Pediatric Primary Care Case Studies (9 page)

Fraternal twins, like other siblings, may demonstrate considerable variation in achieving developmental milestones but the variation should be within the range of normal milestones.

Information About Autistic Spectrum Disorders and Language Delays

Autistic spectrum disorders (ASDs) are neurodevelopmental disorders in which children exhibit a lack of age-appropriate personal-social, adaptive, and communication skills. Children with ASDs demonstrate restricted interests, perseverative behaviors with repetitive activities, and qualitative impairments in sharing interests and enjoyment with others. Insistence on maintaining nonfunctional routines and rituals in daily life are additional hallmarks of these disorders.

Pervasive developmental disorder, not otherwise specified (PDD-NOS) is considered to be a subthreshold diagnosis where the young child exhibits characteristics of autism disorder (AD) but fails to meet the strict criteria to allow a formal diagnosis of AD (
Figure 3-1
).

Asperger syndrome (AS) is a form of AD found in older children. Children with AS do not exhibit the same degree of speech and language problems as children with AD or PDD-NOS.

Etiology

To date, the etiology of ASDs remains elusive. Researchers have postulated that genetic (Muhle, Trentacoste, & Rapin, 2004) and, to a lesser extent, environmental influences play a role. It is highly likely that the etiology is multifactorial (Barbaresi, Katusic, & Voight, 2006).

Epidemiology

The prevalence of ASDs has increased 10-fold over the past several decades. Earlier studies demonstrated a prevalence of 1 in 2,000; recent figures show a frequency of 1 in 150 (Autism and Developmental Disabilities Monitoring Network, 2007), with males outnumbering females by a ratio of 3.5 to 1. With these odds, it is likely that most clinicians will diagnose or follow a child with ASD in the primary care setting.

A timely diagnosis is imperative for successful intervention for the child with ASD.

A. A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3):

(1) Qualitative impairment in social interaction, as manifested by at least two of the following:

(a) Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction

(b) Failure to develop peer relationships appropriate to developmental level

(c) Lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest)

(d) Lack of social or emotional reciprocity

(2) Qualitative impairments in communication as manifested by at least one of the following:

(a) Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)

(b) In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others

(c) Stereotyped and repetitive use of language or idiosyncratic language

(d) Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level

(3) Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:

(a) Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus

(b) Apparently inflexible adherence to specific, nonfunctional routines or rituals

(c) Stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements)

(d) Persistent preoccupation with parts of objects

B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play.

C. The disturbance is not better accounted for by Rett Disorder or Childhood Disintegrative Disorder

Source:
From
Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition Text Revision (DSM-IV-TR)
. Washington DC: American Psychiatric Association; 2000:75. Retrieved at
http://www.cdc.gov/ncbdd/autism/overview_diagnostic_criteria.htm

Figure 3-1    Diagnostic criteria for 299.00 autistic disorder.

Data for the Diagnosis

History

Peter has developed several words: he says “dada” and “mama,” as well as “ball,” “baba” (bottle), and “juice.” He also points or gestures to indicate his wants. James, on the other hand, has no discernible words. Many times he screams when he wants something. Ms. Jones admits that she finds it frustrating to figure out what James wants. She asks for advice on how to stimulate James’s speech.

How would you respond to Ms. Jones’s question?

You acknowledge Ms. Jones’s frustration and offer your support. You tell her that before offering advice on how to stimulate James’s speech, you need to obtain additional information about other areas of his development.

What additional questions could be asked to get a better handle on James’s language development?

You ask Ms. Jones to what extent James seems to understand her when she talks to him. She reports that many times he will just stand and look at her briefly when she speaks to him, then resume his activity without further acknowledgement. Sometimes he doesn’t seem to respond when she calls him by name.

Does James meet the criteria for a language delay?

By parental report, James meets the criteria for developmental delay in both expressive speech and receptive language. Not only is he not using simple words to express his desires, but he also demonstrates a lack of comprehension and engagement when others speak to him.

What other concerns arise with this new piece of information?

Adequate hearing discrimination is necessary for proper speech development. A child cannot learn to mimic speech sounds that he cannot hear. Thus, it is vitally important to ascertain the child’s ability to hear, especially at the level of speech frequencies.

An additional concern is that James responds inconsistently when called by name. Ms. Jones reports that sometimes James seems to respond to sounds. For example, he runs to the telephone when it rings and stares at the receiver. He also responds to the doorbell. He watches the television for brief periods of time. Meantime, you flip back through James’s chart and verify that he passed his newborn hearing screen evaluation. You also note that James has had no middle ear infections to date.

During conversation with their mother, you have a chance to observe Peter and James as they move about the exam room. Peter has pulled a number of books from the plastic
basket in the corner. He opens one, flips through the pages briefly, then brings the book to his mother, pulling on her skirt and holding the book up for her to see. “Oh, you’ve found a book to read!” Ms. Jones says that “Peter likes books.” You note that James is sitting on the floor holding a toy car upside down. He spins the wheels repeatedly with one hand over and over again. When you comment on this behavior, Ms. Jones concurs that James frequently engages in such play at home. “He’s mesmerized by a music box carousel that spins round and round,” she tells you. Another favorite toy is a pinwheel.