Autistic

Spectrum
Disorders
and Specific
Language
Impairment
Department of
Psychology, University
of Athens
Nikolaos-Emmanouil Ioannou

Summary
The relationship between Specific Language Impairment (SLI) and Autistic Spectrum
Disorders (ASD) is a subject of intense debate. In theory there is a clear distinction
between the two. In practice though, the existence of subtypes in each disorder that
phenotypically overlap with each other creates doubts in regards to whether SLI
belongs to a category of its own or is part of the spectrum of Autism Disorders.
Since both categories of disorders are believed to be caused by mostly biological and
genetic factors, research about common neurological attributes between the two
also holds a great deal of interest. This essay shall attempt to present results from
the currently existing literature about the overlap between these two disorders.

Introduction
The diagnosis of Specific Language Disorder (SLI) is used to describe cases where a
child fails to sufficiently develop its linguistic capabilities compared to other children
in the same developmental stage without an obvious reason (Bishop, 2010). The
possibility of such factors as low intelligence or reduced hearing causing this
deficiency must be ruled out before SLI is diagnosed. Children with SLI have reached
most developmental milestones in a timely manner. The only exceptions are
linguistic ones. These children face difficulties in mastering the structure of language

(syntax, articles, cases etc.) and phonology (recognition and production of linguistic
sounds).
Autism Spectrum Disorders (ASD) are characterized by deficiencies in reciprocal
social interaction, communication and behavioral flexibility. The possible severity of
symptoms varies enough to be considered a spectrum and therefore atypical forms
of Autism exist. (Williams, Botting & Boucher, 2008). Despite this, the co-existence of
linguistic difficulties with autism is relatively common and has resulted in the
creation of a special category for people who exhibit this combination of symptoms.
This category is called Autism Spectrum Disorder- Language Impaired (ASD- LI).
This last category is the one that presents the most interest in regards with SLI. The
observation of the phenotype of common linguistic deficiencies has created notions
about a common neurological and mental background between the two (Verhoeven
et al., 2012). Therefore the questions that will be examined below are: A) Just how
similar are language deficiencies in SLI and ASD-LI? B) Are there common causes for
the two?
I chose this subject for my essay because it is an active field of study in Linguistic
Disorders, with a rapidly developing literature and several innovative theories that
try to explore its facets. Furthermore, the nigh inexplicability of the causes
underlying these disorders makes this subject a fascinating one.

Argumentation
Phenotypical Overlap
Despite the fact that in literature, as mentioned above, these two disorders
are distinct entities, in reality things are much more complex. SLI is usually described
as a disorder that mainly influences phonology and syntax (Williams et al., 2008). The
deficiencies, that people with SLI present, can be seen in the production and
comprehension of speech. This means that while these people appear to fully
understand those they are conversing with and to be able to form proper responses,
they cannot express these responses effectively by using spoken sentences. They
often resort to hand gestures and other non-verbal ways of expression. Their speech
is defined by poor vocabulary, poor choice of articles, cases etc. In regard with ASD,
around 50% of children with Autism never learn to speak (Bishop, 2003). The ones
that develop speech present deficiencies with its pragmatic and semantic aspects,
which is the exact opposite of children with SLI.
Some of the typical characteristics of speech in those children with Autism who
speak are: Echolalia, lack of prosody, lack of comprehension of their interlocutors
intentions, one-sided speech and literal interpretation of what others are saying. In
short, the phonological and grammatical capabilities of these children develop
normally, albeit delayed sometimes, but the ability to use them doesnt.
Despite all these, new discoveries and theories have cast shadows on this clear
separation between the phenotypes of these 2 disorders. The introduction of the
diagnostic category Pragmatic Language Impairment (PLI) is one of these. People

