Case Based Pediatrics For Medical Students and Residents
Department of Pediatrics, University of Hawaii John A. Burns School of Medicine
Chapter I.9. Autism and Language Disorders
Mai Anh K. Nguyen, MD
April 2002

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A 3 year old male presents with a chief complaint of delayed speech. Previous physicians did not find any developmental problems. He started to babble at about 9 months of age and then learned a few words such as "Dada" and "boo" at 2 years of age. His parents have tried to stimulate his language development by reading to him, interacting with him during television watching, and teaching him to mimic others' speech. His parents became more concerned as he grew older, noting his speech was less than the other children in his play group. They try to engage him in interactive activities, but he does not seem interested. They note that he is very independent and that he is very serious. He likes to play by himself rather than talking with or singing with other children. They worry that he has no playmates or friends because of his speech delay. He has been generally healthy and has had a few ear infections.

His prenatal and past medical history are otherwise unremarkable and he has not had any serious infections or need for hospitalization.

Exam: Vital signs are normal. Height, weight, and head circumference are between the 25th and 50th percentiles. His HEENT, heart, lung, abdominal, skin and neuromuscular portions of the physical exam show no abnormalities. While you are talking with his parents, you notice that he separates from them easily and he wanders about the room. He does not seem to notice that everyone is talking about him. He finds some blocks in the corner and sits down to play with them. You call out to him, but he does not respond. He starts to sort the blocks by color into groups and lines them up. He seems content playing while you finish getting the history. After you are done, you go over to him in the corner. You sit down by him and notice that he does not seem to notice that you are there. He continues to line up the blocks (very neatly) and your attempts to interrupt him are unsuccessful. Although he seems content, you notice that he does not laugh or even smile much. You also notice that he does not look at you or check back to his parents. During the session, you notice that he does not say any words.

On developmental screening, his motor development is normal. He is delayed in his language, social, and self-help skills. Subsequent follow-ups include an audiology evaluation which shows his hearing to be normal and conducive to speech development.

It can sometimes be difficult to tell a child with autism from a child with a language disorder. This chapter is an orientation to autism and related disorders, and then language disorders.

Autism is the most well known of the Autism Spectrum Disorders (also known as Pervasive Developmental Disorders). This group includes the following conditions: Autistic Disorder (Autism), Rett's Disorder, Childhood Disintegrative Disorder, Asperger's Disorder, and Pervasive Developmental Disorder Not Otherwise Specified (PDD NOS). As a group, these disorders are characterized by disturbances in three main areas of functioning: social skills, communication, and restricted or repetitive interests/activities (1).

Autism was originally described by Leo Kanner in 1943 (2). The prevalence of autism is 2-10 cases per 10,000 people. The incidence of pervasive developmental disorder (not otherwise specified) may be as high as 1 per several hundred. The incidence of Asperger's Disorder is 9 to 90 cases per 10,000. It is more common than Autistic disorder, but children with Asperger's Disorder often aren't recognized or referred for specialty care since their verbal ability is much better. Rett's Disorder & Childhood Disintegrative Disorder are both much less common than autism (1).

Autism is associated with mental retardation with studies showing up to three-fourths scoring in the mentally retarded range. These children tend to have deficits in abstract thinking, sequencing/processing information, symbolic and verbal skills. They tend to do better with motor and perceptual-motor skills.

The ratio of males to females in autism is 4 or 5 to 1 in autism (1). Interestingly, almost all cases of Rett's Disorder occur in girls. The signs of autism and the other autism spectrum disorders include:

1) Social Disturbance: Notable for lack of eye contact, poor or absent attachments, and general lack of social interest (2).

2) Communicative Disturbance: Half of those with these disorders never gain useful communicative speech. They fail to point and fail to imitate. Those who do speak may have echolalia, perseveration, pronoun reversal, extreme literalness, monotony of tones, failure to use correct cadence and intonation, failure to develop semantics (word use), failure to develop reciprocity in dialogue, and failure to use language for social interaction. Humor is usually not understood by many of these children.

