Autism spectrum disorders and Communication disorders: Autism, Asperger’s syndrome, Language

disorder, Speech sound disorder, childhood - onset fluency disorder (stuttering), disorder.

AUTISM SPECTRUM DISORDER

Autism was first described in 1943 (Kanner). A recent study by the Centers for Disease Control and
Prevention (Baio, 2014) reported that the rate of autism among children is about 1 in 68. This reported
increase in autism in recent years is likely due to methodological differences between studies and
changes in diagnostic practice and public and professional awareness in recent years rather than an
increase in prevalence. Awareness has also contributed to parents seeking help regarding their children

Autism has also been associated with the increasing paternal and maternal childbearing age. There is
evidence that higher rates of genetic mutations occur in the sperms of older men. Thus, the father’s ae
is also reported to be associated with the higher risk of autism. Individuals are choosing to get married
later, and as genetic evolution moves slower than social evolution, it will take some time for our bodies
to catch up.

Autism spectrum disorder is characterized by persistent deficits in social communication and social
interaction across multiple contexts, including deficits in social reciprocity, nonverbal communicative
behaviors used for social interaction, and skills in developing, maintaining, and understanding
relationships. In addition to the social communication deficits, the diagnosis of autism spectrum
disorder requires the presence of restricted, repetitive patterns of behavior, interests, or activities.
Because symptoms change with development and may be masked by compensatory mechanisms, the
diagnostic criteria may be met based on historical information, although the current presentation must
cause significant impairment.

Autism is usually identified before a child is 30 months of age and diagnostic stability over the
childhood years is quite high. Lord and colleagues (2006) report that children diagnosed with autism by
age 2 tend to be similarly diagnosed at age 9. Recent research suggests that early signs of problems
with social communication can be detected in the first 6 months of an infant’s life (Jones & Klin, 2014).

When scanning the world around them, typically developing infants from 2 to 6 months of age focus
increasingly on the face and especially the eyes of others. This focus allows infants to better
understand those caring for them and helps facilitate later social interaction. In contrast, children later
diagnosed with autism show a significant decline in their focus on the eyes of others from 2 to 6 months
of age and this decline continues until 24 months—at which point it is approximately half the level of
focus as that seen in typically developing children. In contrast, while their attention to other people’s
eyes decreases, infants later diagnosed with autism show a significant increase in their focus on
inanimate objects, which is double the level of typically developing children by 24 months.

THE CLINICAL PICTURE IN AUTISTIC SPECTRUM DISORDER

Children with autism show varying degrees of impairments and capabilities (individual differences). A
cardinal and typical sign is their social deficit, that is, a child seems apart or aloof from others, even in
the earliest stages of life (Hillman et al., 2007). Mothers often remember such babies as not being
cuddly, not reaching out when being picked up, not smiling or looking at them while being fed, and not
appearing to notice the comings and goings of other people.

1. A Social Deficit: Children with autism often do not show any need for affection or contact with
others. Several studies, however, have questioned the traditional view that children with autism are
emotionally flat. These studies have shown that children with autism do express emotions and should
not be considered as lacking emotional reactions (Jones et al., 2001). Instead, some have characterized
the seeming inability of children with autism to respond to others as a lack of social understanding—a
deficit in the ability to attend to social cues from others.

Indeed, neuroimaging studies have revealed that children with autism show decreased activity in the
medial prefrontal cortex, a region associated with understanding the mental states of others, but
increased activation in the ventral occipitotemporal regions involved in object perception (Sigman et al.,
2006).

Additionally, children with autism show deficits in attention and in locating and orienting to sounds in
their environment (Hillman et al., 2007). These children often show an aversion to auditory stimuli,
crying even at the sound of a parent’s voice. The pattern is not always consistent, however; children
with autism may at one moment be severely agitated or panicked by a very soft sound and at another
time be totally oblivious to a loud noise.