who display sufficient articulation and prosody yet face difficulties in participating in
meaningful conversation belong in this category. They tend to give socially nonacceptable or stereotypical answers and veer off-subject. Some researchers consider
this particular category to simply be a form of highly functional autism (Shields,
Varley, Broks, and Simpson, 1996), and utilize neuropsychological measurements to
prove that there is a greater relation of PLI with Autism than with SLI. In contrast,
other researchers (Bishop and Norbury, 2003) lean towards the opposite side and
claim that the lack of additional autistic characteristics in those people could possibly
prove that PLI is middle ground in a theorized continuum between SLI and ASD.
Research for PLI is still in an infantile stage and therefore solid conclusions are yet to
be obtained.
Rapin and Dunn (2003) headed towards a similar direction. Through their own
research and that of others they concluded that during childhood, people with
autism display symptoms of SLI along with those of ASD. As the years pass though,
those symptoms of SLI subside, and these people show only those linguistic
deficiencies that can be attributed to Autism. This observed overlap between ASD
and SLI during childhood serves to show that, in order to better understand and
treat linguistic disorders, one has to keep in mind differences between
developmental stages and also to strengthen opinions about common
neuropsychological dysfunctions lying at the base of both SLI and ASD (Williams et
al., 2008).
In order to determine whether speech errors prove the comorbidity of SLI with ASD
Roberts, Rice & Tager-Flusberg (2004) examined 62 children with Autism at tense

and third-person completion tasks. The children were split in 3 sub-groups (normal,
borderline, and linguistically impaired). While the children in the linguistically
impaired sub-group made more mistakes compared to those in the other 2 subgroups, those mistakes were not characteristic of SLI, such as wrong case or tense
choice, but rather of Autism. This means that they chose to not answer at all or
resorted to echolalia. Therefore in this particular study, phenotypical separation of
the two disorders was observed.
Further studies have examined both sentence (Botting & Conti-Ramsden. 2003) and
nonword repetition (Whitehouse, Barry & Bishop, 2007) between children diagnosed
with SLI and those diagnosed with ASD, and noted that both groups scored equally
low at these particular tests. Since these tasks though demand proper usage of a
large range of abilities, it is very much possible that this overlap is merely superficial
(Williams et al., 2008).

Neurological Causes Overlap

While research about phenotypical overlap has neither conclusively proved
nor disproved, it surely has provided ample motivation for a deeper investigation of
the neurological causes of these 2 disorders, with an aim of discovering common
neurological abnormalities.
This focus on neurological causes can be explained by both SLI and ASDs
classifications as genetic disorders. Family studies have brought to light the fact that
a high percentage of relatives of children with SLI face language deficiencies. Self-

assessment scales as well as language tasks which measured command over

expression and reception vocabulary were used in this process (Williams et al.,
2008). The same pattern is observed in studies with twins. Bishop, North & Donlan
(1996) in one such study proved that when one of twins is diagnosed with SLI, then
his/her twin sibling is much more likely to also have SLI if they are monozygotic twins
than if they are dizygotic. In fact, according to their research, a dizygotic twin of a
child with SLI is as likely to also have SLI as non-twin siblings in the control group.
Despite the above, heightened presence of people with SLI in the circle of relatives
of children with ASD has not been observed, and vice versa (Williams et al., 2008).
At a macromolecular level, one of the first genes to which language disorders were
attributed to was FOXP2, which belongs to the 7q31 chromosome. MacDermot et al.
(2005) claim that multiple members of the KE Family (an extended family that has
been the subject of thorough investigation, as half of its members display various
speech deficiencies, with some of them even presenting difficulties in moving facial
muscles in a manner that produces speech) a mutation of this gene can be observed,
which is considered a candidate for the cause of the form of speech dyspraxia
mentioned above. Despite this, previous research on the correlation of this gene
with SLI and ASD has produced controversial results. Scherer et al. (2003) in their
research on the 7 chromosome affirm the correlation of the FOXP2 gene with ASD.
Newbury et al. (2002) on the other hand reject the possibility that the same gene
comprises a major genetic factor for ASD and SLI, though without excluding its
possible involvement in forms of linguistic disorders that were not exhibited by their
sample.

