting stuttering and appreciating others’ reaction
ETIOLOGY to the child when stuttering, managing secondary behaviors, and
Brain structure and function abnormalities found in stutterers include addressing avoidance behaviors. The broad focus allows for minimiz-
deficits in white matter in the left hemisphere, overactivity in the right ing the adverse effects of the condition. To date, no evidence supports
cortical region, and underactivity in the auditory cortex. Abnormal the use of a pharmacologic agent to treat stuttering in children and
basal ganglia activation has also been identified among stutterers. adolescents.

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Preschool children with normal developmental dysfluency 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 52.5, indications
for referral include 3 or more dysfluencies per 100 syllables (b-b-but;
th-th-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 should not
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. Such
treatment greatly improves dysfluency, but it may never be eliminated.

Bibliography is available at Expert Consult.

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Chapter 52  ◆  Language Development and Communication Disorders  283.e1

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