2. An Absence of Speech: Children with autism do not effectively learn by imitation (Smith & Bryson,
1994). This dysfunction might explain their characteristic absence or severely limited use of speech. If
speech is present, it is almost never used to communicate except in the most. rudimentary fashion,
such as by saying “yes” in answer to a question or by the use of echolalia—the parrot-like repetition of a
few words. Whereas the echoing of parents’ verbal behavior is found to a small degree in normal
children as they experiment with their ability to produce articulate speech, persistent echolalia is found
in about 75 percent of children with autism (Prizant, 1983).

3. Self-Stimulation: Self-stimulation is often characteristic of children with autism. It usually takes the
form of such repetitive movements as head banging, spinning, and rocking, which may continue by the
hour.

4. Maintaining Sameness: Many children with autism become preoccupied with and form strong
attachments to unusual objects such as rocks, light switches, or keys. When their preoccupation with
the object is disturbed—for example, by its removal or by attempts to substitute something in its place
—or when anything familiar in the environment is altered even slightly, these children may have a
violent temper tantrum or a crying spell that continues until the familiar situation is restored. Thus,
children with autism are often said to be “obsessed with the maintenance of sameness.”

DIAGNOSTIC CRITERIA

A. Persistent deficits in social communication and social interaction across multiple contexts, as
manifested by the following, currently or by history (examples are illustrative, not exhaustive; see
text):

1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and
failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to
failure to initiate or respond to social interactions.

2. Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from
poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body
language or deficits in understanding and use of gestures: to a total lack of facial expressions and
nonverbal communication.

3. Deficits in developing, maintaining, and understanding relationships, ranging, for example, from
difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or
in making friends; to absence of interest in peers.
Specify current severity:

Severity is based on social communication impairments and restricted, repetitive patterns of behavior
(seeTable 2).

B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of

the following, currently or by history (examples are illustrative, not exhaustive; see text):

1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor
stereotypies, lining up toys or flipping objects, echolalia, idiosyncratic phrases).

2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal

behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns,
greeting rituals, need to take same route or eat same food every day).

3. Highly restricted, fixated interests that are abnormal in intensity or focus (e.g.,strong attachment to
or preoccupation with unusual objects, excessively circumscribed or perseverative interests).

4. Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment
(e.g., apparent indifference to pain/temperature, adverse response to specific sounds or textures,
excessive smelling or touching of objects, visual fascination with lights or movement).

Specify current severity:

Severity is based on social communication impairments and restricted, repetitive patterns of behavior
(see Table 2).

C. Symptoms must be present in the early developmental period (but may not become fully manifest
until social demands exceed limited capacities, or may be masked by learned strategies in later life).

D. Symptoms cause clinically significant impairment in social, occupational, or other important areas
of current functioning.

E. These disturbances are not better explained by intellectual disability (intellectual developmental
disorder) or global developmental delay. Intellectual disability and autism spectrum disorder
frequently co-occur; to make comorbid diagnoses of autism spectrum disorder and intellectual
disability, social communication should be below that expected for general developmental level.

Note: Individuals with a well-established DSM-IV diagnosis of autistic disorder, Asperger’s disorder, or
pervasive developmental disorder not otherwise specified should be given the diagnosis of autism
spectrum disorder. Individuals who have marked deficits in social communication, but whose symptoms
do not othenwise meet criteria for autism spectrum disorder, should be evaluated for social (pragmatic)
communication disorder.

Specify if;

 With or without accompanying intellectual impairment

 With or without accompanying language impairment
 Associated with a known medical or genetic condition or environmental factor
 Associated with another neurodevelopmental, mental, or behavioral disorder
 With catatonia

CAUSAL FACTORS IN AUTISM

Autism is a complex disorder and its precise causes are unknown. Twin and sibling studies have
shown that there is a very strong heritable component in autism. For instance, 2 to 14 percent of
siblings of children diagnosed with autism also have the disorder, and approximately 20 percent
have some symptoms of the disorder (Newschaffer et al., 2007). Although there is a clear heritable
component, the exact mode of genetic transmission is not yet understood.