3) Behavioral Features: This is notable for particular attachments to objects. They often have stereotyped (purposeless & repetitive) movements such as hand flapping or toe walking. They enjoy spinning objects or themselves. A lack of imaginative play is typical. (1)

The characteristics of each disorder can be summarized:

Autistic Disorder (Autism): To meet DSM-IV criteria, this condition is characterized by at least two specified features of social interaction, one specified feature of communication, and one specified feature of restricted or repetitive interests/activities (required to have a total of six or more items from all three areas). Delay in at least one area of social interaction, language as social communication, or symbolic or imaginative play, must be present prior to three years of age.

Rett's Disorder: Initially there is normal development and normal head circumferences. Then, there is deceleration of head growth between 5 and 48 months, loss of purposeful hand skills and development of stereotyped behaviors between 5 and 30 months, loss of social engagement, delays in language development, and poor motor development.

Childhood Disintegrative Disorder: Similar to Rett's Disorder, there is initial normal development; in this case, for the first two years of life. Then, there occurs loss of acquired skills in at least 2 areas of the following: expressive or receptive language, social skills or adaptive behavior, bowel or bladder control, play, or motor skills. Also, impairment must be present in at least two of the three areas of social interactions, communication, or stereotyped behaviors.

Asperger's Disorder: This is characterized by impaired social interaction and stereotyped behaviors. Unlike autism, there is no clinically significant delay in language or cognitive development. Many become very interested and talented in one area. For example, they may know all the dinosaurs by name, or may be fascinated about anything relating to cars.

Pervasive Developmental Disorder, not otherwise specified (PDD NOS): This disorder has some of the characteristics of the entire group of disorders, but fails to meet full criteria for any of the other four diagnoses.

The differential diagnoses for this group of disorders include language disorders, sensory impairments, mental retardation, reactive attachment disorders, childhood schizophrenia, complex motor tics, and obsessive compulsive disorders (4).

About one third are able to achieve some level of personal and occupational independence. One to two percent are able to live independently. Important predictors of outcome are intellectual level and communicative competence. Childhood Disintegrative Disorder and Rett's Disorder have the worst prognosis. Asperger's Disorder and PDD NOS have the best prognosis as they have less severe language problems and many strengths (1).

Treatment and Management of Autism Spectrum Disorders include educational interventions to foster acquisition of basic social, communicative, and cognitive skills. Examples include Floor Time, Discrete Trial Training, and Picture Exchange Communication System. Behavioral interventions are used to increase appropriate behaviors (gestures) and decrease inappropriate ones (flapping). The use of psychopharmacology (refer to the table below) is purely symptomatic; however, many do not need medications. There is no standard medication for autistic spectrum disorders.

Education and support of the family is very important. Many families hear this diagnosis as a "life sentence" without hope. Medical and educational personnel need to educate and encourage the family to use early intervention. Also physicians need to address old ideas about these conditions being caused by parental neglect (the idea of the "refrigerator mother"). There are many support groups available to help.

Advocating for the child in working with educational systems is helpful since these children need special accommodations and class structure. Physicians need to work with schools, teachers, and help families work with the educational system as well.

Unfortunately, because these are chronic disorders currently without a cure, there are quite a few alternative therapies available for families to purchase. Many of these have not been studied systematically and families need to be made aware of the monetary cost, risks, and poor results that may result from their use.

Medication considerations for autistic spectrum disorders:
. . . . Neuroleptics - may enhance learning and improve behavioral adaptation.
. . . . Tranquilizers - may decrease activity levels, increase relatedness, and increase task involvement.
. . . . SSRI - may help with inappropriate behaviors and mood difficulties.
. . . . Stimulants - may decrease hyperactivity, but may exacerbate hyperactivity in some.
. . . . Vitamins - purported to help, as children with autism are sometimes thought to have improvement of socialization and language. However, the evidence so far is very weak. (1)

Language Disorders

Language disorders are usually first noticed in early childhood. The prevalence is about 15% of children in kindergarten. Generally, children can usually produce (on average) 2 word phrases by 24 months, 3 word phrases by 30 months, and 4 word phrases by 36 months. Almost all children should be able to articulate all vowel sounds by 3 years of age. Girls generally develop speech sounds earlier than boys (2).

