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ADC Online First, published on July 24, 2015 as 10.1136/archdischild-2014-307394
1
Department of Child Life &
Health, Salvesen Mindroom
Centre, School of Clinical
Sciences, University of
Edinburgh, Edinburgh, UK
2
Speech and Hearing Sciences,
Queen Margaret University,
Queen Margaret University
Drive, Edinburgh, UK
Correspondence to
Professor Anne OHare,
Salvesen Mindroom Centre,
Department of Child Life
& Health, School of Clinical
Sciences, University of
Edinburgh, 20 Sylvan Place,
Edinburgh EH9 1UW, UK;
aohare@ed.ac.uk
Received 10 March 2015
Revised 16 June 2015
Accepted 5 July 2015
To cite: OHare A,
Bremner L. Arch Dis Child
Published Online First:
[please include Day Month
Year] doi:10.1136/
archdischild-2014-307394
Copyright Article author (or their employer) 2015. Produced by BMJ Publishing Group Ltd (& RCPCH) under licence.
Management of developmental speech
and language disorders: Part 1
Anne OHare,1 Lynne Bremner2
ABSTRACT
The identication of developmental problems in a childs
acquisition of speech, language and/or communication is
a core activity in child surveillance. These are common
difculties with up to 15% of toddlers being late
talkers and 7% of children entering school with
persisting impairments of their language development.
These delays can confer disadvantages in the long term,
adversely affecting language, cognition, academic
attainment, behaviour and mental health. All children
presenting with signicant speech and language delay
should be investigated with a comprehensive hearing
assessment and be considered for speech and language
therapy assessment. Socioeconomic adversity correlates
with delayed language development. Clinical assessment
should conrm that the presentation is denitely not
acquired (see part 2) and will also guide whether the
difculty is primary, in which there are often familial
patterns, or secondary, from a very wide range of
aetiologies. Symptoms may be salient, such as the
regression of communication in <3-year-olds which
ags up autism spectrum disorder. Further investigation
will be informed from this clinical assessment, for
example, genetic investigation for sex aneuploidies in
enduring primary difculties. Management of the speech
and language difculty itself is the realm of the speech
and language therapist, who has an ever-increasing
evidence-based choice of interventions. This should take
place within a multidisciplinary team, particularly for
children with more severe conditions who may benet
from individualised parental and educational supports.
INTRODUCTION
Speech and language are not synonymous.
Language is the coding symbol system that permits
conceptualisation, reasoning and understanding
and speech is but one vehicle for language in which
a phonemic system combines sounds to convey
meaning. Other languages can be conveyed
through, for example, signing or icons.
Screening for speech and language impairments
is not recommended and surveillance, in which the
clinician responds to parental concerns, is the
cornerstone of identifying problems.1 There are
many different denitions of signicant delay and
functional intelligibility with the suggestion that
late talking toddlers aged between 24 and
30 months are those who have a vocabulary devel-
opment of <50 words and no combinatorial
speech.2
TYPICAL DEVELOPMENT OF SPEECH
PRODUCTION
Speech production requires integrity of multiple
systems; phonological (cognitive and linguistic),
OHare A, Bremner L. Arch Dis Child 2015;0:16. doi:10.1136/archdischild-2014-307394
Review
articulatory (sensorimotor), praxic (planning/pro-
gramming of spatiotemporal parameters of move-
ments of the articulators for speech) and prosodic
(stress, intonation and voice quality that conveys
meaning and affect).
Most children who present with problems in
speech production have difculties with their
phonological system.
The phonological component of speech has rules
of contrast (the sound system) and sequence (sound
structure; table 1). By 6 months, infants can make
most of the 46 phonemes that are required for the
English language. However, speech is a highly
complex skill involving rapid, precise and accurate
movements of the organs of articulation.3
Thus, the syllabic babble, for example, ba, da
characteristic of infants of 67 months, progresses
with the development of two to three words with
meaning at the age of 1 year to two-word to three-
word combinations at the age of 2124 months.
During the 6 months after the onset of word com-
binations in typically developing children, there is a
rapid increase of up to 500 items of vocabulary.
TYPICAL DEVELOPMENT OF LANGUAGE
Language is made up of the components shown in
table 2. Receptive language is comprehension and
expressive language supports the ability to convey
information, feelings, thoughts and ideas.4
Language milestones are shown in table 3.