On one hand, recent research has shown that hundreds of different genes are associated with
increased risk of autism, suggesting that there are many different paths to developing this disorder
(Robinson et al., 2014; State & Šestan, 2012). On the other hand, research also has shown that the
same genetic variants are associated with multiple disorders. For instance, some of the same genes
that have been linked with an increased risk of autism also increase the risk of ADHD, schizophrenia,
bipolar disorder, and depression (Smoller et al., 2013).

Given the complexity of this picture, how will we ever know what causes autism? Researchers are
pursuing several different avenues of research to try to answer this question. They are trying to
determine what portion of the genetic risk is inherited (52 percent) and what portion is due to de
novo genetic mutations (3 percent). De novo mutations are those that occur in the egg or sperm and
are passed on to every cell in the child’s body, despite not appearing in the parents’ DNA. It seems
that much of the risk for autism is indeed inherited from one’s parents (Gaugler et al., 2014).

However, a significant portion of risk also arises due to de novo mutations. This is important to
know, because as we learn about factors that increase the likelihood of genetic mutations, we can
take steps to try to decrease their occurrence. For instance, genetic mutations have been reported
to occur at higher rates in the sperm of older men, and there is now converging evidence that older
father age at a child’s birth is associated with increased risk of autism (D’Onofrio et al., 2014).
Findings like these do not explain how or why such mutations increase the risk of autism but can be
useful for the purposes of family planning.

TREATMENTS AND OUTCOMES OF AUTISM

The treatment prognosis for many children with autism is poor in part because so many people with
autism are insufficiently treated. Moreover, many children with autism are subjected to a range of
fads and “novel” approaches that have little to no support for their effectiveness. The good news,
however, is that intensive behavioral treatments have proven to be effective for many people
diagnosed with autism.

Behavioral Treatment: For many years, it was generally accepted that there is no effective way to
treat people diagnosed with autism. However, in 1987, Ivar Lovaas (1987) reported that an intensive
behavioral intervention administered via one-on-one meetings with the child for over 40 hours per
week for 2 years resulted in extremely positive results. The intervention was based on both
discrimination training strategies (reinforcement) and contingent aversive techniques (punishment).

The treatment plan typically enlists parents in the process and emphasizes teaching children to learn
from and interact with “normal” peers in real-world situations. Of the treated children in the study
by Lovaas and colleagues, 47 percent achieved normal intellectual and educational functioning,
compared with only 2 percent of children in the untreated control condition.

More recent versions of this intensive behavioral approach have continued to demonstrate success.
The Early Start Denver Model ESDM intervention involves more than 20 hours per week of intensive
behavioral work with the child and parent(s) focused on interpersonal exchanges, verbal and
nonverbal communication, and adult sensitivity to children’s cues. Children receiving the ESDM
intervention also showed greater cortical activation when viewing other people’s faces (compared to
objects), which in turn was correlated with greater improvements in the children’s social
communication (Dawson et al., 2012). Although treatments like this one are extremely time
consuming, their powerful results suggest that behavioral interventions can cause improvements in
people diagnosed with autism. See the Developments in Practice box for other novel approaches to
treating autism.
Video games and autism

Severity:

ASPERGER’S SYNDROME

People with high-functioning autism/Asperger's often have difficulty with social situations, and they
may not be able to understand the perspectives and feelings of others. However, their language and
cognitive skills are often intact.

People with the condition may also engage in specific, repetitive body movements. They often have
an orientation toward detail and an interest in systemizing, which can come across as an obsession.
Some may show remarkable facility in a narrowly focused and usually non-social area, such as
baseball statistics or train schedules.

A. Qualitative impairment in social interaction, as manifested by at least two of the following:

1. marked impairments in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial
expression, body postures, and gestures to regulate social interaction.

2. failure to develop peer relationships appropriate to developmental level.