The characteristics of different language disorders can be summarized as:

Stuttering: This is an impairment in speech fluency characterized by frequent repetitions or prolongation of sounds or syllables (3). Difficulty is mostly at the beginning of sentences and especially with words longer than five letters. Singing is usually spared. Stuttering usually starts between two to seven years of age (2). Recovery is usually by adolescence. About 1% of children stutter. The male:female ratio is about 3:1 (3). Left handers have a higher prevalence of stuttering. Stress and anxiety can exacerbate this (2). There generally is a familial component, a biological component (laryngeal movement), and an environmental component involved (3).

Phonological Disorder: This is an impairment in the production of developmentally expected speech sounds. Evaluation of this disorder needs to rule out problems with intelligence, hearing, or the speech apparatus. The disorder is characterized by distortions of sounds, omissions of sounds, incorrect substitutions of one sound for another, avoidance of certain sounds, or reversals or misorderings of sounds. It is usually recognized at about 4 years of age. This is the most prevalent communication problem affecting 2% of school age children and 3% of preschool children (3).

Developmental Language Disorder (Specific Language Impairment): This is diagnosed when verbal intelligence develops slower than intelligence in other cognitive domains. A thorough evaluation excludes co-morbid conditions that could cause it. Two to three percent of 3 year olds have deficits in expressive, receptive, or both areas of language. This disability may affect spoken language, writing, lip reading, manual alphabet, sign language, Braille, and verbal memory (2). There are two main categories of Developmental (Specific) Language Disorders: 1) Specific expressive language disorder, and 2) Mixed Receptive-Expressive Language Disorders. In Specific Expressive Language Disorder, children are late in talking and slow to add words to their vocabulary. They generally have trouble with syntax (sentence structure) and grammatical rules. Phonological problems frequently coexist. They may also have trouble with word retrieval and tend to use word substitutions. They show an "inflexibility" of language due to their limited repertoire of language available. This may hamper their social interactions because they are 'unable' to verbally express themselves well. Children with this disorder are generally recognized by 3 years of age. Children with Mixed Receptive-Expressive Language Disorders have impaired expressive language ability combined with impaired understanding of language. Unfortunately, they often are thought to have expressive problems only. But in actuality, they also have trouble with understanding single or multi-word utterances, concepts (time, space, relationships), and multiple meanings of words. They may also have difficulties with grammatical concepts such as tenses (past versus present) or numbers (single versus plural), syntax, or slang usages.

Selective Mutism: This is a "failure to speak in one or more environments". This disorder is more common in females and seen in <1% of the population referred to mental health settings. This usually involves not speaking at school or to adults outside of the home. It is generally more of a refusal to talk rather than an inability to talk. IQ is usually average or above average. Onset is usually between 3 and 8 years of age, generally with the start of school. Some associated characteristics are excessive shyness, social isolation, school refusal, immaturity, compulsive traits, anxiety, aggression, and depression. Generally, improvement is within months or years of treatment onset. The prognosis is worse if this occurs in children over 12 years of age. A biological component, possibly maturational, suggests that children with selective mutism may be predisposed for other difficulties such as other speech or language disorders, encopresis, or enuresis (3).

Acquired Aphasia: This is development of aphasia after language development has begun. This usually occurs after 2 years of age. Encephalopathy from bacterial infections, traumatic lesions, and stroke in the dominant hemisphere are the most common reasons. This almost always results in nonfluent speech and may also progress to loss of spontaneous speech or mutism. Unless cortical damage is bilateral, recovery in children is more likely than in adults. However, they may retain residual language deficits that may hamper their school performance. Concurrent comprehension difficulties can happen, but occur less commonly.

