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cal tract. Children with speech delay vs language delay may present similarly; however, it is important to remember that a child who
is delayed in speech may in fact have functioning communication
centers with a deficit elsewhere in the speech production pathway.
Alternatively, children with language disorders may retain proper articulation and grammatical sequencing with limits elsewhere in language comprehension. According to the US Preventative Service Task
Force,1 approximately 5% to 10% of children in the United States fail
to reach early language milestones and are diagnosed as having
speech or language delay. Delay in speech development can have
an impact on proper language acquisition and consequently impair
the childs ability to communicate, gain knowledge, and develop social connections. Accordingly, there is an impetus to identify as early
as possible children with speech delay in order to implement early
intervention and maximize the childs potential. Language acquisition is an ongoing process; however, there is strong evidence that a
critical period exists during the first 3 years of life when cortical scaffolding is still being heavily laid and molded. During this period, ex-
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Receptive
Expressive
6 mo
Laughsb
Turns to voicec
Vocalizes (cooing)b
NA
9 mo
Babblesa
Imitates vocalizations
and soundsb
Says 1 wordc
Waves bye-byec
15 mo
Says 1 wordb
NA
Says 3 wordsc
Waves bye-byeb
18 mo
Says 3 wordsb
Says 6 wordsc
2y
Points to 2 picturesa
Combines words
Names 1 picturec
Knows 2 actions
ters (ie, auditory or vocalization deficits) as well as global processes that contain speech/language pathology within their
presentation (intellectual disabilities, acquired neurological damage, pervasive developmental disorders). The common subtypes of
secondary causes are outlined in the Secondary Disorders section.
Normal developmental milestones and indicators of normal
hearing function are shown in Table 1.3 The National Institute of Deafness and Communication Disorders provides an extended checklist that can be used with parents to track proper hearing and language progress.2 Determining the cause of a childs speech delay can
be difficult, but the earlier a child is properly evaluated, the earlier
an intervention can be initiated and the more likely the child will successfully overcome his or her deficit. In general, evaluation by a
speech-language pathologist should be considered if a child consistently seems to be failing to meet milestones or the child manifests
any of the warning signs listed in Table 2.3
Referral to a speech-language pathologist and/or audiologist may
be all that is needed to assist young children with speech or language delay. Otolaryngologists are accustomed to working closely
with audiologists and speech-language pathologists and therefore
can assist primary care physicians in the evaluation and management of these children.
Names 1 pictureb
Speech is half understandablec
3y
Knows 2 adjectivesc
NA
Names 4 picturesb
Names 1 colorc
Speech all understandablec
4y
Defines 5 wordsc
NA
Names 4 colorsc
Speech all understandableb
Abbreviation: NA, not applicable.
a
See McLaughlin.3
posure to language and properly functioning cortical language centers are required to build the groundwork for communication. Many
language-processing deficits can be improved with early speechlanguage intervention.2
When a primary care physician becomes concerned that a child
is not developing speech normally, the child is sometimes referred
to an otolaryngologist to assess his or her hearing and oral motor coordination. Worried parents describing sparse word production or
largely unintelligible speech from their child characterize the typical presentation of a speech delay referral. Thus, the otolaryngologist needs to know the major reasons why a child can be delayed in
developing speech. Causes can be divided into primary and secondary in origin. Primary language disorders are defined by cortical function deficits specific for language production or comprehension.
Thus, they are not speech disorders by definition but rather language disorders. Such deficits can be focal, affecting a specific aspect of language production or reception, or global, implying a complete detriment to language processing. These children may present
with speech delay, but the root cause lies in their communication
deficits. The category of secondary speech delay consists of problems receiving or producing speech despite intact language cen260
Primary Disorders
Primary language disorders, as mentioned herein, are disorders in
which language deficits are central, with speech delay as a common presenting sign. Expressive language disorder is characterized by normal comprehension and normal intelligence, but difficulty in speech content production suggests a focal cortical defect.
