Challenging Case
Teasing Out Specific Language Impairment From an Autism
Spectrum Disorder
Cheryl D. Tierney, MD, MPH,* Vidya Bhushan Gupta, MD, MPH,†
Alma Patricia Del Angel, MD,‡ Marilyn Augustyn, MD§
CASE: Marcus is a handsome, sweet, 71⁄2-year-old boy with a significant history of delayed development,
specifically in speech and language skills, as well as difficulties with social interactions that have led other
specialists to be concerned about a diagnosis of an autism spectrum disorder.
He has been seen in our primary care practice since birth. He was born full-term after vaginal delivery weighing 6
pounds, 6 ounces. There were no pregnancy or delivery complications noted. Genetic testing revealed normal chromo-
somes, fragile X, and microarray testing. Marcus was a picky eater and good sleeper and had delays in toilet training.
There is no family history of attention-deficit hyperactivity disorder (ADHD), autism, or substance abuse.
Maternal grandmother and mother have a history of learning difficulties, and his father and a paternal uncle have
a history of depression and anxiety. Marcus lives in a supportive environment with his mother, father, and sister.
Marcus was noted to have significantly delayed language, stuttering, and immediate echolalia as a toddler.
Gross and fine motor milestones were met on time, but he did not talk or follow directions until 4 to 5 years
old. As a younger child, he would pretend to talk on the phone or mow the grass with a pretend lawn mower,
but other household activities were not of interest to Marcus.
Currently, he enjoys puzzles, reading, and board games. He likes to play with other children and can interact with
familiar adults. Marcus is reported to initiate social interactions, although he has difficulty in understanding personal
space. Imaginative play is preferred over other types. He seeks out adult attention and will bring objects over to an adult
especially to share his perceived accomplishment. Marcus has difficulty in playing cooperatively with his sister.
He is independent with activities of daily living. Marcus is noted to have auditory defensiveness including
covering his ears to loud noises and becoming distressed. Parents feel he is immature and inattentive for his
age. Marcus responds well when a routine is followed.
Previous testing about 2 years ago revealed significant language deficits on the Clinical Evaluation of Language
Functioning with average scores on the Woodcock Johnson Achievement Testing and Test of Nonverbal Intelli-
gence Version 3. Marcus was not referred for early intervention and he did not attend preschool. In a regular
education Kindergarten, he received speech and occupational therapy along with reading and math support.
Comments from teachers or evaluator include the following: Marcus looked to his peers for clues about
what he should be doing. Marcus has great difficulty in understanding requests but seems to be interested in
pleasing his teacher and others. Marcus’ language difficulty makes socialization with his peers problematic;
however, he is interested in interacting with them and they seem to accept him willingly. Marcus has intent to
communicate with others but relies on visual support to decipher social situations. Marcus has difficulty in
attending to details and moves from activity to activity quickly. His short attention span is likely impacting not
only learning but also his ability to socially interact with peers.
On the day you see him for his 7-year-old checkup, he brought many toys over to show his father and
interrupted your conversation to get your attention intermittently throughout the examination. He immedi-
ately pointed out a lit ceiling tile with Nemo illuminated to show his father. Marcus does not have any notable
or significant repetitive motor mannerisms or stereotypies reported or observed. Marcus’ gesture use was
appropriate for age and included both symbolic (directing eye gaze and pointing) and concrete (hands up to
be picked up and touching an item rather than pointing to it) gestures. Play observed today, although
immature for age, was novel, imaginative, and functional. Answers to questions did not always match the
question posed. He had a difficult time waiting for his turn before interrupting a conversation. Visual cues
were helpful in understanding what was expected of him and what was going on socially.
Marcus’ speech is notable for persistent stuttering and difficulty in turn-taking in conversation. He gets
frustrated easily and has a hard time being understood. He continues to confuse pronouns and makes
some grammatical errors. He is able to follow simple directions but has a hard time following complex or
multistep directions with accuracy. Nonverbal communication includes pointing to objects of interest in
The next case is posted at www.jdbp.org for discussion on the Clinical Conversations blog.