3. a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people
(e.g. by a lack of showing, bringing, or pointing out objects of interest to other people).

4. lack of social or emotional reciprocity.

B. Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as

manifested by at least one of the following:
1. encompassing preoccupation with one or more stereotyped and restricted patterns of interest
that is abnormal either in intensity or focus.

2. apparently inflexible adherence to specific, nonfunctional routines or rituals.

3. stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or
complex whole-body movements).

4. persistent preoccupation with parts of objects.

C. The disturbance causes clinically significant impairment in social, occupational, or other

important areas of functioning

D. There is no clinically significant general delay in language (e.g., single words used by age 2
years, communicative phrases used by age 3 years).

E. There is no clinically significant delay in cognitive development or in the development of age-

appropriate self-help skills, adaptive behavior (other than social interaction), and curiosity about
the environment in childhood.

F. Criteria are not met for another specific Pervasive Developmental Disorder or Schizophrenia.

RETT’S SYNDROME

Rett syndrome is a rare genetic neurological and developmental disorder that affects the way the
brain develops, causing a progressive loss of motor skills and speech. This disorder primarily affects
girls.

Most babies with Rett syndrome seem to develop normally for the first 6 to 18 months of age, and
then lose skills they previously had — such as the ability to crawl, walk, communicate or use their
hands.

Smaller than normal head size (microcephaly) is usually the first sign that a child has Rett syndrome.
As children get older, delayed growth in other parts of the body becomes evident. Loss of normal
movement and coordination.

Over time, children with Rett syndrome have increasing problems with the use of muscles that
control movement, coordination and communication. Rett syndrome can also cause seizures and
intellectual disability. Abnormal hand movements, such as repetitive rubbing or clapping, replace
purposeful hand use.

Although there's no cure for Rett syndrome, potential treatments are being studied. Current
treatment focuses on improving movement and communication, treating seizures, and providing
care and support for children and adults with Rett syndrome and their families
DIANOSTIC CRITERIA

Consider diagnosis when postnatal deceleration of head growth observed

Required for typical or classic RTT

1. A period of regression followed by recovery or stabilization1

2. All main criteria and all exclusion criteria

3. Supportive criteria are not required, although often present in typical RTT

Required for atypical or variant RTT

1. A period of regression followed by recovery or stabilization1

2. At least 2 out of the 4 main criteria

3. 5 out of 11 supportive criteria

Main criteria

1. Partial or complete loss of acquired purposeful hand skills

2. Partial or complete loss of acquired spoken language2

3. Gait abnormalities: impaired (dyspraxic) or absence of ability

4. Stereotypic hand movements such as hand wringing/squeezing, clapping/tapping,

mouthing and washing/rubbing automatisms

Exclusion criteria for typical RTT

1. Brain injury secondary to trauma (peri- or postnatally), neurometabolic disease, or

severe infection that causes neurological problems3

2. Grossly abnormal psychomotor development in first 6 months of life4

Supportive criteria for atypical RTT5

1. Breathing disturbances when awake

2. Bruxism when awake

3. Impaired sleep pattern

4. Abnormal muscle tone

5. Peripheral vasomotor disturbances

6. Scoliosis/kyphosis

7. Growth retardation

8. Small cold hands and feet

9. Inappropriate laughing/screaming spells

10. Diminished response to pain

11. Intense eye communication - “eye pointing”

 COMMUNICATION DISORDERS

Disorders of communication include deficits in language, speech, and communication. Speech is the
expressive production of sounds and includes an individual's articulation, fluency, voice, and
resonance quality. Language includes the form, function, and use of a conventional system of
symbols (i.e., spoken words, sign language, written words, pictures) in a rule-governed manner for
communication. Communication includes any verbal or nonverbal behavior (whether intentional or
unintentional) that influences the behavior, ideas, or attitudes of another individual. Assessments of
speech, language and communication abilities must take into account the individual’s cultural and
language context, particularly for individuals growing up in bilingual environments. The standardized
measures of language development and of nonverbal intellectual capacity must be relevant for the
cultural and linguistic group (i.e., tests developed and standardized for one group may not provide
appropriate norms for a different group). The diagnostic category of communication disorders
includes the following: language disorder, speech sound disorder, childhood-onset fluency disorder
(stuttering), social (pragmatic) communication disorder, and other specified and unspecified
communication disorders.