These children may exhibit variable speech sound ability because
they can exhibit speech difficulties on top of their language disorder. Early detection may be difficult because the signs are similar to
those of other causes of speech delay; however, detection and intervention are crucial because speech-language therapy is often very
beneficial.3 Receptive language disorder is defined by normal auditory function with disruption in comprehension centers resulting in
problematic language acquisition. These children respond to auditory stimuli but have difficulty understanding and developing language skills based on reduced cognitive capacity for phonological
memory and semantic encoding but have also been shown to benefit from speech-language therapy.3
Specific language impairment (SLI) is a developmental language disorder manifesting as delayed or impaired language progression in a child with normal comprehension, intelligence, and
hearing with varied speech articulation. The presentation is variable but can affect expressive or receptive language. A common presentation of expressive SLI is characterized by verb syntax errors,
such as mixing present and past tenses or excluding verbs from
phrases, while an example of receptive SLI is seen with children who
have difficulty comprehending complex verbal content, such as multifaceted directions or wh questions. Specific language impairment , by 1 account5 surveying 7200 American children, affects about
7% of kindergarteners in the United States and showed that parental education and socioeconomic status were correlated with SLI diagnosis. Although many biological theories have also been postulatedabnormal cortical architecture and exposure to aberrant
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Secondary Disorders
The list of secondary language disorders can be subdivided into types
of primary abnormalities, including hearing defects, anatomical abnormalities, intellectual disabilities, neurological insults, pervasive
developmental disorders, and psychosocial issues (not directly discussed herein).
Auditory Defects
Hearing impairment must always be ruled out as a cause of speech
delay. A child with any level of congenital or acquired bilateral hearing impairment will not develop normal speech and will likely posjamaotolaryngology.com
Receptive
Expressive
12 mo
NA
15 mo
18 mo
2y
2.5 y
3y
NA
sess a level of speech delay. As described herein, language development relies on language stimuli exposure within the first several
years of life. Approximately 12 000 infants (1-3 per 1000) are born
with hearing defects in the United States per year.11 The current standard of care in the United States includes newborn hearing evaluation. Two modalities are commonly used in newborn hearing screening: the Auditory Brainstem Response (ABR) test and the Otoacoustic
Emission (OAE) test. Briefly, the ABR test involves auditory stimulation and measuring the cortical electrophysiological response
reflective of the audio information pathway. Otoacoustic emission
are sound waves produced by the cochlea on hair cell movement,
which can be detected by probes placed in the external meatus assessing cochlear function. Performing both is integral to accurate detection and diagnosis of specific auditory abnormalities.11,12 As with
all cases of hearing loss, early diagnosis and treatment intervention
with auditory augmentation are the standard of care to prevent
secondary language delay.
Secondary to the implementation of the universal newborn hearing screening, a previously unrecognized disorder was documented. Auditory neuropathy or auditory dyssynchrony, now
known as auditory neuropathy spectrum disorder (ANSD), is recognized at birth in infants with normal OAE and absent ABR results. The cause is a dysfunctional vestibulocochlear nerve preventing proper communication between the inner ear and brain. Recent
studies have proposed potential risk factors such as prematurity, perinatal hypoxia or neurological insults, meningitis, and hyperbilirubinemia; however, the current volume of data is inconclusive. Prevalence data are also limited, but up to 15% of infants diagnosed as
having hearing loss may have ANSD, and there is an overall incidence of 1 to 3 per 10 000 births.13 Most cases resolve spontaneously by 3 months of age; however, nonresolving ANSD can have deleterious effects on speech development with limited response to
speech-language therapy.14
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Anatomical Defects
Anatomic abnormalities can affect a childs ability to speak in a normal way. Structural defects can also affect speech production and
thus acquisition; however, these cases are much more easily defined owing to associated signs and symptoms. Obstructive lesions often present with respiratory symptoms, such as stridor, and
thus are addressed long before speech difficulties become a problem. Ankyloglossia is another anatomical defect that is often implicated in speech pathology. Prevalence has been estimated at up to
10% in neonates; however, many are of mild character and spontaneously resolve.17 Research has both endorsed and discounted
speech improvements after surgical correction.18,19 Kotlows20 classification divides cases into 4 categories based on range of tongue
extension. Severe defects are often detected during the neonatal
period owing to latching difficulties during breastfeedingcases in
which early intervention is essential. Intervention in milder cases is
controversial because children classified having as type I defects often experience spontaneous correction.17 Owing to the relatively lowrisk nature of the procedural options, we advise correcting ankyloglossia in children younger than 3 months as referral to an
otolaryngologist at this age suggests a functional defect. In contrast, children 2 years or older with speech pathologic deficits should
be referred for speech evaluation before performing an operation
because a short frenulum is most likely not the root cause of the delay. The ability to elevate the tongue tip to the alveolar ridge (to produce sounds /t/, /d/, /l/, /n/) and to protrude the tongue forward (/th/
sound) does not require extensive tongue range; thus, ankyloglossia is rarely the origin of a speech problem.