From the *Division of Human Genetics, Growth and Development, Department of Pediatrics, Penn State Hershey Children’s Hospital, Hershey, PA; †Department of
Pediatrics, Metropolitan Hospital Center, New York Medical College, New York, NY; ‡Clinical Director, Autism Community Network, San Antonio, TX; §Department
of Pediatrics, Division of Developmental and Behavioral Pediatrics, Boston University School of Medicine, Boston, MA.
Disclosure: The authors declare no conflict of interest.
Copyright © 2012 Lippincott Williams & Wilkins
272 | www.jdbp.org Journal of Developmental & Behavioral Pediatrics
order to share the experience (“Look mom!”). He will point to identify an object and can follow a point
across the room. He is able to use his eye contact to direct yours to moderate social interactions.
Marcus has a special interest in Thomas the Tank Engine Train and Disney movies but is able to move away
from those topics to engage in other play interests. Repetitive behaviors are not noted. Toe walking, hand
flapping, or spinning, or unusual hand motions or observation of objects were not observed.
Difficulties noted today include delays in his receptive and expressive language, poor intelligibility, dys-
fluency, and impaired motor planning. He recently underwent an audiogram which was normal. You decide to
refer to a specialist for further evaluation.
(J Dev Behav Pediatr 33:272–274, 2012)
DISCUSSION teraction and reciprocal social interaction. But Marcus
Cheryl Tierney, MD, MPH uses nonverbal behavior such as eye contact, facial ex-
More children are currently referred for an evaluation pressions, and gestures to direct social attention and
of autism spectrum disorder when there is any commu- shares joy on his accomplishment with others. He likes
nication impairment coupled with problems in social to play with other children but is frustrated due to his
development.1 This is reasonable and appropriate. How- inability to understand them or to converse with them.
ever, not all children with “odd” behaviors are on the His play does not consist of repetitive manipulation or
autistic spectrum; it is good practice to take a detailed lining up of objects but is imaginative. Although he has
history not only from the family but also from others some auditory sensitivity, he does not have any manner-
who know the child, such as teachers, child care pro- isms and tolerates change well. All these observations
viders, and coaches. One might also take the approach of make the diagnosis of autism unlikely.
Michael Rutter who wrote in a recent article, “at present, Besides autism spectrum disorder, social difficulties can
there are far too many diagnoses.”2 occur in nonverbal learning disability, ADHD, and speech
There is evidence that Marcus has intent to communi- and language disorders. Marcus showed average scores on
cate and uses gestures which should be impaired in a child the Woodcock Johnson Achievement Testing and Test of
with autism. However, he is not able to understand per- Nonverbal Intelligence Version 3, essentially ruling out a
sonal space, he does not engage in back and forth conversa- nonverbal learning disability. Children with ADHD have
tion, and he has problems with social interactions with peers. difficulty in turn-taking because of impulsivity and in fol-
A school observation may be helpful to observe how lowing complex multistep directions because of inatten-
he interacts and communicates with peers and teachers. tion but do not have severe receptive and expressive lan-
Rating scales would be a reasonable next step, such as guage difficulties which Marcus has, as confirmed by low
the Social Responsiveness Scale or Child Behavior scores in Clinical Evaluation of Language Functioning. Mar-
Checklist filled out by parents, teachers, and therapists. cus has several language difficulties: semantics (difficulty in
A more current speech and language assessment would understanding what others say, confusing pronouns; mor-
address social pragmatics, speech apraxia, and language phological and syntactic), grammatical errors, and pragmat-
processing. Follow-up after observation, testing, and rat- ics (difficulty with turn-taking and understanding what is
ing scales will likely provide a better understanding of going on socially). He stutters. Tuchman et al1 proposed a
Marcus as well as whether formal testing using the Au- classification of central language processing disorders that
tism Diagnostic Observation Scale is indicated. More included semantic-pragmatic disorder. Although semantic
importantly, an accurate assessment will help you tailor pragmatic disorder has been challenged as a diagnosis,
intervention for this child’s specific needs. Marcus’ failure to understand what others say and difficulty
in turn-taking in conversation suggest difficulties in seman-
REFERENCES tics and pragmatics, consistent with a pragmatic language
1. Johnson CP, Myers SM. Identification and evaluation of children impairment.2 A new diagnostic category of social commu-
with autism spectrum disorders. Pediatrics. 2007;120:1183–1215.