Late talking is more likely to alert parents con-
cerns than comprehension difculties but there is a
wide range of normal for onset of speech; 97th
percentile for single words in girls is 20 months
and for boys is 23 months, for three-word to four-
word sentences for girls and boys is 3 years. A
rough guide to the mean length of utterance for
typically developing children can be calculated
from the childs age in years+1; an average
3-year-old will have a mean length of utterance in
their sentences of four words. Girls and rst-born
children show signicant advantages in using sen-
tences. Intelligibility improves with improving
speech pronunciation and there is a rule of fours
with respect to intelligibility: divide a childs age
into four and the quotient is approximately equal
to the amount of speech that should be understand-
able; a 1-year-old 25% of the time, the 2-year-old
50% of the time, a 3-year-old 75% of the time and
a 4-year-old close to 100% of the time.5 Children
growing up in bilingual environments will use a
mixture of their languages which becomes less
marked as language acquisition progresses. They
should usually become procient in both languages
by the age of 5 years.4
1
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Review
Table 1 Typical development of speech sounds
Expected speech sounds and processes
p, b, t, d, n, m, h, s
Omitting of final consonants, eg, tapta
Consonant harmony, eg, dog gog
Reduplication process, eg, bottlebobo
The addition of w
Consonant harmony, eg, duckguk should be resolving
although the ends of words may still be omitted
The addition of z, f
Processes of fronting, eg, cartar
Consonant blends are reduced spoonpoon
Other sounds are emerging, eg, k, g, sh, ch
Most sounds are now heard but emerging ones do include k, g,
sh, ch, j, r, y
Fronting, eg, cattat should be resolving
Processes include stopping of z, sh, eg, zip=dip, shoe=do
Most sounds are correct
Some processes are still evident, eg, thf: thank you becomes
fank you and rw: rabbit becomes wabbit
Some ongoing speech sound difficulties with r and th may be 67
ongoing
THE LATE TALKING TODDLER
Around 15% of 2-year-olds are late talking toddlers and com-
prise those with both primary and secondary speech and lan-
guage disorders. The aetiology is multifactorial, for while
speech and language problems tend to run in families, there are
strong socioeconomic inuences that interact with genetic and
medical factors. An example would be the mild articulatory
pattern seen in the 2-year-old with recurrent conductive hearing
loss, which when compounded with low maternal education is
associated with expressive language delay.6
Speech and language problems are more often than not
linked, though they may appear to progress or resolve at dif-
ferent rates.7 Around half of late talking toddlers will have
normal speech and language development when followed up
at the age of 3 to 5 years, but they may still have a reduced
mean length of utterance even when vocabulary development
has caught up. Children with an underlying receptive lan-
guage delay may have persisting problems. A watch and wait
philosophy is often advocated but some would argue that this
is inappropriate.8 9 Although the evidence on risk factors
such as male gender, family history and low birth weight is
too poor to recommend targeted screening,10 the further
impact of social disadvantage on speech and language skills
by the age of 4 years suggests a role for enhancing the lan-
guage environment for all late talking or disadvantaged
toddlers.11
Table 2 Definitions of language
Morphemes A unit of meaning. Some morphemes can change meaning, eg,
singular to plural, one tense to another
Syntax The rules determining the combinations of words to form
sentences
Semantics The meaning of language
Pragmatics The way in which language is used to communicate in context, eg,
initiating a conversation, remaining on topic, relating the language
to the context or shared knowledge and identifying the desires
and feelings of others
2 OHare A, Bremner L. Arch Dis Child 2015;0:16. doi:10.1136/archdischild-2014-307394
Table 3 Language milestones
Age Should be achieved
(years) by this age Milestone
2 Expressive language
10 weeks Have a social smile
12 weeks Gives a social vocalisation such as cooing
8 months Babbling with a variety of consonants and showing
2
sustained interest in people, surroundings and toys
21 months Have a single word vocabulary of up to 50100 words
and two-word utterances are emerging. Can use
3
language to communicate basic needs
2 years Links two to three words together
3 years Emergence of complex sentences
34 5 years Uses more adult-like grammatical structures although
still with some errors and is intelligible the majority of
the time
Receptive language
5 6 months Responds to different tones of voice
12 months Know their own name and the meaning of no and
several other words
18 months Able to select an object on verbal request and point
to body parts and follow simple commands in context
21 months Can understand a range of single words and simple
phrases
2 years Can follow commands containing two key ideas
2 years Can identify everyday objects by their use and enjoy
simple familiar stories
3 years Can begin to understand longer and more complex
sentences, understands two to three key words in an
instruction. Can understand past tense and some
simple time words