Neurological Insults
The American Speech-Language-Hearing Association (ASHA) defines childhood apraxia of speech (CAS) as a neurological childhood speech sound disorder in which precision and consistency of
movements underlying speech are impaired in the absence of neuromuscular deficits secondary to neurologic insults or neurobehavioral defects.23 Essentially, CAS is a neurological disorder resulting in poor intelligibility owing to the inability to coordinate the
complex motor movements required in speech. The defect may extend to other motor movements as well. These children have normal intelligence, language comprehension, and language production; however, speech production is affected with varying severity.
A Cochrane Review reveals a lack of proven diagnostic markers but
points to 3 required features to make the diagnosis: (1) inconsistent error in consonant and vowel production when repeating the
same syllables or words, (2) lengthened and impaired transition from
syllable to syllable, and (3) impaired prosody (rhythm of speech). Although definite evidence of treatment efficacy is limited, speechlanguage therapy intervention likely precedes the best outcome.24
Cerebral palsy is a term describing a nonprogressive motor dysfunction syndrome due to neurological damage, often secondary to
prenatal or perinatal factors. Up to 35% of children with cerebral palsy
exhibit variable difficulty with language production, owing to damage to important central language centers. These children generally retain their speech and/or language defects throughout life. In
this context, their speech disorder can be a mix of dysarthria from
motor discoordination and central deficits. This is a more focused
example of an acquired neurological insult resulting in speech and/or
language delay. Again, intensive speech-language therapy is crucial to maximize the childs speech outcome.25
Neurodevelopmental Disorders
Developmental disorders make up an increasing proportion of language delay cases as the methods of detection have recently become more defined. The term neurodevelopmental disorder encompasses a variety of conditions characterized by abnormal
neurological growth during a childs developmental period. Neurodevelopmental disorders include intellectual disabilities (mentioned herein), communication disorders, autism spectrum disorder (ASD), attention deficit disorders, motor disorders, and specific
learning disorders, all of which can present with speech delay. We
have focused on ASD because of its epidemiology and the integral
role language pathology plays in the presentation of a child with this
disorder.
Autism spectrum disorder often presents with speech delay owing to the pathological development of communication-limited acquisition and progression of abilities, affecting both verbal and nonverbal forms as well as social interaction. Since the release of the
Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition,26
(DSM-5) in 2013, the ASD classification now encompasses and does
not differentiate autistic disorder from Asperger syndrome and pervasive developmental disorder not otherwise specified. Instead, ASD
is diagnosed with specifiers and graded severity (Box).27 Autism
spectrum disorder, as defined by DSM-IV, follows an estimated preva-
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Box. Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Criteria for Autism Spectrum Disordera
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):
1. Deficits in social-emotional reciprocity, ranging, eg, 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, eg, 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, eg, 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 communication impairments and restricted, repetitive patterns of behavior.