LANGUAGE DISORDER

Diagnostic Criteria 315.39 (F80.9)

A. Persistent difficulties in the acquisition and use of language across modalities (i.e., spoken,
written, sign language, or other) due to deficits in comprehension or production that include the
following:

1. Reduced vocabulary (word knowledge and use).

2. Limited sentence structure (ability to put words and word endings together to form sentences
based on the rules of grammar and morphology).

3. Impairments in discourse (ability to use vocabulary and connect sentences to explain or describe a
topic or series of events or have a conversation).

The core diagnostic features of language disorder are difficulties in the acquisition and use of
language due to deficits in the comprehension or production of vocabulary, sentence structure, and
discourse. The language deficits are evident in spoken communication, written communication, or
sign language. Language learning and use is dependent on both receptive and expressive skills.

Expressive ability refers to the production of vocal, gestural, or verbal signals, while receptive ability
refers to the process of receiving and comprehending language messages. Language skills need to be
assessed in both expressive and receptive modalities as these may differ in severity. For example, an
individual's expressive language may be severely impaired, while his receptive language is hardly
impaired at all.

Language disorder usually affects vocabulary and grammar, and these effects then limit the capacity
for discourse. The child's first words and phrases are likely to be delayed in onset; vocabulary size is
smaller and less varied than expected; and sentences are shorter and less complex with grammatical
errors, especially in past tense. Deficits in comprehension of language are frequently
underestimated, as children may be good at using context to infer meaning. There may be word-
finding problems, impoverished verbal definitions, or poor understanding of synonyms, multiple
meanings, or word play appropriate for age and culture. Problems with remembering new words
and sentences are manifested by difficulties following instructions of increasing length, difficulties
rehearsing strings of verbal information (e.g., remembering a phone number or a shopping list), and
difficulties remembering novel sound sequences, a skill that may be important for learning new
words. Difficulties with discourse are shown by a reduced ability to provide adequate information
about the key events and to narrate a coherent story.

B. Language abilities are substantially and quantifiably below those expected for age, resulting in
functional limitations in effective communication, social participation, academic achievement, or
occupational performance, individually or in any combination.

The language difficulty is manifest by abilities substantially and quantifiably below that expected for
age and significantly interfering with academic achievement, occupational performance, effective
communication, or socialization (Criterion B). A diagnosis of language disorder is made based on the
synthesis of the individual's history, direct clinical observation in different contexts (i.e., home,
school, or work), and scores from standardized tests of language ability that can be used to guide
estimates of severity.

C. Onset of symptoms is in the early developmental period.

D. The difficulties are not attributable to hearing or other sensory impairment, motor dysfunction,
or another medical or neurological condition and are not better explained by intellectual disability
(intellectual developmental disorder) or global developmental delay.

ASSOCIATED FEATURES

A positive family history of language disorders is often present. Individuals, even children, can be
adept at accommodating to their limited language. They may appear to be shy or reticent to talk.
Affected individuals may prefer to communicate only with family members or other familiar
individuals. Although these social indicators are not diagnostic of a language disorder, if they are
notable and persistent, they warrant referral for a full language assessment. Language disorder,
particularly expressive deficits, may co-occur with speech sound disorder.