From other chromosomes which have been linked with SLI and ASD individually (16q,
19q for SLI, 1p, 2q, 4q, 6q, 7q, 10p, 13q, 16p, 19q, 22q for ASD) none has been found
to be a common genetic factor for both disorders.
The above results make it abundantly clear that no unshakable proof of genetic
overlap between the 2 disorders has been uncovered. Researchers though have
attempted to find neuroanatomical similarities between people diagnosed with each
of them.
Abnormalities in areas of the brain that affect language such as Brocas Area and the
Temporal Lobe have been observed in people with SLI. Whitehouse & Bishop (2008)
used the Doppler ultrasound technique and noticed that during language tasks,
people with SLI displayed either an increased activation of the right cerebral
hemisphere or equal activation of both hemispheres. The norm for non-linguistically
impaired people, those with a history of SLI but not current symptoms and people
within the spectrum of autism is heightened activation of the left hemisphere. One
reservation that should be held about this study is its relatively small sample (n=11
for each sub-group).
An interesting asymmetry is also observed by De Fosse et al. (2004) who describe a
common reverse asymmetry of the inferior frontal gyrus at people with SLI and ASDLI whose right side was larger than the left. The opposite holds true for normally
developing people and those with ASD who display no linguistic deficiencies. They
also report that this asymmetry could be more related to language disorders than
autism itself and use this to support their claim of common neuroanatomical ground
existing between SLI and ASD-LI. According to Williams et al. (2008) a problem that

presents itself within this particular study is that a predicted asymmetry at the
temporal lobe was disproved and they cite a multitude of other studies which point
to an inconsistency of findings in regards to structural cerebral asymmetries of
people with SLI and ASD-LI.
A relatively specialized study which had the goal of confirming the existence of
common neuroanatomical background between SLI and ASD-LI was carried out by
Verhoeven et al. (2012). Specifically, after studying people from both groups by using
the Social Communication Questionnaire and the Social Response Scale and
observing an overlap between the two phenotypes as they both presented common
mixed expressive-receptive deficiencies, they reconstructed the Superior
Longitudinal Fasciculus of these groups, a nerve fiber bundle which is considered by
many to be of utmost importance for the use of language. The reason for this is that
it connects 2 key linguistic areas: Brocas Area and Wernickes area. This
reconstruction was performed through the use of Diffusion Tensor MRI (DTI-MRI),
which measures possible reduced or blocked movement of water molecules, as they
are diffused through the brain and especially through nerve bundles. Microstructural
deficits were observed at this particular Fasciculus of people with SLI but not at
those with ASD-LI, which present a structure that is similar to that of the control
group. Subsequently the researchers claim that the common phenotype is merely a
similar expression of different causes. They recognize as limitations of their study the
fact that the Superior Longitudinal Fasciculus is a complex mechanism, DTI-MRIs
restrictions and the small size of the sample but they express no doubts regarding
the results validity.

Conclusions
Surface similarities between SLI and ASD-LI have attracted a multitude of researchers
to compare both the phenotype of these two disorders and their neuroanatomical
background. Many of these attempts were motivated by the desire to find a magic
gene or magic cerebral area that could possibly explain the causes of these 2
mysterious disorders and, more importantly, would pave the road for more
effective diagnosis and treatment. Despite this, any attempts until now seems to
have arrived at an impasse as many studies uncover different neurological factors
which simply happen to express themselves in a similar manner. The relatively few
studies that prove the opposite tend to be controversial and their results nonreproductible.
Naturally, excluding the above possibility would currently be equally perilous.
Researchers working on these subjects observe highly specialized populations and
thus cant easily obtain large samples for multiple studies. If one also considers the
relative youth of this field of study, its only natural to come to the conclusion that
many more years and studies are required to shed light on the exact relationship
between SLI and ASD. Its almost certain though that this effort will not be made
easy by the discovery of a magic gene any time soon. Most likely, intensive
research of each disorder separately will be required before an attempt to bridge
them is successful.

Autism Spectrum Disorders and Specific Language Impairment. A continuum or

separate entities? Without a doubt this is a question that will continue to attract
attention for some time to come.

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