4 years Can follow instructions with three verbal concepts
5 years Can understand most everyday conversations unless
they are very ambiguous
5 years Can understand implied meaning in language such as
simple jokes and puns
When there is an apparent lack of normal speech and lan-
guage development, the clinician should reect on whether the
child had employed the important prelinguistic skills that under-
pin speech that are seen from 912 months; joint attention skills
whereby the infant is able to share attention with other people
about objects and events of mutual interest, and be able to
follow the attention and gesturing of another person. These are
fundamental decits in autism spectrum disorder (ASD).12
However, non-ASD late talking toddlers can also have some
differences in their lexical acquisition, communicative intent,
use of communicative gestures, phonetic and phonological
skills, symbolic play development, social skills development and
behaviour. Therefore, the differential diagnosis may be complex
for some toddlers. Some features such as echolalia, while com-
monly seen in the preschooler with ASD, also feature in recep-
tive language difculties. An important clue to ASD is language
regression in the second year of life.13 This language loss is
highly specic to autism and losing language skills after the
onset of rst phrases is followed by an uncertain long-term cog-
nitive development.14 Any child presenting with lack of speech/
language development should be assessed for ASD and the
reader is referred to recent national guidelines for recommenda-
tions.12 15 If the speech regression is not associated with the
severe behavioural deterioration characterised by autism, one
needs to consider the very rare possibility of an onset epileptic
dysphasia16 which is covered more fully in Part 2: Acquired dis-
orders of speech and language.
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SPECIFIC SPEECH AND LANGUAGE IMPAIRMENTS
Specic speech and language impairments affect up to around
7% at school entry17 18 This is a developmental language dis-
order that affects the development of an individuals spoken or
receptive language despite their having adequate intelligence,
accessibility to learning and no comorbid neurological decit.
Language skills are strongly associated with literacy levels and
both are predictive of educational attainment after controlling
for IQ and maternal education.19 Affected children have higher
rates of emotional, behavioural and attention decit hyperactiv-
ity disorder (ADHD) symptoms than those whose language is
typically developing.20 Diagnostic and Statistical Manual for
Mental Disorders (DSM)-5 has also recently recognised prag-
matic language impairment as a condition discrete from ASD, in
which a child experiences problems employing language in
everyday use without the degree of social interactional and
restricted repetitive behaviours that characterise the latter.21
DSM-5 has not included discrepancy criteria between verbal
and non-verbal cognition for a denition of specic speech and
language impairment. There is no evidence towards a differen-
tial response to any intervention for speech and language
impairments for children with or without these discrepancies.
Therefore, the traditional distinction for specic speech and lan-
guage impairment in which children have specied levels of
non-verbal intellect in the normal range has been recently
challenged.22
SECONDARY SPEECH AND LANGUAGE DISORDERS
A proportion of late talking toddlers and children who present at
a later stage with speech and language difculties have a secondary
speech and language disorder. This includes children with global
developmental delay (GDD) that may or may not be associated
with later intellectual impairment. However, some children who
nevertheless have a primary speech and language delay will still
meet the denition of GDD as they have two domains of affected
development, with delayed ne motor skills accompanying their
delayed speech and language. However, ultimately they will func-
tion in the normal intellectual range.23 Secondary speech and lan-
guage delay also occurs with intellectual impairment/learning
disability,24 ASD9 and those with sensorineural hearing impair-
ment.25 Clinicians also need to recognise when a speech disorder
signals rare associated conditions such as Duchenne muscular dys-
trophy (where a third of children can present rst with delayed
speech before onset of motor deterioration), onset neurometabolic
or acquired disorders and those where characteristics of the childs
speech production suggest associated syndromic aetiologies26 with
or without craniofacial anomalies. These will receive some atten-
tion in this review commensurate with their paediatric importance
clinically, even though they are individually rare.
UNCOMMON AND/OR SEVERE SPEECH PRODUCTION
PROBLEMS
Epilepsy and neurodevelopmental disorders of language
There are a group of speech and language disorders now recog-
nised in DSM-5 which are associated with new-onset epilepsy:
early delay in the <3-year age group, expressive/receptive language
disorders (specic language impairments), speech disorders, disor-
ders of social communication (without autism) and dysuency.27 It
is unclear whether some anticonvulsants exacerbate the speech dif-
culties and some have advocated avoiding carbamazepine and sub-
stituting lamotrogine in children with rolandic epilepsy.