Landau-Kleffner syndrome: This is a rare syndrome involving nonconvulsive status epilepticus. There are severe comprehension and recognition deficits. Oral expression is worse than written expression, but both are deficient. Nonverbal intelligence is normal. 70% have hyperactivity, impulsivity, oppositional, or other behavioral problems. Prognosis is poor even with anticonvulsant medications.

The differential diagnoses for these language disorders include: deafness or hearing loss, mental retardation, autism spectrum disorders, other psychiatric disorders, organically caused communication disorder (cleft palate, apraxia, cerebral palsy, or childhood acquired aphasia).

To make the diagnosis of a particular language disorder, a variety of language assessment tools can be used. Intelligence and cognitive testing (generally nonverbal based tests) such as the WISC (Wechsler Intelligence Scale for Children) performance subscale, Ravens Colored Progressive Matrices for Children, and the Leiter International Performance Scale, can help differentiate between mental retardation and more specific disorders. Audiology tests are essential to rule out hearing deficits (2). An important part of the evaluation is determining whether or not there is a specific speech/language disorder or it is a deficit that is part of a bigger picture (genetic syndrome, psychiatric disorder, etc.) (3).

Treatment may include individual or small group therapy with a speech/language pathologist. A child psychiatrist or child psychologist may be helpful for children with Selective Mutism. Learning of Alternative Communication Methods (AAC), such as sign language or communication boards, may be crucial for certain disorders. Educational tutoring, social skills training, and behavioral interventions such as operant conditioning, contingency management (positive and negative reinforcements), and shaping of behavior are important for many children with problems occurring secondary to the language disorder. Family education and support and close collaboration with educational systems are important roles for the physician.


1. What are the three main areas affected in children with Autistic Spectrum Disorder? (Select all that apply)
. . . . a. Splinter skills
. . . . b. Socialization
. . . . c. Language
. . . . d. Motor abilities
. . . . e. Repetitive and restricted interests and activities

2. What differentiates Language Disorders from Autistic Spectrum Disorders? (Select all that apply)
. . . . a. Social skills are secondarily affected.
. . . . b. Interests are not usually restricted.
. . . . c. There is usually no repetitive behavior.
. . . . d. Autism doesn't affect language.
. . . . e. Most children with language disorders are not usually mentally retarded, while the majority of children with autism are.

3. Which medical disciplines generally see children with autism? (Select all that apply)
. . . . a. Pediatricians
. . . . b. Child Psychologists
. . . . c. Child Psychiatrists
. . . . d. Neurologists
. . . . e. Family Practitioners

4. True/False: Medications can directly treat autism.

5. Which evaluations would be important in diagnosing children thought to possibly have autism or language disorders? (Select all that apply)
. . . . a. Audiology
. . . . b. Intelligence/Cognitive Testing
. . . . c. Allergy testing
. . . . d. Behavioral assessment
. . . . e. Physical examination


1. Volkmar FR. Chapter 44 - Autism and the Pervasive Developmental Disorders. In: Lewis Melvin (ed). Child and Adolescent Psychiatry: A Comprehensive Textbook, second edition. 1996, Baltimore: Williams & Wilkins, pp. 489-497.

2. Kinsbourne M, Graf WD. Chapter 16 - Disorders of Mental Development. In: Menkes JH, Sarnat HB (eds). Child Neurology, sixth edition. 2000, Philadelphia: Lippincott Williams & Wilkins, pp. 1155-1182.

3. Paul R. Chapter 47 - Disorders of Communication. In: Lewis M (ed). Child and Adolescent Psychiatry: A Comprehensive Textbook, second edition. 1996, Baltimore: Williams & Wilkins, pp. 510-519.

4. American Psychiatric Association: Diagnostic and Statistical Manual of Mental Disorders, fourth edition, text revision. 2000, Washington, DC, American Psychiatric Association.

Answers to questions

1. b, c, e

2. a, b, c, e

3. all are correct

4. False, medications are used symptomatically for particular behaviors or related affective disorder.

5. a, b, d, e

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