nication disorder (SCD) has been proposed for DSM-V.3
2. Rutter M. Research review: child psychiatric diagnoses and
classification: concepts, findings, challenges and potential. J Child Children with SCD have impairments in those verbal and
Psychol Psychiatry. 2011;52:647– 660. nonverbal aspects of language that are required to achieve
the social and functional goals of communication. Marcus
Vidya Bhushan Gupta, MD, MPH does not have difficulty with use of nonverbal gestures and
The specific question for this consultation is whether cues, suggesting that he has a mixed receptive and expres-
Marcus is on the autistic spectrum. The basis of this sive speech and language disorder and not SCD.
suspicion is his relatively poor social skills, such as dif- To conclude, poor social skills do not necessarily
ficulty in understanding personal space, difficulty in mean autism, but many pathways lead to poor social
playing cooperatively with his sister, answers that do not skills and a careful analysis of historical and observational
match the questions asked, and difficulty with peer in- data is necessary to make an appropriate diagnosis.
Vol. 33, No. 3, April 2012 © 2012 Lippincott Williams & Wilkins 273
REFERENCES Table 1. Autism-Related Findings
1. Tuchman RF, Rapin I, Shinnar S. Autistic and dysphasic children. Positive Negative Neutral
I: clinical characteristics. Pediatrics. 1999;88:1211–1218.
2. Bishop DE, Norbury CF. Exploring the borderlands of autistic Immature Adequate joint attention Delayed language
disorder and specific language impairment: a study using social Initiation of social Poor intelligibility/
standardized diagnostic instruments. J Child Psychol Psychiatry. skills interaction dysfluency
2002;43:917–929.
3. Available at: http://www.dsm5.org/ProposedRevisions/Pages/ Interest in children Sensory difficulties
proposedrevision.aspx?rid⫽489. Accessed 30 January 2012. Fair nonverbal Impaired motor
communication planning
Alma Patricia Del Angel, MD Imitation and play skills Inattentiveness
Marcus’ case illustrates a number of interesting facts. Absence of motor
At a time when autism-specific surveys are the norm, mannerisms
practitioners in solo practice must ponder the need to Sharing with others
refer patients directly to therapy for treatment of specific
Flexibility
delays or to refer them for further evaluation.1 This is
relevant because the demand for developmental special-
ists greatly outstrips supply. Marilyn Augustyn, MD
Individual practitioners may rely on a systematic ap- This case raises several of the complexities inherent
proach including detailed history, questionnaires, behav- in teasing out developmental changes and challenges
ioral checklists, observation scales, standardized testing, from pathology. Some argue for an “autism medical
and other sources such as direct observation and/or reports home” because of the complexity of this disorder, yet a
from people directly in touch with the patient in question. boy like Marcus would not have needed such specific
In Marcus’ case, after reviewing standardized results care because it is unclear whether he even carries the
and other data, one may still consider a “simpler” listing diagnosis.1 The varying approaches of these 3 clinicians
of positive, negative, and neutral findings to help orga- reflect conflict inherent in a field where criteria are still
nize the diagnostic paradigm. After diagnostic formula- evolving. Perhaps the new diagnostic criteria for autism
tion, follow-up evaluation including perhaps an Autism in the upcoming DSM-V will clarify these diagnostic
Diagnostic Observation Scale would help confirm or dilemmas.2 Stay tuned!
redefine the original impression and assist in long-term
planning (Table 1). REFERENCES
1. Carbone P, Behl DD, Murphy NA. The Medical Home for
REFERENCE Children with ASD: Parent and Pediatrician Perspectives.
1. Filipek PA, Accardo PJ, Ashwal S, et al. Practice parameter: J Autism Dev Disorders. 2010;40(3):317–324.
screening and diagnosis of autism: report of the Quality Standards 2. Frazier TW, Youngstrom EA, Speer L, et al. Validation of
Subcommittee of the American Academy of Neurology and the proposed DSM-5 criteria for autism spectrum disorder. J Am Acad
Child Neurology Society. Neurology. 2000;55:468 – 479. Child Adolesc Psychiatry. 2012;51:28 – 40.
274 Challenging Case Journal of Developmental & Behavioral Pediatrics