OHare A, Bremner L. Arch Dis Child 2015;0:16. doi:10.1136/archdischild-2014-307394
Review
Childhood verbal dyspraxia/apraxia of speech
Childhood apraxia of speech (CAS) is a severe, persisting impair-
ment of speech production in which there is disruption of motor
programming which may be associated with oro-motor dys-
praxia. The speech is often unintelligible secondary to inconsist-
ent errors of omission, substitution and distortion of consonants
and vowels along with prosodic impairments.28 There may also
be some degree of spastic dysarthria conferring hypernasality and
impaired laryngeal quality resulting in difculties modulating
pitch and loudness. There is usually associated receptive and
expressive language disorder and reading and spelling impair-
ments but verbal skills may be generally poorer than non-verbal
skills and some individuals have average non-verbal skills. FOXP2
was the rst gene described which was associated with this type
of severe speech disorder and a range of point mutations, large
deletions, chromosomal structural variations including transloca-
tions and uniparental disomy have been reported.29
Dysarthria in syndromic conditions
Developmental dysarthria is very unusual but does occur in
bilateral perisylvian or perirolandic anomalies of polymicrogyria
and schizencephaly, vermal anomalies including agenesis,
atrophy or hypoplasis of the cerebellum and as part of a
Jouberts syndrome. The dysarthria is usually severe.30 These
conditions can also be associated with CAS. Another important
differential diagnosis from CAS is WorsterDrought syndrome,
sometimes termed congenital suprabulbar paresis, which is a
permanent movement disorder of the bulbar muscles. There are
swallowing, feeding, speech and saliva control impairments, the
bulbar dysfunction is severe and persistent, there is usually a
learning disability and the speech prognosis is poor.31
CLINICAL FEATURES OF DEVELOPMENTAL SPEECH AND
LANGUAGE DISORDERS
Figure 1 is a guide through the key clinical features to help in
the differential diagnosis of developmental speech and language
disorders. There is a huge range of potential conditions that
give rise to secondary speech disorders and it is very important
to assess growth, body habitus, occipitofrontal diameter, evi-
dence of dysmorphic features, neurocutaneous stigmata, neuro-
logical and developmental status. The behavioural phenotype of
the speech and language difculty may be helpful, for example,
supernumerary X and Y chromosomes are related to depressed
structural and pragmatic language skills and increased autistic
traits. The addition of a Y chromosome has a bigger impact on
pragmatic language and the addition of an X chromosome has a
greater impact on the structure of language.32 Hypernasal
speech with weak production of certain consonants may indi-
cate velopharyngeal insufciency which is impaired closure of
the velopharyngeal sphincter mechanism during speech. There
may be other oromotor features such as nasal reux of liquids
and food. There may be an associated submucus cleft palate, it
can also occur post adenotonsillectomy or when there is under-
lying neurological dysfunction or genetic syndromes such as
22q deletion.
There should be careful inspection of the anatomy of the oro-
motor region. There is an increased rate of malformation and
developmental disability seen in children who have cleft lip with
cleft palate although a recent antenatal study in a 2-year
follow-up showed no children with clefting of the lip alone had
major additional diagnoses.33
The neurological examination of the oro-motor region is
important. In clinical practice, it is usually apparent that a
3
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Figure 1 Differential diagnosis in developmental speech and language disorders: guide employing key clinical features.
disorder is onset but sometimes, because of the stage of the
childs development, it can be challenging and the critical factor
is to not only recognise acquired disorders because of their
implications for investigation and prognosis but also judge
whether there is any imminent risk to protection of the
airway.34 Developmental dysarthrias may have accid, spastic,
extrapyramidal or ataxic elements. Conditions such as dys-
trophia myotonica and Prader Willi syndrome as well as con-
genital dysplasia of the brainstem and dysarthrias that
accompany congenital abnormalities of the cerebellum are all
rare causes of developmental dysarthria, but only the lower
motor neurone accid dysarthria interferes substantially with
the jaw, gag and cough reex and therefore leaves the airway
vulnerable.