B. Restricted, repetitive patterns of behavior, interest, or activities, as manifested by at 2of the following, currently or by history (examples are
illustrative, not exhaustive):
1. Stereotyped or repetitive motor movements, use of objects, or speech (eg, 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 (eg, 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, fixed interests that are abnormal in intensity or focus (eg, strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).
4. Hyperreactivity or hyporeactivity to sensory inputs or unusual interests in sensory aspects of the environment (eg, 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.
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 Diagnostic and Statistical Manual of Mental Disorders (Fourth Edition) diagnosis of autistic disorder, Asperger 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, whose symptoms do not otherwise 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
a
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more beneficial as a screening tool. One validated option is the Modified Checklist for Autism in Toddlers (MCHAT) questionnaire which
is a 23-question screening survey aimed at identifying the presence of typical developmental behaviors.29 Knowing several screening questions to ask parents in the physicians office can help to more
quickly identify children with ASD who require targeted therapies.
Other screening tools can be found at http://www
.commonwealthfund.org/Resources/2007/Dec/Part-II-Guides-to
-Facilitate-Your-Choice-and-Use-of-Screening-Instruments.aspx.
Although children with autistic spectrum disorder have difficulty with verbal and social communication, often they have the ability to communicate via nonverbal modalities. Subjective accounts
of the use of electronic communication media, such as the use of
touch tablets, are overwhelmingly positive. This follows the theory
that people with autism likely have altered wiring of information
processing and production centers such they may construct an alternative mental view of the worldfor example, thinking in images rather than languageand may be better served with alternative means of communication.
Growing up with autism is challenging for the patient as well as
the family. Insight into the challenge and drive to overcome life with
autism is beautifully displayed in the following acclaimed poem written by Scott Lentine,30 a person with high-functioning autism working to increase awareness of autism spectrum.
Just a Normal Day
Never knowing what to say
Never knowing what to do
Always looking for clues
Just a normal day
Feeling unsure
Totally perplexed with everyday life
ARTICLE INFORMATION
Submitted for Publication: October 14, 2013;
accepted November 19, 2013.
Published Online: January 16, 2014.
doi:10.1001/jamaoto.2013.6368.
Author Contributions: Both authors had full access
to all of the data in the study and take responsibility
for the integrity of the data and the accuracy of the
data analysis.
Study concept and design: Grundfast.
Acquisition of data: Tonn, Grundfast.
Analysis and interpretation of data: Tonn,
Grundfast.
Drafting of the manuscript: Tonn, Grundfast.
Critical revision of the manuscript for important
intellectual content: Tonn, Grundfast.
Study supervision: Grundfast.
Conflict of Interest Disclosures: None reported.
Previous Presentation: Some of the content of
this review article was included in an instructional
course presented by Dr Grundfast at the 2012
Meeting of the American Academy of
OtolaryngologyHead and Neck Surgery;
September 9-12, 2012; Washington, DC.
Additional Contributions: Hope Dickenson, MS,
CCC-SLP, and Kara Corley, MS, CCC-SLP, Division of
the Speech-Language Pathology, Department of
Otolaryngology, Childrens Hospital Boston,
264
Conclusions
Otolaryngologists must remember that the perception that a child
is delayed in developing speech could simply be determined to be
an overly anxious parent who has an unrealistic expectation about
the timing for onset of normal speech, or could be an early sign of
significant disorders such as autism spectrum disorder The ability
to speak is a significant milestone in child development, one that is
much anticipated and celebrated by parents. Mastery of language
skills, including speech, is important for normal communication and
successful education. Otolaryngologists often are able to assist primary physicians in the complete evaluation of a child delayed in developing speech. To assist in this evaluation, otolaryngologists should
be familiar with the milestones for early childhood speech development, know the common causes of speech delay, understand the
difference between speech and language, and know the various
treatment options available for assisting children with speech delay. Early intervention gives a child the best chance achieiving normal communication skills.
REFERENCES
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