DEVELOPMENT AND COURSE

Language acquisition is marked by changes from onset in toddlerhood to the adult level of
competency that appears during adolescence. Changes appear across the dimensions of language
(sounds, words, grammar, narratives/expository texts, and conversational skills) in age-graded
increments and synchronies. Language disorder emerges during the early developmental period;
however, there is considerable variation in early vocabulary acquisition and early word
combinations, and individual differences are not, as single indicators, highly predictive of later
outcomes. By age 4 years, individual differences in language ability are more stable, with better
measurement accuracy, and are highly predictive of later outcomes. Language disorder diagnosed
from 4 years of age is likely to be stable over time and typically persists into adulthood, although the
particular profile of language strengths and deficits is likely to change over the course of
development.
 SPEECH SOUND DISORDER
Speech sound production describes the clear articulation of the phonemes (i.e., individual sounds)
that in combination make up spoken words. Speech sound production requires both the
phonological knowledge of speech sounds and the ability to coordinate the movements of the
articulators (i.e., the jaw, tongue, and lips,) with breathing and vocalizing for speech. Children with
speech production difficulties may experience difficulty with phonological knowledge of speech
sounds or the ability to coordinate movements for speech in varying degrees. Speech sound disorder
is thus heterogeneous in its underlying mechanisms and includes phonological disorder and
articulation disorder. A speech sound disorder is diagnosed when speech sound production is not
what would be expected based on the child's age and developmental stage and when the deficits are
not the result of a physical, structural, neurological, or hearing impairment. Among typically
developing children at age 4 years, overall speech should be intelligible, whereas at age 2 years, only
50% may be understandable.

Diagnostic Criteria

A. Persistent difficulty with speech sound production that interferes with speech intelligibility or
prevents verbal communication of messages.

B. The disturbance causes limitations in effective communication that interfere with social
participation, academic achievement, or occupational performance, individually or in any
combination.

C. Onset of symptoms is in the early developmental period.

D. The difficulties are not attributable to congenital or acquired conditions, such as cerebral palsy,
cleft palate, deafness or hearing loss, traumatic brain injury, or other medical or neurological
conditions.

ASSOCIATED FEATURES SUPPORTING DIAGNOSIS

Language disorder, particularly expressive deficits, may be found to co-occur with speech sound
disorder. A positive family history of speech or language disorders is often present. If the ability to
rapidly coordinate the articulators is a particular aspect of difficulty, there may be a history of delay
or incoordination in acquiring skills that also utilize the articulators and related facial musculature;
among others, these skills include chewing, maintaining mouth closure, and blowing the nose. Other
areas of motor coordination may be impaired as in developmental coordination disorder. Verbal
dyspraxia is a term also used for speech production problems.

Speech may be differentially impaired in certain genetic conditions (e.g.. Down syndrome, 22q
deletion, FoxPZ gene mutation). If present, these should also be coded.

Development and Course

Learning to produce speech sounds clearly and accurately and learning to produce connected speech
fluently are developmental skills. Articulation of speech sounds follows a developmental pattern,
which is reflected in the age norms of standardized tests. It is not unusual for typically developing
children to use developmental processes for shortening words and syllables as they are learning to
talk, but their progression in mastering speech sound production should result in mostly inteUigible
speech by age 3 years. Children with speech sound disorder continue to use immature phonological
simplification processes past the age when most children can produce words clearly.

Most speech sounds should be produced clearly and most words should be pronounced accurately
according to age and community norms by age 7 years. The most frequently misarticulated sounds
also tend to be learned later, leading them to be called the ''late eight" (/, r, s, z, th, ch, dzh, and zh).
Misarticulation of any of these sounds by itself could be considered within normal limits up to age 8
years. When multiple sounds are involved, it may be appropriate to target some of those sounds as
part of a plan to improve intelligibility prior to the age at which almost all children can produce them
accurately. Lisping (i.e., misarticulating sibilants) is particularly common and may involve frontal or
lateral patterns of airstream direction. It may be associated with an abnormal tongue-thrust
swallowing pattern. Most children with speech sound disorder respond well to treatment, and
speech difficulties improve over time, and thus the disorder may not be lifelong. However, when a
language disorder is also present, the speech disorder has a poorer prognosis and may be associated
with specific learning disorders.