The clinical assessment of a speech disorder must include
input from a speech and language therapist as only they can
determine the full scope of a childs speech sound inventory and
language patterns. They have a wide range of formal standar-
dised assessments available that add to their clinical ndings.35
INVESTIGATIONS
The investigation of secondary speech disorders is naturally
informed by the primary cause, with evidence-based recommen-
dations available for conditions such as hearing impairment,36
GDD and learning difculties24 and ASD.12
Some of the genetic investigations are also appropriate in
primary speech and language impairments, for example, sex
aneuploidies. Microarray analysis should be considered as a rst-
line test in all children with velopharyngeal insufciency and
associated features as up to a third of children may have 22q11
deletions.37
Primary familial speech and language impairments however
usually have multifactorial polygenic transmission not amenable
to clinical investigation at present. This picture may change as
the mechanisms are unravelled. Vernes et al38 have described
4 OHare A, Bremner L. Arch Dis Child 2015;0:16. doi:10.1136/archdischild-2014-307394
how a nonsense word repetition task (considered to be a
measure of phonological working memory and a heritable
behavioural marker of specic language impairment (SLI)) is
associated with CNTNAP2 polymorphisms involving a gene that
encodes a neurexin which is expressed in the developing human
cortex.39 FOXP2 downregulates CNTNAP2 and mutations cause
a severe monogenic speech and language disorder as discussed
previously in childhood verbal dyspraxia.38
Cranial MRI is only indicated for the very severe speech pro-
duction problems of Worster Drought and perisylvian syn-
dromes and other syndromic dysarthrias and severe dyspraxias.
Nasometry, nasal airow measurements and radiographic and
endoscopic evaluations of palatal movements may be indicated
where there is suspected velopharyngeal incompetence but
would be managed with a cleft palate team.
INTERVENTIONS AND PROGNOSIS
Speech and language therapy is effective for the developmental
speech and language impairments that involve expressive,
phonological and vocabulary difculties. There appears to be
less effect on receptive language outcomes.40 Although the
speech and language therapist is the primary professional
charged with the management of children with speech and lan-
guage impairments, particularly children with more severe
speech and language impairments may benet from multidiscip-
linary management with parental support and modications to
the educational environment.41
However, as most trials of therapy in SLI consider language
and speech measures as the primary outcome, it is unclear
whether also managing and supporting the childs continuing
communication difculties ameliorate secondary effects such as
behavioural problems. Disorders of speech production are gen-
erally considered to require direct attention from the speech
and language therapist and therefore such children are often
excluded from indirect therapy trials. However language
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therapy is also effective when delivered indirectly under the
therapists guidance, by parents, educational staff and speech
and language therapy assistants.
Late talkers aged between 24 and 30 months may respond to a
range of direct and indirect therapy interventions: focused stimu-
lation, modelling of single words and individual speech and lan-
guage therapy by increasing their vocabulary and mean length of
utterances.8 4244 By school age, direct and indirect intervention
continues to be effective for expressive language45 and may
support skills which underpin reading comprehension.46
Some of the severe speech production problems such as CAS
and Worster Drought syndrome are seemingly intractable with a
poor evidence base for the treatment options,28 so intelligibility
remains poor and alternative and augmentative communication
is indicated.47 The long-term outcome for some children with
persisting speech and language impairment can be poor when
associated with a reduction in academic achievement, an
increase in emotional and behavioural difculties and reduced
prospects for employment and training.11 However, this is by
no means universal and even for children with SLI who required
specialist educational placement in Language Units, over a third
will have normal language structure by the time they reach 16.
However as communication is fundamental to the initiation
and maintenance of successful peer relationships, it is perhaps
not unexpected that 40% of these SLI adolescents continue to
experience impaired peer interaction.19 48
SUMMARY
Slow speech and language acquisition is the most commonly
identied developmental concern. Fifteen per cent of toddlers
are late talkers and 7% of children enter school with primary
speech and language impairment. The multifactorial aetiology,
clinical heterogeneity and differential diagnosis of both primary
and secondary speech and language disorders confer complexity
to their management. Differential diagnosis ranges from GDD,
intellectual impairment, ASD and sensorineural hearing impair-
ment through to rare intractable primary disorders of speech
production with CAS and syndromic dysarthrias. Recent
advances in genetics and cranial imaging have expanded the
scope of investigation and prognostication and there is an evi-
dence base for intervention, particularly for phonological disor-
ders, speech production and expressive language difculties.
Contributors AO planned and wrote this review with the assistance of her senior
speech and language therapy colleague, LB. They work together as senior clinicians
in the communication clinic in the Royal Hospital for Sick Children, Edinburgh.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
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 Downloaded from http://adc.bmj.com/ on July 31, 2015 - Published by group.bmj.com

Management of developmental speech and

language disorders: Part 1
Anne O'Hare and Lynne Bremner

Arch Dis Child published online July 24, 2015

Updated information and services can be found at:

http://adc.bmj.com/content/early/2015/07/24/archdischild-2014-30739
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References This article cites 38 articles, 6 of which you can access for free at:
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Collections Autism (122)
Child and adolescent psychiatry (paedatrics) (635)
Pervasive developmental disorder (127)

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