CHILDHOOD-ONSET FLUENCY DISORDER (STUTTERING)

The essential feature of childhood-onset fluency disorder (stuttering) is a disturbance in the normal
fluency and time patterning of speech that is inappropriate for the individual's age. This disturbance
is characterized by frequent repetitions or prolongations of sounds or syllables and by other types of
speech dysfluencies, including broken words (e.g., pauses within a word), audible or silent blocl^g
(i.e., filled or unfilled pauses in speech), circumlocutions (i.e., word substitutions to avoid
problematic words), words produced with an excess of physical tension, and monosyllabic whole-
word repetitions (e.g., 'T-I-I-I see him"). The disturbance in fluency interferes with academic or
occupational achievement or with social communication. The extent of the disturbance varies from
situation to situation and often is more severe when there is special pressure to communicate (e.g.,
giving a report at school, interviewing for a job). Dysfluency is often absent during oral reading,
singing, or talking to inanimate objects or to pets.

Diagnostic Criteria 315.35 (F80.81)

A. Disturbances in the normal fluency and time patterning of speech that are inappropriate for the
individual’s age and language skills, persist over time, and are characterized by frequent and marked
occurrences of one (or more) of the following:

1. Sound and syllable repetitions.

2. Sound prolongations of consonants as well as vowels.

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

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

5. Circumlocutions (word substitutions to avoid problematic words).

6. Words produced with an excess of physical tension.

7. Monosyllabic whole-word repetitions (e.g., “I-I-I-I see him”).

B. The disturbance causes anxiety about speaking or limitations in effective communication, social
participation, or academic or occupational performance, individually or in any combination.

C. The onset of symptoms is in the early developmental period. (Note: Later-onset cases are
diagnosed as 307.0 [F98.5] adult-onset fluency disorder.)

D. The disturbance is not attributable to a speech-motor or sensory deficit, dysfluency associated

with neurological insult (e.g., stroke, tumor, trauma), or another medical condition and is not better
explained by another mental disorder.
Associated Features Supporting Diagnosis

Fearful anticipation of the problem may develop. The speaker may attempt to avoid dysfluencies by
linguistic mechanisms (e.g., altering the rate of speech, avoiding certain words or sounds) or by
avoiding certain speech situations, such as telephoning or public speaking. In addition to being
features of the condition, stress and anxiety have been shown to exacerbate dysfluency.

Childhood-onset fluency disorder may also be accompanied by motor movements (e.g., eye blinks,
tics, tremors of the lips or face, jerking of the head, breathing movements, fist clenching). Children
with fluency disorder show a range of language abilities, and the relationship between fluency
disorder and language abilities is unclear.

Development and Course

Childhood-onset fluency disorder, or developmental stuttering, occurs by age 6 for 80%- 90% of
affected individuals, with age at onset ranging from 2 to 7 years. The onset can be insidious or more
sudden. Typically, dysfluencies start gradually, with repetition of initial consonants, first words of a
phrase, or long words. The child may not be aware of dysfluencies.

As the disorder progresses, the dysfluencies become more frequent and interfering, occurring on the
most meaningful words or phrases in the utterance. As the child becomes aware of the speech
difficulty, he or she may develop mechanisms for avoiding the dysfluencies and emotional
responses, including avoidance of public speaking and use of short and simple utterances.
Longitudinal research shows that 65%-85% of children recover from the dysfluency, with severity of
fluency disorder at age 8 years predicting recovery or persistence into adolescence and beyond.

Risk and Prognostic Factors

Genetic and physiological. The risk of stuttering among first-degree biological relatives of individuals
with childhood-onset fluency disorder is more than three times the risk in the general population.

Functional Consequences of Childhood-Onset Fiuency Disorder (Stuttering)

In addition to being features of the condition, stress and anxiety can exacerbate dysfluency.
Impairment of social functioning may result from this anxiety.